Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values FBLIM1 54751 broad.mit.edu 37 1 16097029 16097029 + Missense_Mutation SNP T T A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr1:16097029T>A uc001axd.1 + 7 1110 c.667T>A c.(667-669)TTC>ATC p.F223I FBLIM1_uc001axe.1_Missense_Mutation_p.F223I|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Missense_Mutation_p.F223I|FBLIM1_uc001axh.1_Missense_Mutation_p.F126I|FBLIM1_uc001axi.1_Missense_Mutation_p.F126I NM_017556 NP_060026 Q8WUP2 FBLI1_HUMAN filamin-binding LIM protein-1 isoform a 223 LIM zinc-binding 1. cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle zinc ion binding skin(1) 1 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138) TGGGCAGAGCTTCTACCAGAA 0.537 SLC6A9 6536 broad.mit.edu 37 1 44476517 44476517 + Missense_Mutation SNP T T C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr1:44476517T>C uc001cll.2 - 3 479 c.287A>G c.(286-288)CAG>CGG p.Q96R SLC6A9_uc009vxe.2_5'UTR|SLC6A9_uc010okm.1_Missense_Mutation_p.Q23R|SLC6A9_uc001clm.2_Missense_Mutation_p.Q42R|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.Q42R|SLC6A9_uc001cln.2_Missense_Mutation_p.Q23R|SLC6A9_uc010oko.1_Intron|SLC6A9_uc010okp.1_Intron NM_201649 NP_964012 P48067 SC6A9_HUMAN solute carrier family 6 member 9 isoform 2 96 Cytoplasmic (Potential). integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity 0 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) TTTGAGGTTCTGGTCCCTCTT 0.597 CD101 9398 broad.mit.edu 37 1 117564313 117564313 + Missense_Mutation SNP T T G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr1:117564313T>G uc010oxb.1 + 7 2194 c.2136T>G c.(2134-2136)ATT>ATG p.I712M CD101_uc009whd.2_Missense_Mutation_p.I712M|CD101_uc010oxc.1_Missense_Mutation_p.I712M|CD101_uc010oxd.1_Missense_Mutation_p.I650M NM_004258 NP_004249 Q93033 IGSF2_HUMAN immunoglobulin superfamily, member 2 precursor 712 Ig-like C2-type 6.|Extracellular (Potential). cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 TAGCCATTATTTGGTATTTTT 0.428 TTF2 8458 broad.mit.edu 37 1 117641498 117641498 + Missense_Mutation SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr1:117641498G>A uc001egy.2 + 22 3333 c.3313G>A c.(3313-3315)GTA>ATA p.V1105I NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase 1105 Helicase C-terminal. mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding ovary(1) 1 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) AATTTACCGAGTAGGGCAGCA 0.403 ADAR 103 broad.mit.edu 37 1 154574725 154574725 + Silent SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr1:154574725C>T uc001ffh.2 - 2 593 c.393G>A c.(391-393)CAG>CAA p.Q131Q ADAR_uc001ffj.2_Silent_p.Q131Q|ADAR_uc001ffi.2_Silent_p.Q131Q|ADAR_uc001ffk.2_5'UTR|ADAR_uc001ffl.1_5'UTR|ADAR_uc001ffm.1_Intron|ADAR_uc001ffn.1_Intron NM_001111 NP_001102 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific isoform a 131 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) TACTCAGTTCCTGGAAATGTG 0.512 NES 10763 broad.mit.edu 37 1 156640925 156640925 + Missense_Mutation SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr1:156640925G>A uc001fpq.2 - 4 3188 c.3055C>T c.(3055-3057)CCC>TCC p.P1019S NM_006617 NP_006608 P48681 NEST_HUMAN nestin 1019 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGCTCTTTGGGCTCAGGGCTC 0.642 FCRLA 84824 broad.mit.edu 37 1 161681106 161681106 + Missense_Mutation SNP G G A rs145034072 TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr1:161681106G>A uc001gbe.2 + 4 652 c.410G>A c.(409-411)CGA>CAA p.R137Q FCRLA_uc001gbd.2_Missense_Mutation_p.R131Q|FCRLA_uc001gbf.2_Intron|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron NM_032738 NP_116127 Q7L513 FCRLA_HUMAN Fc receptor-like and mucin-like 1 114 Ig-like C2-type 1. cell differentiation cytoplasm|extracellular region 0 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) ACCTTCTACCGAGATGGCTCA 0.592 CACNA1E 777 broad.mit.edu 37 1 181724521 181724521 + Missense_Mutation SNP A A G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr1:181724521A>G uc001gow.2 + 28 4142 c.3977A>G c.(3976-3978)GAG>GGG p.E1326G CACNA1E_uc009wxs.2_Missense_Mutation_p.E1214G|CACNA1E_uc001gox.1_Missense_Mutation_p.E552G|CACNA1E_uc009wxt.2_Missense_Mutation_p.E552G NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1326 Extracellular (Potential).|III. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 AAGGACACAGAGAAGGAGTGC 0.488 HMCN1 83872 broad.mit.edu 37 1 186057323 186057323 + Silent SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr1:186057323G>A uc001grq.1 + 62 9721 c.9492G>A c.(9490-9492)ACG>ACA p.T3164T NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3164 Ig-like C2-type 30. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TTGTGGAGACGATCAGCAATC 0.398 EPRS 2058 broad.mit.edu 37 1 220206907 220206907 + Missense_Mutation SNP T T C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr1:220206907T>C uc001hly.1 - 4 595 c.325A>G c.(325-327)AGA>GGA p.R109G EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Missense_Mutation_p.R109G|EPRS_uc009xdt.1_5'UTR NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 109 glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) AAGTATGTTCTCAGAGACAGG 0.348 TARBP1 6894 broad.mit.edu 37 1 234564922 234564922 + Missense_Mutation SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr1:234564922G>A uc001hwd.2 - 17 3020 c.3020C>T c.(3019-3021)GCT>GTT p.A1007V NM_005646 NP_005637 Q13395 TARB1_HUMAN TAR RNA binding protein 1 1007 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity ovary(2)|skin(1) 3 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) GATTTTGGCAGCAATGGTAAG 0.333 OR2AK2 391191 broad.mit.edu 37 1 248128933 248128933 + Silent SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr1:248128933C>T uc010pzd.1 + 1 300 c.300C>T c.(298-300)TTC>TTT p.F100F OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 100 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CAGTCAGCTTCCTCTCACAGA 0.478 RET 5979 broad.mit.edu 37 10 43622117 43622117 + Missense_Mutation SNP A A G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr10:43622117A>G uc001jal.2 + 19 3324 c.3134A>G c.(3133-3135)AAT>AGT p.N1045S RET_uc001jak.1_Missense_Mutation_p.N1045S|RET_uc010qez.1_Missense_Mutation_p.N791S NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 1045 Cytoplasmic (Potential). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) GACTGTAATAATGCCCCCCTC 0.522 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma UNC5B 219699 broad.mit.edu 37 10 73053609 73053609 + Silent SNP C C G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr10:73053609C>G uc001jro.2 + 13 2539 c.2094C>G c.(2092-2094)GCC>GCG p.A698A UNC5B_uc001jrp.2_Silent_p.A687A NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B precursor 698 Cytoplasmic (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane ovary(2)|lung(1) 3 TCCAGCTGGCCGTCTTCGCCC 0.657 ZNF195 7748 broad.mit.edu 37 11 3381526 3381526 + Missense_Mutation SNP T T A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr11:3381526T>A uc001lxt.2 - 6 890 c.712A>T c.(712-714)AAT>TAT p.N238Y uc001lxr.2_5'Flank|ZNF195_uc001lxv.2_Missense_Mutation_p.N215Y|ZNF195_uc001lxs.2_Missense_Mutation_p.N166Y|ZNF195_uc010qxr.1_Missense_Mutation_p.N219Y|ZNF195_uc009ydz.2_Missense_Mutation_p.N193Y|ZNF195_uc001lxu.2_Missense_Mutation_p.N170Y NM_001130520 NP_001123992 O14628 ZN195_HUMAN zinc finger protein 195 isoform 1 238 Spacer. 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) TCTCCAGTATTACTTATATTA 0.284 CNGA4 1262 broad.mit.edu 37 11 6265554 6265554 + Missense_Mutation SNP C C G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr11:6265554C>G uc001mco.2 + 6 1750 c.1643C>G c.(1642-1644)GCT>GGT p.A548G CNGA4_uc010raa.1_3'UTR|CNGA4_uc001mcn.2_3'UTR NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 548 Cytoplasmic (Potential). response to stimulus|sensory perception of smell cAMP binding skin(1) 1 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGGCTGAGGCTGATGACGAG 0.617 PLEKHA7 144100 broad.mit.edu 37 11 16812631 16812631 + Missense_Mutation SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr11:16812631C>T uc001mmo.2 - 20 2876 c.2861G>A c.(2860-2862)CGG>CAG p.R954Q PLEKHA7_uc010rcu.1_Missense_Mutation_p.R955Q|PLEKHA7_uc001mmm.2_Missense_Mutation_p.R57Q|PLEKHA7_uc010rcv.1_Missense_Mutation_p.R529Q|PLEKHA7_uc001mmn.2_Missense_Mutation_p.R663Q NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A 954 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding skin(2)|central_nervous_system(1) 3 CTTGAGGCCCCGCACAGATGT 0.682 ANO3 63982 broad.mit.edu 37 11 26677708 26677708 + Missense_Mutation SNP C C A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr11:26677708C>A uc001mqt.3 + 25 2758 c.2613C>A c.(2611-2613)TTC>TTA p.F871L ANO3_uc010rdr.1_Missense_Mutation_p.F855L|ANO3_uc010rds.1_Missense_Mutation_p.F710L|ANO3_uc010rdt.1_Missense_Mutation_p.F725L NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 871 Extracellular (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GCCTATCCTTCTTTGACCTGA 0.373 OR4B1 119765 broad.mit.edu 37 11 48238439 48238439 + Silent SNP T T C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr11:48238439T>C uc010rhs.1 + 1 78 c.78T>C c.(76-78)TTT>TTC p.F26F NM_001005470 NP_001005470 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, 26 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|pancreas(1) 4 GTGTATGCTTTGTGGTGTTTC 0.498 OR4A16 81327 broad.mit.edu 37 11 55110764 55110764 + Missense_Mutation SNP T T G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr11:55110764T>G uc010rie.1 + 1 88 c.88T>G c.(88-90)TTA>GTA p.L30V NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 30 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 TGTCATGTTTTTACTCATATA 0.423 OR10AG1 282770 broad.mit.edu 37 11 55735801 55735801 + Missense_Mutation SNP G G T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr11:55735801G>T uc010rit.1 - 1 139 c.139C>A c.(139-141)CAG>AAG p.Q47K NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 47 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) ATGGGAGTCTGGAGAGCGGGG 0.343 MED19 219541 broad.mit.edu 37 11 57472643 57472643 + Silent SNP G G C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr11:57472643G>C uc001nla.1 - 2 298 c.276C>G c.(274-276)GCC>GCG p.A92A MED19_uc001nlb.2_Silent_p.A92A NM_153450 NP_703151 A0JLT2 MED19_HUMAN mediator complex subunit 19 92 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(2) 2 ATTTATTATAGGCTTGTTCCA 0.433 SIK2 23235 broad.mit.edu 37 11 111572256 111572256 + Silent SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr11:111572256G>A uc001plt.2 + 6 802 c.684G>A c.(682-684)AGG>AGA p.R228R NM_015191 NP_056006 Q9H0K1 SIK2_HUMAN SNF1-like kinase 2 228 Protein kinase. intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|skin(1) 3 TGAGGCAGAGGGTTCTGGAAG 0.418 CMAS 55907 broad.mit.edu 37 12 22208520 22208520 + Nonsense_Mutation SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr12:22208520C>T uc001rfm.2 + 3 614 c.535C>T c.(535-537)CGA>TGA p.R179* CMAS_uc001rfn.2_RNA NM_018686 NP_061156 Q8NFW8 NEUA_HUMAN cytidine monophospho-N-acetylneuraminic acid 179 lipopolysaccharide biosynthetic process nucleus N-acylneuraminate cytidylyltransferase activity ovary(1)|pancreas(1)|skin(1) 3 CCATCAGTTTCGATGGAGTGA 0.328 ITPR2 3709 broad.mit.edu 37 12 26868707 26868707 + Missense_Mutation SNP T T C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr12:26868707T>C uc001rhg.2 - 7 1103 c.686A>G c.(685-687)TAT>TGT p.Y229C NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 229 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) ATCCTCTCGATAGGAACTATA 0.353 KRT76 51350 broad.mit.edu 37 12 53170704 53170704 + Silent SNP T T C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr12:53170704T>C uc001sax.2 - 1 426 c.372A>G c.(370-372)GGA>GGG p.G124G NM_015848 NP_056932 Q01546 K22O_HUMAN keratin 76 124 Head. cytoskeleton organization keratin filament structural molecule activity breast(1)|skin(1) 2 agccaccagctccaccaaagc 0.114 KRT76 51350 broad.mit.edu 37 12 53170707 53170707 + Silent SNP A A T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr12:53170707A>T uc001sax.2 - 1 423 c.369T>A c.(367-369)GGT>GGA p.G123G NM_015848 NP_056932 Q01546 K22O_HUMAN keratin 76 123 Head. cytoskeleton organization keratin filament structural molecule activity breast(1)|skin(1) 2 caccagctccaccaaagccac 0.109 ORMDL2 29095 broad.mit.edu 37 12 56214131 56214131 + Missense_Mutation SNP G G C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr12:56214131G>C uc001shw.1 + 4 506 c.414G>C c.(412-414)AAG>AAC p.K138N SARNP_uc009zoa.2_5'Flank|SARNP_uc001shs.3_5'Flank|SARNP_uc001sht.2_5'Flank|DNAJC14_uc001shu.1_Intron|SARNP_uc001shv.3_5'Flank NM_014182 NP_054901 Q53FV1 ORML2_HUMAN ORMDL2 138 ceramide metabolic process endoplasmic reticulum membrane|integral to membrane 0 TGCTGCCGAAGTTGCCCCAGT 0.517 SYCP3 50511 broad.mit.edu 37 12 102122964 102122964 + Missense_Mutation SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr12:102122964C>T uc001tiq.2 - 8 712 c.580G>A c.(580-582)GAT>AAT p.D194N CHPT1_uc001tip.1_3'UTR|SYCP3_uc001tir.2_Missense_Mutation_p.D194N|SYCP3_uc001tis.2_Missense_Mutation_p.D194N NM_153694 NP_710161 Q8IZU3 SYCP3_HUMAN synaptonemal complex protein 3 194 Potential.|Gln-rich. cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins nucleus DNA binding 0 AGTAGATTATCATGATTCTTC 0.294 OAS3 4940 broad.mit.edu 37 12 113388664 113388664 + Missense_Mutation SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr12:113388664G>A uc001tug.2 + 7 1628 c.1541G>A c.(1540-1542)AGC>AAC p.S514N NM_006187 NP_006178 Q9Y6K5 OAS3_HUMAN 2'-5'oligoadenylate synthetase 3 514 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding central_nervous_system(1) 1 CAGGTGCCCAGCCTGAGCCTT 0.602 KNTC1 9735 broad.mit.edu 37 12 123068996 123068996 + Silent SNP A A C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr12:123068996A>C uc001ucv.2 + 35 3598 c.3435A>C c.(3433-3435)CCA>CCC p.P1145P KNTC1_uc010taf.1_Intron NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 1145 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) TTTGCAGTCCAGGTGACAATA 0.413 GPC6 10082 broad.mit.edu 37 13 95050872 95050872 + Missense_Mutation SNP A A T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr13:95050872A>T uc001vlt.2 + 8 2074 c.1442A>T c.(1441-1443)AAT>ATT p.N481I NM_005708 NP_005699 Q9Y625 GPC6_HUMAN glypican 6 precursor 481 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) TACAATGGCAATGATGTCAAT 0.418 TC2N 123036 broad.mit.edu 37 14 92264149 92264149 + Missense_Mutation SNP A A C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr14:92264149A>C uc001xzu.3 - 8 1026 c.835T>G c.(835-837)TCA>GCA p.S279A TC2N_uc001xzt.3_Missense_Mutation_p.S279A|TC2N_uc010auc.2_Missense_Mutation_p.S279A|TC2N_uc001xzv.3_Missense_Mutation_p.S279A NM_001128595 NP_001122067 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 279 nucleus upper_aerodigestive_tract(1) 1 COAD - Colon adenocarcinoma(157;0.218) TCCTTGGCTGAAGATTTGAAA 0.348 KIAA0284 283638 broad.mit.edu 37 14 105353627 105353627 + Silent SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr14:105353627G>A uc010axb.2 + 12 3275 c.3051G>A c.(3049-3051)CCG>CCA p.P1017P INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.P947P|KIAA0284_uc001yps.2_Silent_p.P923P|KIAA0284_uc001ypt.2_5'Flank NM_001112726 NP_001106197 Q9Y4F5 K0284_HUMAN hypothetical protein LOC283638 isoform 1 1017 cytoplasm|microtubule breast(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.178) CACTTGGCCCGACGGACATGG 0.692 FBN1 2200 broad.mit.edu 37 15 48779557 48779557 + Missense_Mutation SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr15:48779557C>T uc001zwx.1 - 28 3743 c.3415G>A c.(3415-3417)GAA>AAA p.E1139K NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 1139 EGF-like 17; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GGCGGGCATTCACAGCGGTAA 0.483 MYO5A 4644 broad.mit.edu 37 15 52664321 52664321 + Silent SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr15:52664321C>T uc002aby.2 - 21 3061 c.2817G>A c.(2815-2817)CAG>CAA p.Q939Q MYO5A_uc002abx.3_Silent_p.Q939Q|MYO5A_uc010uge.1_Silent_p.Q808Q NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA isoform 1 939 Potential. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|central_nervous_system(1) 4 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) TGAAACACACCTGCTCATCAA 0.463 CIB1 10519 broad.mit.edu 37 15 90775542 90775542 + Missense_Mutation SNP C C A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr15:90775542C>A uc002bpb.3 - 3 266 c.104G>T c.(103-105)TGT>TTT p.C35F C15orf58_uc002bpc.2_5'Flank NM_006384 NP_006375 Q99828 CIB1_HUMAN calcium and integrin binding 1 35 apoptosis|cell adhesion|double-strand break repair apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm calcium ion binding|protein binding 0 Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303) BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) AAGCAGCTCACAAAACCGCCT 0.587 LRRK1 79705 broad.mit.edu 37 15 101566255 101566255 + Missense_Mutation SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr15:101566255C>T uc002bwr.2 + 17 2637 c.2318C>T c.(2317-2319)ACG>ATG p.T773M LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 773 Roc. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AGGATTGCAACGCTGCGTGCC 0.597 USP7 7874 broad.mit.edu 37 16 8998312 8998312 + Missense_Mutation SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr16:8998312G>A uc002czl.2 - 15 1883 c.1684C>T c.(1684-1686)CAT>TAT p.H562Y USP7_uc010uyk.1_Missense_Mutation_p.H463Y|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.H463Y|USP7_uc002czk.2_Missense_Mutation_p.H546Y|USP7_uc010uyl.1_RNA NM_003470 NP_003461 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 562 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3) 3 ATATAGAGATGGGCTTCCTGC 0.582 MYLPF 29895 broad.mit.edu 37 16 30387532 30387532 + Missense_Mutation SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr16:30387532G>A uc002dxv.1 + 3 219 c.163G>A c.(163-165)GCA>ACA p.A55T NM_013292 NP_037424 Q96A32 MLRS_HUMAN myosin light chain, phosphorylatable, fast 55 EF-hand 1. skeletal muscle tissue development muscle myosin complex calcium ion binding|structural constituent of muscle 0 Colorectal(24;0.193) GGACACCTTCGCAGCCATGGG 0.478 CDH8 1006 broad.mit.edu 37 16 61851482 61851483 + Missense_Mutation DNP GA GA AG TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr16:61851482_61851483GA>AG uc002eog.1 - 7 1429_1430 c.1177_1178TC>CT c.(1177-1179)TCA>CTA p.S393L CDH8_uc002eoh.2_Missense_Mutation_p.S162L NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 393 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GTAAGTCGGTGAAGAGAAGACC 0.495 NUDT7 283927 broad.mit.edu 37 16 77775522 77775522 + Missense_Mutation SNP A A T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr16:77775522A>T uc010chd.2 + 4 461 c.392A>T c.(391-393)AAC>ATC p.N131I NUDT7_uc010vnj.1_Missense_Mutation_p.N78I NM_001105663 NP_001099133 P0C024 NUDT7_HUMAN nudix motif 7 131 Nudix hydrolase. nucleoside diphosphate metabolic process peroxisome hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding ovary(1)|kidney(1) 2 ATAGACCACAACTTCCAGGCC 0.428 PRPF8 10594 broad.mit.edu 37 17 1579329 1579329 + Nonsense_Mutation SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr17:1579329G>A uc002fte.2 - 18 2686 c.2572C>T c.(2572-2574)CAG>TAG p.Q858* NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 858 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) CTCTGAGACTGGTTCAACCGA 0.532 TP53 7157 broad.mit.edu 37 17 7577548 7577548 + Missense_Mutation SNP C C T rs28934575 TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr17:7577548C>T uc002gim.2 - 7 927 c.733G>A c.(733-735)GGC>AGC p.G245S TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.2_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 245 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGGTTCATGCCGCCCATGCAG 0.577 G245S(SKLMS1_SOFT_TISSUE)|G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKMEL2_SKIN) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) EVI2B 2124 broad.mit.edu 37 17 29631855 29631855 + Missense_Mutation SNP C C G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr17:29631855C>G uc002hgk.2 - 2 928 c.773G>C c.(772-774)AGA>ACA p.R258T NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Missense_Mutation_p.R273T NM_006495 NP_006486 P34910 EVI2B_HUMAN ecotropic viral integration site 2B precursor 258 Cytoplasmic (Potential). cytoplasm|integral to plasma membrane ovary(2) 2 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184) TTCATTTTCTCTGATGTTATC 0.363 MED24 9862 broad.mit.edu 37 17 38185183 38185183 + Silent SNP C C A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr17:38185183C>A uc002htt.2 - 14 1618 c.1305G>T c.(1303-1305)CTG>CTT p.L435L MED24_uc010wes.1_Silent_p.L295L|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Silent_p.L460L|MED24_uc002htu.2_Silent_p.L422L|MED24_uc010cwn.2_Silent_p.L422L|MED24_uc010weu.1_Silent_p.L345L|MED24_uc010wev.1_Silent_p.L385L|MED24_uc010wew.1_Silent_p.L376L|MED24_uc010wex.1_Silent_p.L140L NM_014815 NP_055630 O75448 MED24_HUMAN mediator complex subunit 24 isoform 1 435 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 Colorectal(19;0.000442) GGACTCCCAGCAGTCCCTCCG 0.582 METTL2A 339175 broad.mit.edu 37 17 60525117 60525117 + Missense_Mutation SNP C C G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr17:60525117C>G uc002izv.2 + 8 990 c.972C>G c.(970-972)TTC>TTG p.F324L METTL2A_uc002izw.2_Missense_Mutation_p.F188L NM_181725 NP_859076 Q96IZ6 MTL2A_HUMAN methyltransferase like 2A 324 methyltransferase activity 0 BRCA - Breast invasive adenocarcinoma(2;1.08e-10) GAGTTTACTTCTTCACACAAG 0.418 NPLOC4 55666 broad.mit.edu 37 17 79573783 79573783 + Silent SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr17:79573783C>T uc002kat.3 - 7 770 c.588G>A c.(586-588)GGG>GGA p.G196G NPLOC4_uc002kau.3_Silent_p.G196G|NPLOC4_uc010wur.1_Silent_p.G35G NM_017921 NP_060391 Q8TAT6 NPL4_HUMAN nuclear protein localization 4 196 cellular membrane fusion|ER-associated protein catabolic process|Golgi organization cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) ACGGGAGGTGCCCCTCGCACC 0.502 MUC16 94025 broad.mit.edu 37 19 9066002 9066002 + Silent SNP T T C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr19:9066002T>C uc002mkp.2 - 3 21648 c.21444A>G c.(21442-21444)GTA>GTG p.V7148V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7150 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTGAACTGGTTACAAGTTCTG 0.498 TSHZ3 57616 broad.mit.edu 37 19 31767537 31767537 + Missense_Mutation SNP G G C rs145440380 byFrequency TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr19:31767537G>C uc002nsy.3 - 2 3227 c.3162C>G c.(3160-3162)CAC>CAG p.H1054Q NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 1054 C2H2-type 5. negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) GTTTAACAGCGTGCTTGCTGG 0.483 PPP1R12C 54776 broad.mit.edu 37 19 55603602 55603602 + Silent SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr19:55603602C>T uc002qix.2 - 19 2164 c.2148G>A c.(2146-2148)GAG>GAA p.E716E PPP1R12C_uc010yfs.1_Silent_p.E641E|PPP1R12C_uc002qiy.2_Silent_p.E714E NM_017607 NP_060077 Q9BZL4 PP12C_HUMAN protein phosphatase 1, regulatory subunit 12C 716 Potential. cytoplasm ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) GCGTGGCCCGCTCCAGCTCCA 0.706 NLRP13 126204 broad.mit.edu 37 19 56423693 56423693 + Missense_Mutation SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr19:56423693G>A uc010ygg.1 - 5 1515 c.1490C>T c.(1489-1491)ACG>ATG p.T497M NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 497 NACHT. ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TTTGTTAAACGTGAAGTTCAT 0.483 EIF2AK3 9451 broad.mit.edu 37 2 88883033 88883033 + Nonsense_Mutation SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr2:88883033G>A uc002stc.3 - 10 1880 c.1678C>T c.(1678-1680)CAA>TAA p.Q560* NM_004836 NP_004827 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha 560 Cytoplasmic (Potential). activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 TTTTCAGTTTGACACTGAGTT 0.338 RANBP2 5903 broad.mit.edu 37 2 109382496 109382496 + Missense_Mutation SNP G G C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr2:109382496G>C uc002tem.3 + 20 5627 c.5501G>C c.(5500-5502)GGA>GCA p.G1834A NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 1834 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 GACTCTTCTGGAAGTCAGGTG 0.413 SLC4A10 57282 broad.mit.edu 37 2 162719476 162719476 + Missense_Mutation SNP C C A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr2:162719476C>A uc002ubx.3 + 6 854 c.670C>A c.(670-672)CAG>AAG p.Q224K SLC4A10_uc010fpa.1_Missense_Mutation_p.Q236K|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.Q224K|SLC4A10_uc010zcs.1_Missense_Mutation_p.Q235K NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 224 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 GCATCATCATCAGAATCAGAA 0.418 TTN 7273 broad.mit.edu 37 2 179424095 179424095 + Nonsense_Mutation SNP C C A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr2:179424095C>A uc010zfg.1 - 275 79284 c.79060G>T c.(79060-79062)GAA>TAA p.E26354* uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.E20049*|TTN_uc010zfi.1_Nonsense_Mutation_p.E19982*|TTN_uc010zfj.1_Nonsense_Mutation_p.E19857* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 27281 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) AACTCATTTTCTCCAGAGACT 0.373 COL4A4 1286 broad.mit.edu 37 2 227917059 227917059 + Missense_Mutation SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr2:227917059G>A uc010zlt.1 - 32 3584 c.2930C>T c.(2929-2931)CCT>CTT p.P977L NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 977 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) AGGAGGTCCAGGTTCCCCAGG 0.398 TMC2 117532 broad.mit.edu 37 20 2582792 2582792 + Nonsense_Mutation SNP G G T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr20:2582792G>T uc002wgf.1 + 11 1273 c.1258G>T c.(1258-1260)GAA>TAA p.E420* TMC2_uc002wgg.1_Nonsense_Mutation_p.E404*|TMC2_uc010zpw.1_Nonsense_Mutation_p.E252*|TMC2_uc010zpx.1_Nonsense_Mutation_p.E251* NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 420 Cytoplasmic (Potential). integral to membrane ovary(3) 3 GAGTAACAAAGAAGAAAATAT 0.403 CHD6 84181 broad.mit.edu 37 20 40044276 40044276 + Missense_Mutation SNP C C G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr20:40044276C>G uc002xka.1 - 34 6667 c.6489G>C c.(6487-6489)GAG>GAC p.E2163D CHD6_uc002xjz.1_5'Flank NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2163 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) CTAAGAAGCTCTCCTGTGAAC 0.498 EDN3 1908 broad.mit.edu 37 20 57899407 57899407 + Missense_Mutation SNP A A G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr20:57899407A>G uc002yap.2 + 5 979 c.610A>G c.(610-612)AGC>GGC p.S204G EDN3_uc002yao.1_Silent_p.K188K|EDN3_uc002yaq.2_Missense_Mutation_p.S204G|EDN3_uc002yar.2_Silent_p.K215K|EDN3_uc002yas.2_Missense_Mutation_p.S190G NM_000114 NP_000105 P14138 EDN3_HUMAN endothelin 3 isoform 1 preproprotein 204 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity skin(1) 1 all_lung(29;0.0115) GGACCAACAAAGCAAGCAGGC 0.512 AGPAT3 56894 broad.mit.edu 37 21 45391318 45391318 + Silent SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr21:45391318G>A uc002zdv.2 + 7 936 c.714G>A c.(712-714)CCG>CCA p.P238P AGPAT3_uc002zdw.2_Silent_p.P238P|AGPAT3_uc002zdx.2_Silent_p.P325P|AGPAT3_uc002zdy.2_Silent_p.P176P NM_020132 NP_064517 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 238 Lumenal (Potential). phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity 0 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) ACAAGAACCCGTCCCTGCTGG 0.607 KCTD17 79734 broad.mit.edu 37 22 37455391 37455391 + Silent SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr22:37455391G>A uc010gxb.2 + 5 547 c.525G>A c.(523-525)GAG>GAA p.E175E KCTD17_uc010gxa.1_Silent_p.E175E|KCTD17_uc011amv.1_Silent_p.E182E|KCTD17_uc010gxc.2_Silent_p.E175E NM_024681 NP_078957 Q8N5Z5 KCD17_HUMAN potassium channel tetramerisation domain 182 voltage-gated potassium channel complex identical protein binding|voltage-gated potassium channel activity 0 ACGGCAGCGAGGACCAGGCAG 0.612 TRIOBP 11078 broad.mit.edu 37 22 38130970 38130970 + Missense_Mutation SNP G G C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr22:38130970G>C uc003atr.2 + 9 4898 c.4627G>C c.(4627-4629)GGA>CGA p.G1543R TRIOBP_uc003atu.2_Missense_Mutation_p.G1371R NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 1543 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) GGGGGCAGAGGGAGCGTGTCC 0.677 SCUBE1 80274 broad.mit.edu 37 22 43600117 43600117 + Silent SNP C C T rs142852064 TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr22:43600117C>T uc003bdt.1 - 22 2941 c.2853G>A c.(2851-2853)GCG>GCA p.A951A NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 951 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_neural(38;0.0414)|Ovarian(80;0.07) TCTGGGGATGCGCCAGCACGT 0.567 SCN10A 6336 broad.mit.edu 37 3 38781019 38781019 + Missense_Mutation SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr3:38781019C>T uc003ciq.2 - 14 2267 c.2267G>A c.(2266-2268)CGG>CAG p.R756Q NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 756 Helical; Voltage-sensor; Name=S4 of repeat II; (Potential).|II. sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GCGGAAGCTCCGCAGCACAGA 0.522 SCN11A 11280 broad.mit.edu 37 3 38913761 38913761 + Missense_Mutation SNP A A C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr3:38913761A>C uc011ays.1 - 20 3617 c.3418T>G c.(3418-3420)TTA>GTA p.L1140V NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 1140 Helical; Voltage-sensor; Name=S4 of repeat III; (By similarity).|III. response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AATTCCATTAAGTTAATGAGG 0.478 COL7A1 1294 broad.mit.edu 37 3 48623397 48623397 + Silent SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr3:48623397C>T uc003ctz.2 - 28 3736 c.3735G>A c.(3733-3735)GAG>GAA p.E1245E NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 1245 Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTGGGCAGGGCTCTGGCCGGG 0.557 SI 6476 broad.mit.edu 37 3 164750331 164750331 + Missense_Mutation SNP G G T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr3:164750331G>T uc003fei.2 - 24 2777 c.2715C>A c.(2713-2715)TTC>TTA p.F905L NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 905 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CATCATAAGTGAAATTGGAAT 0.323 HNSCC(35;0.089) SLC7A14 57709 broad.mit.edu 37 3 170198405 170198405 + Missense_Mutation SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr3:170198405G>A uc003fgz.2 - 7 1982 c.1666C>T c.(1666-1668)CGG>TGG p.R556W CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 556 integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) GCTGTGGGCCGGTCCATTTTG 0.488 MRPL47 57129 broad.mit.edu 37 3 179311619 179311619 + Missense_Mutation SNP A A C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr3:179311619A>C uc003fjz.2 - 5 489 c.467T>G c.(466-468)CTT>CGT p.L156R MRPL47_uc003fka.2_Missense_Mutation_p.L46R|MRPL47_uc003fkb.2_Missense_Mutation_p.L136R NM_020409 NP_065142 Q9HD33 RM47_HUMAN mitochondrial ribosomal protein L47 isoform a 156 translation mitochondrial ribosome structural constituent of ribosome 0 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) ACCAGTCTGAAGAAGCCTTAG 0.398 TP63 8626 broad.mit.edu 37 3 189607201 189607201 + Missense_Mutation SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr3:189607201C>T uc003fry.2 + 12 1669 c.1580C>T c.(1579-1581)CCC>CTC p.P527L TP63_uc003frz.2_Missense_Mutation_p.P527L|TP63_uc010hzc.1_Intron|TP63_uc003fsc.2_Missense_Mutation_p.P433L|TP63_uc003fsd.2_Missense_Mutation_p.P433L|TP63_uc010hzd.1_Missense_Mutation_p.P348L NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 527 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 12 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) GCACTCCCTCCCCCACTCTCC 0.592 Hay-Wells_syndrome HNSCC(45;0.13) FYTTD1 84248 broad.mit.edu 37 3 197501044 197501044 + Missense_Mutation SNP C C G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr3:197501044C>G uc003fyi.2 + 6 838 c.619C>G c.(619-621)CAA>GAA p.Q207E FYTTD1_uc011bui.1_Missense_Mutation_p.Q181E|FYTTD1_uc011buj.1_RNA|FYTTD1_uc011buk.1_Missense_Mutation_p.Q140E NM_032288 NP_115664 Q96QD9 UIF_HUMAN forty-two-three domain containing 1 isoform 1 207 mRNA export from nucleus nuclear speck mRNA binding|protein binding 0 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.175) GAATACAGAACAACTGCTAGA 0.403 NIPAL1 152519 broad.mit.edu 37 4 48037691 48037691 + Silent SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr4:48037691G>A uc003gxw.2 + 6 801 c.735G>A c.(733-735)TTG>TTA p.L245L NM_207330 NP_997213 Q6NVV3 NIPA3_HUMAN NIPA-like domain containing 1 245 Helical; (Potential). integral to membrane 0 TCTGTTCCTTGATTGGAGCGT 0.408 CENPE 1062 broad.mit.edu 37 4 104067005 104067005 + Missense_Mutation SNP A A G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr4:104067005A>G uc003hxb.1 - 30 4484 c.4394T>C c.(4393-4395)ATA>ACA p.I1465T CENPE_uc003hxc.1_Missense_Mutation_p.I1440T NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 1465 Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) AATTTCTTTTATGTTTTCTTT 0.318 MYOZ2 51778 broad.mit.edu 37 4 120072095 120072095 + Missense_Mutation SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr4:120072095C>T uc003icp.3 + 3 358 c.145C>T c.(145-147)CAT>TAT p.H49Y NM_016599 NP_057683 Q9NPC6 MYOZ2_HUMAN myozenin 2 49 protein phosphatase 2B binding 0 AGAATTATCCCATCTCAGTAA 0.383 MARCH1 55016 broad.mit.edu 37 4 164466760 164466760 + Missense_Mutation SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr4:164466760C>T uc003iqs.1 - 7 1536 c.559G>A c.(559-561)GGC>AGC p.G187S MARCH1_uc003iqr.1_Missense_Mutation_p.G170S NM_017923 NP_060393 Q8TCQ1 MARH1_HUMAN membrane-associated RING-CH protein I 187 antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding lung(2) 2 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TTGTCATTGCCTTGCTTGATT 0.443 RICTOR 253260 broad.mit.edu 37 5 39002671 39002671 + Missense_Mutation SNP C C A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr5:39002671C>A uc003jlp.2 - 5 382 c.358G>T c.(358-360)GTG>TTG p.V120L RICTOR_uc003jlo.2_Missense_Mutation_p.V120L|RICTOR_uc010ivf.2_5'UTR|RICTOR_uc003jlq.1_Missense_Mutation_p.V104L|RICTOR_uc011cpk.1_Missense_Mutation_p.V120L NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 120 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) AATTTTAGCACCTTCTGGAGA 0.378 PCDHA13 56136 broad.mit.edu 37 5 140263750 140263750 + Missense_Mutation SNP A A T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr5:140263750A>T uc003lif.2 + 1 1897 c.1897A>T c.(1897-1899)ACG>TCG p.T633S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.T633S|PCDHA13_uc003lid.2_Missense_Mutation_p.T633S NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 633 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGAGATCAGCACGACGCGCCC 0.677 FAT2 2196 broad.mit.edu 37 5 150947107 150947107 + Silent SNP G G T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr5:150947107G>T uc003lue.3 - 1 1399 c.1386C>A c.(1384-1386)TCC>TCA p.S462S GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Silent_p.S462S NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 462 Cadherin 4.|Extracellular (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TACCATCATAGGAAGACCTGT 0.527 HLA-G 3135 broad.mit.edu 37 6 29795915 29795915 + Silent SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr6:29795915G>A uc003nnw.2 + 3 343 c.165G>A c.(163-165)ACG>ACA p.T55T HLA-G_uc011dmb.1_Silent_p.T27T|HLA-G_uc003raj.3_Silent_p.T60T|HLA-G_uc003nnz.3_Silent_p.T55T|HLA-G_uc010jrn.2_Silent_p.T55T|HLA-G_uc003nny.3_RNA|HLA-G_uc003ran.1_5'Flank NM_002127 NP_002118 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 55 Extracellular (Potential).|Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity ovary(3)|central_nervous_system(1) 4 TGGACGACACGCAGTTCGTGC 0.701 FGD2 221472 broad.mit.edu 37 6 36978786 36978786 + Missense_Mutation SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr6:36978786C>T uc010jwp.1 + 3 509 c.338C>T c.(337-339)ACA>ATA p.T113I FGD2_uc011dtu.1_Missense_Mutation_p.T113I|FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_Intron|FGD2_uc003oni.1_5'Flank NM_173558 NP_775829 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 113 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding upper_aerodigestive_tract(1)|lung(1)|pancreas(1) 3 CTGCTGGAGACAGAGCAGGCC 0.612 SOBP 55084 broad.mit.edu 37 6 107955296 107955296 + Silent SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr6:107955296G>A uc003prx.2 + 6 1752 c.1248G>A c.(1246-1248)CCG>CCA p.P416P NM_018013 NP_060483 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog 416 Pro-rich. metal ion binding ovary(1) 1 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) GCGGGCCTCCGCACCATGCCT 0.692 SOBP 55084 broad.mit.edu 37 6 107956313 107956313 + Silent SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr6:107956313G>A uc003prx.2 + 6 2769 c.2265G>A c.(2263-2265)AAG>AAA p.K755K NM_018013 NP_060483 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog 755 Pro-rich. metal ion binding ovary(1) 1 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) CGCCCCCCAAGAAGCTGCTGT 0.607 HEY2 23493 broad.mit.edu 37 6 126080831 126080831 + Silent SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr6:126080831G>A uc003qad.2 + 5 1088 c.897G>A c.(895-897)GCG>GCA p.A299A HEY2_uc011ebr.1_Silent_p.A253A NM_012259 NP_036391 Q9UBP5 HEY2_HUMAN hairy/enhancer-of-split related with YRPW motif 299 Ala-rich. negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) CAGTGGCCGCGGCCACAGCCA 0.642 MOXD1 26002 broad.mit.edu 37 6 132636888 132636888 + Missense_Mutation SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr6:132636888C>T uc003qdf.2 - 10 1493 c.1394G>A c.(1393-1395)TGT>TAT p.C465Y MOXD1_uc003qde.2_Missense_Mutation_p.C397Y NM_015529 NP_056344 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 isoform 2 465 Lumenal (Potential). catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity ovary(1) 1 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) GTATGAGAGACACATTTCACT 0.368 THSD7A 221981 broad.mit.edu 37 7 11630118 11630118 + Silent SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr7:11630118G>A uc003ssf.3 - 4 1674 c.1422C>T c.(1420-1422)CTC>CTT p.L474L NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 474 Extracellular (Potential).|TSP type-1 4. integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TTAATTGTGAGAGGAGGTTTT 0.517 HNSCC(18;0.044) DNAH11 8701 broad.mit.edu 37 7 21598510 21598510 + Missense_Mutation SNP A A G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr7:21598510A>G uc003svc.2 + 3 617 c.586A>G c.(586-588)AAA>GAA p.K196E NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 196 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 AGAAGTCATGAAAAAGAAGAT 0.358 Kartagener_syndrome GLI3 2737 broad.mit.edu 37 7 42116407 42116408 + Missense_Mutation DNP GG GG CT TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr7:42116407_42116408GG>CT uc011kbh.1 - 4 507_508 c.416_417CC>AG c.(415-417)GCC>GAG p.A139E GLI3_uc011kbg.1_Missense_Mutation_p.A80E NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 139 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 CATGATGTCTGGCATCAATTGG 0.421 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome ZNF498 221785 broad.mit.edu 37 7 99227574 99227574 + Silent SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr7:99227574C>T uc003url.1 + 8 1893 c.1566C>T c.(1564-1566)AGC>AGT p.S522S ZNF498_uc003urm.1_Silent_p.S358S|ZNF498_uc010lge.1_Silent_p.S358S|ZNF498_uc003urn.2_Intron|ZNF498_uc010lgf.1_Silent_p.S450S|ZNF498_uc003uro.1_Silent_p.S306S NM_145115 NP_660090 Q6NSZ9 ZN498_HUMAN zinc finger and SCAN domain containing 25 522 C2H2-type 7; degenerate. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) GCGGGCGAAGCTTCAACCAGA 0.622 CUX1 1523 broad.mit.edu 37 7 101839960 101839960 + Silent SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr7:101839960G>A uc003uyx.3 + 15 1307 c.1269G>A c.(1267-1269)CCG>CCA p.P423P CUX1_uc003uys.3_Silent_p.P434P|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 423 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 GTCGGCGCCCGGGATCTTTGC 0.567 TUSC3 7991 broad.mit.edu 37 8 15519792 15519792 + Missense_Mutation SNP C C A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr8:15519792C>A uc003wwt.2 + 5 905 c.695C>A c.(694-696)GCC>GAC p.A232D TUSC3_uc003wwr.2_Missense_Mutation_p.A232D|TUSC3_uc003wws.2_Missense_Mutation_p.A232D|TUSC3_uc003wwu.2_Missense_Mutation_p.A232D|TUSC3_uc003wwv.2_Missense_Mutation_p.A232D|TUSC3_uc003www.2_Missense_Mutation_p.A232D|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.A232D NM_006765 NP_006756 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 isoform a 232 Helical; (Potential). cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex ovary(2)|central_nervous_system(1) 3 Colorectal(111;0.113) ACTGGTTGGGCCATGGTGTCT 0.358 SCARA5 286133 broad.mit.edu 37 8 27729526 27729526 + Silent SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr8:27729526G>A uc003xgj.2 - 9 1853 c.1413C>T c.(1411-1413)CGC>CGT p.R471R SCARA5_uc010luz.2_Silent_p.R246R NM_173833 NP_776194 Q6ZMJ2 SCAR5_HUMAN scavenger receptor class A, member 5 471 SRCR.|Extracellular (Potential). cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity central_nervous_system(1)|skin(1) 2 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) AGAAGCTGCAGCGGAAGATGG 0.552 FABP12 646486 broad.mit.edu 37 8 82441753 82441753 + Missense_Mutation SNP T T A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr8:82441753T>A uc011lfp.1 - 2 166 c.166A>T c.(166-168)AGC>TGC p.S56C FABP12_uc003ycg.3_RNA NM_001105281 NP_001098751 A6NFH5 FBP12_HUMAN fatty acid binding protein 12 56 lipid binding|transporter activity 0 TTAAAGATGCTTTTGGTTTTT 0.448 WDR67 93594 broad.mit.edu 37 8 124138363 124138363 + Missense_Mutation SNP A A C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr8:124138363A>C uc003ypp.1 + 12 1728 c.1638A>C c.(1636-1638)GAA>GAC p.E546D WDR67_uc011lig.1_Missense_Mutation_p.E546D|WDR67_uc011lih.1_Missense_Mutation_p.E436D|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.E259D|WDR67_uc003ypt.1_Missense_Mutation_p.E3D|WDR67_uc003ypu.1_Missense_Mutation_p.E3D NM_145647 NP_663622 Q96DN5 WDR67_HUMAN WD repeat domain 67 isoform 1 546 Rab-GAP TBC. centrosome Rab GTPase activator activity skin(1) 1 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) GCATGATAGAAAATGTTTTGG 0.328 WISP1 8840 broad.mit.edu 37 8 134239806 134239806 + Silent SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr8:134239806C>T uc003yub.2 + 5 1033 c.957C>T c.(955-957)GAC>GAT p.D319D WISP1_uc003yuc.2_Silent_p.D232D|WISP1_uc010meb.2_Silent_p.D147D|WISP1_uc010mec.2_3'UTR|WISP1_uc010med.2_Silent_p.D74D|WISP1_uc003yud.2_RNA NM_003882 NP_003873 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 319 CTCK. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|kidney(1) 2 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) AGACTATCGACGTGTCCTTCC 0.517 PLEC 5339 broad.mit.edu 37 8 144998480 144998480 + Missense_Mutation SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr8:144998480C>T uc003zaf.1 - 31 6198 c.6028G>A c.(6028-6030)GAG>AAG p.E2010K PLEC_uc003zab.1_Missense_Mutation_p.E1873K|PLEC_uc003zac.1_Missense_Mutation_p.E1877K|PLEC_uc003zad.2_Missense_Mutation_p.E1873K|PLEC_uc003zae.1_Missense_Mutation_p.E1841K|PLEC_uc003zag.1_Missense_Mutation_p.E1851K|PLEC_uc003zah.2_Missense_Mutation_p.E1859K|PLEC_uc003zaj.2_Missense_Mutation_p.E1900K NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2010 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 TGGAAGGCCTCGTCCTCCGCC 0.716 SUSD1 64420 broad.mit.edu 37 9 114875119 114875119 + Silent SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr9:114875119G>A uc004bfu.2 - 7 957 c.916C>T c.(916-918)CTG>TTG p.L306L SUSD1_uc010mui.2_Silent_p.L306L|SUSD1_uc010muj.2_Silent_p.L306L NM_022486 NP_071931 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 precursor 306 Extracellular (Potential). integral to membrane calcium ion binding 0 TCATTAAACAGTGATACATCA 0.348 OBP2A 29991 broad.mit.edu 37 9 138440642 138440642 + Missense_Mutation SNP G G A rs141373494 byFrequency TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr9:138440642G>A uc004cgb.2 + 5 519 c.477G>A c.(475-477)ATG>ATA p.M159I OBP2A_uc004cgc.2_Missense_Mutation_p.C181Y|OBP2A_uc010nau.2_RNA|OBP2A_uc010nav.2_Missense_Mutation_p.M136I NM_014582 NP_055397 Q9NY56 OBP2A_HUMAN odorant binding protein 2A precursor 159 response to stimulus|sensory perception of smell extracellular region odorant binding|transporter activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05) ACATTTTCATGCCCCTGCAGA 0.562 ARSF 416 broad.mit.edu 37 X 3002363 3002363 + Silent SNP C C T rs138766548 byFrequency TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chrX:3002363C>T uc004cre.1 + 6 707 c.486C>T c.(484-486)TAC>TAT p.Y162Y ARSF_uc004crf.1_Silent_p.Y162Y NM_004042 NP_004033 P54793 ARSF_HUMAN arylsulfatase F precursor 162 extracellular region arylsulfatase activity|metal ion binding ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TTGACTACTACTATGGCATGC 0.507 MAGEB3 4114 broad.mit.edu 37 X 30254929 30254929 + Silent SNP T T C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chrX:30254929T>C uc004dca.1 + 5 1625 c.888T>C c.(886-888)AAT>AAC p.N296N NM_002365 NP_002356 O15480 MAGB3_HUMAN melanoma antigen family B, 3 296 MAGE. 0 CCAAGGTCAATAAAACTGTCC 0.498 HUWE1 10075 broad.mit.edu 37 X 53579769 53579769 + Silent SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chrX:53579769G>A uc004dsp.2 - 62 8982 c.8580C>T c.(8578-8580)AGC>AGT p.S2860S HUWE1_uc004dsn.2_Silent_p.S1684S NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 2860 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 AAGCCAGGCTGCTTGTATCCA 0.572 PITX1 5307 broad.mit.edu 37 5 134364978 134364979 + Frame_Shift_Ins INS - - A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr5:134364978_134364979insA uc010jea.2 - 3 828_829 c.435_436insT c.(433-438)CGTAAGfs p.R145fs PITX1_uc011cxy.1_Frame_Shift_Ins_p.R145fs NM_002653 NP_002644 P78337 PITX1_HUMAN paired-like homeodomain transcription factor 1 145_146 Homeobox. nucleolus sequence-specific DNA binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) READ - Rectum adenocarcinoma(2;0.0607) CGCTCGCGCTTACGCCACTTGG 0.688 ARID1A 8289 broad.mit.edu 37 1 27057803 27057804 + Frame_Shift_Del DEL CA CA - TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr1:27057802_27057803CCA>C uc001bmv.1 + 2 1883_1884 c.1510_1511CCA>C c.(1510-1512)ccafs p.P504fs ARID1A_uc001bmt.1_Frame_Shift_Del_p.P504fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.P504fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.P121fs NM_006015 NP_006006 O14497 ARI1A_HUMAN Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA. 504 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex DNA binding|protein binding p.P504fs*125(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TCAGCAGCAGCCACAGTCTCAA 0.609 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" MACF1 23499 broad.mit.edu 37 1 39799060 39799061 + Frame_Shift_Ins INS - - G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr1:39799059_39799060A>AG uc021olw.1 + 0 2119_2120 c.2119_2120A>AG c.(2119-2121)aggfs p.R707fs MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 2272 Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing Golgi apparatus|microtubule|ruffle membrane ATPase activity|actin filament binding|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGATAGTGGCAGGGAAATTTTT 0.391 PITX1 5307 broad.mit.edu 37 5 134364979 134364980 + Frame_Shift_Ins INS - - A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr5:134364978_134364979T>TA uc010jea.3 - 2 828_829 c.435_436A>TA c.(433-438)cgtaagfs p.R145fs NM_002653 NP_002644 P78337 PITX1_HUMAN Homo sapiens paired-like homeodomain 1 (PITX1), mRNA. 145 nucleolus sequence-specific DNA binding central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) READ - Rectum adenocarcinoma(2;0.0607) CGCTCGCGCTTACGCCACTTGG 0.688 BYSL 705 broad.mit.edu 37 6 41889330 41889331 + Frame_Shift_Ins INS - - G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr6:41889329_41889330T>TG uc003orl.3 + 0 365_366 c.29_30T>TG c.(28-30)gtgfs p.V10fs MED20_uc003orj.3_5'Flank|MED20_uc003ork.3_5'Flank|MED20_uc011duh.2_5'Flank|MED20_uc011dui.2_5'Flank|MED20_uc011duj.2_5'Flank NM_004053 NP_004044 Q13895 BYST_HUMAN Homo sapiens bystin-like (BYSL), mRNA. 10 cell adhesion|female pregnancy|ribosome biogenesis cytoplasm|nucleolus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1) 8 Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GCCCGTGGGGTGGGGGGTCAGG 0.649 OREG0017436 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) IKBKAP 8518 broad.mit.edu 37 9 111640313 111640313 + Frame_Shift_Del DEL T T - TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr9:111640312_111640312AT>A uc004bdm.4 - 34 4338 c.3818_3818AT>T c.(3817-3819)attfs p.I1273fs IKBKAP_uc004bdl.3_Frame_Shift_Del_p.I924fs|IKBKAP_uc011lwc.2_Frame_Shift_Del_p.I1159fs|IKBKAP_uc010mtq.3_Frame_Shift_Del_p.I924fs|IKBKAP_uc004bdk.3_Frame_Shift_Del_p.I277fs|IKBKAP_uc010mtp.3_Non-coding_Transcript NM_003640 NP_003631 O95163 ELP1_HUMAN Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA. 1273 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 AAGAGTCCAAATTTCTGGAAG 0.398 MUC6 4588 broad.mit.edu 37 11 1016412 1016414 + In_Frame_Del DEL GAG GAG - TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 g.chr11:1016411_1016413TGAG>T uc001lsw.2 - 30 6439_6441 c.6388_6390CTCA>A c.(6388-6390)tca>A p.S2130del NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA. 2130 Ser-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent p.S2130delS(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|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;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGGGAGAAAATGAGGAGGACAGC 0.522