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 ACHILLES_Top_Genes 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 pox qox pox_cutoff isArtifactMode oxoGCut LRRC47 57470 broad.mit.edu 37 1 3699302 3699302 + Nonsense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:3699302C>A uc001akx.1 - 5 1364 c.1336G>T c.(1336-1338)GAA>TAA p.E446* NM_020710 NP_065761 Q8N1G4 LRC47_HUMAN leucine rich repeat containing 47 446 translation phenylalanine-tRNA ligase activity|RNA binding large_intestine(1)|ovary(1) 2 all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21) all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) GGGTAATTTTCATTTCCATCC 0.363 NA 6 85 0.00448238 0.00461156 0.004482 1 0 KIF1B 23095 broad.mit.edu 37 1 10436630 10436630 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:10436630C>G uc001aqx.3 + 49 5638 c.5436C>G c.(5434-5436)AGC>AGG p.S1812R KIF1B_uc001aqw.3_Missense_Mutation_p.S1766R|KIF1B_uc001aqy.2_Intron|KIF1B_uc001aqz.2_Intron|KIF1B_uc001ara.2_Intron|KIF1B_uc001arb.2_Intron NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 1812 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GATGCCCGAGCCAGTCGAAAT 0.517 NA 86 80 0 0 0.01441 0 0 TMCO4 255104 broad.mit.edu 37 1 20073736 20073736 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:20073736C>T uc001bcn.2 - 8 775 c.533G>A c.(532-534)CGA>CAA p.R178Q TMCO4_uc001bcm.2_Missense_Mutation_p.R178Q|TMCO4_uc001bco.1_Missense_Mutation_p.R178Q|TMCO4_uc001bcp.1_Missense_Mutation_p.R178Q|TMCO4_uc009vpn.1_Missense_Mutation_p.R178Q|TMCO4_uc001bcq.1_Missense_Mutation_p.R178Q NM_181719 NP_859070 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 178 Potential. integral to membrane 0 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) TTTCTTCTTTCGGGATGCCTC 0.562 NA 30 351 0 0 0.013726 0 0 SNRNP40 9410 broad.mit.edu 37 1 31769485 31769485 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:31769485C>A uc001bso.2 - 1 160 c.114G>T c.(112-114)CAG>CAT p.Q38H SNRNP40_uc010oge.1_Missense_Mutation_p.Q38H|ZCCHC17_uc001bsp.1_5'Flank|ZCCHC17_uc001bsq.1_5'Flank|ZCCHC17_uc010ogf.1_5'Flank|ZCCHC17_uc009vtu.1_5'Flank|ZCCHC17_uc001bsr.1_5'Flank|ZCCHC17_uc009vtv.1_5'Flank NM_004814 NP_004805 Q96DI7 SNR40_HUMAN WD repeat domain 57 (U5 snRNP specific) 38 catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP protein binding 0 CCGGCGTCGCCTGCTGCTGCC 0.642 NA 45 68 4.01344e-20 4.84053e-20 0.01441 1 0 LRRC7 57554 broad.mit.edu 37 1 70541760 70541760 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:70541760G>T uc001dep.2 + 22 4147 c.4117G>T c.(4117-4119)GCA>TCA p.A1373S LRRC7_uc009wbg.2_Missense_Mutation_p.A657S|LRRC7_uc001deq.2_Missense_Mutation_p.A567S NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1373 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TTCTCCACAGGCAGGCAGCCA 0.493 NA 19 28 1.96292e-10 2.18306e-10 0.010504 1 0 USP33 23032 broad.mit.edu 37 1 78194222 78194222 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:78194222C>A uc001dht.2 - 11 1333 c.986G>T c.(985-987)AGA>ATA p.R329I USP33_uc001dhs.2_Missense_Mutation_p.R50I|USP33_uc001dhu.2_Missense_Mutation_p.R298I|USP33_uc001dhv.2_Missense_Mutation_p.R134I|USP33_uc001dhw.2_Missense_Mutation_p.R329I NM_015017 NP_055832 Q8TEY7 UBP33_HUMAN ubiquitin specific protease 33 isoform 1 329 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(2)|ovary(1) 3 ATTTTCTGCTCTATCACTGTT 0.368 Melanoma(152;72 1870 11110 26780 42647) NA 36 70 6.19805e-25 7.60379e-25 0.005524 1 0 LPHN2 23266 broad.mit.edu 37 1 82409320 82409320 + Missense_Mutation SNP T T G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:82409320T>G uc001dit.3 + 6 1246 c.1065T>G c.(1063-1065)GAT>GAG p.D355E LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.D355E|LPHN2_uc001div.2_Missense_Mutation_p.D355E|LPHN2_uc009wcd.2_Missense_Mutation_p.D355E NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 355 Extracellular (Potential).|Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AATATGTAGATGTTCCCTTCC 0.358 NA 23 113 0 0 0.00333 0 0 LPHN2 23266 broad.mit.edu 37 1 82432241 82432241 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:82432241C>T uc001dit.3 + 12 2427 c.2246C>T c.(2245-2247)TCC>TTC p.S749F LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.S749F|LPHN2_uc001div.2_Missense_Mutation_p.S749F|LPHN2_uc009wcd.2_Missense_Mutation_p.S749F|LPHN2_uc001diw.2_Missense_Mutation_p.S333F NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 762 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AATAAAGAGTCCAGCCGAGTA 0.383 NA 6 250 0 0 0.001168 0 0 SLC6A17 388662 broad.mit.edu 37 1 110735252 110735252 + Missense_Mutation SNP A A G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:110735252A>G uc009wfq.2 + 8 1692 c.1231A>G c.(1231-1233)ACC>GCC p.T411A SLC6A17_uc001dze.1_Missense_Mutation_p.T9A NM_001010898 NP_001010898 Q9H1V8 S6A17_HUMAN solute carrier family 6, member 17 411 Extracellular (Potential). alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity ovary(1)|pancreas(1) 2 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) TGTCATCATGACCGTGAAGGA 0.592 NA 15 56 0 0 0.003163 0 0 HIST2H2AC 8338 broad.mit.edu 37 1 149858806 149858806 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:149858806G>A uc001etd.2 + 1 282 c.282G>A c.(280-282)CTG>CTA p.L94L HIST2H2BE_uc001etc.2_5'Flank NM_003517 NP_003508 Q16777 H2A2C_HUMAN histone cluster 2, H2ac 94 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|skin(1) 2 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) ACGAGGAACTGAACAAGCTGC 0.582 NA 17 188 0 0 0.00278 0 0 SV2A 9900 broad.mit.edu 37 1 149885007 149885007 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:149885007C>A uc001etg.2 - 2 877 c.386G>T c.(385-387)GGG>GTG p.G129V SV2A_uc001eth.2_Missense_Mutation_p.G129V NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2 129 Cytoplasmic (Potential). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(6)|pancreas(1) 7 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) GGGACCCTCCCCATCACTCAA 0.657 NA 24 214 1.64293e-13 1.89815e-13 0.00333 1 0 TARS2 80222 broad.mit.edu 37 1 150464139 150464139 + Splice_Site SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:150464139G>A uc001euq.2 + 6 702 c.695_splice c.e6+1 p.G232_splice TARS2_uc010pcd.1_Splice_Site|TARS2_uc001eur.2_Splice_Site_p.G232_splice|TARS2_uc009wlt.2_Intron|TARS2_uc009wls.2_Intron NM_025150 NP_079426 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity ovary(1) 1 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) CAGTATATGGGTAAGAGTTGT 0.418 NA 51 237 0 0 0.01441 0 0 S100A13 6284 broad.mit.edu 37 1 153598847 153598847 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:153598847G>A uc001fcf.3 - 2 261 c.102C>T c.(100-102)AGC>AGT p.S34S S100A13_uc001fcg.2_Silent_p.S34S|S100A13_uc009woh.2_Silent_p.S34S|S100A13_uc001fch.2_Silent_p.S34S|S100A13_uc001fci.2_Silent_p.S34S|S100A13_uc001fcj.2_Silent_p.S34S|S100A1_uc001fck.1_5'Flank|S100A1_uc001fcl.1_5'Flank NM_001024213 NP_001019384 Q99584 S10AD_HUMAN S100 calcium binding protein A13 34 1.|EF-hand 1. interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|extracellular space|nucleus|perinuclear region of cytoplasm calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding 0 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) Amlexanox(DB01025) ACTCGTTGACGCTGAGGCTAT 0.532 NSCLC(156;1296 1989 17590 30930 49554) NA 49 512 0 0 0.01441 0 0 IL6R 3570 broad.mit.edu 37 1 154422396 154422396 + Missense_Mutation SNP A A T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:154422396A>T uc001fez.1 + 8 1443 c.1006A>T c.(1006-1008)ACT>TCT p.T336S IL6R_uc001ffa.1_Missense_Mutation_p.T336S NM_000565 NP_000556 P08887 IL6RA_HUMAN interleukin 6 receptor isoform 1 precursor 336 Extracellular (Potential). acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity ovary(3)|breast(1) 4 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GGCACTTACTACTAATAAAGA 0.343 NA 30 196 0 0 0.008361 0 0 ASH1L 55870 broad.mit.edu 37 1 155448829 155448829 + Nonsense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:155448829G>A uc009wqq.2 - 3 4312 c.3832C>T c.(3832-3834)CAG>TAG p.Q1278* ASH1L_uc001fkt.2_Nonsense_Mutation_p.Q1278*|ASH1L_uc009wqr.1_Nonsense_Mutation_p.Q1278* NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 1278 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TTTCGAAGCTGGGGATATTTC 0.378 NA 7 321 0 0 0.001984 0 0 FCRL5 83416 broad.mit.edu 37 1 157509129 157509129 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:157509129G>T uc001fqu.2 - 7 1307 c.1149C>A c.(1147-1149)AAC>AAA p.N383K FCRL5_uc009wsm.2_Missense_Mutation_p.N383K|FCRL5_uc010phv.1_Missense_Mutation_p.N383K|FCRL5_uc010phw.1_Missense_Mutation_p.N298K|FCRL5_uc001fqv.1_Missense_Mutation_p.N383K|FCRL5_uc010phx.1_Missense_Mutation_p.N134K NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 383 Extracellular (Potential).|Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) GAGAGCTGAGGTTGAGGACAG 0.433 NA 13 76 5.50884e-06 5.88819e-06 0.013537 1 0 SPTA1 6708 broad.mit.edu 37 1 158584068 158584068 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:158584068G>A uc001fst.1 - 49 7016 c.6817C>T c.(6817-6819)CTA>TTA p.L2273L NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2273 EF-hand 1. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) AATTCCTTTAGAGTCTCTTCA 0.274 NA 13 72 0 0 0.003163 0 0 SPTA1 6708 broad.mit.edu 37 1 158596650 158596650 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:158596650C>T uc001fst.1 - 41 6011 c.5812G>A c.(5812-5814)GAT>AAT p.D1938N NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1938 Spectrin 19. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TCTACCACATCAGCCTTCCAG 0.468 NA 4 144 0 0 0.009096 0 0 ATF6 22926 broad.mit.edu 37 1 161833091 161833091 + Missense_Mutation SNP T T G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:161833091T>G uc001gbr.2 + 14 1775 c.1708T>G c.(1708-1710)TCA>GCA p.S570A ATF6_uc001gbq.1_Missense_Mutation_p.S570A NM_007348 NP_031374 P18850 ATF6A_HUMAN activating transcription factor 6 570 Lumenal (Potential). positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|skin(1) 3 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) TTATGTTGTGTCATTTCGAAG 0.289 NA 4 98 0 0 0.009096 0 0 TNR 7143 broad.mit.edu 37 1 175360440 175360440 + Silent SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:175360440C>A uc001gkp.1 - 5 1572 c.1491G>T c.(1489-1491)TCG>TCT p.S497S TNR_uc009wwu.1_Silent_p.S497S NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 497 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) AGACGCTGGCCGAGGTAGGGG 0.547 NA 45 76 7.89702e-26 9.72151e-26 0.01441 1 0 TDRD5 163589 broad.mit.edu 37 1 179631407 179631407 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:179631407G>C uc001gnf.1 + 14 2579 c.2329G>C c.(2329-2331)GAA>CAA p.E777Q TDRD5_uc010pnp.1_Missense_Mutation_p.E831Q|TDRD5_uc001gnh.1_Missense_Mutation_p.E332Q NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 777 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding ovary(2)|skin(2)|central_nervous_system(1) 5 ATCATGTAAAGAAATGCCACA 0.303 NA 3 92 0 0 0.004672 0 0 GLT25D2 23127 broad.mit.edu 37 1 183908081 183908081 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:183908081C>A uc001gqr.2 - 12 2067 c.1695G>T c.(1693-1695)CAG>CAT p.Q565H GLT25D2_uc010poj.1_Intron|GLT25D2_uc001gqp.2_Missense_Mutation_p.Q173H|GLT25D2_uc001gqq.2_Missense_Mutation_p.Q302H|GLT25D2_uc001gqs.2_Missense_Mutation_p.Q445H NM_015101 NP_055916 Q8IYK4 GT252_HUMAN glycosyltransferase 25 domain containing 2 565 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity ovary(1)|breast(1) 2 GGTACCCCGGCTGGCCTGTGT 0.542 Esophageal Squamous(10;42 606 18489 38825) NA 51 138 5.82388e-19 6.9536e-19 0.01441 1 0 PLEKHA6 22874 broad.mit.edu 37 1 204228701 204228702 + Missense_Mutation DNP TC TC AA TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 TC TC - - TC TC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:204228701_204228702TC>AA uc001hau.2 - 8 1008_1009 c.691_692GA>TT c.(691-693)GAG>TTG p.E231L PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN phosphoinositol 3-phosphate-binding protein-3 231 Pro-rich. ovary(3)|pancreas(1) 4 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) CACCGGAGGCTCTTTCTTGACT 0.649 NA 22 114 0 0 0.004672 0 0 NUCKS1 64710 broad.mit.edu 37 1 205689671 205689671 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:205689671C>T uc001hdb.2 - 5 600 c.340G>A c.(340-342)GAG>AAG p.E114K NM_022731 NP_073568 Q9H1E3 NUCKS_HUMAN nuclear casein kinase and cyclin-dependent 114 nucleus 0 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) TGTTCTTCCTCACTGCCCACA 0.433 NA 13 150 0 0 0.001855 0 0 RAB7L1 8934 broad.mit.edu 37 1 205740776 205740776 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:205740776C>G uc001hdf.3 - 4 542 c.202G>C c.(202-204)GAG>CAG p.E68Q RAB7L1_uc009xbp.2_5'UTR|RAB7L1_uc001hde.3_Missense_Mutation_p.E68Q|RAB7L1_uc010prr.1_Missense_Mutation_p.E44Q|RAB7L1_uc009xbq.2_Intron NM_003929 NP_003920 O14966 RAB7L_HUMAN RAB7, member RAS oncogene family-like 1 isoform 68 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity|protein binding ovary(1) 1 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0194) GTGAAGCGCTCCTGCCCTGGG 0.483 Pancreas(25;658 872 27763 34889 38531) NA 45 134 0 0 0.011902 0 0 CR1 1378 broad.mit.edu 37 1 207751391 207751391 + Silent SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:207751391G>T uc001hfy.2 + 21 3569 c.3429G>T c.(3427-3429)GTG>GTT p.V1143V CR1_uc009xcl.1_Silent_p.V693V|CR1_uc001hfx.2_Silent_p.V1593V NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 1143 Extracellular (Potential).|Sushi 18. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 CTCCAAATGTGGAAAATGGAA 0.483 NA 20 162 6.53348e-20 7.85337e-20 0.003755 1 0 USH2A 7399 broad.mit.edu 37 1 215848937 215848937 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:215848937C>T uc001hku.1 - 63 12703 c.12316G>A c.(12316-12318)GGG>AGG p.G4106R NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4106 Fibronectin type-III 26.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCCAGGAACCCGTCACTGAAG 0.473 NA HNSCC(13;0.011) 9 72 0 0 0.006214 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227441855 227441855 + Silent SNP A A G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:227441855A>G uc001hqr.2 - 2 1123 c.180T>C c.(178-180)GCT>GCC p.A60A CDC42BPA_uc001hqs.2_Silent_p.A60A|CDC42BPA_uc009xes.2_Silent_p.A60A|CDC42BPA_uc010pvs.1_Silent_p.A60A NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN CDC42-binding protein kinase alpha isoform B 60 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1) 11 all_cancers(173;0.156)|Prostate(94;0.0792) TAAATGGTTTAGCTGAAATGA 0.284 NA 7 54 0 0 0.004482 0 0 KIAA1804 84451 broad.mit.edu 37 1 233514864 233514864 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:233514864G>T uc001hvt.3 + 9 2373 c.2112G>T c.(2110-2112)ATG>ATT p.M704I KIAA1804_uc001hvu.3_Missense_Mutation_p.M150I NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN mixed lineage kinase 4 704 activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity lung(5)|central_nervous_system(2)|skin(1) 8 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) CCATTGAGATGACTCCTACGA 0.537 NA 16 76 4.7796e-09 5.23411e-09 0.004656 1 0 RYR2 6262 broad.mit.edu 37 1 237774276 237774276 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:237774276C>A uc001hyl.1 + 36 5018 c.4898C>A c.(4897-4899)CCT>CAT p.P1633H NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1633 Cytoplasmic (By similarity).|4 X approximate repeats. 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) CTTCATATCCCTGAGGAAAAC 0.542 NA 20 30 7.41877e-09 8.09939e-09 0.012319 1 0 CHRM3 1131 broad.mit.edu 37 1 240071333 240071333 + Silent SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:240071333C>A uc001hyp.2 + 5 1361 c.582C>A c.(580-582)GTC>GTA p.V194V NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 194 Helical; Name=4; (By similarity). cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) TGGCTTGGGTCATCTCCTTTG 0.507 NA 8 698 1.76689e-08 1.91727e-08 0.006214 1 0 ZNF669 79862 broad.mit.edu 37 1 247265290 247265290 + Silent SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:247265290T>C uc001ice.2 - 2 560 c.387A>G c.(385-387)GTA>GTG p.V129V ZNF669_uc001icf.2_Silent_p.V43V NM_024804 NP_079080 Q96BR6 ZN669_HUMAN zinc finger protein 669 isoform 1 129 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00427) CATTCTTACCTACAGAAGCCA 0.408 NA 62 65 0 0 0.01441 0 0 OR2C3 81472 broad.mit.edu 37 1 247695011 247695011 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:247695011G>C uc009xgy.2 - 2 1165 c.803C>G c.(802-804)TCC>TGC p.S268C C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank NM_198074 NP_932340 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, 268 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) CTGCTCATGGGAGGTGCTCTT 0.532 NA 7 107 0 0 0.006214 0 0 ITIH2 3698 broad.mit.edu 37 10 7755192 7755192 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr10:7755192G>A uc001ijs.2 + 5 573 c.411G>A c.(409-411)GTG>GTA p.V137V NM_002216 NP_002207 P19823 ITIH2_HUMAN inter-alpha globulin inhibitor H2 polypeptide 137 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(1)|pancreas(1)|skin(1) 3 AGAAAACTGTGGGCCGAGCTC 0.478 NA 27 80 0 0 0.00632 0 0 ACBD5 91452 broad.mit.edu 37 10 27512279 27512279 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr10:27512279C>T uc010qdp.1 - 5 669 c.478G>A c.(478-480)GAT>AAT p.D160N ACBD5_uc010qdm.1_Missense_Mutation_p.D158N|ACBD5_uc010qdn.1_Missense_Mutation_p.D51N|ACBD5_uc010qdo.1_Missense_Mutation_p.D51N|ACBD5_uc001ito.2_Missense_Mutation_p.D125N|ACBD5_uc001itp.2_Missense_Mutation_p.D51N|ACBD5_uc001itq.2_Missense_Mutation_p.D51N|ACBD5_uc001itr.1_5'UTR NM_145698 NP_663736 Q5T8D3 ACBD5_HUMAN acyl-Coenzyme A binding domain containing 5 158 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding 0 GAGGTTATATCAGAACTCCTG 0.313 NA 4 90 0 0 0.009096 0 0 WAC 51322 broad.mit.edu 37 10 28905133 28905133 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr10:28905133C>T uc001iuf.2 + 12 1673 c.1588C>T c.(1588-1590)CAT>TAT p.H530Y WAC_uc001iud.2_Missense_Mutation_p.H485Y|WAC_uc001iue.2_Missense_Mutation_p.H220Y|WAC_uc001iug.2_Missense_Mutation_p.H427Y|WAC_uc001iuh.2_Missense_Mutation_p.H481Y NM_016628 NP_057712 Q9BTA9 WAC_HUMAN WW domain-containing adapter with a coiled-coil 530 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding large_intestine(1)|ovary(1) 2 TGGTCCCAATCATACTTCTAA 0.408 NA 17 170 0 0 0.007413 0 0 C10orf25 220979 broad.mit.edu 37 10 45496131 45496131 + Nonsense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr10:45496131G>T uc001jbv.1 - 1 206 c.177C>A c.(175-177)TAC>TAA p.Y59* C10orf25_uc010qff.1_RNA|ZNF22_uc001jbw.2_5'Flank NM_001039380 NP_001034469 Q5T742 CJ025_HUMAN hypothetical protein LOC220979 precursor 59 extracellular region 0 TTTGTGGAAAGTATGCAGTTT 0.333 NA 12 55 6.72482e-11 7.54957e-11 0.003163 1 0 LRRTM3 347731 broad.mit.edu 37 10 68686790 68686790 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr10:68686790G>A uc001jmz.1 + 2 666 c.116G>A c.(115-117)AGG>AAG p.R39K CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.R39K NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 39 Extracellular (Potential).|LRRNT. integral to membrane upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 AAGGGCTGTAGGTGTGAAGGC 0.463 NA 9 84 0 0 0.006214 0 0 PPP3CB 5532 broad.mit.edu 37 10 75198098 75198098 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr10:75198098G>A uc001jue.2 - 14 1612 c.1477C>T c.(1477-1479)CCA>TCA p.P493S PPP3CB_uc001juf.2_Missense_Mutation_p.P494S|PPP3CB_uc001jug.2_Missense_Mutation_p.P484S|PPP3CB_uc010qkj.1_Missense_Mutation_p.P121S NM_021132 NP_066955 P16298 PP2BB_HUMAN protein phosphatase 3, catalytic subunit, beta 493 Inhibitory domain. skin(1) 1 Prostate(51;0.0119) TTCCGAGGTGGCATTCTCTCA 0.463 NA 4 147 0 0 0.009096 0 0 DYDC2 84332 broad.mit.edu 37 10 82126613 82126613 + Missense_Mutation SNP A A T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr10:82126613A>T uc001kca.1 + 5 820 c.440A>T c.(439-441)CAG>CTG p.Q147L DYDC2_uc001kbz.1_RNA|DYDC2_uc001kcb.1_Missense_Mutation_p.Q147L NM_032372 NP_115748 Q96IM9 DYDC2_HUMAN DPY30 domain containing 2 147 protein binding 0 Colorectal(32;0.229) CAGATTGACCAGAACTTCAAA 0.458 NA 60 155 0 0 0.01441 0 0 RNLS 55328 broad.mit.edu 37 10 90332672 90332672 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr10:90332672C>A uc001kfe.2 - 4 649 c.514G>T c.(514-516)GAC>TAC p.D172Y RNLS_uc010qms.1_Missense_Mutation_p.D89Y|RNLS_uc001kfd.2_Missense_Mutation_p.D172Y NM_001031709 NP_001026879 Q5VYX0 RNLS_HUMAN renalase isoform 1 172 extracellular region oxidoreductase activity ovary(1) 1 GTGGTGATGTCACCTTGAAGC 0.438 NA 10 61 1.61879e-10 1.80596e-10 0.013537 1 0 SORBS1 10580 broad.mit.edu 37 10 97174268 97174268 + Nonsense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr10:97174268C>A uc001kkp.2 - 7 838 c.793G>T c.(793-795)GGA>TGA p.G265* SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Nonsense_Mutation_p.G265*|SORBS1_uc001kkq.2_Nonsense_Mutation_p.G196*|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Nonsense_Mutation_p.G233*|SORBS1_uc001kkw.2_Nonsense_Mutation_p.G265*|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Nonsense_Mutation_p.G463*|SORBS1_uc001kkx.1_Nonsense_Mutation_p.G233* NM_001034954 NP_001030126 Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 isoform 3 265 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity breast(1) 1 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) GAAACAGCTCCCGTGAGGTCA 0.602 NA 38 89 9.8876e-21 1.19657e-20 0.004878 1 0 LOXL4 84171 broad.mit.edu 37 10 100021845 100021845 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr10:100021845G>A uc001kpa.1 - 3 554 c.403C>T c.(403-405)CGG>TGG p.R135W NM_032211 NP_115587 Q96JB6 LOXL4_HUMAN lysyl oxidase-like 4 precursor 135 extracellular space|membrane copper ion binding|protein binding|scavenger receptor activity ovary(3)|breast(1)|skin(1) 5 Colorectal(252;0.234) Epithelial(162;2.14e-11)|all cancers(201;2.49e-09) CGATGGCGCCGGGGGTGGCAT 0.602 NA 4 31 0 0 0.000602 0 0 C10orf26 54838 broad.mit.edu 37 10 104573073 104573073 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr10:104573073C>G uc001kwe.3 + 4 1274 c.1014C>G c.(1012-1014)AGC>AGG p.S338R C10orf26_uc001kwf.3_Missense_Mutation_p.S359R|C10orf26_uc009xxg.1_Intron NM_017787 NP_060257 Q9NX94 OPA1L_HUMAN hypothetical protein LOC54838 isoform 2 338 Poly-Ser. integral to membrane central_nervous_system(1) 1 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;6.14e-09)|all cancers(201;1.66e-07)|BRCA - Breast invasive adenocarcinoma(275;0.224) CCCAGAGCAGCAGCTCCCCCA 0.612 NA 11 26 0 0 0.013537 0 0 SORCS1 114815 broad.mit.edu 37 10 108431055 108431055 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr10:108431055C>T uc001kym.2 - 16 2137 c.2129G>A c.(2128-2130)GGA>GAA p.G710E SORCS1_uc001kyl.2_Missense_Mutation_p.G710E|SORCS1_uc009xxs.2_Missense_Mutation_p.G710E|SORCS1_uc001kyn.1_Missense_Mutation_p.G710E|SORCS1_uc001kyo.2_Missense_Mutation_p.G710E NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 710 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TGCATATTTTCCTTGCATACA 0.438 NA 5 124 0 0 0.000602 0 0 C10orf119 79892 broad.mit.edu 37 10 121591603 121591603 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr10:121591603C>G uc001ler.2 - 15 2021 c.1723G>C c.(1723-1725)GAT>CAT p.D575H C10orf119_uc001leq.1_Missense_Mutation_p.D400H|C10orf119_uc001les.1_Missense_Mutation_p.D400H NM_024834 NP_079110 Q9BTE3 MCMBP_HUMAN chromosome 10 open reading frame 119 575 cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion nucleus chromatin binding 0 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.0044) ACAAAGTCATCTTCAACTGCC 0.428 NA 19 82 0 0 0.008871 0 0 MUC2 4583 broad.mit.edu 37 11 1078320 1078320 + Missense_Mutation SNP G G A rs72652894 TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:1078320G>A uc001lsx.1 + 5 634 c.607G>A c.(607-609)GAT>AAT p.D203N NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 203 VWFD 1. inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CAACCAGCCCGATGTGGTGTG 0.672 NA 21 109 0 0 0.003954 0 0 MUC5B 727897 broad.mit.edu 37 11 1265896 1265896 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:1265896C>T uc009ycr.1 + 48 9826 c.9700C>T c.(9700-9702)CCC>TCC p.P3234S MUC5B_uc001ltb.2_Missense_Mutation_p.P2599S NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 2596 7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. 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) TGTGGCCACCCCCTCCTCCAC 0.652 NA 9 73 0 0 0.00245 0 0 MUC5B 727897 broad.mit.edu 37 11 1273700 1273700 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:1273700G>A uc009ycr.1 + 53 16083 c.15957G>A c.(15955-15957)CCG>CCA p.P5319P MUC5B_uc001ltb.2_Silent_p.P5000P NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 4997 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) CCTCCGCCCCGCTGTCCTCGC 0.687 NA 6 18 0 0 0.00245 0 0 ZNF195 7748 broad.mit.edu 37 11 3381328 3381328 + Nonsense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:3381328C>A uc001lxt.2 - 6 1088 c.910G>T c.(910-912)GAA>TAA p.E304* uc001lxr.2_5'Flank|ZNF195_uc001lxv.2_Nonsense_Mutation_p.E281*|ZNF195_uc001lxs.2_Nonsense_Mutation_p.E232*|ZNF195_uc010qxr.1_Nonsense_Mutation_p.E285*|ZNF195_uc009ydz.2_Nonsense_Mutation_p.E259*|ZNF195_uc001lxu.2_Nonsense_Mutation_p.E236* NM_001130520 NP_001123992 O14628 ZN195_HUMAN zinc finger protein 195 isoform 1 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) TTGTTACATTCTTGACACTTG 0.368 NA 24 132 1.1804e-14 1.37713e-14 0.003954 1 0 ART5 116969 broad.mit.edu 37 11 3661475 3661475 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:3661475C>T uc001lyb.1 - 2 577 c.184G>A c.(184-186)GCC>ACC p.A62T ART5_uc001lyc.1_Missense_Mutation_p.A62T|ART5_uc001lyd.2_Missense_Mutation_p.A62T|ART5_uc009yea.2_Missense_Mutation_p.A62T NM_053017 NP_443750 Q96L15 NAR5_HUMAN ADP-ribosyltransferase 5 precursor 62 extracellular region NAD(P)+-protein-arginine ADP-ribosyltransferase activity ovary(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19) CGCAGCAGGGCATGGTGGGCC 0.607 NA 18 42 0 0 0.012319 0 0 OR2AG2 338755 broad.mit.edu 37 11 6789999 6789999 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:6789999C>A uc001meq.1 - 1 190 c.190G>T c.(190-192)GGG>TGG p.G64W NM_001004490 NP_001004490 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, 64 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GAGAGCTGCCCAAGCAGGAGG 0.532 NA 35 138 3.09479e-21 3.75796e-21 0.006999 1 0 OR10A4 283297 broad.mit.edu 37 11 6898297 6898297 + Missense_Mutation SNP T T A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:6898297T>A uc010rat.1 + 1 419 c.419T>A c.(418-420)ATA>AAA p.I140K NM_207186 NP_997069 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, 140 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ATGGGCCACATATCCTGTGCC 0.552 NA 12 47 0 0 0.010729 0 0 NLRP10 338322 broad.mit.edu 37 11 7982783 7982784 + Missense_Mutation DNP GG GG CT TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:7982783_7982784GG>CT uc001mfv.1 - 2 392_393 c.375_376CC>AG c.(373-378)CTCCTG>CTAGTG p.L126V NM_176821 NP_789791 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 126 ATP binding lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1) 9 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TTGGCCACCAGGAGCACCTGGT 0.55 NA 13 96 0 0 0.004672 0 0 RIC3 79608 broad.mit.edu 37 11 8159825 8159825 + Missense_Mutation SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:8159825T>C uc001mgd.2 - 3 475 c.421A>G c.(421-423)AAA>GAA p.K141E RIC3_uc001mgb.2_5'UTR|RIC3_uc001mgc.2_Missense_Mutation_p.K141E|RIC3_uc001mge.2_Intron|RIC3_uc010rbl.1_Missense_Mutation_p.K91E|RIC3_uc010rbm.1_Missense_Mutation_p.K141E|RIC3_uc009yfm.2_Missense_Mutation_p.K141E|RIC3_uc009yfn.2_Intron NM_024557 NP_078833 Q7Z5B4 RIC3_HUMAN resistance to inhibitors of cholinesterase 3 141 Potential.|Cytoplasmic (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to membrane large_intestine(1)|ovary(1)|pancreas(1) 3 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) TTACTAATTTTCCTGTGGGTG 0.423 NA 74 241 0 0 0.01441 0 0 EIF4G2 1982 broad.mit.edu 37 11 10821641 10821641 + Silent SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:10821641G>C uc001mjc.2 - 18 2532 c.2115C>G c.(2113-2115)CTC>CTG p.L705L EIF4G2_uc001mjb.2_Silent_p.L499L|EIF4G2_uc009ygf.2_Silent_p.L499L|EIF4G2_uc001mjd.2_Silent_p.L667L NM_001418 NP_001409 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 705 cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) TCTTACCTGGGAGCATTTTCT 0.353 NA 4 108 0 0 0.009096 0 0 LDHAL6A 160287 broad.mit.edu 37 11 18497989 18497989 + Silent SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:18497989T>C uc001mop.1 + 6 912 c.651T>C c.(649-651)GAT>GAC p.D217D LDHAL6A_uc001moq.2_Silent_p.D217D NM_001144071 NP_001137543 Q6ZMR3 LDH6A_HUMAN lactate dehydrogenase A-like 6A 217 glycolysis cytoplasm binding|L-lactate dehydrogenase activity 0 NADH(DB00157) TGAACCCAGATATAGGAACTG 0.413 NA 17 113 0 0 0.008871 0 0 LIN7C 55327 broad.mit.edu 37 11 27528274 27528274 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:27528274C>G uc001mrl.2 - 1 53 c.26G>C c.(25-27)CGG>CCG p.R9P LIN7C_uc009yii.2_Missense_Mutation_p.R9P|BDNFOS_uc001mrm.2_5'Flank|BDNFOS_uc009yij.2_5'Flank|BDNFOS_uc009yik.2_5'Flank|BDNFOS_uc009yil.2_5'Flank|BDNFOS_uc001mrp.2_5'Flank|BDNFOS_uc009yim.2_5'Flank|BDNFOS_uc009yin.2_5'Flank|BDNFOS_uc009yio.2_5'Flank|BDNFOS_uc009yip.2_5'Flank|BDNFOS_uc001mrn.2_5'Flank|BDNFOS_uc009yiq.2_5'Flank|BDNFOS_uc001mro.2_5'Flank|BDNFOS_uc009yir.2_5'Flank|BDNFOS_uc009yis.2_5'Flank|BDNFOS_uc009yit.2_5'Flank|BDNFOS_uc009yiu.2_5'Flank|BDNFOS_uc009yiv.2_5'Flank|BDNFOS_uc009yiw.2_5'Flank|BDNFOS_uc009yix.2_5'Flank|BDNFOS_uc009yiy.2_5'Flank|BDNFOS_uc009yiz.2_5'Flank|BDNFOS_uc001mrq.3_5'Flank|BDNFOS_uc001mrr.3_5'Flank|BDNFOS_uc009yja.2_5'Flank|BDNFOS_uc009yjb.2_5'Flank NM_018362 NP_060832 Q9NUP9 LIN7C_HUMAN lin-7 homolog C 9 Kinase interacting site (By similarity). exocytosis|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction 0 TCTCTCCAGCCGCACGGGTTC 0.667 NA 14 72 0 0 0.004007 0 0 C11orf46 120534 broad.mit.edu 37 11 30352809 30352809 + Missense_Mutation SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:30352809T>C uc001mso.1 + 2 478 c.314T>C c.(313-315)TTT>TCT p.F105S NM_152316 NP_689529 Q8N8R7 CK046_HUMAN hypothetical protein LOC120534 105 0 AGTGCTAAATTTGGAAGACAG 0.378 NA 10 86 0 0 0.013537 0 0 TTC17 55761 broad.mit.edu 37 11 43411267 43411267 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:43411267G>C uc001mxi.2 + 3 329 c.315G>C c.(313-315)CAG>CAC p.Q105H TTC17_uc001mxh.2_Missense_Mutation_p.Q105H|TTC17_uc010rfj.1_Missense_Mutation_p.Q48H NM_018259 NP_060729 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 105 binding ovary(5) 5 GACTGGAACAGAGACATAATA 0.403 NA 7 122 0 0 0.00308 0 0 TTC17 55761 broad.mit.edu 37 11 43411289 43411289 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:43411289G>A uc001mxi.2 + 3 351 c.337G>A c.(337-339)GAC>AAC p.D113N TTC17_uc001mxh.2_Missense_Mutation_p.D113N|TTC17_uc010rfj.1_Missense_Mutation_p.D56N NM_018259 NP_060729 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 113 binding ovary(5) 5 AGAAGACCCAGACTGCATCAA 0.408 NA 13 145 0 0 0.00245 0 0 MYBPC3 4607 broad.mit.edu 37 11 47364614 47364614 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:47364614C>T uc001nfa.3 - 14 1364 c.1309G>A c.(1309-1311)GTG>ATG p.V437M MYBPC3_uc010rhl.1_RNA NM_000256 NP_000247 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 436 Ig-like C2-type 2. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding ovary(2)|central_nervous_system(1) 3 Lung(87;0.176) CCACCCACCACGCACTGGTAG 0.627 NA 4 14 0 0 0.000602 0 0 OR4A15 81328 broad.mit.edu 37 11 55136023 55136023 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:55136023G>T uc010rif.1 + 1 664 c.664G>T c.(664-666)GTC>TTC p.V222F NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 222 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CAATACCTATGTCACTGGGCT 0.418 NA 15 96 8.60227e-14 9.97082e-14 0.004007 1 0 OR5M9 390162 broad.mit.edu 37 11 56230488 56230488 + Silent SNP A A G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:56230488A>G uc010rjj.1 - 1 390 c.390T>C c.(388-390)TAT>TAC p.Y130Y NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, 130 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) TTTTACTGCCATAAAGCAGAG 0.483 NA 34 42 0 0 0.005524 0 0 AHNAK 79026 broad.mit.edu 37 11 62300197 62300197 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:62300197G>A uc001ntl.2 - 5 1992 c.1692C>T c.(1690-1692)ACC>ACT p.T564T AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 564 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TACAGGTTCCGGTTTTCCCGG 0.517 NA 35 88 0 0 0.004289 0 0 POLR2G 5436 broad.mit.edu 37 11 62532822 62532822 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:62532822C>T uc001nva.2 + 5 454 c.344C>T c.(343-345)TCA>TTA p.S115L POLR2G_uc001nvb.2_RNA NM_002696 NP_002687 P62487 RPB7_HUMAN DNA directed RNA polymerase II polypeptide G 115 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA-directed RNA polymerase activity|protein binding|RNA binding 0 TCCATCCCTTCAGAGATGGAG 0.458 NA 37 198 0 0 0.00623 0 0 SART1 9092 broad.mit.edu 37 11 65732040 65732040 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:65732040G>C uc001ogl.2 + 3 518 c.426G>C c.(424-426)AAG>AAC p.K142N SART1_uc010rot.1_5'UTR NM_005146 NP_005137 O43290 SNUT1_HUMAN squamous cell carcinoma antigen recognized by T 142 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol ovary(1) 1 CCATCAAGAAGGGTGAGTATG 0.507 NA 23 115 0 0 0.014323 0 0 PPFIA1 8500 broad.mit.edu 37 11 70184483 70184483 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:70184483C>G uc001opo.2 + 13 1693 c.1495C>G c.(1495-1497)CAG>GAG p.Q499E PPFIA1_uc001opn.1_Missense_Mutation_p.Q499E|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 499 Potential. cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) TCTGTAGGATCAGCTTGTCCT 0.408 NA 5 173 0 0 0.000602 0 0 PDE2A 5138 broad.mit.edu 37 11 72290425 72290425 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:72290425G>A uc010rrc.1 - 27 2502 c.2259C>T c.(2257-2259)GAC>GAT p.D753D PDE2A_uc001oso.2_Silent_p.D732D|PDE2A_uc010rra.1_Silent_p.D746D|PDE2A_uc001osn.2_Silent_p.D497D|PDE2A_uc010rrb.1_Silent_p.D744D|PDE2A_uc010rrd.1_Silent_p.D638D NM_002599 NP_002590 O00408 PDE2A_HUMAN phosphodiesterase 2A isoform 1 753 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(2)|breast(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) TGCGCTGATAGTCCTGAGGCG 0.572 NA 31 65 0 0 0.008361 0 0 TSKU 25987 broad.mit.edu 37 11 76507537 76507537 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:76507537C>G uc001oxt.2 + 2 1049 c.877C>G c.(877-879)CCC>GCC p.P293A NM_015516 NP_056331 Q8WUA8 TSK_HUMAN tsukushin precursor 293 LRR 10. extracellular region 0 Ovarian(111;0.112) CAACCTGGTGCCCCTGCCTGA 0.682 NA 19 23 0 0 0.003954 0 0 FAT3 120114 broad.mit.edu 37 11 92534374 92534374 + Missense_Mutation SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:92534374T>C uc001pdj.3 + 9 8212 c.8195T>C c.(8194-8196)ATT>ACT p.I2732T NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2732 Extracellular (Potential).|Cadherin 25. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ACCCTGAGGATTTTGCCCAGT 0.468 NA TCGA Ovarian(4;0.039) 4 26 0 0 0.000602 0 0 DSCAML1 57453 broad.mit.edu 37 11 117647510 117647510 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:117647510G>A uc001prh.1 - 3 689 c.687C>T c.(685-687)ATC>ATT p.I229I DSCAML1_uc001pri.1_Silent_p.I33I NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 169 Extracellular (Potential).|Ig-like C2-type 2. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) TCTTACCTGGGATGATGGAGA 0.537 NA 7 83 0 0 0.004482 0 0 ATP5L 10632 broad.mit.edu 37 11 118279753 118279753 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:118279753G>T uc001psx.2 + 3 529 c.252G>T c.(250-252)TTG>TTT p.L84F NM_006476 NP_006467 O75964 ATP5L_HUMAN ATP synthase, H+ transporting, mitochondrial F0 84 ATP catabolic process|respiratory electron transport chain mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity|protein binding 0 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05) CTGAGGTGTTGATGTGGTTTT 0.323 NA 18 26 2.21704e-12 2.52869e-12 0.00278 1 0 TECTA 7007 broad.mit.edu 37 11 120996139 120996139 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:120996139C>T uc010rzo.1 + 7 1332 c.1332C>T c.(1330-1332)TAC>TAT p.Y444Y NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 444 VWFD 1. 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) GCCAGCACTACGCCTCCATTT 0.488 NA 247 294 0 0 0.01441 0 0 VWA5A 4013 broad.mit.edu 37 11 124007327 124007327 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:124007327G>C uc001pzu.2 + 14 1780 c.1571G>C c.(1570-1572)GGC>GCC p.G524A VWA5A_uc001pzt.2_Missense_Mutation_p.G524A NM_001130142 NP_001123614 O00534 VMA5A_HUMAN BCSC-1 isoform 1 524 upper_aerodigestive_tract(1)|ovary(1) 2 ACACTCCAGGGCAAGACTTTT 0.358 NA 86 92 0 0 0.01441 0 0 IQSEC3 440073 broad.mit.edu 37 12 248332 248332 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:248332C>G uc001qhw.1 + 1 900 c.894C>G c.(892-894)AGC>AGG p.S298R IQSEC3_uc001qhu.1_Missense_Mutation_p.S298R|IQSEC3_uc001qht.1_Missense_Mutation_p.S383R|uc001qhv.1_Intron NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 601 Poly-Ser. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) GCAGCAGCAGCACGTCCACCA 0.572 NA 3 3 0 0 0.00308 0 0 CACNA1C 775 broad.mit.edu 37 12 2614019 2614019 + Silent SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:2614019C>G uc009zdu.1 + 8 1438 c.1125C>G c.(1123-1125)GCC>GCG p.A375A CACNA1C_uc009zdv.1_Silent_p.A372A|CACNA1C_uc001qkb.2_Silent_p.A375A|CACNA1C_uc001qkc.2_Silent_p.A375A|CACNA1C_uc001qke.2_Silent_p.A375A|CACNA1C_uc001qkf.2_Silent_p.A375A|CACNA1C_uc001qjz.2_Silent_p.A375A|CACNA1C_uc001qkd.2_Silent_p.A375A|CACNA1C_uc001qkg.2_Silent_p.A375A|CACNA1C_uc009zdw.1_Silent_p.A375A|CACNA1C_uc001qkh.2_Silent_p.A375A|CACNA1C_uc001qkl.2_Silent_p.A375A|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qko.2_Silent_p.A375A|CACNA1C_uc001qkp.2_Silent_p.A375A|CACNA1C_uc001qkr.2_Silent_p.A375A|CACNA1C_uc001qku.2_Silent_p.A375A|CACNA1C_uc001qkq.2_Silent_p.A375A|CACNA1C_uc001qks.2_Silent_p.A375A|CACNA1C_uc001qkt.2_Silent_p.A375A|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Intron|CACNA1C_uc001qkj.1_Intron|CACNA1C_uc001qkk.1_Intron|CACNA1C_uc001qkm.1_Intron|CACNA1C_uc009zdy.1_Intron|CACNA1C_uc001qkv.1_5'UTR NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 375 I.|Extracellular (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TCAATGATGCCGTAGGAAGGG 0.522 NA 7 37 0 0 0.004482 0 0 GALNT8 26290 broad.mit.edu 37 12 4872447 4872447 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:4872447C>G uc001qne.1 + 8 1480 c.1388C>G c.(1387-1389)TCT>TGT p.S463C NM_017417 NP_059113 Q9NY28 GALT8_HUMAN polypeptide N-acetylgalactosaminyltransferase 8 463 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(1)|skin(1) 4 GGAGACGTTTCTTCCAGAATG 0.363 Colon(108;631 1558 7270 20097 39846) NA 5 119 0 0 0.001168 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19501350 19501350 + Silent SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:19501350C>G uc001reb.2 + 19 2504 c.2418C>G c.(2416-2418)CTC>CTG p.L806L PLEKHA5_uc010sie.1_Silent_p.L967L|PLEKHA5_uc001rea.2_Silent_p.L864L|PLEKHA5_uc009zin.2_Silent_p.L564L|PLEKHA5_uc010sif.1_Silent_p.L795L|PLEKHA5_uc010sig.1_Silent_p.L788L|PLEKHA5_uc010sih.1_Silent_p.L761L|PLEKHA5_uc001rec.1_Silent_p.L615L|PLEKHA5_uc009zio.2_Intron NM_019012 NP_061885 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A 806 1-phosphatidylinositol binding|protein binding ovary(1)|kidney(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) ATTATAGACTCTACAAGAGTG 0.338 Pancreas(196;329 2193 11246 14234 19524) NA 3 122 0 0 0.004672 0 0 PYROXD1 79912 broad.mit.edu 37 12 21614019 21614019 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:21614019G>A uc001rew.2 + 8 938 c.811G>A c.(811-813)GAG>AAG p.E271K PYROXD1_uc009ziq.2_Missense_Mutation_p.E12K|PYROXD1_uc009zir.2_5'UTR NM_024854 NP_079130 Q8WU10 PYRD1_HUMAN pyridine nucleotide-disulphide oxidoreductase 271 oxidoreductase activity ovary(1) 1 CCTTCAGGATGAGTTTAGAAT 0.294 NA 7 37 0 0 0.00308 0 0 NELL2 4753 broad.mit.edu 37 12 45169914 45169914 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:45169914C>T uc001rog.2 - 8 1377 c.782G>A c.(781-783)CGA>CAA p.R261Q NELL2_uc001rof.3_Missense_Mutation_p.R260Q|NELL2_uc001roh.2_Missense_Mutation_p.R261Q|NELL2_uc009zkd.2_Missense_Mutation_p.R260Q|NELL2_uc010skz.1_Missense_Mutation_p.R311Q|NELL2_uc010sla.1_Missense_Mutation_p.R284Q|NELL2_uc001roi.1_Missense_Mutation_p.R261Q|NELL2_uc010slb.1_Missense_Mutation_p.R260Q|NELL2_uc001roj.2_Missense_Mutation_p.R261Q NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 261 cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) TCTATTCATTCGCTGTTCAGC 0.453 NA 5 86 0 0 0.001168 0 0 DDX23 9416 broad.mit.edu 37 12 49231355 49231355 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:49231355C>T uc001rsm.2 - 7 796 c.705G>A c.(703-705)CAG>CAA p.Q235Q NM_004818 NP_004809 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 235 Glu-rich. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding kidney(3)|ovary(1)|lung(1)|skin(1) 6 CCCGGATCTTCTGCCGCCCTT 0.517 NA 10 117 0 0 0.006214 0 0 LARP4 113251 broad.mit.edu 37 12 50829374 50829374 + Missense_Mutation SNP A A G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:50829374A>G uc001rwp.1 + 5 646 c.502A>G c.(502-504)ACA>GCA p.T168A LARP4_uc001rwo.1_Missense_Mutation_p.T174A|LARP4_uc001rwq.1_Missense_Mutation_p.T168A|LARP4_uc001rwr.1_Missense_Mutation_p.T168A|LARP4_uc001rws.1_Missense_Mutation_p.T167A|LARP4_uc009zlr.1_5'Flank|LARP4_uc001rwm.2_Missense_Mutation_p.T168A|LARP4_uc001rwn.2_Missense_Mutation_p.T98A NM_052879 NP_443111 Q71RC2 LARP4_HUMAN c-Mpl binding protein isoform a 168 HTH La-type RNA-binding. nucleotide binding|RNA binding ovary(1) 1 AAAGTTGACTACAGACCCTGA 0.294 NA 35 70 0 0 0.004289 0 0 KRT73 319101 broad.mit.edu 37 12 53012171 53012171 + Silent SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:53012171C>G uc001sas.2 - 1 173 c.138G>C c.(136-138)CGG>CGC p.R46R NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 46 Head.|Gly-rich. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) TGTAAAGGCTCCGACTGCTGA 0.662 NA 4 132 0 0 0.001168 0 0 KRT4 3851 broad.mit.edu 37 12 53202129 53202129 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:53202129G>A uc001saz.2 - 6 1567 c.1296C>T c.(1294-1296)CTC>CTT p.L432L NM_002272 NP_002263 B4DRS2 B4DRS2_HUMAN keratin 4 358 keratin filament structural molecule activity ovary(4)|skin(2) 6 TCATCCTGTTGAGCTCTGCAA 0.537 Pancreas(190;284 2995 41444 45903) NA 68 169 0 0 0.01441 0 0 OR6C1 390321 broad.mit.edu 37 12 55714574 55714574 + Missense_Mutation SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:55714574T>C uc010spi.1 + 1 191 c.191T>C c.(190-192)TTC>TCC p.F64S NM_001005182 NP_001005182 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, 64 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 CTCAGAAATTTCTCCATATTA 0.403 NA 15 48 0 0 0.003163 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72036255 72036255 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:72036255C>T uc001swo.2 - 6 1947 c.1588G>A c.(1588-1590)GAA>AAA p.E530K NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 530 RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 ATAGCAACTTCTTCATAGTTA 0.368 NA 40 113 0 0 0.006999 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72050808 72050808 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:72050808G>A uc001swo.2 - 2 1231 c.872C>T c.(871-873)ACA>ATA p.T291I ZFC3H1_uc010sts.1_Missense_Mutation_p.T291I|ZFC3H1_uc001swp.2_Missense_Mutation_p.T291I NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 291 RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 TTTGACTTGTGTTTTCTCCTC 0.363 NA 32 105 0 0 0.010818 0 0 NAV3 89795 broad.mit.edu 37 12 78562616 78562616 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:78562616G>T uc001syp.2 + 24 5124 c.4951G>T c.(4951-4953)GCA>TCA p.A1651S NAV3_uc001syo.2_Missense_Mutation_p.A1651S|NAV3_uc010sub.1_Missense_Mutation_p.A1137S|NAV3_uc009zsf.2_Missense_Mutation_p.A482S NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1651 Potential. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TATTCAGGGAGCACTGAATGG 0.373 NA HNSCC(70;0.22) 10 16 6.42651e-13 7.37706e-13 0.010729 1 0 HVCN1 84329 broad.mit.edu 37 12 111099152 111099152 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:111099152G>A uc001trs.1 - 4 288 c.123C>T c.(121-123)AAC>AAT p.N41N HVCN1_uc001trq.1_Silent_p.N41N|HVCN1_uc001trt.1_Silent_p.N41N|HVCN1_uc010syd.1_Silent_p.N21N NM_032369 NP_115745 Q96D96 HVCN1_HUMAN hydrogen voltage-gated channel 1 41 Cytoplasmic (Potential). response to pH|response to zinc ion integral to membrane voltage-gated proton channel activity skin(1) 1 ATTTCTTGTAGTTGATGTTCC 0.498 NA 19 61 0 0 0.012319 0 0 RBM19 9904 broad.mit.edu 37 12 114358414 114358414 + Splice_Site SNP A A C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:114358414A>C uc009zwi.2 - 19 2529 c.2385_splice c.e19+1 p.Q795_splice RBM19_uc001tvn.3_Splice_Site_p.Q795_splice|RBM19_uc001tvm.2_Splice_Site_p.Q795_splice NM_001146699 NP_001140171 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding skin(3)|ovary(1)|liver(1)|central_nervous_system(1) 6 Medulloblastoma(191;0.163)|all_neural(191;0.178) tcTTCACTTTACCTGGAGCTG 0.279 NA 7 707 0 0 0.00245 0 0 CABP1 9478 broad.mit.edu 37 12 121098634 121098634 + Silent SNP T T A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:121098634T>A uc001tyu.2 + 4 997 c.930T>A c.(928-930)GCT>GCA p.A310A CABP1_uc001tyv.2_Silent_p.A167A|CABP1_uc001tyw.2_Silent_p.A107A|CABP1_uc001tyx.2_Silent_p.A152A NM_001033677 NP_001028849 Q9NZU7 CABP1_HUMAN calcium binding protein 1 isoform 3 310 EF-hand 3. cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding central_nervous_system(1) 1 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TGCGAGATGCTTTCCGAGAGG 0.498 NA 68 197 0 0 0.01441 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138528 126138528 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:126138528C>T uc001uhe.1 + 9 2517 c.2509C>T c.(2509-2511)CCT>TCT p.P837S TMEM132B_uc001uhf.1_Missense_Mutation_p.P349S NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 837 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CCGTGGCACACCTGTTGGCCA 0.493 NA 4 81 0 0 0.009096 0 0 GPC6 10082 broad.mit.edu 37 13 94482698 94482698 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr13:94482698C>A uc001vlt.2 + 3 1243 c.611C>A c.(610-612)CCC>CAC p.P204H GPC6_uc010tig.1_Missense_Mutation_p.P204H|GPC6_uc001vlu.1_Missense_Mutation_p.P134H NM_005708 NP_005699 Q9Y625 GPC6_HUMAN glypican 6 precursor 204 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) GGAGACGTGCCCCGGAAACTG 0.512 NA 9 36 2.17888e-05 2.30136e-05 0.006214 1 0 ABCC4 10257 broad.mit.edu 37 13 95724037 95724037 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr13:95724037C>A uc001vmd.3 - 25 3208 c.3089G>T c.(3088-3090)CGC>CTC p.R1030L ABCC4_uc010afk.2_Missense_Mutation_p.R983L NM_005845 NP_005836 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C, member 4 1030 platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity central_nervous_system(3)|skin(1) 4 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TGGTGGTGGGCGTTTCTGATA 0.463 NA 36 109 2.40579e-17 2.85338e-17 0.00623 1 0 TMTC4 84899 broad.mit.edu 37 13 101257341 101257341 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr13:101257341G>C uc001vou.2 - 18 2293 c.2133C>G c.(2131-2133)ATC>ATG p.I711M TMTC4_uc001vot.2_Missense_Mutation_p.I730M|TMTC4_uc010tja.1_Missense_Mutation_p.I600M NM_001079669 NP_001073137 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat 711 TPR 8. integral to membrane binding ovary(2)|breast(1) 3 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GCTGCAAGGAGATTTCATAGT 0.433 NA 28 133 0 0 0.00632 0 0 MYH7 4625 broad.mit.edu 37 14 23900998 23900998 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:23900998C>T uc001wjx.2 - 7 717 c.611G>A c.(610-612)CGC>CAC p.R204H NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 204 Myosin head-like. R -> H (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CTTCTTGCTGCGGTCCCCAAT 0.572 NA 34 133 0 0 0.01441 0 0 Unknown 0 broad.mit.edu 37 14 36840725 36840725 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:36840725C>T uc001wtp.2 + 1 356 c.107C>T c.(106-108)ACG>ATG p.T36M NM_199286 NP_954980 stella NA TCCTCCGAGACGTTGATAAAG 0.488 NA 5 31 0 0 0.001168 0 0 LRFN5 145581 broad.mit.edu 37 14 42355929 42355929 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:42355929C>A uc001wvm.2 + 3 1299 c.101C>A c.(100-102)GCA>GAA p.A34E LRFN5_uc010ana.2_Missense_Mutation_p.A34E NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 34 Extracellular (Potential).|LRRNT. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CCTAATCTTGCAACCCTTTGT 0.378 NA HNSCC(30;0.082) 12 44 0.000151284 0.000158383 0.001855 1 0 SDCCAG1 9147 broad.mit.edu 37 14 50307515 50307515 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:50307515C>T uc001wxc.2 - 5 495 c.427G>A c.(427-429)GAT>AAT p.D143N SDCCAG1_uc010anj.1_Missense_Mutation_p.D143N|SDCCAG1_uc010tqi.1_Missense_Mutation_p.D143N|SDCCAG1_uc001wxe.2_Missense_Mutation_p.D101N|SDCCAG1_uc010anq.1_Intron NM_004713 NP_004704 O60524 NEMF_HUMAN serologically defined colon cancer antigen 1 143 cytoplasm|nucleus 0 all_epithelial(31;0.000822)|Breast(41;0.0117) all_lung(585;1.02e-05) OV - Ovarian serous cystadenocarcinoma(311;5.99e-34) TTAACATCATCTGCCTCATCA 0.343 NA 6 87 0 0 0.00308 0 0 PSEN1 5663 broad.mit.edu 37 14 73653563 73653563 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:73653563C>T uc001xnr.2 + 6 767 c.483C>T c.(481-483)GTC>GTT p.V161V PSEN1_uc001xnv.2_Silent_p.V157V|PSEN1_uc010ark.2_Silent_p.V157V|PSEN1_uc001xnt.1_RNA|PSEN1_uc001xnu.2_RNA|uc010ttv.1_5'Flank NM_000021 NP_000012 P49768 PSN1_HUMAN presenilin 1 isoform I-467 161 Helical; (Potential). amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding breast(1)|kidney(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075) TTTTCTAGGTCATCCATGCCT 0.269 NA 6 308 0 0 0.004482 0 0 TC2N 123036 broad.mit.edu 37 14 92249542 92249542 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:92249542C>T uc001xzu.3 - 12 1566 c.1375G>A c.(1375-1377)GAA>AAA p.E459K TC2N_uc001xzt.3_Missense_Mutation_p.E459K|TC2N_uc010auc.2_Missense_Mutation_p.E395K|TC2N_uc001xzv.3_Missense_Mutation_p.E459K NM_001128595 NP_001122067 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 459 nucleus upper_aerodigestive_tract(1) 1 COAD - Colon adenocarcinoma(157;0.218) TTACTGTCTTCACTTATCCAA 0.328 NA 5 75 0 0 0.000602 0 0 SERPINA4 5267 broad.mit.edu 37 14 95034512 95034512 + Missense_Mutation SNP T T G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:95034512T>G uc001ydk.2 + 4 1036 c.970T>G c.(970-972)TCT>GCT p.S324A SERPINA4_uc010avd.2_Missense_Mutation_p.S361A|SERPINA4_uc001ydl.2_Missense_Mutation_p.S324A NM_006215 NP_006206 P29622 KAIN_HUMAN serine (or cysteine) proteinase inhibitor, clade 324 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity ovary(3)|skin(1) 4 COAD - Colon adenocarcinoma(157;0.211) GTTCTCCATTTCTGGCTCCTA 0.443 NA 44 262 0 0 0.01441 0 0 AK7 122481 broad.mit.edu 37 14 96949491 96949491 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:96949491G>A uc001yfn.2 + 16 1953 c.1909G>A c.(1909-1911)GAA>AAA p.E637K NM_152327 NP_689540 Q96M32 KAD7_HUMAN adenylate kinase 7 637 Potential.|Glu-rich. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity ovary(1) 1 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) GGCTGCTGAGGAAGCAGAACG 0.567 NA 5 22 0 0 0.000602 0 0 WARS 7453 broad.mit.edu 37 14 100820874 100820874 + Missense_Mutation SNP T T G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:100820874T>G uc001yhf.1 - 4 536 c.452A>C c.(451-453)GAA>GCA p.E151A WARS_uc001yhe.1_5'Flank|WARS_uc001yhg.1_Missense_Mutation_p.E151A|WARS_uc001yhh.1_Missense_Mutation_p.E151A|WARS_uc001yhi.1_Missense_Mutation_p.E110A|WARS_uc001yhj.1_Missense_Mutation_p.E110A|WARS_uc001yhk.1_Missense_Mutation_p.E110A|WARS_uc001yhl.1_Missense_Mutation_p.E151A|WARS_uc010twz.1_Missense_Mutation_p.E151A NM_173701 NP_776049 P23381 SYWC_HUMAN tryptophanyl-tRNA synthetase isoform a 151 angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|protein binding|tryptophan-tRNA ligase activity breast(1) 1 all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152) L-Tryptophan(DB00150) CTTCTTATTTTCATAGGCATC 0.393 NA 20 115 0 0 0.010504 0 0 AHNAK2 113146 broad.mit.edu 37 14 105415206 105415206 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:105415206C>T uc010axc.1 - 7 6702 c.6582G>A c.(6580-6582)GGG>GGA p.G2194G AHNAK2_uc001ypx.2_Silent_p.G2094G NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2194 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCTTGAGGTCCCCCTGCATGG 0.642 NA 63 103 0 0 0.01441 0 0 AHNAK2 113146 broad.mit.edu 37 14 105417681 105417681 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:105417681C>T uc010axc.1 - 7 4227 c.4107G>A c.(4105-4107)GGG>GGA p.G1369G AHNAK2_uc001ypx.2_Silent_p.G1269G NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1369 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCTTGAGGTCCCCCTGCATGG 0.647 NA 9 5 0 0 0.00499 0 0 GPR132 29933 broad.mit.edu 37 14 105517957 105517957 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:105517957C>T uc001yqd.2 - 4 1416 c.517G>A c.(517-519)GTT>ATT p.V173I GPR132_uc001yqc.2_5'UTR|GPR132_uc001yqe.2_Missense_Mutation_p.V164I NM_013345 NP_037477 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 173 Helical; Name=4; (Potential). response to stress integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|central_nervous_system(1) 3 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) GGGTAGTGAACGATCCCGACG 0.627 NA 7 42 0 0 0.00245 0 0 C15orf2 23742 broad.mit.edu 37 15 24922224 24922224 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr15:24922224C>A uc001ywo.2 + 1 1684 c.1210C>A c.(1210-1212)CCT>ACT p.P404T NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 404 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) TTTCTCCCAACCTGTGCAGAC 0.537 NA 15 48 1.49906e-05 1.58802e-05 0.00245 1 0 TRPM1 4308 broad.mit.edu 37 15 31355390 31355390 + Missense_Mutation SNP A A T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr15:31355390A>T uc001zfm.2 - 7 958 c.830T>A c.(829-831)GTG>GAG p.V277E TRPM1_uc010azy.2_Missense_Mutation_p.V190E|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 277 Extracellular (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) ATCACAAATCACCACAGGGAT 0.617 NA 44 67 0 0 0.01441 0 0 DUOX2 50506 broad.mit.edu 37 15 45387213 45387213 + Missense_Mutation SNP T T A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr15:45387213T>A uc010bea.2 - 32 4519 c.4316A>T c.(4315-4317)AAC>ATC p.N1439I DUOX2_uc001zun.2_Missense_Mutation_p.N1439I NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN dual oxidase 2 precursor 1439 Cytoplasmic (Potential). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity ovary(2)|skin(2)|pancreas(1) 5 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CTGGTGGTCGTTCTCCTCCAC 0.572 NA 22 35 0 0 0.014323 0 0 GNB5 10681 broad.mit.edu 37 15 52418243 52418243 + Splice_Site SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr15:52418243T>C uc002abt.1 - 11 978 c.913_splice c.e11-1 p.C305_splice GNB5_uc002abr.1_Splice_Site_p.C263_splice|GNB5_uc002abs.1_Splice_Site_p.C193_splice NM_016194 NP_057278 O14775 GBB5_HUMAN guanine nucleotide-binding protein, beta-5 heterotrimeric G-protein complex GTPase activity|signal transducer activity lung(1) 1 all cancers(107;0.0163) GAGGCGACACTGGGGAGCAAA 0.478 NA 2 5 0 0 0.004672 0 0 Unknown 0 broad.mit.edu 37 15 76073178 76073178 + Nonsense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr15:76073178C>A uc010umm.1 + 6 467 c.390C>A c.(388-390)TAC>TAA p.Y130* uc002bba.1_5'Flank SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6; NA CCACCCTTTACCATACTAAAC 0.493 NA 39 107 2.45108e-15 2.8784e-15 0.00874 1 0 MORF4L1 10933 broad.mit.edu 37 15 79186452 79186452 + Missense_Mutation SNP A A G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr15:79186452A>G uc002bel.2 + 11 987 c.799A>G c.(799-801)ATG>GTG p.M267V MORF4L1_uc002bem.2_Missense_Mutation_p.M228V|MORF4L1_uc010une.1_Missense_Mutation_p.M140V NM_206839 NP_996670 Q9UBU8 MO4L1_HUMAN MORF-related gene 15 isoform 2 267 Sufficient for interaction with PHF12. double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Sin3 complex protein N-terminus binding 0 CTTCAACGTAATGTTGGGTAC 0.408 NA 53 86 0 0 0.01441 0 0 CRTC3 64784 broad.mit.edu 37 15 91172586 91172586 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr15:91172586C>T uc002bpp.2 + 11 1194 c.1088C>T c.(1087-1089)TCG>TTG p.S363L CRTC3_uc002bpo.2_Missense_Mutation_p.S363L NM_022769 NP_073606 Q6UUV7 CRTC3_HUMAN transducer of regulated CREB protein 3 isoform 363 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) salivary_gland(26)|ovary(1) 27 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) CTTCACCCTTCGCTCCGTCTG 0.552 NA T MAML2 salivary gland mucoepidermoid 95 415 0 0 0.01441 0 0 WDR90 197335 broad.mit.edu 37 16 708613 708613 + Missense_Mutation SNP A A G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr16:708613A>G uc002cii.1 + 23 2909 c.2855A>G c.(2854-2856)AAG>AGG p.K952R WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.K479R|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Missense_Mutation_p.K126R|WDR90_uc002cin.1_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 952 WD 10. ovary(1) 1 Hepatocellular(780;0.0218) CGGACCATCAAGGTGTGGGAC 0.682 NA 27 40 0 0 0.003271 0 0 GLIS2 84662 broad.mit.edu 37 16 4382451 4382451 + Nonsense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr16:4382451C>G uc002cwc.1 + 1 227 c.170C>G c.(169-171)TCA>TGA p.S57* NM_032575 NP_115964 Q9BZE0 GLIS2_HUMAN GLIS family zinc finger 2 57 Interaction with CTNND1 (By similarity). cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development cytoplasm|nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding 0 TCCCCGCCCTCAGGTACTGGC 0.672 NA 3 32 0 0 0.000602 0 0 PRKCB 5579 broad.mit.edu 37 16 23847552 23847552 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr16:23847552G>T uc002dmd.2 + 1 253 c.56G>T c.(55-57)CGC>CTC p.R19L PRKCB_uc002dme.2_Missense_Mutation_p.R19L NM_212535 NP_997700 P05771 KPCB_HUMAN protein kinase C, beta isoform 1 19 apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1) 9 Vitamin E(DB00163) AGCACCGTGCGCTTCGCCCGC 0.637 NA 15 33 3.41278e-10 3.78374e-10 0.00499 1 0 SLC6A10P 386757 broad.mit.edu 37 16 32890801 32890801 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr16:32890801C>A uc002edh.1 - 4 343 c.167G>T c.(166-168)TGC>TTC p.C56F SLC6A10P_uc002edi.1_RNA RecName: Full=Transporter; 0 CATCCAGGGGCAAGGTCGGTA 0.468 NA 5 47 5.03518e-11 5.68848e-11 0.007413 1 0 PLEKHG4 25894 broad.mit.edu 37 16 67314355 67314355 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr16:67314355G>A uc002eso.3 + 1 2943 c.408G>A c.(406-408)GCG>GCA p.A136A PLEKHG4_uc002esp.3_5'UTR|PLEKHG4_uc002esq.3_Silent_p.A136A|PLEKHG4_uc002esr.1_Intron|PLEKHG4_uc010cef.2_Silent_p.A136A|PLEKHG4_uc002ess.3_Silent_p.A136A|PLEKHG4_uc010ceg.2_Intron NM_015432 NP_056247 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G 136 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) CAAGCAGGGCGATGCCATCTG 0.592 NA 9 171 0 0 0.006214 0 0 PMFBP1 83449 broad.mit.edu 37 16 72158704 72158704 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr16:72158704C>A uc002fcc.3 - 17 2738 c.2566G>T c.(2566-2568)GCC>TCC p.A856S PMFBP1_uc002fcd.2_Missense_Mutation_p.A851S|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.A706S|PMFBP1_uc010cgo.1_Missense_Mutation_p.A147S NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 856 Potential. ovary(2) 2 Ovarian(137;0.179) TTTAAGGCGGCCATCTCCTCC 0.572 NA OREG0023927 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 72 156 5.32961e-40 6.69954e-40 0.01441 1 0 WWOX 51741 broad.mit.edu 37 16 78458910 78458910 + Nonsense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr16:78458910C>G uc002ffk.2 + 7 874 c.749C>G c.(748-750)TCA>TGA p.S250* WWOX_uc010vnk.1_Nonsense_Mutation_p.S137*|WWOX_uc002ffl.2_Intron|WWOX_uc010che.2_Intron NM_016373 NP_057457 Q9NZC7 WWOX_HUMAN WW domain-containing oxidoreductase isoform 1 250 Interaction with MAPT (By similarity).|Mediates targeting to the mitochondria (By similarity). apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway Golgi apparatus|mitochondrion|nucleus coenzyme binding|oxidoreductase activity|protein dimerization activity 0 all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167) UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232) TTGTGCCGCTCAGCTCCTGCC 0.507 NA 18 221 0 0 0.008871 0 0 OR1A1 8383 broad.mit.edu 37 17 3119530 3119530 + Missense_Mutation SNP T T G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:3119530T>G uc010vrc.1 + 1 616 c.616T>G c.(616-618)TTC>GTC p.F206V NM_014565 NP_055380 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, 206 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GGTTGGCATTTTCTCTGTGCC 0.478 NA 57 170 0 0 0.01441 0 0 VMO1 284013 broad.mit.edu 37 17 4689248 4689248 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:4689248C>G uc002fyx.2 - 2 377 c.295G>C c.(295-297)GAG>CAG p.E99Q VMO1_uc010vsh.1_Intron|VMO1_uc010vsi.1_Missense_Mutation_p.E99Q|VMO1_uc002fyy.2_Intron NM_182566 NP_872372 Q7Z5L0 VMO1_HUMAN vitelline membrane outer layer 1 isoform 1 99 vitelline membrane formation extracellular region ovary(1) 1 GACTGGGACTCTACCACGTGC 0.612 NA 78 826 0 0 0.01441 0 0 DNAH2 146754 broad.mit.edu 37 17 7636522 7636522 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:7636522C>T uc002giu.1 + 4 531 c.517C>T c.(517-519)CGG>TGG p.R173W DNAH2_uc002git.2_Missense_Mutation_p.R173W|DNAH2_uc010vuk.1_Missense_Mutation_p.R173W NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 173 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) GGCCCTGCTTCGGCTGCTCGG 0.547 NA 28 106 0 0 0.012213 0 0 DNAH2 146754 broad.mit.edu 37 17 7640477 7640477 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:7640477C>T uc002giu.1 + 7 1085 c.1071C>T c.(1069-1071)ATC>ATT p.I357I DNAH2_uc002git.2_Silent_p.I357I|DNAH2_uc010vuk.1_Silent_p.I357I NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 357 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCAAGGACATCTCTAGCAAGC 0.517 NA 16 92 0 0 0.003163 0 0 DNAH2 146754 broad.mit.edu 37 17 7644211 7644211 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:7644211G>A uc002giu.1 + 10 1604 c.1590G>A c.(1588-1590)CGG>CGA p.R530R DNAH2_uc002git.2_Silent_p.R612R|DNAH2_uc010vuk.1_Silent_p.R530R NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 530 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) ACCGTGAACGGAACAAGAAAT 0.567 NA 17 107 0 0 0.010504 0 0 DNAH2 146754 broad.mit.edu 37 17 7646444 7646444 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:7646444G>C uc002giu.1 + 11 1902 c.1888G>C c.(1888-1890)GAT>CAT p.D630H DNAH2_uc002git.2_Missense_Mutation_p.D712H|DNAH2_uc010vuk.1_Missense_Mutation_p.D630H NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 630 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) GGGCATGCTGGATGTCAACTT 0.512 NA 8 55 0 0 0.004482 0 0 DHRS7C 201140 broad.mit.edu 37 17 9684874 9684874 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:9684874C>T uc010vvb.1 - 2 192 c.192G>A c.(190-192)CTG>CTA p.L64L DHRS7C_uc010cof.2_Silent_p.L64L NM_001105571 NP_001099041 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 64 NAD or NADP (By similarity). extracellular region binding|oxidoreductase activity 0 CACACAGCACCAGCCTTGCCC 0.567 NA 9 25 0 0 0.010729 0 0 MYH8 4626 broad.mit.edu 37 17 10298621 10298621 + Silent SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:10298621C>A uc002gmm.2 - 34 4886 c.4791G>T c.(4789-4791)GTG>GTT p.V1597V uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1597 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 GCATTGTCTCCACGACTCTAG 0.423 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 19 107 3.5997e-14 4.18597e-14 0.014323 1 0 DNAH9 1770 broad.mit.edu 37 17 11597208 11597208 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:11597208C>T uc002gne.2 + 21 4706 c.4638C>T c.(4636-4638)ATC>ATT p.I1546I DNAH9_uc010coo.2_Silent_p.I840I NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 1546 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTGAAGGCATCGACATTGACT 0.428 NA 23 94 0 0 0.004656 0 0 ANKRD13B 124930 broad.mit.edu 37 17 27936421 27936421 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:27936421G>A uc002hei.2 + 7 917 c.804G>A c.(802-804)GTG>GTA p.V268V ANKRD13B_uc002heh.2_Silent_p.V136V|ANKRD13B_uc002hej.2_RNA NM_152345 NP_689558 Q86YJ7 AN13B_HUMAN ankyrin repeat domain 13B 268 0 CGGAGATGGTGAATGGGTATG 0.607 NA 4 58 0 0 0.000602 0 0 ADAP2 55803 broad.mit.edu 37 17 29283319 29283319 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:29283319G>A uc002hfx.2 + 10 1222 c.943G>A c.(943-945)GAA>AAA p.E315K ADAP2_uc010csk.2_Missense_Mutation_p.E321K|ADAP2_uc002hfy.2_Missense_Mutation_p.E314K|ADAP2_uc010csl.2_RNA NM_018404 NP_060874 Q9NPF8 ADAP2_HUMAN centaurin-alpha 2 protein 315 PH 2. heart development|regulation of ARF GTPase activity mitochondrial envelope|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding p.?(1) ovary(1) 1 TGAAGCCTACGAAGACCTGCC 0.557 NA 4 100 0 0 0.001168 0 0 NLE1 54475 broad.mit.edu 37 17 33462471 33462471 + Splice_Site SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:33462471C>G uc002hiy.1 - 10 1040 c.1012_splice c.e10-1 p.G338_splice NLE1_uc010ctn.1_Splice_Site_p.G46_splice|NLE1_uc002hiz.1_Splice_Site_p.G46_splice NM_018096 NP_060566 Q9NVX2 NLE1_HUMAN Notchless gene homolog isoform a nucleolus breast(3)|ovary(1) 4 Ovarian(249;0.17) GACCCTGGCCCTAGGGGAGGC 0.567 NA 13 27 0 0 0.00333 0 0 PLXDC1 57125 broad.mit.edu 37 17 37239790 37239790 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:37239790C>G uc002hrg.2 - 9 1123 c.911G>C c.(910-912)TGC>TCC p.C304S uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Missense_Mutation_p.C12S|PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_Intron NM_020405 NP_065138 Q8IUK5 PXDC1_HUMAN plexin domain containing 1 precursor 304 Extracellular (Potential). angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction ovary(1)|kidney(1)|skin(1) 3 ATGCTGCAGGCAGGCTGCAAG 0.537 NA 8 13 0 0 0.004482 0 0 KRT26 353288 broad.mit.edu 37 17 38926018 38926018 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:38926018G>A uc002hvf.2 - 5 1003 c.957C>T c.(955-957)TCC>TCT p.S319S NM_181539 NP_853517 Q7Z3Y9 K1C26_HUMAN keratin 26 319 Rod.|Coil 2. intermediate filament structural molecule activity 0 Breast(137;0.00526) CAGCCATGAGGGACTGAAGTT 0.398 NA 7 124 0 0 0.004482 0 0 ACE 1636 broad.mit.edu 37 17 61559074 61559074 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:61559074G>C uc002jau.1 + 7 1115 c.1093G>C c.(1093-1095)GAC>CAC p.D365H ACE_uc010wpi.1_Missense_Mutation_p.D365H|ACE_uc010ddu.1_Missense_Mutation_p.D182H NM_000789 NP_000780 P12821 ACE_HUMAN angiotensin I converting enzyme 1 isoform 1 365 Extracellular (Potential).|Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CTCGGCTTGGGACTTCTACAA 0.647 NA 6 156 0 0 0.004482 0 0 ABCA8 10351 broad.mit.edu 37 17 66883575 66883575 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:66883575C>T uc002jhp.2 - 23 3276 c.3097G>A c.(3097-3099)GAT>AAT p.D1033N ABCA8_uc002jhq.2_Missense_Mutation_p.D1073N|ABCA8_uc010wqq.1_Missense_Mutation_p.D1073N|ABCA8_uc010wqr.1_Missense_Mutation_p.D1012N NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 1033 Helical; (Potential). integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) AGGGAAACATCCACCAGCGCC 0.413 NA 11 231 0 0 0.008291 0 0 ST6GALNAC2 10610 broad.mit.edu 37 17 74570505 74570505 + Silent SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:74570505G>C uc002jsg.3 - 3 558 c.303C>G c.(301-303)CTC>CTG p.L101L NM_006456 NP_006447 Q9UJ37 SIA7B_HUMAN sialyltransferase 7B 101 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity 0 GGCGGTCCCAGAGCGCTGGGG 0.637 NA 16 61 0 0 0.00499 0 0 ENGASE 64772 broad.mit.edu 37 17 77073539 77073539 + Silent SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:77073539C>G uc002jwv.2 + 2 182 c.174C>G c.(172-174)GTC>GTG p.V58V ENGASE_uc002jwu.1_Silent_p.V58V|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.2_5'Flank NM_001042573 NP_001036038 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 58 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity skin(1) 1 AAGAGACAGTCTTTCGAGAGG 0.463 NA 18 78 0 0 0.007413 0 0 CEP192 55125 broad.mit.edu 37 18 13049425 13049425 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr18:13049425G>A uc010xac.1 + 16 2715 c.2635G>A c.(2635-2637)GTG>ATG p.V879M CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.V404M|CEP192_uc002kru.2_RNA|CEP192_uc002krs.1_Missense_Mutation_p.V620M NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 879 ovary(4)|pancreas(1) 5 AGTAGTTGATGTGAAGACATG 0.348 NA 29 79 0 0 0.009535 0 0 KIAA1012 22878 broad.mit.edu 37 18 29437671 29437671 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr18:29437671C>G uc002kxc.3 - 20 3384 c.3020G>C c.(3019-3021)GGC>GCC p.G1007A KIAA1012_uc002kxb.3_Missense_Mutation_p.G953A|KIAA1012_uc002kxd.3_RNA NM_014939 NP_055754 Q9Y2L5 TPPC8_HUMAN hypothetical protein LOC22878 1007 ER to Golgi vesicle-mediated transport cis-Golgi network 0 ACTTCCTGTGCCAATGCCAAA 0.493 NA 29 73 0 0 0.013726 0 0 ST8SIA5 29906 broad.mit.edu 37 18 44268875 44268875 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr18:44268875G>C uc002lcj.1 - 4 887 c.319C>G c.(319-321)CTG>GTG p.L107V ST8SIA5_uc002lci.1_Intron|ST8SIA5_uc010xcy.1_Missense_Mutation_p.L143V|ST8SIA5_uc010xcz.1_Missense_Mutation_p.L76V NM_013305 NP_037437 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide 107 Lumenal (Potential). glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 3 CACCTGGACAGAGTAGACCTG 0.572 NA 19 40 0 0 0.012319 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555306 44555306 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr18:44555306G>T uc010xdb.1 - 1 1144 c.908C>A c.(907-909)CCA>CAA p.P303Q KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_145653 NP_663628 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 303 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding 0 CTGGAGCGCTGGCGCGGAGAG 0.637 NA 22 896 4.35082e-09 4.7792e-09 0.010504 1 0 RTTN 25914 broad.mit.edu 37 18 67697257 67697257 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr18:67697257C>T uc002lkp.2 - 42 5804 c.5736G>A c.(5734-5736)TTG>TTA p.L1912L RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.L1000L|RTTN_uc010dqp.2_Silent_p.L164L NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 1912 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) CCTTTTTTTTCAATGCTGCTT 0.398 NA 10 120 0 0 0.006214 0 0 CNDP1 84735 broad.mit.edu 37 18 72238504 72238504 + Silent SNP C C T rs148458615 byFrequency TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr18:72238504C>T uc002llq.2 + 7 1051 c.840C>T c.(838-840)CTC>CTT p.L280L CNDP1_uc002lls.2_Silent_p.L83L NM_032649 NP_116038 Q96KN2 CNDP1_HUMAN carnosinase 1 precursor 280 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity 0 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) TTGCTCTTCTCGGTAATGCCT 0.423 Melanoma(32;1029 1042 25286 38395 44237) NA 11 111 0 0 0.013537 0 0 ZNF559 84527 broad.mit.edu 37 19 9452759 9452759 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr19:9452759G>C uc002mlg.2 + 7 1279 c.632G>C c.(631-633)AGA>ACA p.R211T ZNF559_uc002mlf.2_5'UTR|ZNF559_uc010dwl.1_5'UTR|ZNF559_uc010xkn.1_Missense_Mutation_p.R203T|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Missense_Mutation_p.R275T|ZNF559_uc010dwk.1_5'UTR|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron NM_032497 NP_115886 Q9BR84 ZN559_HUMAN zinc finger protein 559 211 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GGTGGAGAGAGACCATATACT 0.378 NA 39 42 0 0 0.010771 0 0 KEAP1 9817 broad.mit.edu 37 19 10602840 10602840 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr19:10602840G>C uc002moq.1 - 3 894 c.738C>G c.(736-738)TTC>TTG p.F246L KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.F246L NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 246 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) TGCAGGCGTGGAAGACCTCGG 0.622 NA 26 42 0 0 0.005443 0 0 CARM1 10498 broad.mit.edu 37 19 11022908 11022908 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr19:11022908G>C uc002mpz.2 + 5 733 c.607G>C c.(607-609)GCC>CCC p.A203P CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_5'UTR NM_199141 NP_954592 Q86X55 CARM1_HUMAN coactivator-associated arginine 203 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding 0 GTTTTTTGCCGCCCAAGCTGG 0.627 NA 169 232 0 0 0.01441 0 0 CC2D1A 54862 broad.mit.edu 37 19 14024056 14024056 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr19:14024056G>A uc002mxo.2 + 5 753 c.454G>A c.(454-456)GAA>AAA p.E152K CC2D1A_uc002mxn.2_Missense_Mutation_p.E51K|CC2D1A_uc002mxp.2_Missense_Mutation_p.E152K|CC2D1A_uc010dzh.2_5'UTR NM_017721 NP_060191 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 152 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity 0 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) GACAGCAATTGAAAGCGCCAG 0.637 NA 3 26 0 0 0.000602 0 0 GPI 2821 broad.mit.edu 37 19 34868423 34868423 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr19:34868423G>T uc002nvg.1 + 5 521 c.418G>T c.(418-420)GAC>TAC p.D140Y GPI_uc002nvf.2_Missense_Mutation_p.D179Y|GPI_uc010xrv.1_Intron|GPI_uc010xrw.1_Intron|GPI_uc010edl.1_Missense_Mutation_p.D140Y NM_000175 NP_000166 P06744 G6PI_HUMAN glucose phosphate isomerase 140 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity ovary(1)|kidney(1) 2 Esophageal squamous(110;0.162) CCGGAGCGGTGACTGGAAGGG 0.582 NA 33 110 1.15183e-24 1.40823e-24 0.009718 1 0 GPI 2821 broad.mit.edu 37 19 34868425 34868425 + Silent SNP C C T rs11548997 TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr19:34868425C>T uc002nvg.1 + 5 523 c.420C>T c.(418-420)GAC>GAT p.D140D GPI_uc002nvf.2_Silent_p.D179D|GPI_uc010xrv.1_Intron|GPI_uc010xrw.1_Intron|GPI_uc010edl.1_Silent_p.D140D NM_000175 NP_000166 P06744 G6PI_HUMAN glucose phosphate isomerase 140 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity ovary(1)|kidney(1) 2 Esophageal squamous(110;0.162) GGAGCGGTGACTGGAAGGGGT 0.587 NA 32 114 0 0 0.007835 0 0 KCNK6 9424 broad.mit.edu 37 19 38817502 38817502 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr19:38817502G>A uc002oic.2 + 2 702 c.592G>A c.(592-594)GCC>ACC p.A198T KCNK6_uc002oid.2_Missense_Mutation_p.A64T NM_004823 NP_004814 Q9Y257 KCNK6_HUMAN potassium channel, subfamily K, member 6 198 voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(1) 1 all_cancers(60;5.83e-07) Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613) Ibutilide(DB00308)|Quinidine(DB00908) CCTCGAGGAGGCCTGGAGCTT 0.657 NA 71 357 0 0 0.01441 0 0 RYR1 6261 broad.mit.edu 37 19 39023335 39023335 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr19:39023335G>A uc002oit.2 + 78 11348 c.11218G>A c.(11218-11220)GAG>AAG p.E3740K RYR1_uc002oiu.2_Missense_Mutation_p.E3735K|RYR1_uc002oiv.1_Missense_Mutation_p.E655K|RYR1_uc010xuf.1_Missense_Mutation_p.E660K NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 3740 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGAGGGAGGGGAGAACGGTGA 0.602 NA 42 82 0 0 0.01441 0 0 FAM83E 54854 broad.mit.edu 37 19 49116501 49116501 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr19:49116501C>T uc002pjn.2 - 1 194 c.129G>A c.(127-129)GCG>GCA p.A43A NM_017708 NP_060178 Q2M2I3 FA83E_HUMAN hypothetical protein LOC54854 43 ovary(1) 1 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) GGAACGCCTCCGCGCCCTTGC 0.667 NA 5 35 0 0 0.00308 0 0 NTF4 4909 broad.mit.edu 37 19 49564715 49564715 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr19:49564715C>G uc002pmf.3 - 2 681 c.540G>C c.(538-540)TTG>TTC p.L180F CGB7_uc010yah.1_Intron NM_006179 NP_006170 P34130 NTF4_HUMAN neurotrophin 5 preproprotein 180 adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification endoplasmic reticulum lumen|extracellular region growth factor activity 0 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) CATCAGCGGTCAATGCCCGCA 0.657 NA 5 91 0 0 0.000602 0 0 LENG1 79165 broad.mit.edu 37 19 54663367 54663367 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr19:54663367C>T uc002qdm.2 - 1 80 c.67G>A c.(67-69)GAC>AAC p.D23N NM_024316 NP_077292 Q96BZ8 LENG1_HUMAN leukocyte receptor cluster (LRC) member 1 23 Potential. ovary(1) 1 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TGGGCCTCGTCACGCCGCACG 0.677 NA 6 10 0 0 0.001984 0 0 ZNF544 27300 broad.mit.edu 37 19 58773673 58773673 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr19:58773673G>C uc010euo.2 + 7 2175 c.1701G>C c.(1699-1701)CAG>CAC p.Q567H ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.Q539H|ZNF544_uc010yhy.1_Missense_Mutation_p.Q539H|ZNF544_uc002qrt.3_Missense_Mutation_p.Q425H|ZNF544_uc002qru.3_Missense_Mutation_p.Q425H|uc002qrx.1_Intron NM_014480 NP_055295 Q6NX49 ZN544_HUMAN zinc finger protein 544 567 C2H2-type 8. 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) TCATACATCAGAGAATTCATA 0.418 NA 6 125 0 0 0.001984 0 0 ZNF324 25799 broad.mit.edu 37 19 58983439 58983439 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr19:58983439C>T uc002qsw.1 + 4 1674 c.1580C>T c.(1579-1581)TCA>TTA p.S527L ZNF324_uc002qsx.1_Missense_Mutation_p.S304L NM_014347 NP_055162 O75467 Z324A_HUMAN zinc finger protein 324 527 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) GCCGGGGCATCATCAGAAGGT 0.692 NA 5 41 0 0 0.000602 0 0 ACP1 52 broad.mit.edu 37 2 277226 277226 + Splice_Site SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:277226G>T uc002qwg.2 + 6 496 c.400_splice c.e6-1 p.G134_splice ACP1_uc002qwh.2_Splice_Site|ACP1_uc002qwf.2_Splice_Site_p.G134_splice NM_007099 NP_009030 P24666 PPAC_HUMAN acid phosphatase 1, soluble isoform b cytoplasm|internal side of plasma membrane|nucleus|soluble fraction acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity skin(1) 1 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236) all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127) TGTCCATTTAGGGGAATGACT 0.458 NA 51 156 1.04682e-39 1.31128e-39 0.01441 1 0 PXDN 7837 broad.mit.edu 37 2 1652006 1652006 + Silent SNP T T A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:1652006T>A uc002qxa.2 - 17 3610 c.3546A>T c.(3544-3546)GCA>GCT p.A1182A NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1182 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CGAACGTGTGTGCCGCCGATA 0.572 NA 40 142 0 0 0.01441 0 0 C2orf44 80304 broad.mit.edu 37 2 24260579 24260579 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:24260579G>C uc002rep.2 - 2 1917 c.1786C>G c.(1786-1788)CAA>GAA p.Q596E C2orf44_uc010eya.2_Missense_Mutation_p.Q596E NM_025203 NP_079479 Q9H6R7 CB044_HUMAN hypothetical protein LOC80304 isoform 1 596 protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGAAGATCTTGAGAGAGTGGA 0.403 NA 13 215 0 0 0.003163 0 0 C2orf39 92749 broad.mit.edu 37 2 26624954 26624954 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:26624954C>G uc002rhg.2 + 1 171 c.97C>G c.(97-99)CAG>GAG p.Q33E C2orf39_uc010eym.1_RNA NM_145038 NP_659475 Q96MC2 CC164_HUMAN hypothetical protein LOC92749 33 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGACAACTCTCAGGAGCGCAT 0.607 NA 3 27 0 0 0.009096 0 0 EHD3 30845 broad.mit.edu 37 2 31489172 31489172 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:31489172C>T uc002rnu.2 + 6 1818 c.1210C>T c.(1210-1212)CGG>TGG p.R404W EHD3_uc010ymt.1_3'UTR NM_014600 NP_055415 Q9NZN3 EHD3_HUMAN EH-domain containing 3 404 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding skin(2) 2 Acute lymphoblastic leukemia(172;0.155) GGAGTCACAGCGGCCCATCCA 0.627 NA 13 58 0 0 0.001855 0 0 ASPRV1 151516 broad.mit.edu 37 2 70188284 70188284 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:70188284G>A uc002sfz.3 - 1 1114 c.537C>T c.(535-537)CCC>CCT p.P179P NM_152792 NP_690005 Q53RT3 APRV1_HUMAN aspartic peptidase, retroviral-like 1 precursor 179 Extracellular (Potential). protein maturation by peptide bond cleavage|skin development aspartic-type endopeptidase activity ovary(1) 1 GCAGGTGGCTGGGGGCAGCCC 0.587 NA 3 90 0 0 0.001168 0 0 FAM136A 84908 broad.mit.edu 37 2 70528037 70528037 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:70528037C>G uc002sgq.3 - 2 240 c.163G>C c.(163-165)GAG>CAG p.E55Q FAM136A_uc010fdp.2_RNA NM_032822 NP_116211 Q96C01 F136A_HUMAN hypothetical protein LOC84908 55 mitochondrion protein binding 0 TGGCAGCGCTCGATGCACTGG 0.572 NA 31 177 0 0 0.009535 0 0 CTNNA2 1496 broad.mit.edu 37 2 80101241 80101241 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:80101241G>A uc010ysh.1 + 5 630 c.625G>A c.(625-627)GCC>ACC p.A209T CTNNA2_uc010yse.1_Missense_Mutation_p.A209T|CTNNA2_uc010ysf.1_Missense_Mutation_p.A209T|CTNNA2_uc010ysg.1_Missense_Mutation_p.A209T NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 209 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 GATGGCAGCCGCCCGAGGGGC 0.512 NA 14 48 0 0 0.00245 0 0 SNRNP200 23020 broad.mit.edu 37 2 96949642 96949642 + Missense_Mutation SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:96949642T>C uc002svu.2 - 32 4579 c.4493A>G c.(4492-4494)AAG>AGG p.K1498R SNRNP200_uc002svt.2_Missense_Mutation_p.K108R|SNRNP200_uc010yuj.1_RNA|SNRNP200_uc002svv.1_Missense_Mutation_p.K25R NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 1498 Helicase ATP-binding 2. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 GGCCACATCCTTGGCATTGGA 0.587 NA 7 12 0 0 0.00308 0 0 GCC2 9648 broad.mit.edu 37 2 109116083 109116083 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:109116083G>C uc002tec.2 + 22 5011 c.4857G>C c.(4855-4857)TTG>TTC p.L1619F GCC2_uc002ted.2_Missense_Mutation_p.L1518F NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 1619 Mediates interaction with RAB9A.|GRIP. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 TGGAATACTTGAAGAACGTCT 0.393 NA 4 305 0 0 0.000602 0 0 SLC20A1 6574 broad.mit.edu 37 2 113414815 113414815 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:113414815G>A uc002tib.2 + 6 1221 c.775G>A c.(775-777)GAA>AAA p.E259K SLC20A1_uc002tic.1_Missense_Mutation_p.E71K NM_005415 NP_005406 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate 259 Cytoplasmic (Potential). phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity p.E259V(1) ovary(2) 2 GAGAAAAATTGAACGTAAGTA 0.378 NA 5 78 0 0 0.001984 0 0 ERCC3 2071 broad.mit.edu 37 2 128018852 128018852 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:128018852G>A uc002toh.1 - 13 2111 c.2016C>T c.(2014-2016)TAC>TAT p.Y672Y ERCC3_uc002toe.1_Silent_p.Y427Y|ERCC3_uc002tof.1_Silent_p.Y608Y|ERCC3_uc002tog.1_Silent_p.Y608Y NM_000122 NP_000113 P19447 ERCC3_HUMAN excision repair cross-complementing rodent 672 Helicase C-terminal. cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding ovary(2)|lung(2)|breast(2)|kidney(1) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) GCTTGGTTGAGTAAGCCATTT 0.438 NA Mis|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 4 100 0 0 0.009096 0 0 TUBA3E 112714 broad.mit.edu 37 2 130951907 130951907 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:130951907C>A uc002tqv.2 - 4 609 c.508G>T c.(508-510)GCC>TCC p.A170S NM_207312 NP_997195 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 170 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 Colorectal(110;0.1) GGGTAAATGGCAAACTCTAGC 0.567 NA 24 125 7.26314e-15 8.50145e-15 0.007291 1 0 TUBA3D 113457 broad.mit.edu 37 2 132237774 132237774 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:132237774G>T uc002tsu.3 + 4 615 c.508G>T c.(508-510)GCC>TCC p.A170S NM_080386 NP_525125 Q13748 TBA3C_HUMAN tubulin, alpha 3d 170 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(221;0.13) GCTAGAGTTTGCCATTTACCC 0.577 Ovarian(137;2059 2432 35543 39401) NA 13 336 2.89027e-11 3.27564e-11 0.014323 1 0 LRP1B 53353 broad.mit.edu 37 2 140992396 140992396 + Missense_Mutation SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:140992396T>C uc002tvj.1 - 90 14590 c.13618A>G c.(13618-13620)ATC>GTC p.I4540V NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4540 Cytoplasmic (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) tttaggtagatgggcggcgct 0.05 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 11 22 0 0 0.003163 0 0 SLC4A10 57282 broad.mit.edu 37 2 162735721 162735721 + Missense_Mutation SNP T T A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:162735721T>A uc002ubx.3 + 9 1213 c.1029T>A c.(1027-1029)GAT>GAA p.D343E SLC4A10_uc010fpa.1_Missense_Mutation_p.D355E|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.D313E|SLC4A10_uc010zcs.1_Missense_Mutation_p.D324E NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 343 Cytoplasmic (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 AGTTCTTGGATCGAACAGTAG 0.443 NA 13 66 0 0 0.004007 0 0 GPR155 151556 broad.mit.edu 37 2 175301048 175301048 + Silent SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:175301048C>G uc002uit.2 - 17 2800 c.2409G>C c.(2407-2409)GTG>GTC p.V803V GPR155_uc002uiu.2_Silent_p.V803V|GPR155_uc002uiv.2_Silent_p.V803V|GPR155_uc010fqs.2_Silent_p.V775V NM_001033045 NP_001028217 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 isoform 9 803 DEP. intracellular signal transduction|transmembrane transport integral to membrane ovary(1) 1 CTCCGTATATCACAGCTTCAC 0.483 NA 8 217 0 0 0.004482 0 0 TTN 7273 broad.mit.edu 37 2 179425729 179425729 + Missense_Mutation SNP A A G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:179425729A>G uc010zfg.1 - 275 77650 c.77426T>C c.(77425-77427)ATA>ACA p.I25809T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I19504T|TTN_uc010zfi.1_Missense_Mutation_p.I19437T|TTN_uc010zfj.1_Missense_Mutation_p.I19312T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 26736 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTCTGCATTTATCTTAAGGAC 0.428 NA 72 115 0 0 0.01441 0 0 SDPR 8436 broad.mit.edu 37 2 192700900 192700900 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:192700900C>T uc002utb.2 - 2 1357 c.1027G>A c.(1027-1029)GCC>ACC p.A343T NM_004657 NP_004648 O95810 SDPR_HUMAN serum deprivation response protein 343 caveola|cytosol phosphatidylserine binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) AGAGCGCTGGCGAGGGACGCT 0.552 NA 59 189 0 0 0.01441 0 0 CLK1 1195 broad.mit.edu 37 2 201718134 201718134 + Silent SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:201718134G>C uc002uwe.2 - 13 1531 c.1350C>G c.(1348-1350)CTC>CTG p.L450L CLK1_uc002uwd.2_Silent_p.L273L|CLK1_uc010zhi.1_Silent_p.L492L|CLK1_uc002uwf.2_Silent_p.L224L|CLK1_uc002uwg.2_Silent_p.L299L|CLK1_uc010fsv.2_RNA NM_004071 NP_004062 P49759 CLK1_HUMAN CDC-like kinase 1 isoform 1 450 Protein kinase. cell proliferation nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity pancreas(2) 2 TGAGGTCAAAGAGACGCTCAT 0.363 NA 8 93 0 0 0.00308 0 0 CDK15 65061 broad.mit.edu 37 2 202737000 202737000 + Splice_Site SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:202737000G>A uc002uyt.2 + 11 1059 c.1010_splice c.e11-1 p.E337_splice CDK15_uc010ftm.2_Splice_Site_p.E202_splice|CDK15_uc002uys.2_Splice_Site_p.E286_splice|CDK15_uc010ftn.1_Splice_Site_p.E286_splice|CDK15_uc002uyu.1_Intron NM_139158 NP_631897 Q96Q40 CDK15_HUMAN PFTAIRE protein kinase 2 ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding breast(2)|ovary(1)|lung(1)|kidney(1) 5 Adenosine triphosphate(DB00171) ATGCTTCCCAGAATGGTTCCC 0.388 NA 4 130 0 0 0.009096 0 0 MAP2 4133 broad.mit.edu 37 2 210557842 210557842 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:210557842C>T uc002vde.1 + 7 1196 c.948C>T c.(946-948)CCC>CCT p.P316P MAP2_uc002vdc.1_Silent_p.P316P|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.P312P NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 316 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TGCCAAGTCCCTTTCAAGGGG 0.448 Pancreas(27;423 979 28787 29963) NA 43 83 0 0 0.011902 0 0 MAP2 4133 broad.mit.edu 37 2 210570428 210570428 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:210570428C>T uc002vde.1 + 11 4957 c.4709C>T c.(4708-4710)TCT>TTT p.S1570F MAP2_uc002vdd.1_Missense_Mutation_p.S271F|MAP2_uc002vdf.1_Missense_Mutation_p.S214F|MAP2_uc002vdg.1_Missense_Mutation_p.S214F|MAP2_uc002vdh.1_Missense_Mutation_p.S271F|MAP2_uc002vdi.1_Missense_Mutation_p.S1566F NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 1570 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AGTTCTATCTCTTCTTCAGCA 0.418 Pancreas(27;423 979 28787 29963) NA 20 80 0 0 0.005443 0 0 CCDC108 255101 broad.mit.edu 37 2 219896286 219896286 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:219896286C>T uc002vjl.1 - 7 824 c.740G>A c.(739-741)CGC>CAC p.R247H CCDC108_uc010fwa.1_5'Flank|CCDC108_uc010zkp.1_Missense_Mutation_p.R236H|CCDC108_uc010zkq.1_Missense_Mutation_p.R182H NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 247 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGATGGTGGGCGGCAGATCAG 0.607 NA 50 198 0 0 0.01441 0 0 COL6A3 1293 broad.mit.edu 37 2 238249550 238249550 + Missense_Mutation SNP G G A rs142851023 byFrequency TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:238249550G>A uc002vwl.2 - 38 8294 c.8009C>T c.(8008-8010)GCG>GTG p.A2670V COL6A3_uc002vwo.2_Missense_Mutation_p.A2464V|COL6A3_uc010znj.1_Missense_Mutation_p.A2063V|COL6A3_uc002vwj.2_Missense_Mutation_p.A51V NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 2670 VWFA 12.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTCAGAGGGCGCGTGCTGCAC 0.567 NA 34 61 0 0 0.012213 0 0 C2orf54 79919 broad.mit.edu 37 2 241826542 241826542 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:241826542G>A uc002wae.3 - 5 1448 c.1289C>T c.(1288-1290)TCT>TTT p.S430F C2orf54_uc002wac.2_Missense_Mutation_p.S262F|C2orf54_uc002wad.2_Missense_Mutation_p.S281F NM_001085437 NP_001078906 Q08AI8 CB054_HUMAN hypothetical protein LOC79919 isoform 1 430 0 all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) CTGCATGGCAGAGATCCGGTC 0.582 NA 31 99 0 0 0.010818 0 0 HSPA12B 116835 broad.mit.edu 37 20 3726567 3726567 + Silent SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr20:3726567G>T uc002wjd.2 + 7 667 c.564G>T c.(562-564)CTG>CTT p.L188L HSPA12B_uc010zqi.1_Silent_p.L187L|HSPA12B_uc002wje.2_Silent_p.L101L|HSPA12B_uc010zqj.1_Silent_p.L22L NM_052970 NP_443202 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 188 ATP binding 0 ACCAGGAGCTGAGGGAGCAGA 0.597 NA 9 148 5.16669e-11 5.81863e-11 0.010729 1 0 MAVS 57506 broad.mit.edu 37 20 3845224 3845224 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr20:3845224C>T uc002wjw.3 + 6 1116 c.947C>T c.(946-948)CCA>CTA p.P316L MAVS_uc002wjx.3_Missense_Mutation_p.P175L|MAVS_uc002wjy.3_Missense_Mutation_p.P14L NM_020746 NP_065797 Q7Z434 MAVS_HUMAN virus-induced signaling adapter 316 Cytoplasmic (Probable). activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity 0 CCTGCCAACCCAGCATCTGTC 0.572 NA 16 111 0 0 0.008871 0 0 SPTLC3 55304 broad.mit.edu 37 20 13053003 13053003 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr20:13053003G>T uc002wod.1 + 3 692 c.403G>T c.(403-405)GGG>TGG p.G135W NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base 135 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups 0 Pyridoxal Phosphate(DB00114) CAGTGCCCCAGGGCCTCTGTT 0.438 NA 71 394 5.71386e-39 7.13234e-39 0.01441 1 0 PXMP4 11264 broad.mit.edu 37 20 32302524 32302525 + Missense_Mutation DNP CC CC AA rs142263400 TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr20:32302524_32302525CC>AA uc002wzv.2 - 2 254_255 c.131_132GG>TT c.(130-132)CGG>CTT p.R44L PXMP4_uc002wzw.2_Missense_Mutation_p.R44L|PXMP4_uc010zuh.1_Missense_Mutation_p.R44L NM_007238 NP_009169 Q9Y6I8 PXMP4_HUMAN peroxisomal membrane protein 4 isoform a 44 integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane protein transporter activity 0 CGTGAGGGGCCCGGATTTTGGC 0.505 NA 77 150 0 0 0.004672 0 0 KIAA0406 9675 broad.mit.edu 37 20 36641892 36641892 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr20:36641892G>A uc002xhl.2 - 3 536 c.327C>T c.(325-327)TCC>TCT p.S109S KIAA0406_uc002xhm.2_Silent_p.S109S NM_014657 NP_055472 O43156 TTI1_HUMAN hypothetical protein LOC9675 109 binding 0 Myeloproliferative disorder(115;0.00874) CAGGTTTTTGGGAGCTGGGTG 0.453 NA 53 108 0 0 0.01441 0 0 SFRS6 6431 broad.mit.edu 37 20 42088436 42088436 + Silent SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr20:42088436G>C uc010zwg.1 + 3 452 c.282G>C c.(280-282)CGG>CGC p.R94R SFRS6_uc002xki.2_5'UTR|SFRS6_uc002xkk.2_Silent_p.R94R NM_006275 NP_006266 Q13247 SRSF6_HUMAN arginine/serine-rich splicing factor 6 94 mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) ACAGCAGTCGGAGAACATCTG 0.403 NA 7 237 0 0 0.00308 0 0 SPATA2 9825 broad.mit.edu 37 20 48523254 48523254 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr20:48523254C>T uc010gie.2 - 3 815 c.465G>A c.(463-465)GAG>GAA p.E155E SPATA2_uc002xuw.2_Silent_p.E155E|SPATA2_uc010zyn.1_Silent_p.E18E NM_001135773 NP_001129245 Q9UM82 SPAT2_HUMAN spermatogenesis associated 2 155 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus central_nervous_system(1)|skin(1) 2 Hepatocellular(150;0.133) BRCA - Breast invasive adenocarcinoma(9;4.03e-06) CCTGGAGGGTCTCCACGAGCT 0.527 NA 21 47 0 0 0.004656 0 0 KCNQ2 3785 broad.mit.edu 37 20 62073780 62073780 + Silent SNP C C T rs148654588 TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr20:62073780C>T uc002yey.1 - 5 972 c.795G>A c.(793-795)GCG>GCA p.A265A KCNQ2_uc002yez.1_Silent_p.A265A|KCNQ2_uc002yfa.1_Silent_p.A265A|KCNQ2_uc002yfb.1_Silent_p.A265A|KCNQ2_uc011aax.1_Silent_p.A265A|KCNQ2_uc002yfc.1_Silent_p.A265A NM_172107 NP_742105 O43526 KCNQ2_HUMAN potassium voltage-gated channel KQT-like protein 265 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) AGAGTGCATCCGCGTAGGTGT 0.577 NA 8 440 0 0 0.004482 0 0 TPTE 7179 broad.mit.edu 37 21 10951323 10951323 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr21:10951323G>A uc002yip.1 - 10 757 c.389C>T c.(388-390)TCT>TTT p.S130F TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.S112F|TPTE_uc002yir.1_Missense_Mutation_p.S92F|TPTE_uc010gkv.1_5'UTR NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 130 Helical; (Potential). signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AATAGCTAGAGAAATAGAACG 0.343 NA 23 91 0 0 0.003954 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19737487 19737487 + Missense_Mutation SNP T T A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr21:19737487T>A uc002ykw.2 - 7 774 c.743A>T c.(742-744)GAA>GTA p.E248V NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 248 Extracellular (Potential).|CUB 1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 AACACTTGTTTCAGAAGGTTT 0.373 NA 30 78 0 0 0.003271 0 0 KRTAP15-1 254950 broad.mit.edu 37 21 31812989 31812989 + Missense_Mutation SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr21:31812989T>C uc002yod.2 + 1 344 c.344T>C c.(343-345)CTG>CCG p.L115P NM_181623 NP_853654 Q3LI76 KR151_HUMAN keratin associated protein 15-1 115 intermediate filament 0 TTCCAATCTCTGGACTGTGGG 0.493 NA 28 88 0 0 0.005443 0 0 SMTN 6525 broad.mit.edu 37 22 31486831 31486831 + Silent SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr22:31486831G>T uc003ajl.1 + 9 1121 c.903G>T c.(901-903)TCG>TCT p.S301S SMTN_uc003ajk.1_Silent_p.S301S|SMTN_uc003ajm.1_Silent_p.S301S|SMTN_uc011ale.1_Silent_p.S355S|SMTN_uc011alf.1_Silent_p.S357S|SMTN_uc003ajn.1_Silent_p.S293S|SMTN_uc011alg.1_5'Flank|SMTN_uc003ajo.1_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.1_5'Flank NM_006932 NP_008863 P53814 SMTN_HUMAN smoothelin isoform c 301 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle large_intestine(2)|pancreas(1) 3 GCTCCCTGTCGGTGCTCAGCC 0.627 NA 25 148 1.88708e-17 2.24563e-17 0.008361 1 0 LIMK2 3985 broad.mit.edu 37 22 31658126 31658126 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr22:31658126C>G uc003akh.2 + 6 703 c.558C>G c.(556-558)AAC>AAG p.N186K LIMK2_uc003akg.2_Missense_Mutation_p.N103K|LIMK2_uc003aki.2_Intron|LIMK2_uc003akj.2_Missense_Mutation_p.N165K|LIMK2_uc003akk.2_Missense_Mutation_p.N165K|LIMK2_uc011aln.1_Missense_Mutation_p.N103K NM_005569 NP_005560 P53671 LIMK2_HUMAN LIM domain kinase 2 isoform 2a 186 PDZ. mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding ovary(2) 2 CCAGGGTCAACCGGATGCACA 0.567 NA 27 162 0 0 0.007291 0 0 LARGE 9215 broad.mit.edu 37 22 33700318 33700318 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr22:33700318C>T uc003and.3 - 13 2206 c.1627G>A c.(1627-1629)GTG>ATG p.V543M LARGE_uc011amd.1_Missense_Mutation_p.V342M|LARGE_uc003ane.3_Missense_Mutation_p.V543M|LARGE_uc010gwp.2_Missense_Mutation_p.V491M|LARGE_uc011ame.1_Missense_Mutation_p.V475M|LARGE_uc011amf.1_Missense_Mutation_p.V543M NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 543 Lumenal (Potential). glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(1;0.219) AGCAGGTTCACGGGGTAGAAC 0.572 Colon(70;397 1175 4573 19089 45288) NA 34 116 0 0 0.005524 0 0 ISX 91464 broad.mit.edu 37 22 35463277 35463277 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr22:35463277G>T uc003anj.2 + 1 1148 c.197G>T c.(196-198)GGG>GTG p.G66V ISX_uc011amg.1_Missense_Mutation_p.G54V NM_001008494 NP_001008494 Q2M1V0 ISX_HUMAN intestine-specific homeobox 66 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2) 5 TCAGGCTCTGGGCTAGAAAAG 0.567 NA 4 8 0.00198382 0.00204689 0.001984 1 0 EFCAB6 64800 broad.mit.edu 37 22 43933318 43933318 + Silent SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr22:43933318C>G uc003bdy.1 - 29 4202 c.3987G>C c.(3985-3987)CTG>CTC p.L1329L EFCAB6_uc003bdz.1_Silent_p.L1177L|EFCAB6_uc010gzi.1_Silent_p.L1177L NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 1329 Interaction with PARK7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) TGCATTCTTTCAGGAGCTGGC 0.567 NA 10 187 0 0 0.006214 0 0 KIAA1644 85352 broad.mit.edu 37 22 44692714 44692714 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr22:44692714C>T uc003bet.2 - 3 252 c.119G>A c.(118-120)CGC>CAC p.R40H NM_001099294 NP_001092764 Q3SXP7 K1644_HUMAN hypothetical protein LOC85352 precursor 40 Extracellular (Potential). integral to membrane ovary(1) 1 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) AAAGTGGTAGCGGCCTTTGTG 0.547 NA 11 332 0 0 0.013537 0 0 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45244880 45244880 + Nonsense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr22:45244880C>T uc003bfd.2 + 15 1719 c.1447C>T c.(1447-1449)CGA>TGA p.R483* PRR5-ARHGAP8_uc003bfc.2_Nonsense_Mutation_p.R404*|PRR5-ARHGAP8_uc011aqi.1_Nonsense_Mutation_p.R395*|PRR5-ARHGAP8_uc011aqj.1_Nonsense_Mutation_p.R309*|ARHGAP8_uc003bfi.2_Nonsense_Mutation_p.R273*|ARHGAP8_uc010gzv.2_Nonsense_Mutation_p.R273*|ARHGAP8_uc003bfj.2_Nonsense_Mutation_p.R304*|ARHGAP8_uc003bfk.2_Nonsense_Mutation_p.R273*|ARHGAP8_uc003bfl.2_RNA NM_181335 NP_851852 Rho GTPase activating protein 8 isoform 2 skin(2) 2 GACCTTCCTGCGAGAGCTGCC 0.617 NA 5 194 0 0 0.000602 0 0 C3orf19 51244 broad.mit.edu 37 3 14712462 14712462 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr3:14712462G>C uc003byw.2 + 11 1256 c.1165G>C c.(1165-1167)GAG>CAG p.E389Q C3orf19_uc010hej.2_Missense_Mutation_p.E218Q NM_016474 NP_057558 Q6PII3 CC019_HUMAN hypothetical protein LOC51244 389 0 GAGAGATCCTGAGTTTGCCCC 0.488 NA 10 49 0 0 0.008291 0 0 COLQ 8292 broad.mit.edu 37 3 15515524 15515524 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr3:15515524C>T uc003bzx.2 - 10 745 c.619G>A c.(619-621)GGA>AGA p.G207R COLQ_uc003bzv.2_Missense_Mutation_p.G197R|COLQ_uc003bzz.2_Missense_Mutation_p.G198R|COLQ_uc010heo.2_Missense_Mutation_p.G173R|COLQ_uc003cac.1_RNA|COLQ_uc003cae.1_Missense_Mutation_p.G66R|COLQ_uc003cad.1_RNA NM_005677 NP_005668 Q9Y215 COLQ_HUMAN acetylcholinesterase collagen-like tail subunit 207 Collagen-like 1. acetylcholine catabolic process in synaptic cleft|asymmetric protein localization basal lamina|cell junction|collagen|extracellular space|synaptic cleft 0 CCCAACATTCCAGGAAATCCT 0.413 NA 3 46 0 0 0.004672 0 0 GADL1 339896 broad.mit.edu 37 3 30842577 30842577 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr3:30842577G>T uc003cep.2 - 12 1101 c.1054C>A c.(1054-1056)CTT>ATT p.L352I GADL1_uc003ceq.1_Missense_Mutation_p.L352I NM_207359 NP_997242 Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 352 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding 0 Pyridoxal Phosphate(DB00114) TTTTTAAGAAGATCCTTCGAA 0.353 NA 31 29 8.16721e-17 9.62275e-17 0.010818 1 0 CTNNB1 1499 broad.mit.edu 37 3 41266124 41266124 + Missense_Mutation SNP A A G rs121913412 TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr3:41266124A>G uc010hia.1 + 4 277 c.121A>G c.(121-123)ACC>GCC p.T41A CTNNB1_uc003ckp.2_Missense_Mutation_p.T41A|CTNNB1_uc003ckq.2_Missense_Mutation_p.T41A|CTNNB1_uc003ckr.2_Missense_Mutation_p.T41A|CTNNB1_uc011azf.1_Missense_Mutation_p.T34A|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA NM_001904 NP_001895 P35222 CTNB1_HUMAN beta-catenin 41 T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).|T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.T41A(466)|p.T41I(66)|p.A5_A80del(63)|p.H24_S47del(9)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.T41S(5)|p.T41N(4)|p.T41P(4)|p.W25_I140del(4)|p.V22_L139>V(2)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.T41T(2)|p.M5_N141>D(2)|p.?(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q72del(1)|p.A20_Q143del(1)|p.A5_Q143>E(1)|p.A20_Q72del(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A5_G80>(1)|p.A20_N141del(1)|p.M8_G50del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.D6_A43del(1)|p.A5_T42del(1)|p.V22_G80>NNNNN(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.D6_K133del(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.A5_D144>D(1)|p.A5_R90del(1)|p.W25_A80del(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A20_R151del(1)|p.L7_I140del(1)|p.G38_S45del(1)|p.A5_T40del(1)|p.E9_A80del(1)|p.K19_Y142>V(1)|p.D17_A126del(1)|p.A5_E54del(1)|p.V22_A80del(1)|p.M8_A80del(1)|p.E9_I140del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.M1_T42del(1)|p.D6_I140del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A20_L148del(1)|p.A39_T42del(1)|p.Q28_I140del(1)|p.S23_I140del(1)|p.E9_S47del(1)|p.Y30_A80del(1) CTNNB1/PLAG1(60) liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1) 3166 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) TGGTGCCACTACCACAGCTCC 0.507 Colon(6;3 56 14213 18255) T41A(CCK81_LARGE_INTESTINE) 15 H|Mis|T PLAG1 colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma Pilomatrixoma_Familial_Clustering_of 11 16 0 0 0.00245 0 0 SHQ1 55164 broad.mit.edu 37 3 72866403 72866403 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr3:72866403C>T uc003dpf.2 - 7 967 c.860G>A c.(859-861)CGT>CAT p.R287H SHQ1_uc010hod.2_Missense_Mutation_p.R198H NM_018130 NP_060600 Q6PI26 SHQ1_HUMAN SHQ1 homolog 287 ribonucleoprotein complex assembly cytosol|nucleoplasm protein binding ovary(2)|large_intestine(1) 3 Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213) TTCAGTGACACGGGTTTCATA 0.408 NA 19 63 0 0 0.010504 0 0 PODXL2 50512 broad.mit.edu 37 3 127381120 127381120 + Missense_Mutation SNP A A G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr3:127381120A>G uc003ejq.2 + 4 1196 c.1172A>G c.(1171-1173)TAC>TGC p.Y391C NM_015720 NP_056535 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 precursor 391 Extracellular (Potential). leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding ovary(1)|central_nervous_system(1) 2 GGGAAAAACTACATCATTCTG 0.552 NA 22 38 0 0 0.005443 0 0 IFT122 55764 broad.mit.edu 37 3 129183488 129183488 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr3:129183488G>T uc003emm.2 + 7 633 c.427G>T c.(427-429)GAT>TAT p.D143Y IFT122_uc003eml.2_Missense_Mutation_p.D194Y|IFT122_uc003emn.2_Missense_Mutation_p.D143Y|IFT122_uc003emo.2_Missense_Mutation_p.D91Y|IFT122_uc003emp.2_5'UTR|IFT122_uc010htc.2_Missense_Mutation_p.D194Y|IFT122_uc011bky.1_5'UTR|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_5'UTR|IFT122_uc011bla.1_5'UTR|IFT122_uc011bkx.1_Intron|IFT122_uc011bkz.1_RNA NM_052989 NP_443715 Q9HBG6 IF122_HUMAN WD repeat domain 10 isoform 2 143 WD 4. camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium ovary(1)|skin(1) 2 CTGGACAAATGATGGTCAGTA 0.502 NA 12 214 1.61879e-10 1.80596e-10 0.013537 1 0 ACPL2 92370 broad.mit.edu 37 3 141006210 141006210 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr3:141006210C>T uc003etu.2 + 7 719 c.420C>T c.(418-420)TCC>TCT p.S140S ACPL2_uc003etv.2_Silent_p.S140S|ACPL2_uc011bna.1_Silent_p.S102S|ACPL2_uc011bnb.1_Silent_p.S123S NM_152282 NP_689495 Q8TE99 ACPL2_HUMAN acid phosphatase-like 2 precursor 140 extracellular region acid phosphatase activity skin(1) 1 CAAAAGGATCCGGAGCCTCTT 0.483 NA 85 225 0 0 0.01441 0 0 WHSC1 7468 broad.mit.edu 37 4 1976612 1976612 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:1976612C>T uc003gdz.3 + 19 3571 c.3395C>T c.(3394-3396)CCC>CTC p.P1132L WHSC1_uc003geb.3_Missense_Mutation_p.P1132L|WHSC1_uc003gec.3_Missense_Mutation_p.P1132L|WHSC1_uc003ged.3_Missense_Mutation_p.P1132L|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.P351L|WHSC1_uc011bvh.1_Missense_Mutation_p.P193L|WHSC1_uc010icf.2_Missense_Mutation_p.P480L NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 1132 SET. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) GACGCTGGCCCCAAAGGAAAC 0.453 NA T IGH@ MM 4 175 0 0 0.000602 0 0 LPHN3 23284 broad.mit.edu 37 4 62863911 62863911 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:62863911G>T uc010ihh.2 + 18 3292 c.3119G>T c.(3118-3120)GGG>GTG p.G1040V LPHN3_uc003hcq.3_Missense_Mutation_p.G1040V|LPHN3_uc003hct.2_Missense_Mutation_p.G433V NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 1027 Helical; Name=5; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 ATCTTCCTTGGGATTGCTTTA 0.303 NA 9 29 2.80697e-09 3.09287e-09 0.010729 1 0 NPFFR2 10886 broad.mit.edu 37 4 73012878 73012878 + Nonsense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:73012878C>G uc003hgg.2 + 4 1016 c.918C>G c.(916-918)TAC>TAG p.Y306* NPFFR2_uc010iig.1_Nonsense_Mutation_p.Y88*|NPFFR2_uc003hgi.2_Nonsense_Mutation_p.Y207*|NPFFR2_uc003hgh.2_Nonsense_Mutation_p.Y204*|NPFFR2_uc003hgj.2_RNA NM_004885 NP_004876 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 isoform 1 306 Extracellular (Potential). detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) GTCCAGTCTACTGGTGCCGGG 0.463 NA 9 80 0 0 0.008291 0 0 SCARB2 950 broad.mit.edu 37 4 77116918 77116918 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:77116918C>G uc003hju.1 - 2 556 c.217G>C c.(217-219)GAG>CAG p.E73Q SCARB2_uc011cbu.1_Missense_Mutation_p.E73Q NM_005506 NP_005497 Q14108 SCRB2_HUMAN scavenger receptor class B, member 2 73 Lumenal (Potential). cell adhesion|protein targeting to lysosome integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction enzyme binding|receptor activity 0 Lung(101;0.196) AGGATCTCCTCTGGATTGGTG 0.488 NA 7 127 0 0 0.001984 0 0 CNOT6L 246175 broad.mit.edu 37 4 78652569 78652569 + Missense_Mutation SNP T T G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:78652569T>G uc011ccd.1 - 9 1127 c.996A>C c.(994-996)TTA>TTC p.L332F CNOT6L_uc003hks.2_Missense_Mutation_p.L332F|CNOT6L_uc003hkt.1_Missense_Mutation_p.L175F NM_144571 NP_653172 Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 332 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding large_intestine(1) 1 TGTGGACCTCTAATACCACAG 0.388 NA 6 15 0 0 0.00308 0 0 GK2 2712 broad.mit.edu 37 4 80329119 80329119 + Missense_Mutation SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:80329119T>C uc003hlu.2 - 1 254 c.236A>G c.(235-237)AAT>AGT p.N79S NM_033214 NP_149991 Q14410 GLPK2_HUMAN glycerol kinase 2 79 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity ovary(2)|skin(2) 4 TATATCAATATTCAGTTCGTC 0.428 NA 83 104 0 0 0.01441 0 0 WDFY3 23001 broad.mit.edu 37 4 85716110 85716111 + Missense_Mutation DNP CC CC AG TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:85716110_85716111CC>AG uc003hpd.2 - 20 3597_3598 c.3189_3190GG>CT c.(3187-3192)TTGGCC>TTCTCC p.1063_1064LA>FS NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 1063_1064 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TTATGAGGGGCCAAACTGGGCA 0.391 NA 8 19 0 0 0.004672 0 0 HERC6 55008 broad.mit.edu 37 4 89334306 89334306 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:89334306C>T uc011cdi.1 + 12 1629 c.1446C>T c.(1444-1446)TTC>TTT p.F482F HERC6_uc011cdj.1_Silent_p.F482F|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA NM_017912 NP_060382 Q8IVU3 HERC6_HUMAN hect domain and RLD 6 isoform 1 482 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity lung(3)|ovary(1)|kidney(1) 5 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) TATCAGTTTTCCTCCTGCTCC 0.443 NA 30 226 0 0 0.012213 0 0 GRID2 2895 broad.mit.edu 37 4 93225765 93225765 + Translation_Start_Site SNP T T A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:93225765T>A uc011cdt.1 + 1 216 c.-42T>A c.(-44--40)AATTG>AAATG GRID2_uc010ikx.2_Translation_Start_Site|GRID2_uc011cdu.1_Translation_Start_Site NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) AAAAAAAAAATTGGAAGAAAA 0.423 NA 11 28 0 0 0.001855 0 0 FAT4 79633 broad.mit.edu 37 4 126240611 126240611 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:126240611C>T uc003ifj.3 + 1 3045 c.3045C>T c.(3043-3045)TTC>TTT p.F1015F NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1015 Cadherin 10.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 ATTCTCGATTCTTTAAAGTAC 0.393 NA 36 67 0 0 0.004878 0 0 SCLT1 132320 broad.mit.edu 37 4 129925026 129925026 + Missense_Mutation SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:129925026T>C uc003igp.2 - 6 802 c.296A>G c.(295-297)CAC>CGC p.H99R SCLT1_uc003igq.2_Missense_Mutation_p.H99R|SCLT1_uc010iob.1_Intron NM_144643 NP_653244 Q96NL6 SCLT1_HUMAN sodium channel associated protein 1 99 Potential. centrosome ovary(3)|lung(1)|central_nervous_system(1) 5 TAATTCACTGTGCAACCTTTG 0.368 NA 15 24 0 0 0.014323 0 0 NAA15 80155 broad.mit.edu 37 4 140270690 140270690 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:140270690G>A uc003ihu.1 + 7 1022 c.766G>A c.(766-768)GAA>AAA p.E256K NM_057175 NP_476516 Q9BXJ9 NAA15_HUMAN NMDA receptor regulated 1 256 TPR 4. angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding ovary(1)|skin(1) 2 GAGAAATCCTGAAAACTGGGC 0.323 NA 7 30 0 0 0.008291 0 0 INPP4B 8821 broad.mit.edu 37 4 143081533 143081533 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:143081533G>A uc003iix.3 - 18 2136 c.1541C>T c.(1540-1542)TCA>TTA p.S514L INPP4B_uc003iiw.3_Missense_Mutation_p.S514L|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.S329L|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Missense_Mutation_p.S385L NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 514 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) ATCATAGTCTGAATGATGTGG 0.473 NA 14 68 0 0 0.00245 0 0 FAT1 2195 broad.mit.edu 37 4 187627769 187627769 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:187627769G>A uc003izf.2 - 2 3401 c.3213C>T c.(3211-3213)TAC>TAT p.Y1071Y FAT1_uc010iso.1_Silent_p.Y1071Y NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1071 Extracellular (Potential).|Cadherin 9. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CTCTAATGGAGTATCGGATCT 0.433 Colon(197;1040 2055 4143 4984 49344) NA HNSCC(5;0.00058) 45 140 0 0 0.01441 0 0 CEP72 55722 broad.mit.edu 37 5 639206 639206 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr5:639206G>A uc003jbf.2 + 8 1281 c.1209G>A c.(1207-1209)CCG>CCA p.P403P CEP72_uc011clz.1_RNA NM_018140 NP_060610 Q9P209 CEP72_HUMAN centrosomal protein 72 kDa 403 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol ovary(1) 1 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) CATCACAGCCGTCTCCCGGGT 0.652 NA 14 94 0 0 0.001855 0 0 ZDHHC11 79844 broad.mit.edu 37 5 840734 840734 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr5:840734G>T uc011cma.1 - 5 1044 c.660C>A c.(658-660)TTC>TTA p.F220L ZDHHC11_uc003jbj.2_RNA|ZDHHC11_uc010itd.1_RNA|ZDHHC11_uc003jbk.2_Missense_Mutation_p.F7L NM_024786 NP_079062 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 220 integral to membrane acyltransferase activity|zinc ion binding skin(1)|pancreas(1) 2 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) ACAGGGGGAGGAACAGCAGCC 0.592 NA 38 721 6.03219e-31 7.45153e-31 0.01441 1 0 FBXL7 23194 broad.mit.edu 37 5 15937008 15937008 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr5:15937008C>T uc003jfn.1 + 4 1670 c.1189C>T c.(1189-1191)CTC>TTC p.L397F NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 397 LRR 9. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 TGTGGAGTACCTCGCCAAGAA 0.602 NA 6 29 0 0 0.00308 0 0 CDH10 1008 broad.mit.edu 37 5 24537720 24537720 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr5:24537720C>A uc003jgr.1 - 3 627 c.295G>T c.(295-297)GGT>TGT p.G99C CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 99 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) AAAAGAGTACCAGCTCCATCT 0.373 NA HNSCC(23;0.051) 9 36 6.40141e-05 6.74131e-05 0.010729 1 0 CDH9 1007 broad.mit.edu 37 5 26906156 26906156 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr5:26906156C>A uc003jgs.1 - 5 892 c.723G>T c.(721-723)ATG>ATT p.M241I CDH9_uc010iug.2_Missense_Mutation_p.M241I NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 241 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 TCTGGCCACCCATGTCTTTGG 0.448 Melanoma(8;187 585 15745 40864 52829) NA 34 104 1.07637e-12 1.23161e-12 0.004878 1 0 RAI14 26064 broad.mit.edu 37 5 34824141 34824141 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr5:34824141G>C uc003jir.2 + 15 2390 c.2194G>C c.(2194-2196)GAA>CAA p.E732Q RAI14_uc010iur.2_Missense_Mutation_p.E703Q|RAI14_uc011coj.1_Missense_Mutation_p.E732Q|RAI14_uc003jis.2_Missense_Mutation_p.E735Q|RAI14_uc003jit.2_Missense_Mutation_p.E732Q|RAI14_uc011cok.1_Missense_Mutation_p.E724Q NM_015577 NP_056392 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 isoform a 732 Potential. cell cortex|cytoskeleton protein binding ovary(1) 1 all_lung(31;0.000191) CTCTATCACAGAACATTTGCA 0.413 NA 5 81 0 0 0.001168 0 0 PRKAA1 5562 broad.mit.edu 37 5 40764982 40764982 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr5:40764982G>C uc003jmc.2 - 7 1186 c.1180C>G c.(1180-1182)CCA>GCA p.P394A PRKAA1_uc003jmb.2_Missense_Mutation_p.P409A NM_006251 NP_006242 Q13131 AAPK1_HUMAN protein kinase, AMP-activated, alpha 1 catalytic 394 activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia cytosol ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding breast(1) 1 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914) GATTTCTGTGGATTTAATTCA 0.418 NA 8 51 0 0 0.00308 0 0 RAD17 5884 broad.mit.edu 37 5 68670478 68670478 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr5:68670478G>A uc003jwo.2 + 3 386 c.324G>A c.(322-324)AAG>AAA p.K108K RAD17_uc003jwg.2_Silent_p.K97K|RAD17_uc003jwh.2_Silent_p.K97K|RAD17_uc003jwi.2_Silent_p.K97K|RAD17_uc003jwj.2_Silent_p.K97K|RAD17_uc003jwk.2_Silent_p.K97K|RAD17_uc003jwl.2_Silent_p.K97K|RAD17_uc003jwm.2_5'UTR|RAD17_uc003jwn.2_Silent_p.K11K NM_133339 NP_579917 O75943 RAD17_HUMAN RAD17 homolog isoform 2 108 cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding 0 Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) TGCATAAAAAGAAAATTGAAG 0.284 NA Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 5 28 0 0 0.001168 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589829 140589829 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr5:140589829C>T uc003liz.2 + 1 1539 c.1350C>T c.(1348-1350)GCC>GCT p.A450A PCDHB12_uc011dak.1_Silent_p.A113A NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 450 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACGCCCCCGCCTTCACCCAAA 0.602 NA 64 61 0 0 0.01441 0 0 PCDHGB5 56101 broad.mit.edu 37 5 140777700 140777700 + Silent SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr5:140777700G>T uc003lkf.1 + 1 6 c.6G>T c.(4-6)GGG>GGT p.G2G PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.G2G NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 2 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGGGATGGGGAGCGGCGCCG 0.577 NA OREG0016860 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 5 2.56e-06 2.7445e-06 0.009096 1 0 SLC17A2 10246 broad.mit.edu 37 6 25917311 25917311 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:25917311G>A uc011dkb.1 - 6 737 c.654C>T c.(652-654)AGC>AGT p.S218S SLC17A2_uc011dkc.1_Silent_p.S218S|SLC17A2_uc003nfl.2_Silent_p.S218S O00624 NPT3_HUMAN SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2; 218 Helical; (Potential). phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity ovary(1) 1 CACAGCCAGTGCTACCTGGGA 0.463 NA 8 99 0 0 0.010729 0 0 OR2J3 442186 broad.mit.edu 37 6 29080183 29080183 + Nonsense_Mutation SNP T T A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:29080183T>A uc011dll.1 + 1 516 c.516T>A c.(514-516)TGT>TGA p.C172* NM_001005216 NP_001005216 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, 172 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TACCTCTGTGTGGACACCGCC 0.493 NA 14 121 0 0 0.00245 0 0 PBX2 5089 broad.mit.edu 37 6 32156269 32156270 + Missense_Mutation DNP CG CG GA TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:32156269_32156270CG>GA uc003oav.1 - 3 578_579 c.307_308CG>TC c.(307-309)CGG>TCG p.R103S PBX2_uc003oaw.2_Missense_Mutation_p.R103S NM_002586 NP_002577 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 103 transcription factor binding ovary(1) 1 CTGGGAGCTCCGAATGCTGAGG 0.629 NA 13 37 0 0 0.004672 0 0 DAXX 1616 broad.mit.edu 37 6 33289610 33289610 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:33289610C>T uc003oec.2 - 2 297 c.93G>A c.(91-93)GCG>GCA p.A31A DAXX_uc011drd.1_Intron|DAXX_uc011dre.1_Silent_p.A43A|DAXX_uc003oed.2_Silent_p.A31A|DAXX_uc010juw.2_5'UTR NM_001350 NP_001341 Q9UER7 DAXX_HUMAN death-domain associated protein isoform a 31 Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding pancreas(18)|ovary(2)|skin(2)|prostate(1) 23 CAGGTGAGGCCGCATTGGGGA 0.592 NA Mis|F|N Pancreatic neuroendocrine tumors 126 135 0 0 0.01441 0 0 KIF6 221458 broad.mit.edu 37 6 39512386 39512386 + Silent SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:39512386T>C uc003oot.2 - 12 1466 c.1371A>G c.(1369-1371)AAA>AAG p.K457K KIF6_uc010jxa.1_Silent_p.K248K|KIF6_uc011dua.1_Silent_p.K457K|KIF6_uc010jxb.1_Silent_p.K457K NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN kinesin family member 6 457 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1) 3 ATTCTTCTTCTTTTAATGGTT 0.338 NA 6 63 0 0 0.001168 0 0 FRS3 10817 broad.mit.edu 37 6 41743230 41743230 + Silent SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:41743230G>T uc003orc.1 - 4 424 c.180C>A c.(178-180)CTC>CTA p.L60L NM_006653 NP_006644 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 60 IRS-type PTB. fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding ovary(2) 2 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GCCGCAAGCAGAGATAAGGCC 0.632 NA 6 38 0.000157383 0.000164286 0.00308 1 0 AARS2 57505 broad.mit.edu 37 6 44274243 44274243 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:44274243C>A uc010jza.1 - 8 1179 c.1176G>T c.(1174-1176)AGG>AGT p.R392S SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron NM_020745 NP_065796 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 392 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding ovary(1) 1 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) GGGCTGAGTTCCTTTGCAGTT 0.592 NA 26 732 9.21846e-06 9.82386e-06 0.013726 1 0 PGK2 5232 broad.mit.edu 37 6 49753774 49753774 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:49753774G>T uc003ozu.2 - 1 1234 c.1127C>A c.(1126-1128)ACT>AAT p.T376N NM_138733 NP_620061 P07205 PGK2_HUMAN phosphoglycerate kinase 2 376 ATP (By similarity). glycolysis cytosol ATP binding|phosphoglycerate kinase activity ovary(1) 1 Lung NSC(77;0.0402) GCAAGTAGCAGTGTCTCCACC 0.488 NA 81 218 1.19347e-43 1.50554e-43 0.01441 1 0 ME1 4199 broad.mit.edu 37 6 84025049 84025049 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:84025049G>A uc003pjy.2 - 6 790 c.684C>T c.(682-684)TTC>TTT p.F228F ME1_uc011dzb.1_Silent_p.F153F|ME1_uc011dzc.1_Silent_p.F62F NM_002395 NP_002386 P48163 MAOX_HUMAN cytosolic malic enzyme 1 228 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) CTGCCTCCATGAATTCGTCCA 0.308 NA 7 64 0 0 0.006214 0 0 MDN1 23195 broad.mit.edu 37 6 90438775 90438775 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:90438775C>A uc003pnn.1 - 36 5340 c.5224G>T c.(5224-5226)GCT>TCT p.A1742S NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 1742 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AGTTTGGTAGCTCTTAAGAGC 0.478 NA 7 65 0.00198382 0.00204689 0.001984 1 0 MDN1 23195 broad.mit.edu 37 6 90503650 90503650 + Missense_Mutation SNP T T A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:90503650T>A uc003pnn.1 - 5 802 c.686A>T c.(685-687)CAG>CTG p.Q229L MDN1_uc003pnp.1_Missense_Mutation_p.Q229L NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 229 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CTCCAAGTCCTGCAACTGGGC 0.498 NA 19 32 0 0 0.00278 0 0 SCML4 256380 broad.mit.edu 37 6 108041921 108041921 + Missense_Mutation SNP T T A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:108041921T>A uc010kdf.2 - 6 1210 c.959A>T c.(958-960)GAA>GTA p.E320V SCML4_uc003prz.3_Missense_Mutation_p.E262V|SCML4_uc011eam.1_Missense_Mutation_p.E320V|SCML4_uc003pry.3_Missense_Mutation_p.E78V|SCML4_uc003psa.3_Missense_Mutation_p.E291V NM_198081 NP_932347 Q8N228 SCML4_HUMAN sex comb on midleg-like 4 320 SAM. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316) BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758) TCTGTTTCCTTCAAGAGAGGT 0.597 NA 40 189 0 0 0.009718 0 0 LAMA2 3908 broad.mit.edu 37 6 129762061 129762061 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:129762061C>T uc003qbn.2 + 43 6291 c.6186C>T c.(6184-6186)CTC>CTT p.L2062L LAMA2_uc003qbo.2_Silent_p.L2062L NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 2062 Domain II and I.|Potential. 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) ACCAGAACCTCGATGGCCTGA 0.443 NA 4 74 0 0 0.000602 0 0 AHI1 54806 broad.mit.edu 37 6 135763829 135763829 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:135763829G>C uc003qgi.2 - 14 2187 c.1803C>G c.(1801-1803)CAC>CAG p.H601Q AHI1_uc003qgf.2_RNA|AHI1_uc003qgg.2_Missense_Mutation_p.H51Q|AHI1_uc003qgh.2_Missense_Mutation_p.H601Q|AHI1_uc003qgj.2_Missense_Mutation_p.H601Q|AHI1_uc003qgk.3_Intron|AHI1_uc003qgl.3_Missense_Mutation_p.H601Q NM_001134831 NP_001128303 Q8N157 AHI1_HUMAN Abelson helper integration site 1 isoform a 601 adherens junction|cilium|microtubule basal body ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) GTGAGAAGAGGTGTTTGTTTG 0.373 NA 4 7 0 0 0.000602 0 0 NUP43 348995 broad.mit.edu 37 6 150064778 150064778 + Missense_Mutation SNP T T A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:150064778T>A uc003qmz.2 - 3 374 c.317A>T c.(316-318)AAC>ATC p.N106I NUP43_uc011eee.1_RNA|NUP43_uc011eef.1_Missense_Mutation_p.N106I NM_198887 NP_942590 Q8NFH3 NUP43_HUMAN nucleoporin 43kDa 106 WD 2. carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding upper_aerodigestive_tract(1) 1 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101) CTTTACCTGGTTATTTGGATG 0.229 NA 16 23 0 0 0.008871 0 0 TULP4 56995 broad.mit.edu 37 6 158924616 158924616 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:158924616G>A uc003qrf.2 + 13 5278 c.3921G>A c.(3919-3921)GTG>GTA p.V1307V TULP4_uc003qrg.2_Intron NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN tubby like protein 4 isoform 1 1307 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) GCACAGAGGTGATGGTAGAGA 0.592 NA 14 99 0 0 0.003163 0 0 PDGFA 5154 broad.mit.edu 37 7 552037 552037 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:552037C>G uc003sir.2 - 3 1059 c.216G>C c.(214-216)AAG>AAC p.K72N PDGFA_uc003sis.2_Missense_Mutation_p.K72N|PDGFA_uc003sit.1_Missense_Mutation_p.K86N NM_002607 NP_002598 P04085 PDGFA_HUMAN platelet-derived growth factor alpha isoform 1 72 actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity 0 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15) CGGGCACATGCTTAGTGGCAT 0.502 NA 4 68 0 0 0.000602 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22259492 22259492 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:22259492G>A uc003svg.2 - 9 843 c.530C>T c.(529-531)TCT>TTT p.S177F NM_012294 NP_036426 Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 Error:Variant_position_missing_in_Q92565_after_alignment nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity ovary(1) 1 TACGTGTTCAGACTTCTCCTG 0.403 NA 6 71 0 0 0.001168 0 0 AQP1 358 broad.mit.edu 37 7 30963178 30963178 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:30963178C>T uc003tbv.1 + 4 801 c.744C>T c.(742-744)GGC>GGT p.G248G AQP1_uc011kac.1_Silent_p.G308G|AQP1_uc010kwf.1_Silent_p.G165G|AQP1_uc010kwg.1_Silent_p.G129G|AQP1_uc010kwh.1_Silent_p.G197G NM_198098 NP_932766 P29972 AQP1_HUMAN aquaporin 1 248 Cytoplasmic. ammonium transport|cell volume homeostasis|cellular hyperosmotic response|cellular response to cAMP|cellular response to copper ion|cellular response to dexamethasone stimulus|cellular response to hydrogen peroxide|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to mercury ion|cellular response to nitric oxide|cellular response to retinoic acid|cellular response to salt stress|cellular response to UV|cerebrospinal fluid secretion|cGMP biosynthetic process|establishment or maintenance of actin cytoskeleton polarity|lateral ventricle development|maintenance of symbiont-containing vacuole via substance secreted by host|negative regulation of apoptosis|odontogenesis|pancreatic juice secretion|positive regulation of angiogenesis|positive regulation of fibroblast proliferation|positive regulation of saliva secretion|renal water transport|response to drug|transepithelial water transport apical plasma membrane|basal plasma membrane|brush border membrane|cytoplasm|integral to plasma membrane|nuclear membrane|sarcolemma|symbiont-containing vacuole ammonia transmembrane transporter activity|carbon dioxide transmembrane transporter activity|glycerol transmembrane transporter activity|intracellular cGMP activated cation channel activity|nitric oxide transmembrane transporter activity|potassium channel activity|potassium ion transmembrane transporter activity|protein binding|water channel activity 0 Melanoma(862;0.16) Acetazolamide(DB00819) GGACCAGCGGCCAGGTGGAGG 0.617 NA 16 49 0 0 0.010504 0 0 KIAA0895 23366 broad.mit.edu 37 7 36366473 36366473 + Missense_Mutation SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:36366473T>C uc003tfd.2 - 7 1510 c.1459A>G c.(1459-1461)AGG>GGG p.R487G KIAA0895_uc003tfc.2_Missense_Mutation_p.R474G|KIAA0895_uc011kaw.1_Missense_Mutation_p.R384G|KIAA0895_uc003tfb.2_Missense_Mutation_p.R436G|KIAA0895_uc011kax.1_Missense_Mutation_p.R484G NM_001100425 NP_001093895 Q8NCT3 K0895_HUMAN hypothetical protein LOC23366 isoform 1 487 0 TGAGGGACCCTCATGTTTTCG 0.383 NA 4 163 0 0 0.009096 0 0 SEC61G 23480 broad.mit.edu 37 7 54823477 54823477 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:54823477G>A uc003tqf.2 - 3 283 c.192C>T c.(190-192)ATC>ATT p.I64I SEC61G_uc003tqg.2_Silent_p.I64I NM_001012456 NP_001012474 P60059 SC61G_HUMAN Sec61 gamma subunit 64 Extracellular (Potential). protein targeting to ER endoplasmic reticulum membrane|integral to membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity lung(1) 1 Esophageal squamous(2;7.55e-08)|Breast(14;0.0654) Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164) CTTACACAATGATGTTATTAA 0.333 NA 13 82 0 0 0.013537 0 0 ZNF479 90827 broad.mit.edu 37 7 57188723 57188723 + Silent SNP A A T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:57188723A>T uc010kzo.2 - 5 670 c.399T>A c.(397-399)GGT>GGA p.G133G NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 133 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) CCTCATATTCACCCACACTTT 0.338 NA 46 91 0 0 0.01441 0 0 ZNF92 168374 broad.mit.edu 37 7 64852924 64852924 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:64852924G>A uc003ttz.2 + 2 256 c.113G>A c.(112-114)AGA>AAA p.R38K ZNF92_uc003tua.2_Intron|ZNF92_uc010kzu.2_Missense_Mutation_p.R38K|ZNF92_uc003tub.2_Intron NM_152626 NP_689839 Q03936 ZNF92_HUMAN zinc finger protein 92 isoform 2 38 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Lung NSC(55;0.159) GAGAACTACAGAAACCTGGTC 0.363 NA 6 176 0 0 0.001984 0 0 AKAP9 10142 broad.mit.edu 37 7 91737903 91737903 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:91737903C>T uc003ulg.2 + 49 11867 c.11642C>T c.(11641-11643)ACT>ATT p.T3881I AKAP9_uc003ulf.2_Missense_Mutation_p.T3873I|AKAP9_uc003uli.2_Missense_Mutation_p.T3504I|AKAP9_uc003ulj.2_Missense_Mutation_p.T1651I|AKAP9_uc003ull.2_Missense_Mutation_p.T777I NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 3885 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GATTATATCACTCGGCTAGAG 0.488 NA T BRAF papillary thyroid 11 97 0 0 0.010729 0 0 PIK3CG 5294 broad.mit.edu 37 7 106508499 106508499 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:106508499G>A uc003vdv.3 + 2 578 c.493G>A c.(493-495)GTC>ATC p.V165I PIK3CG_uc003vdu.2_Missense_Mutation_p.V165I|PIK3CG_uc003vdw.2_Missense_Mutation_p.V165I NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 165 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 CGTCACTGACGTCAGCAACGT 0.677 NA 6 26 0 0 0.001984 0 0 DOCK4 9732 broad.mit.edu 37 7 111617307 111617307 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:111617307G>A uc003vfx.2 - 8 850 c.581C>T c.(580-582)CCG>CTG p.P194L DOCK4_uc003vfy.2_Missense_Mutation_p.P194L|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.P194L|DOCK4_uc003vgb.1_Missense_Mutation_p.P118L NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 194 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) GGCCTGCACCGGGGTGTCTTT 0.498 NA 4 15 0 0 0.009096 0 0 DOCK4 9732 broad.mit.edu 37 7 111634226 111634226 + Silent SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:111634226T>C uc003vfx.2 - 5 548 c.279A>G c.(277-279)TTA>TTG p.L93L DOCK4_uc003vfy.2_Silent_p.L93L|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Silent_p.L93L|DOCK4_uc003vgb.1_Silent_p.L17L NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 93 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) CCCAGTCTCTTAATGTTGATG 0.313 NA 15 56 0 0 0.004007 0 0 KCND2 3751 broad.mit.edu 37 7 119915637 119915637 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:119915637G>A uc003vjj.1 + 1 1916 c.951G>A c.(949-951)CTG>CTA p.L317L NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 317 Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) GGTACACACTGAAGAGTTGTG 0.522 NA 11 104 0 0 0.001855 0 0 GRM8 2918 broad.mit.edu 37 7 126173585 126173585 + Silent SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:126173585T>C uc003vlr.2 - 8 2162 c.1851A>G c.(1849-1851)TCA>TCG p.S617S GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.S617S|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 617 Cytoplasmic (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) GTTCGCGTCCTGAAGCCCTCA 0.453 NA HNSCC(24;0.065) 3 63 0 0 0.000602 0 0 CCDC136 64753 broad.mit.edu 37 7 128457828 128457828 + Missense_Mutation SNP A A G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:128457828A>G uc003vnv.1 + 17 3747 c.3380A>G c.(3379-3381)AAT>AGT p.N1127S CCDC136_uc003vnu.1_Missense_Mutation_p.N407S|CCDC136_uc003vnw.1_Missense_Mutation_p.N488S|CCDC136_uc003vnx.1_Intron|CCDC136_uc010llq.1_Intron|CCDC136_uc003vny.1_Intron NM_022742 NP_073579 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 1127 integral to membrane protein binding ovary(2) 2 CCTACCCCCAATCCCCCCATC 0.517 NA 62 273 0 0 0.01441 0 0 KLHDC10 23008 broad.mit.edu 37 7 129736765 129736765 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:129736765G>C uc003vpj.1 + 2 306 c.171G>C c.(169-171)AAG>AAC p.K57N KLHDC10_uc003vpk.1_Intron|KLHDC10_uc010lmb.1_Intron NM_014997 NP_055812 Q6PID8 KLD10_HUMAN kelch domain containing 10 57 0 TAACAGGTAAGAAGAAAATAC 0.383 NA 4 42 0 0 0.000602 0 0 BRAF 673 broad.mit.edu 37 7 140481402 140481402 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:140481402C>A uc003vwc.3 - 11 1467 c.1406G>T c.(1405-1407)GGA>GTA p.G469V NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 469 ATP (By similarity).|Protein kinase. G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.G469A(19)|p.G469V(12)|p.G469S(6)|p.G469R(6)|p.G469E(5) KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2) thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1) 18290 Melanoma(164;0.00956) Sorafenib(DB00398) GTAGACTGTTCCAAATGATCC 0.373 Colon(40;35 892 2973 5743 27438) G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG) 61 Mis|T|O AKAP9|KIAA1549 melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous_syndrome 56 108 2.32099e-22 2.82796e-22 0.01441 1 0 ESYT2 57488 broad.mit.edu 37 7 158555808 158555808 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:158555808C>T uc003wob.1 - 10 1360 c.1294G>A c.(1294-1296)GAT>AAT p.D432N ESYT2_uc003woc.1_Missense_Mutation_p.D256N|ESYT2_uc003wod.1_Missense_Mutation_p.D432N|ESYT2_uc003woa.1_5'UTR NM_020728 NP_065779 A0FGR8 ESYT2_HUMAN family with sequence similarity 62 (C2 domain 460 C2 1. integral to membrane|plasma membrane central_nervous_system(2)|kidney(1) 3 GGGTCTTCATCAAAGAGCTCA 0.358 NA 9 39 0 0 0.013537 0 0 INTS9 55756 broad.mit.edu 37 8 28654152 28654152 + Silent SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr8:28654152G>C uc003xha.2 - 9 1064 c.765C>G c.(763-765)CTC>CTG p.L255L INTS9_uc011lav.1_Silent_p.L231L|INTS9_uc011law.1_Silent_p.L234L|INTS9_uc011lax.1_Silent_p.L148L|INTS9_uc010lvc.2_RNA|INTS9_uc003xhb.2_Silent_p.L255L NM_018250 NP_060720 Q9NV88 INT9_HUMAN integrator complex subunit 9 isoform 1 255 snRNA processing integrator complex protein binding central_nervous_system(1)|pancreas(1) 2 Ovarian(32;0.0439) KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152) CGCTGTTTTTGAGAGAAGCTT 0.433 NA 25 34 0 0 0.00333 0 0 WRN 7486 broad.mit.edu 37 8 30924661 30924661 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr8:30924661C>T uc003xio.3 + 6 1405 c.617C>T c.(616-618)ACT>ATT p.T206I NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 206 Interaction with WRNIP1 (By similarity).|3'-5' exonuclease. base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) TTTCCTCTCACTGAGGACCAG 0.383 Ovarian(18;161 598 2706 14834 27543) NA Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome 6 49 0 0 0.001984 0 0 UNC5D 137970 broad.mit.edu 37 8 35584047 35584047 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr8:35584047G>A uc003xjr.1 + 10 2009 c.1681G>A c.(1681-1683)GGG>AGG p.G561R UNC5D_uc003xjs.1_Missense_Mutation_p.G556R|UNC5D_uc003xju.1_Missense_Mutation_p.G137R|UNC5D_uc003xjt.1_Missense_Mutation_p.G319S NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 561 ZU5.|Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GCCAAATACAGGTGGGTGGTA 0.418 NA 7 297 0 0 0.00308 0 0 SGK196 84197 broad.mit.edu 37 8 42977285 42977285 + Silent SNP A A G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr8:42977285A>G uc003xpw.2 + 5 577 c.318A>G c.(316-318)GCA>GCG p.A106A NM_032237 NP_115613 Q9H5K3 SG196_HUMAN protein kinase-like protein SgK196 106 Protein kinase. integral to membrane ATP binding|protein kinase activity 0 ACAAAGTTGCACTCTCACAGC 0.473 NA 345 148 0 0 0.01441 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68112721 68112721 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr8:68112721G>A uc003xxo.1 - 38 5685 c.5295C>T c.(5293-5295)TTC>TTT p.F1765F ARFGEF1_uc003xxl.1_Silent_p.F1219F|ARFGEF1_uc003xxm.1_Silent_p.F168F|ARFGEF1_uc003xxn.1_Silent_p.F710F|ARFGEF1_uc003xxp.1_Silent_p.F27F NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 1765 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) TTAGAGTGAGGAAGTAACTTA 0.378 NA 5 173 0 0 0.000602 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88886032 88886032 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr8:88886032C>G uc003ydz.2 - 1 265 c.168G>C c.(166-168)AGG>AGC p.R56S NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 56 ovary(1) 1 GGACCTTTTTCCTCTGCATGC 0.502 NA 45 110 0 0 0.010771 0 0 KIAA1429 25962 broad.mit.edu 37 8 95521993 95521993 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr8:95521993G>A uc003ygo.1 - 15 3815 c.3802C>T c.(3802-3804)CGG>TGG p.R1268W KIAA1429_uc010maz.1_RNA NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 1268 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) CCAGGAGACCGCACCAAAGCT 0.353 NA 5 97 0 0 0.000602 0 0 KCNS2 3788 broad.mit.edu 37 8 99440859 99440859 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr8:99440859C>A uc003yin.2 + 2 1002 c.652C>A c.(652-654)CAG>AAG p.Q218K NM_020697 NP_065748 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, 218 Extracellular (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) CCCTGACAGCCAGGGCAACCC 0.572 Pancreas(138;844 2489 9202 24627) NA 52 99 1.10885e-35 1.37451e-35 0.01441 1 0 RGS22 26166 broad.mit.edu 37 8 101105679 101105679 + Missense_Mutation SNP A A C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr8:101105679A>C uc003yjb.1 - 3 308 c.113T>G c.(112-114)CTT>CGT p.L38R RGS22_uc003yja.1_5'UTR|RGS22_uc003yjc.1_Missense_Mutation_p.L38R|RGS22_uc010mbo.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 38 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) ACTCACTGGAAGGCTTAGGAA 0.279 NA 14 30 0 0 0.004007 0 0 SNX31 169166 broad.mit.edu 37 8 101608886 101608886 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr8:101608886C>G uc003yjr.2 - 10 1110 c.959G>C c.(958-960)TGC>TCC p.C320S SNX31_uc011lha.1_Missense_Mutation_p.C115S|SNX31_uc011lhb.1_Missense_Mutation_p.C221S NM_152628 NP_689841 Q8N9S9 SNX31_HUMAN sorting nexin 31 320 cell communication|protein transport phosphatidylinositol binding 0 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) GACCTGCCAGCACTTCACCCT 0.493 NA 56 87 0 0 0.01441 0 0 ZNF16 7564 broad.mit.edu 37 8 146156370 146156370 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr8:146156370G>A uc003zet.2 - 4 1990 c.1803C>T c.(1801-1803)TAC>TAT p.Y601Y ZNF16_uc003zeu.2_Silent_p.Y601Y NM_001029976 NP_001025147 P17020 ZNF16_HUMAN zinc finger protein 16 601 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) CAACACAGGTGTAGGGTTTTT 0.498 NA 34 82 0 0 0.00623 0 0 PTPRD 5789 broad.mit.edu 37 9 8465635 8465635 + Missense_Mutation SNP T T A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr9:8465635T>A uc003zkk.2 - 31 4256 c.3545A>T c.(3544-3546)TAT>TTT p.Y1182F PTPRD_uc003zkp.2_Missense_Mutation_p.Y771F|PTPRD_uc003zkq.2_Missense_Mutation_p.Y771F|PTPRD_uc003zkr.2_Missense_Mutation_p.Y766F|PTPRD_uc003zks.2_Missense_Mutation_p.Y761F|PTPRD_uc003zkl.2_Missense_Mutation_p.Y1173F|PTPRD_uc003zkm.2_Missense_Mutation_p.Y1169F|PTPRD_uc003zkn.2_Missense_Mutation_p.Y771F|PTPRD_uc003zko.2_Missense_Mutation_p.Y768F NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1182 Extracellular (Potential). Cleavage (Probable). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TTCTCTCCCATAACGGATGCT 0.408 NA TSP Lung(15;0.13) 12 38 0 0 0.00245 0 0 NUDT2 318 broad.mit.edu 37 9 34339067 34339067 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr9:34339067C>G uc003zub.2 + 4 388 c.30C>G c.(28-30)ATC>ATG p.I10M NUDT2_uc003zuc.2_Missense_Mutation_p.I10M|NUDT2_uc003zud.2_Missense_Mutation_p.I10M NM_001161 NP_001152 P50583 AP4A_HUMAN nudix-type motif 2 10 Nudix hydrolase. induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding 0 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) GCTTGATCATCTTCCGAAGAT 0.428 Melanoma(95;1683 1957 4276 39813) NA 27 145 0 0 0.00632 0 0 TESK1 7016 broad.mit.edu 37 9 35607349 35607349 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr9:35607349G>C uc003zxa.2 + 5 899 c.563G>C c.(562-564)CGA>CCA p.R188P TESK1_uc003zwz.1_Intron|TESK1_uc010mks.2_Intron NM_006285 NP_006276 Q15569 TESK1_HUMAN testis-specific protein kinase 1 188 Protein kinase. cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1) 7 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CGGGAAGATCGAGGCTTCACC 0.537 NA 9 162 0 0 0.004482 0 0 SHC3 53358 broad.mit.edu 37 9 91660680 91660680 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr9:91660680C>A uc004aqg.2 - 9 1489 c.1182G>T c.(1180-1182)CAG>CAT p.Q394H NM_016848 NP_058544 Q92529 SHC3_HUMAN src homology 2 domain-containing transforming 394 CH1. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity lung(3)|skin(1) 4 AAGGTGTTTGCTGCCAGTCTT 0.353 NA 15 79 2.32078e-09 2.56508e-09 0.003163 1 0 C9orf3 84909 broad.mit.edu 37 9 97555120 97555120 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr9:97555120G>C uc004ava.2 + 3 1173 c.1038G>C c.(1036-1038)TGG>TGC p.W346C C9orf3_uc004aux.1_Missense_Mutation_p.W346C|C9orf3_uc004auy.2_Missense_Mutation_p.W346C|C9orf3_uc004auz.1_Missense_Mutation_p.W346C NM_032823 NP_116212 Q8N6M6 AMPO_HUMAN aminopeptidase O 346 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(323;0.000275) TGGGATGCTGGACAGAAATGA 0.453 NA 26 319 0 0 0.004656 0 0 ZNF782 158431 broad.mit.edu 37 9 99581987 99581987 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr9:99581987G>A uc004awp.1 - 6 599 c.318C>T c.(316-318)TTC>TTT p.F106F ZNF782_uc011lup.1_5'UTR NM_001001662 NP_001001662 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 106 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0527) ATTTATTGGTGAATAAAACTT 0.328 NA 5 34 0 0 0.000602 0 0 ZBTB34 403341 broad.mit.edu 37 9 129642401 129642401 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr9:129642401G>C uc004bqm.3 + 2 808 c.711G>C c.(709-711)AAG>AAC p.K237N NM_001099270 NP_001092740 Q8NCN2 ZBT34_HUMAN zinc finger and BTB domain containing 34 237 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGAAAGTGAAGATGGAGAAGT 0.547 NA 10 127 0 0 0.008291 0 0 ODF2 4957 broad.mit.edu 37 9 131262373 131262373 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr9:131262373C>A uc011mbd.1 + 21 2640 c.2329C>A c.(2329-2331)CAA>AAA p.Q777K ODF2_uc004bvb.2_Missense_Mutation_p.Q753K|ODF2_uc011mbe.1_Missense_Mutation_p.Q772K|ODF2_uc004bvc.2_Missense_Mutation_p.Q753K|ODF2_uc004bvd.3_Missense_Mutation_p.Q777K|ODF2_uc004bvh.2_Missense_Mutation_p.Q183K NM_002540 NP_002531 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 isoform 1 777 Potential. cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity ovary(1) 1 GAGCCGGCTGCAAGACCTGAA 0.388 NA 29 73 0.000147802 0.000155192 0.00632 1 0 SETX 23064 broad.mit.edu 37 9 135203286 135203286 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr9:135203286G>C uc004cbk.2 - 10 3882 c.3699C>G c.(3697-3699)ATC>ATG p.I1233M SETX_uc004cbj.2_Missense_Mutation_p.I852M|SETX_uc010mzt.2_Missense_Mutation_p.I852M NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 1233 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) GAACTTTCCTGATGGGTTCTG 0.388 NA 8 144 0 0 0.008291 0 0 UBAC1 10422 broad.mit.edu 37 9 138837002 138837002 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr9:138837002C>T uc004cgt.2 - 7 966 c.748G>A c.(748-750)GAG>AAG p.E250K UBAC1_uc004cgs.1_Missense_Mutation_p.E250K|UBAC1_uc004cgu.2_RNA NM_016172 NP_057256 Q9BSL1 UBAC1_HUMAN ubiquitin associated domain containing 1 250 Golgi apparatus|plasma membrane protein binding skin(2) 2 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06) GTGGCCCCCTCGGCCTCTGGG 0.627 NSCLC(78;973 1398 27381 29552 42415) NA 4 58 0 0 0.000602 0 0 CD99 4267 broad.mit.edu 37 X 2640679 2640679 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chrX:2640679G>T uc004cqm.2 + 6 448 c.274G>T c.(274-276)GAT>TAT p.D92Y CD99_uc010nda.2_Missense_Mutation_p.D76Y|CD99_uc004cqn.2_RNA|CD99_uc004cqo.2_Missense_Mutation_p.D92Y NM_002414 NP_002405 P14209 CD99_HUMAN CD99 antigen isoform a precursor 92 Extracellular (Potential). cell adhesion cytoplasm|integral to plasma membrane skin(1) 1 TAGCTTTTCAGATGCTGACCT 0.438 NA 70 83 9.25274e-37 1.15095e-36 0.01441 1 0 DMD 1756 broad.mit.edu 37 X 32563307 32563307 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chrX:32563307G>T uc004dda.1 - 17 2381 c.2137C>A c.(2137-2139)CAG>AAG p.Q713K DMD_uc004dcz.2_Missense_Mutation_p.Q590K|DMD_uc004dcy.1_Missense_Mutation_p.Q709K|DMD_uc004ddb.1_Missense_Mutation_p.Q705K|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.Q705K NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 713 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) ACAGTAATCTGCCTCTTCTTT 0.423 NA 12 16 3.27435e-08 3.54225e-08 0.00245 1 0 PJA1 64219 broad.mit.edu 37 X 68382049 68382049 + Missense_Mutation SNP T T G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chrX:68382049T>G uc004dxh.2 - 2 1319 c.1033A>C c.(1033-1035)ATG>CTG p.M345L PJA1_uc011mpi.1_Missense_Mutation_p.M63L|PJA1_uc004dxg.2_Missense_Mutation_p.M157L|PJA1_uc004dxi.2_Missense_Mutation_p.M290L NM_145119 NP_660095 Q8NG27 PJA1_HUMAN praja 1 isoform a 345 zinc ion binding 0 GGGTCGGCCATGGTGCGTCGT 0.527 NA 20 32 0 0 0.012319 0 0 CDX4 1046 broad.mit.edu 37 X 72667133 72667133 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chrX:72667133C>A uc011mqk.1 + 1 44 c.44C>A c.(43-45)CCG>CAG p.P15Q NM_005193 NP_005184 O14627 CDX4_HUMAN caudal type homeobox 4 15 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Renal(35;0.156) GGCATGTACCCGGGCACTCTC 0.622 NA 13 30 1.5842e-08 1.72427e-08 0.001855 1 0 GPRASP1 9737 broad.mit.edu 37 X 101909099 101909099 + Silent SNP A A C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chrX:101909099A>C uc004ejj.3 + 5 1059 c.258A>C c.(256-258)TCA>TCC p.S86S GPRASP1_uc004eji.3_Silent_p.S86S|GPRASP1_uc010nod.2_Silent_p.S86S NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 86 cytoplasm protein binding ovary(1)|lung(1) 2 TACCTGTTTCACGATTTAAGG 0.493 NA 13 200 0 0 0.001855 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125298632 125298632 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chrX:125298632C>T uc004euk.1 - 1 1303 c.1276G>A c.(1276-1278)GAG>AAG p.E426K NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 426 lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 TTGGGGAACTCTCCCATGCCA 0.612 NA 7 172 0 0 0.001984 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685831 125685831 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chrX:125685831G>T uc004eul.2 - 1 1012 c.761C>A c.(760-762)CCC>CAC p.P254H NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 254 skin(3)|ovary(1) 4 GATGGCCCTGGGGATGGCCTC 0.632 NA 11 36 6.42651e-13 7.37706e-13 0.010729 1 0 GPR112 139378 broad.mit.edu 37 X 135433623 135433623 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chrX:135433623G>C uc004ezu.1 + 7 7036 c.6745G>C c.(6745-6747)GAA>CAA p.E2249Q GPR112_uc010nsb.1_Missense_Mutation_p.E2044Q|GPR112_uc010nsc.1_Intron NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 2249 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) CTACAATGTTGAAATGAGCTT 0.294 NA 3 21 0 0 0.004672 0 0 MAGEA8 4107 broad.mit.edu 37 X 149013194 149013194 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chrX:149013194C>A uc004fdw.1 + 3 363 c.148C>A c.(148-150)CTT>ATT p.L50I NM_005364 NP_005355 P43361 MAGA8_HUMAN melanoma antigen family A, 8 50 0 Acute lymphoblastic leukemia(192;6.56e-05) CATGGGAACCCTTGAGGAGGT 0.577 NA 16 11 5.35267e-07 5.75573e-07 0.007413 1 0 HECTD2 143279 broad.mit.edu 37 10 93238018 93238018 + Frame_Shift_Del DEL A A - TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr10:93238018delA uc001khl.2 + 6 761 c.661delA c.(661-663)AAAfs p.K221fs LOC100188947_uc010qnl.1_Intron|HECTD2_uc010qnm.1_Frame_Shift_Del_p.K221fs|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_5'UTR NM_182765 NP_877497 Q5U5R9 HECD2_HUMAN HECT domain containing 2 isoform a 221 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity skin(1) 1 ACGAGAATGGAAAGGGTAAAC 0.323 NSCLC(12;376 469 1699 39910 41417) NA 14 61 --- --- --- --- NA NA NA NA NA CKAP5 9793 broad.mit.edu 37 11 46799028 46799029 + Frame_Shift_Ins INS - - T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:46799028_46799029insT uc001ndi.1 - 23 2932_2933 c.2822_2823insA c.(2821-2823)AATfs p.N941fs CKAP5_uc009ylg.1_Frame_Shift_Ins_p.N827fs|CKAP5_uc001ndj.1_Frame_Shift_Ins_p.N941fs NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN colonic and hepatic tumor over-expressed protein 941 HEAT 6. cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding|protein binding ovary(1)|skin(1) 2 GGATGCCTAAATTTTTTACATG 0.431 Ovarian(4;85 273 2202 4844 13323) NA 22 53 --- --- --- --- NA NA NA NA NA OR4K15 81127 broad.mit.edu 37 14 20444056 20444057 + Frame_Shift_Ins INS - - C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:20444056_20444057insC uc010tkx.1 + 1 379_380 c.379_380insC c.(379-381)TTTfs p.F127fs NM_001005486 NP_001005486 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, 127 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) CCAGATTTTCTTTGTTCATCTC 0.446 NA 45 167 --- --- --- --- NA NA NA NA NA OR4E2 26686 broad.mit.edu 37 14 22134212 22134213 + Frame_Shift_Ins INS - - T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:22134212_22134213insT uc010tmd.1 + 1 916_917 c.916_917insT c.(916-918)GTTfs p.V306fs NM_001001912 NP_001001912 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, 306 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) GCAGAGACAAGTTTTTTTCACG 0.406 NA 8 58 --- --- --- --- NA NA NA NA NA GAS2L2 246176 broad.mit.edu 37 17 34077194 34077197 + Frame_Shift_Del DEL CCTC CCTC - TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 CCTC CCTC - - CCTC CCTC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:34077194_34077197delCCTC uc002hjv.1 - 2 554_557 c.526_529delGAGG c.(526-531)GAGGAGfs p.E176fs NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 176_177 cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CGCACCTCCTCCTCGATCTCCTCC 0.711 NA 57 233 --- --- --- --- NA NA NA NA NA ANK2 287 broad.mit.edu 37 4 114278661 114278661 + Frame_Shift_Del DEL A A - TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:114278661delA uc003ibe.3 + 38 8987 c.8887delA c.(8887-8889)ACCfs p.T2963fs ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Frame_Shift_Del_p.T265fs|ANK2_uc011cgb.1_Frame_Shift_Del_p.T2978fs NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2930 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) GTATTCTGTTACCATCACATC 0.398 NA 39 251 --- --- --- --- NA NA NA NA NA PHTF2 57157 broad.mit.edu 37 7 77538221 77538221 + Frame_Shift_Del DEL T T - TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:77538221delT uc003ugs.3 + 7 683 c.557delT c.(556-558)ATTfs p.I186fs PHTF2_uc003ugo.3_Frame_Shift_Del_p.I148fs|PHTF2_uc003ugp.2_Frame_Shift_Del_p.I148fs|PHTF2_uc003ugq.3_Frame_Shift_Del_p.I148fs|PHTF2_uc010ldv.2_Frame_Shift_Del_p.I148fs|PHTF2_uc003ugr.3_Frame_Shift_Del_p.I152fs|PHTF2_uc003ugt.3_Frame_Shift_Del_p.I152fs|PHTF2_uc003ugu.3_Frame_Shift_Del_p.I148fs|PHTF2_uc003ugv.2_Frame_Shift_Del_p.I11fs|PHTF2_uc010ldw.1_Frame_Shift_Del_p.I11fs NM_001127357 NP_001120829 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 186 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding ovary(1) 1 CATTGCCAGATTGTTTCCACA 0.423 NA 53 70 --- --- --- --- NA NA NA NA NA PRKDC 5591 broad.mit.edu 37 8 48744402 48744402 + Frame_Shift_Del DEL T T - TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr8:48744402delT uc003xqi.2 - 61 8295 c.8238delA c.(8236-8238)AAAfs p.K2746fs PRKDC_uc003xqj.2_Frame_Shift_Del_p.K2746fs|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 2746 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CAGCAACGCCTTTTCTGGCAT 0.507 Esophageal Squamous(79;1091 1253 12329 31680 40677) NA NHEJ 7 704 --- --- --- --- NA NA NA NA NA TBX22 50945 broad.mit.edu 37 X 79283520 79283520 + Frame_Shift_Del DEL C C - TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chrX:79283520delC uc010nmg.1 + 8 1028 c.894delC c.(892-894)TACfs p.Y298fs TBX22_uc004edi.1_Frame_Shift_Del_p.Y178fs|TBX22_uc004edj.1_Frame_Shift_Del_p.Y298fs NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 298 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 TAGAGACCTACCCATGGAGGC 0.353 NA 35 63 --- --- --- --- NA NA NA NA NA ARMCX3 51566 broad.mit.edu 37 X 100880152 100880154 + In_Frame_Del DEL TGA TGA - TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 TGA TGA - - TGA TGA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chrX:100880152_100880154delTGA uc004ehz.1 + 5 716_718 c.183_185delTGA c.(181-186)TCTGAT>TCT p.D66del ARMCX3_uc004eia.1_In_Frame_Del_p.D66del|ARMCX3_uc004eib.1_In_Frame_Del_p.D66del|ARMCX3_uc004eic.1_In_Frame_Del_p.D66del NM_016607 NP_057691 Q9UH62 ARMX3_HUMAN armadillo repeat containing, X-linked 3 66 integral to membrane binding ovary(1)|lung(1) 2 ATGACTGGTCTGATGATGATGAT 0.448 NA 7 198 --- --- --- --- NA NA NA NA NA