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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample H6PD 9563 broad.mit.edu 37 1 9324107 9324107 + Missense_Mutation SNP C C T rs35863691 byFrequency TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:9324107C>T uc001apt.2 + 5 1828 c.1555C>T c.(1555-1557)CGG>TGG p.R519W NM_004285 NP_004276 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase precursor 519 Glucose 1-dehydrogenase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding 0 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) CAGTAGCGGCCGGTTGTTCTT 0.637 NaN 0 0 0 0.00278 0 23 233 PLA2G2A 5320 broad.mit.edu 37 1 20302318 20302318 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:20302318C>T uc001bcu.2 - 5 529 c.311G>A c.(310-312)AGA>AAA p.R104K PLA2G2A_uc001bcv.2_Missense_Mutation_p.R104K|PLA2G2A_uc010oda.1_Missense_Mutation_p.R104K|PLA2G2A_uc010odb.1_Missense_Mutation_p.R104K NM_001161729 NP_001155201 P14555 PA2GA_HUMAN phospholipase A2, group IIA precursor 104 defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation endoplasmic reticulum|extracellular space|membrane calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding 0 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CAGTTGACTTCTGCAGGAGTC 0.398 NaN 0 0 0 0.008291 0 10 39 KIF2C 11004 broad.mit.edu 37 1 45226006 45226006 + Silent SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:45226006C>T uc001cmg.3 + 15 1537 c.1422C>T c.(1420-1422)TTC>TTT p.F474F KIF2C_uc010olb.1_Silent_p.F433F|KIF2C_uc010olc.1_Silent_p.F361F|KIF2C_uc001cmh.3_Silent_p.F420F NM_006845 NP_006836 Q99661 KIF2C_HUMAN kinesin family member 2C 474 Kinesin-motor. blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) ACGCGTGCTTCCAAATTATTC 0.527 NaN 0 0 0 0.003755 0 33 23 ZCCHC11 23318 broad.mit.edu 37 1 52941116 52941116 + Silent SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:52941116C>T uc001ctx.2 - 13 2349 c.2115G>A c.(2113-2115)CGG>CGA p.R705R ZCCHC11_uc001cty.2_Silent_p.R705R|ZCCHC11_uc001ctz.2_Silent_p.R705R|ZCCHC11_uc009vze.1_Silent_p.R705R|ZCCHC11_uc009vzf.1_Silent_p.R464R|ZCCHC11_uc001cub.2_Silent_p.R705R NM_015269 NP_056084 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 isoform 705 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding ovary(2)|skin(1) 3 AGGCAAAATACCGATAAGCTG 0.418 NaN 0 0 0 0.007413 0 19 55 GBP4 115361 broad.mit.edu 37 1 89661003 89661003 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:89661003C>T uc001dnb.2 - 3 456 c.340G>A c.(340-342)GAG>AAG p.E114K NM_052941 NP_443173 Q96PP9 GBP4_HUMAN guanylate binding protein 4 114 GTP (By similarity). cytoplasm GTP binding|GTPase activity 0 all cancers(265;0.00723)|Epithelial(280;0.0291) CCCAGGCCCTCGGTGTCCAGA 0.522 NaN 0 0 0 0.01441 0 55 111 SLC44A3 126969 broad.mit.edu 37 1 95360474 95360474 + Missense_Mutation SNP G G C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:95360474G>C uc001dqv.3 + 15 2065 c.1958G>C c.(1957-1959)AGA>ACA p.R653T SLC44A3_uc001dqx.3_Missense_Mutation_p.R652T|SLC44A3_uc010otq.1_Missense_Mutation_p.R585T|SLC44A3_uc010otr.1_Missense_Mutation_p.R617T|SLC44A3_uc001dqw.3_Missense_Mutation_p.R605T|SLC44A3_uc010ots.1_Missense_Mutation_p.R573T|SLC44A3_uc009wds.2_Missense_Mutation_p.R556T|SLC44A3_uc010ott.1_Missense_Mutation_p.R572T NM_001114106 NP_001107578 Q8N4M1 CTL3_HUMAN solute carrier family 44, member 3 isoform 1 653 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1) 1 all_lung(203;0.000712)|Lung NSC(277;0.00316) all cancers(265;0.039)|Epithelial(280;0.124) Choline(DB00122) GCCATTGTGAGATAGATACCC 0.393 NaN 0 0 0 0.00632 0 23 40 OLFM3 118427 broad.mit.edu 37 1 102271652 102271652 + Missense_Mutation SNP C C G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:102271652C>G uc001duf.2 - 5 810 c.739G>C c.(739-741)GCA>CCA p.A247P OLFM3_uc001dug.2_Missense_Mutation_p.A227P|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.A152P|OLFM3_uc001due.2_RNA NM_058170 NP_477518 Q96PB7 NOE3_HUMAN olfactomedin 3 247 Olfactomedin-like. extracellular region ovary(2)|skin(1) 3 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) TTCTCAGATGCTAAAGGGTCT 0.398 NaN 0 0 0 0.007413 0 15 135 WDR47 22911 broad.mit.edu 37 1 109538452 109538452 + Missense_Mutation SNP G G C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:109538452G>C uc001dwj.2 - 8 1817 c.1441C>G c.(1441-1443)CAA>GAA p.Q481E WDR47_uc001dwl.2_Missense_Mutation_p.Q489E|WDR47_uc001dwi.2_Missense_Mutation_p.Q482E|WDR47_uc001dwk.2_Missense_Mutation_p.Q453E|WDR47_uc010ovf.1_Missense_Mutation_p.Q408E NM_001142551 NP_001136023 O94967 WDR47_HUMAN WD repeat domain 47 isoform 3 481 ovary(1) 1 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) CCAAGCTTTTGAATGGACCTA 0.313 NaN 0 0 0 0.00278 0 24 78 KCND3 3752 broad.mit.edu 37 1 112525046 112525046 + Silent SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:112525046C>T uc001ebu.1 - 2 783 c.303G>A c.(301-303)GGG>GGA p.G101G KCND3_uc001ebv.1_Silent_p.G101G NM_004980 NP_004971 Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related 101 Cytoplasmic (Potential). sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding ovary(2)|large_intestine(1) 3 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) AGTGCAGCTTCCCCGTGCGGT 0.607 NaN 0 0 0 0.003755 0 30 139 ATP1A1 476 broad.mit.edu 37 1 116932065 116932065 + Silent SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:116932065C>T uc001ege.2 + 8 1098 c.759C>T c.(757-759)ACC>ACT p.T253T ATP1A1_uc010owv.1_Silent_p.T222T|ATP1A1_uc010oww.1_Silent_p.T253T|ATP1A1_uc010owx.1_Silent_p.T222T NM_000701 NP_000692 P05023 AT1A1_HUMAN Na+/K+ -ATPase alpha 1 subunit isoform a 253 Cytoplasmic (Potential). ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity ovary(1) 1 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) TTTAAGGCACCGCACGTGGTA 0.473 NaN 0 0 0 0.01441 0 46 193 ATP1A1 476 broad.mit.edu 37 1 116932235 116932235 + Missense_Mutation SNP C C G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:116932235C>G uc001ege.2 + 8 1268 c.929C>G c.(928-930)TCT>TGT p.S310C ATP1A1_uc010owv.1_Missense_Mutation_p.S279C|ATP1A1_uc010oww.1_Missense_Mutation_p.S310C|ATP1A1_uc010owx.1_Missense_Mutation_p.S279C NM_000701 NP_000692 P05023 AT1A1_HUMAN Na+/K+ -ATPase alpha 1 subunit isoform a 310 Extracellular (Potential). ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity ovary(1) 1 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) TTCATCCTTTCTCTCATCCTT 0.507 NaN 0 0 0 0.007413 0 16 56 TARS2 80222 broad.mit.edu 37 1 150459941 150459941 + Missense_Mutation SNP G G C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:150459941G>C uc001euq.2 + 1 22 c.15G>C c.(13-15)CAG>CAC p.Q5H TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Missense_Mutation_p.Q5H|TARS2_uc009wlt.2_5'UTR|TARS2_uc009wls.2_Missense_Mutation_p.Q5H NM_025150 NP_079426 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial 5 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity ovary(1) 1 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) CCCTGTATCAGAGGTGGCGGT 0.552 NaN 0 0 0 0.004656 0 21 225 TARS2 80222 broad.mit.edu 37 1 150460385 150460385 + Missense_Mutation SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:150460385G>A uc001euq.2 + 2 125 c.118G>A c.(118-120)GAG>AAG p.E40K TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Missense_Mutation_p.E40K|TARS2_uc009wlt.2_5'UTR|TARS2_uc009wls.2_Missense_Mutation_p.E40K NM_025150 NP_079426 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial 40 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity ovary(1) 1 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) TGGCCTTTTTGAGGAGCTGTG 0.507 NaN 0 0 0 0.007835 0 38 263 TARS2 80222 broad.mit.edu 37 1 150463886 150463886 + Missense_Mutation SNP G G C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:150463886G>C uc001euq.2 + 5 536 c.529G>C c.(529-531)GAG>CAG p.E177Q TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Missense_Mutation_p.E177Q|TARS2_uc009wlt.2_Intron|TARS2_uc009wls.2_Missense_Mutation_p.E177Q NM_025150 NP_079426 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial 177 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity ovary(1) 1 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) CCGGGGCTCAGAGCTGCCTGT 0.552 NaN 0 0 0 0.004289 0 34 254 ADAMTSL4 54507 broad.mit.edu 37 1 150532263 150532263 + Silent SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:150532263G>A uc001eux.2 + 18 3206 c.2970G>A c.(2968-2970)ACG>ACA p.T990T ADAMTSL4_uc009wlw.2_Silent_p.T1013T|ADAMTSL4_uc010pcg.1_Silent_p.T951T|ADAMTSL4_uc009wlx.2_Silent_p.T153T NM_019032 NP_061905 Q6UY14 ATL4_HUMAN thrombospondin repeat containing 1 isoform 1 990 TSP type-1 6. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding ovary(1)|skin(1) 2 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) AAGGGGGAACGCAGACACGGG 0.637 NaN OREG0013787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.010818 0 28 533 PIP5K1A 8394 broad.mit.edu 37 1 151205150 151205150 + Missense_Mutation SNP C C G rs148159537 byFrequency TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:151205150C>G uc001exj.2 + 7 1062 c.610C>G c.(610-612)CTG>GTG p.L204V PIP5K1A_uc001exi.2_Missense_Mutation_p.L191V|PIP5K1A_uc010pcu.1_Missense_Mutation_p.L192V|PIP5K1A_uc001exk.2_Missense_Mutation_p.L191V|PIP5K1A_uc010pcv.1_5'Flank NM_001135638 NP_001129110 Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 204 PIPK. phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) GGCGGAATTTCTGCAGAAGCT 0.498 NaN 0 0 0 0.003954 0 19 152 FLG 2312 broad.mit.edu 37 1 152280743 152280743 + Missense_Mutation SNP C C G rs71625185 TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:152280743C>G uc001ezu.1 - 3 6655 c.6619G>C c.(6619-6621)GGG>CGG p.G2207R NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2207 Ser-rich.|Filaggrin 13. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGATGCGACCCTGAGTGCCTA 0.572 NaN Ichthyosis 0 0 0 0.009535 0 29 572 FLG 2312 broad.mit.edu 37 1 152286605 152286605 + Missense_Mutation SNP C C G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:152286605C>G uc001ezu.1 - 3 793 c.757G>C c.(757-759)GAA>CAA p.E253Q uc001ezv.2_Intron NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 253 keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATTTTGTTTTCTTCTAATAGA 0.378 NaN Ichthyosis 0 0 0 0.01441 0 68 381 FLG 2312 broad.mit.edu 37 1 152287125 152287125 + Silent SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:152287125G>A uc001ezu.1 - 3 273 c.237C>T c.(235-237)TTC>TTT p.F79F uc001ezv.2_RNA NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 79 EF-hand 2. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGCCAACTTGAATACCATCA 0.378 NaN Ichthyosis 0 0 0 0.004656 0 26 174 FCRL2 79368 broad.mit.edu 37 1 157738266 157738266 + Missense_Mutation SNP T T A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:157738266T>A uc001fre.2 - 5 880 c.821A>T c.(820-822)TAC>TTC p.Y274F FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.Y274F|FCRL2_uc009wsp.2_Intron NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 precursor 274 Ig-like C2-type 3.|Extracellular (Potential). cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity ovary(1)|pancreas(1) 2 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) AGCTCTACAGTAATATTTGCC 0.498 NaN 0 0 0 0.00245 0 14 169 XPR1 9213 broad.mit.edu 37 1 180775611 180775611 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:180775611C>T uc001goi.2 + 6 791 c.599C>T c.(598-600)GCT>GTT p.A200V XPR1_uc009wxm.2_Missense_Mutation_p.A200V|XPR1_uc009wxn.2_Missense_Mutation_p.A200V NM_004736 NP_004727 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 200 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity 0 TCTTTCTAGGCTGTAGTGACC 0.368 NaN 0 0 0 0.005443 0 22 69 CFHR2 3080 broad.mit.edu 37 1 196920122 196920122 + Missense_Mutation SNP C C T rs111586074 TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:196920122C>T uc001gtq.1 + 3 471 c.394C>T c.(394-396)CGG>TGG p.R132W CFHR2_uc001gtr.1_Intron NM_005666 NP_005657 P36980 FHR2_HUMAN H factor (complement)-like 3 precursor 132 Sushi 2. extracellular region skin(2)|ovary(1) 3 ATGTGTAGAACGGGGCTGGTC 0.373 NaN 0 0 0 0.01441 0 57 39 RPS6KC1 26750 broad.mit.edu 37 1 213414318 213414318 + Missense_Mutation SNP C C G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:213414318C>G uc010ptr.1 + 11 1658 c.1499C>G c.(1498-1500)TCT>TGT p.S500C RPS6KC1_uc001hkd.2_Missense_Mutation_p.S488C|RPS6KC1_uc010pts.1_Missense_Mutation_p.S288C|RPS6KC1_uc010ptt.1_Missense_Mutation_p.S288C|RPS6KC1_uc010ptu.1_Missense_Mutation_p.S319C|RPS6KC1_uc010ptv.1_Missense_Mutation_p.S35C|RPS6KC1_uc001hke.2_Missense_Mutation_p.S319C NM_012424 NP_036556 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 500 cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(3)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) TGGCCAGATTCTGGTTCAAGT 0.413 NaN 0 0 0 0.00278 0 19 34 CENPF 1063 broad.mit.edu 37 1 214820493 214820493 + Missense_Mutation SNP T T C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:214820493T>C uc001hkm.2 + 13 7754 c.7580T>C c.(7579-7581)CTG>CCG p.L2527P NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 2623 Potential.|Sufficient for self-association.|Sufficient for centromere localization. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) ATCAGTAGACTGAAAAATCAA 0.388 NaN 0 0 0 0.000602 0 4 56 EXOC8 149371 broad.mit.edu 37 1 231472540 231472540 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:231472540C>T uc001huq.2 - 1 1039 c.952G>A c.(952-954)GAA>AAA p.E318K NM_175876 NP_787072 Q8IYI6 EXOC8_HUMAN exocyst complex 84-kDa subunit 318 Poly-Glu. exocytosis|protein transport growth cone|nucleus protein binding skin(1) 1 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) GCTGGTTCTTCTTCTTCGTCA 0.557 NaN 0 0 0 0.01441 0 49 68 LYST 1130 broad.mit.edu 37 1 235952011 235952011 + Missense_Mutation SNP G G C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:235952011G>C uc001hxj.2 - 13 4853 c.4678C>G c.(4678-4680)CTT>GTT p.L1560V LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 1560 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) CGAAAGATAAGAGTGGCATTG 0.358 NaN Chediak-Higashi_syndrome 0 0 0 0.00499 0 11 46 FMN2 56776 broad.mit.edu 37 1 240286571 240286571 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:240286571C>T uc010pyd.1 + 2 1933 c.1708C>T c.(1708-1710)CTT>TTT p.L570F FMN2_uc010pye.1_Missense_Mutation_p.L570F NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 570 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TGCCATGGGTCTTCTCCTTCC 0.502 NaN 0 0 0 0.012319 0 19 81 OR2T4 127074 broad.mit.edu 37 1 248525601 248525601 + Missense_Mutation SNP T T C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:248525601T>C uc001ieh.1 + 1 719 c.719T>C c.(718-720)CTC>CCC p.L240P NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 240 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTCATGCTCCTCATCCCTGTG 0.483 NaN 0 0 0 0.006122 0 14 203 GTPBP4 23560 broad.mit.edu 37 10 1042070 1042070 + Silent SNP G G C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr10:1042070G>C uc001ift.2 + 4 419 c.348G>C c.(346-348)CTG>CTC p.L116L GTPBP4_uc010qac.1_5'UTR|GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_5'UTR|GTPBP4_uc010qae.1_Silent_p.L69L NM_012341 NP_036473 Q9BZE4 NOG1_HUMAN G protein-binding protein CRFG 116 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding ovary(1)|skin(1) 2 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) ATGTGCGACTGATGAAGTATG 0.413 NaN 0 0 0 0.004672 0 3 12 TET1 80312 broad.mit.edu 37 10 70404903 70404903 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr10:70404903C>T uc001jok.3 + 4 2922 c.2417C>T c.(2416-2418)TCT>TTT p.S806F NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 806 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 GCTATGAGCTCTGTTGCTACT 0.358 NaN 0 0 0 0.003755 0 29 79 KCNMA1 3778 broad.mit.edu 37 10 78669798 78669798 + Missense_Mutation SNP C C G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr10:78669798C>G uc001jxn.2 - 25 3250 c.3073G>C c.(3073-3075)GAA>CAA p.E1025Q KCNMA1_uc001jxj.2_Missense_Mutation_p.E971Q|KCNMA1_uc001jxk.1_Missense_Mutation_p.E643Q|KCNMA1_uc009xrt.1_Missense_Mutation_p.E816Q|KCNMA1_uc001jxl.1_Missense_Mutation_p.E650Q|KCNMA1_uc001jxo.2_Missense_Mutation_p.E1008Q|KCNMA1_uc001jxm.2_Missense_Mutation_p.E967Q|KCNMA1_uc001jxq.2_Missense_Mutation_p.E997Q NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 1025 Calcium bowl.|Cytoplasmic (Potential). cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) AGGTACAGTTCTGTATCAGGG 0.473 NaN 0 0 0 0.003271 0 29 17 DLG5 9231 broad.mit.edu 37 10 79565534 79565534 + Missense_Mutation SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr10:79565534G>A uc001jzk.2 - 27 5123 c.5053C>T c.(5053-5055)CGC>TGC p.R1685C DLG5_uc001jzi.2_Missense_Mutation_p.R440C|DLG5_uc001jzj.2_Missense_Mutation_p.R1100C|DLG5_uc009xru.1_RNA NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 1685 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) AAGGACCGGCGTGCAGCCGCT 0.552 NaN 0 0 0 0.01441 0 83 37 OR52E8 390079 broad.mit.edu 37 11 5878060 5878060 + Silent SNP G G T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr11:5878060G>T uc010qzr.1 - 1 873 c.873C>A c.(871-873)GCC>GCA p.A291A TRIM5_uc001mbq.1_Intron NM_001005168 NP_001005168 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, 291 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGGATTGAGGGCTGGTGGGA 0.423 NaN 1 0 2.02624e-56 0.01441 2.25348e-56 85 145 NLRP14 338323 broad.mit.edu 37 11 7064578 7064578 + Missense_Mutation SNP G G A rs147389856 byFrequency TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr11:7064578G>A uc001mfb.1 + 4 1644 c.1321G>A c.(1321-1323)GTG>ATG p.V441M NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 441 NACHT. V -> M. cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TATGACTTACGTGTTTTACAG 0.438 NaN 0 0 0 0.01441 0 63 91 NAV2 89797 broad.mit.edu 37 11 19735319 19735319 + Silent SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr11:19735319C>T uc010rdm.1 + 1 439 c.78C>T c.(76-78)CAC>CAT p.H26H NAV2_uc001mpp.2_Intron|NAV2_uc001mpr.3_Silent_p.H26H|LOC100126784_uc010rdl.1_3'UTR NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 26 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 CCATCCTGCACGTgcccccgg 0.537 NaN 0 0 0 0.003954 0 20 16 ZFP91 80829 broad.mit.edu 37 11 58379117 58379117 + Missense_Mutation SNP G G C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr11:58379117G>C uc001nmx.3 + 6 931 c.763G>C c.(763-765)GAA>CAA p.E255Q ZFP91_uc001nmy.3_Missense_Mutation_p.E254Q|ZFP91-CNTF_uc010rkm.1_RNA NM_053023 NP_444251 Q96JP5 ZFP91_HUMAN zinc finger protein 91 255 Glu-rich. activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) gaaggtaaaagaagagaagga 0.209 NaN 0 0 0 0.003163 0 15 18 STX3 6809 broad.mit.edu 37 11 59540702 59540702 + Missense_Mutation SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr11:59540702G>A uc001nog.2 + 2 239 c.49G>A c.(49-51)GAT>AAT p.D17N STX3_uc010rkx.1_Missense_Mutation_p.D17N|STX3_uc010rky.1_5'UTR NM_004177 NP_004168 Q13277 STX3_HUMAN syntaxin 3 17 Cytoplasmic (Potential). cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule arachidonic acid binding|SNAP receptor activity ovary(2) 2 GACACAGGATGATGATACTGA 0.348 NaN 0 0 0 0.01441 0 72 168 STX3 6809 broad.mit.edu 37 11 59540705 59540705 + Missense_Mutation SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr11:59540705G>A uc001nog.2 + 2 242 c.52G>A c.(52-54)GAT>AAT p.D18N STX3_uc010rkx.1_Missense_Mutation_p.D18N|STX3_uc010rky.1_5'UTR NM_004177 NP_004168 Q13277 STX3_HUMAN syntaxin 3 18 Cytoplasmic (Potential). cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule arachidonic acid binding|SNAP receptor activity ovary(2) 2 ACAGGATGATGATACTGATGC 0.348 NaN 0 0 0 0.01441 0 73 171 RCE1 9986 broad.mit.edu 37 11 66611253 66611253 + Missense_Mutation SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr11:66611253G>A uc001ojk.1 + 2 253 c.209G>A c.(208-210)CGA>CAA p.R70Q RCE1_uc001ojl.1_5'UTR NM_005133 NP_005124 Q9Y256 FACE2_HUMAN prenyl protein peptidase RCE1 isoform 1 70 proteolysis endoplasmic reticulum membrane|integral to plasma membrane metalloendopeptidase activity ovary(1)|breast(1) 2 GTCATCAAGCGACGCTTCACC 0.672 NaN 0 0 0 0.008871 0 18 40 GRM5 2915 broad.mit.edu 37 11 88323888 88323888 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr11:88323888C>T uc001pcq.2 - 6 1771 c.1571G>A c.(1570-1572)CGA>CAA p.R524Q GRM5_uc009yvm.2_Missense_Mutation_p.R524Q NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 524 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) TTCTCCCTTTCGGATCACCTA 0.378 NaN 0 0 0 0.003271 0 28 69 EXPH5 23086 broad.mit.edu 37 11 108381102 108381102 + Missense_Mutation SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr11:108381102G>A uc001pkk.2 - 6 5243 c.5132C>T c.(5131-5133)TCA>TTA p.S1711L EXPH5_uc010rvy.1_Missense_Mutation_p.S1523L|EXPH5_uc010rvz.1_Missense_Mutation_p.S1555L|EXPH5_uc010rwa.1_Missense_Mutation_p.S1635L NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 1711 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CTCATGCTTTGATGGTGATTC 0.443 NaN 0 0 0 0.004878 0 38 94 CACNA1C 775 broad.mit.edu 37 12 2760832 2760832 + Silent SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr12:2760832C>T uc009zdu.1 + 34 4429 c.4116C>T c.(4114-4116)TCC>TCT p.S1372S CACNA1C_uc009zdv.1_Silent_p.S1321S|CACNA1C_uc001qkb.2_Silent_p.S1324S|CACNA1C_uc001qkc.2_Silent_p.S1324S|CACNA1C_uc001qke.2_Silent_p.S1313S|CACNA1C_uc001qkf.2_Silent_p.S1313S|CACNA1C_uc001qjz.2_Silent_p.S1324S|CACNA1C_uc001qkd.2_Silent_p.S1324S|CACNA1C_uc001qkg.2_Silent_p.S1311S|CACNA1C_uc009zdw.1_Silent_p.S1346S|CACNA1C_uc001qkh.2_Silent_p.S1313S|CACNA1C_uc001qkl.2_Silent_p.S1372S|CACNA1C_uc001qkn.2_Silent_p.S1324S|CACNA1C_uc001qko.2_Silent_p.S1344S|CACNA1C_uc001qkp.2_Silent_p.S1324S|CACNA1C_uc001qkr.2_Silent_p.S1341S|CACNA1C_uc001qku.2_Silent_p.S1324S|CACNA1C_uc001qkq.2_Silent_p.S1352S|CACNA1C_uc001qks.2_Silent_p.S1324S|CACNA1C_uc001qkt.2_Silent_p.S1324S|CACNA1C_uc001qki.1_Silent_p.S1060S|CACNA1C_uc001qkj.1_Silent_p.S1060S|CACNA1C_uc001qkk.1_Silent_p.S1060S|CACNA1C_uc001qkm.1_Silent_p.S1049S|CACNA1C_uc010sea.1_Silent_p.S15S NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1372 Extracellular (Potential).|IV. axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CCCGCATCTCCATCACCTTCT 0.612 NaN 0 0 0 0.013726 0 28 136 ACSM4 341392 broad.mit.edu 37 12 7459281 7459281 + Silent SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr12:7459281C>T uc001qsx.1 + 2 354 c.354C>T c.(352-354)GCC>GCT p.A118A NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 118 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding 0 ACCGTTTGGCCGTGATTCTGC 0.512 NaN 0 0 0 0.012213 0 25 11 CLEC4E 26253 broad.mit.edu 37 12 8691854 8691854 + Missense_Mutation SNP G G A rs137962363 TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr12:8691854G>A uc001quo.1 - 3 344 c.179C>T c.(178-180)CCT>CTT p.P60L NM_014358 NP_055173 Q9ULY5 CLC4E_HUMAN C-type lectin domain family 4, member E 60 Extracellular (Potential). integral to membrane sugar binding central_nervous_system(1) 1 Lung SC(5;0.184) GAAATTCTCAGGTAGCTGAAA 0.358 NaN 0 0 0 0.008291 0 10 230 PLCZ1 89869 broad.mit.edu 37 12 18854476 18854476 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr12:18854476C>T uc010sid.1 - 9 1167 c.976G>A c.(976-978)GTA>ATA p.V326I PLCZ1_uc001rdv.3_Missense_Mutation_p.V222I|PLCZ1_uc001rdw.3_Missense_Mutation_p.V67I|PLCZ1_uc001rdu.1_Missense_Mutation_p.V108I|PLCZ1_uc009zil.1_RNA NM_033123 NP_149114 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 326 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) AACTTTTTTACCCCTGTTTCC 0.264 NaN 0 0 0 0.01441 0 46 32 PRKAG1 5571 broad.mit.edu 37 12 49406886 49406886 + Missense_Mutation SNP G G C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr12:49406886G>C uc001rsy.2 - 2 86 c.17C>G c.(16-18)TCT>TGT p.S6C uc001rsw.2_Intron|PRKAG1_uc010smd.1_5'UTR|PRKAG1_uc001rsx.2_5'UTR|PRKAG1_uc001rsz.2_Missense_Mutation_p.S6C|PRKAG1_uc009zlb.2_5'UTR|PRKAG1_uc010sme.1_Missense_Mutation_p.S6C NM_002733 NP_002724 P54619 AAKG1_HUMAN AMP-activated protein kinase, noncatalytic 6 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis cytosol cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding kidney(1) 1 GCTATCTGAAGAAATGACCTG 0.423 NaN 0 0 0 0.009718 0 38 23 MLL2 8085 broad.mit.edu 37 12 49443634 49443634 + Missense_Mutation SNP G G A rs112921115 TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr12:49443634G>A uc001rta.3 - 11 3737 c.3737C>T c.(3736-3738)ACG>ATG p.T1246M NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1246 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 ACTAACATCCGTAGAGACCCC 0.602 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 0 0 0 0.01441 0 97 80 MLL2 8085 broad.mit.edu 37 12 49446856 49446856 + Splice_Site SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr12:49446856C>T uc001rta.3 - 8 955 c.955_splice c.e8-1 p.A319_splice NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CCCGGCACGCCTAAGGGAAGG 0.532 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 0 0 0 0.01441 0 47 111 KRT18 3875 broad.mit.edu 37 12 53343177 53343177 + Missense_Mutation SNP A A T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr12:53343177A>T uc001sbe.2 + 2 289 c.220A>T c.(220-222)ATG>TTG p.M74L KRT18_uc009zmn.1_Missense_Mutation_p.M74L|KRT18_uc001sbf.1_5'UTR|KRT18_uc001sbg.2_Missense_Mutation_p.M74L|KRT18_uc009zmo.2_Missense_Mutation_p.M74L|KRT8_uc009zml.1_Intron|KRT8_uc009zmm.1_Intron NM_199187 NP_954657 P05783 K1C18_HUMAN keratin 18 74 Head.|Necessary for interaction with PNN. anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis centriolar satellite|keratin filament|perinuclear region of cytoplasm protein binding|structural molecule activity skin(1) 1 TCTGGCAGGAATGGGAGGCAT 0.662 NaN 0 0 0 0.012213 0 30 55 OR6C74 254783 broad.mit.edu 37 12 55641322 55641322 + Missense_Mutation SNP C C A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr12:55641322C>A uc010spg.1 + 1 251 c.251C>A c.(250-252)GCA>GAA p.A84E NM_001005490 NP_001005490 A6NCV1 O6C74_HUMAN olfactory receptor, family 6, subfamily C, 84 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 GTTAGTATGGCAACAGGTGAT 0.398 NaN 1 0 1.61879e-10 0.013537 1.6751e-10 10 266 NUDT4 11163 broad.mit.edu 37 12 93793095 93793095 + Missense_Mutation SNP T T G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr12:93793095T>G uc001tcm.2 + 5 881 c.483T>G c.(481-483)GAT>GAG p.D161E NUDT4_uc010sup.1_Missense_Mutation_p.D161E|NUDT4_uc001tcn.2_Missense_Mutation_p.D109E|NUDT4_uc010suq.1_Missense_Mutation_p.D110E|NUDT4_uc001tco.2_Missense_Mutation_p.D109E NM_019094 NP_061967 Q9NZJ9 NUDT4_HUMAN nudix-type motif 4 isoform alpha 161 calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding 0 CCCTTCCGGATAATAATGCCT 0.478 NaN 0 0 0 0.008291 0 8 283 GOLGA2B 55592 broad.mit.edu 37 12 100551433 100551433 + Missense_Mutation SNP C C A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr12:100551433C>A uc001tgs.2 - 4 607 c.163G>T c.(163-165)GCC>TCC p.A55S GOLGA2B_uc001tgt.2_RNA|GOLGA2B_uc001tgu.2_Missense_Mutation_p.A55S|uc001tgx.2_5'Flank NM_017600 NP_060070 golgi autoantigen, golgin subfamily a, 2-like 1 0 ATGAGCCAGGCGCTGGCAGTG 0.622 NaN 1 0 3.73148e-12 0.007291 3.87813e-12 22 47 EID3 493861 broad.mit.edu 37 12 104697751 104697751 + Silent SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr12:104697751C>T uc001tkw.2 + 1 203 c.39C>T c.(37-39)TCC>TCT p.S13S TXNRD1_uc010swk.1_Intron|TXNRD1_uc010swl.1_Intron|TXNRD1_uc010swm.1_Intron|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Intron|TXNRD1_uc001tku.2_Intron|TXNRD1_uc001tko.1_Intron|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_Intron NM_001008394 NP_001008395 Q8N140 EID3_HUMAN EP300 interacting inhibitor of differentiation 13 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus 0 CGGGCTGCTCCGACGACCTCA 0.662 NaN 0 0 0 0.000602 0 5 22 POLR3B 55703 broad.mit.edu 37 12 106890641 106890641 + Missense_Mutation SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr12:106890641G>A uc001tlp.2 + 25 3151 c.2929G>A c.(2929-2931)GTT>ATT p.V977I POLR3B_uc001tlq.2_Missense_Mutation_p.V919I NM_018082 NP_060552 Q9NW08 RPC2_HUMAN DNA-directed RNA polymerase III B isoform 1 977 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding ovary(1)|central_nervous_system(1) 2 TGAGGACCTCGTTCGCCATGG 0.488 NaN 0 0 0 0.01441 0 42 102 GLTP 51228 broad.mit.edu 37 12 110318126 110318126 + Missense_Mutation SNP G G C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr12:110318126G>C uc001tpm.2 - 1 168 c.54C>G c.(52-54)ATC>ATG p.I18M GLTP_uc010sxt.1_RNA NM_016433 NP_057517 Q9NZD2 GLTP_HUMAN glycolipid transfer protein 18 cytoplasm glycolipid binding|glycolipid transporter activity 0 Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122) BRCA - Breast invasive adenocarcinoma(302;0.0025) GCCCGGTCTCGATCTGCTTGT 0.627 NaN 0 0 0 0.00499 0 12 24 GIT2 9815 broad.mit.edu 37 12 110397701 110397701 + Silent SNP G G C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr12:110397701G>C uc001tps.2 - 12 1215 c.1050C>G c.(1048-1050)CTC>CTG p.L350L GIT2_uc001tpq.2_Silent_p.L350L|GIT2_uc001tpv.2_Silent_p.L352L|GIT2_uc001tpu.2_Silent_p.L350L|GIT2_uc001tpt.2_Silent_p.L350L|GIT2_uc010sxu.1_Silent_p.L288L|GIT2_uc001tpw.2_Silent_p.L350L|GIT2_uc010sxv.1_Silent_p.L350L NM_057169 NP_476510 Q14161 GIT2_HUMAN G protein-coupled receptor kinase interacting 350 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway nucleoplasm ARF GTPase activator activity|protein binding|zinc ion binding central_nervous_system(1) 1 TGGCGTCACTGAGAATGTCAA 0.463 NaN 0 0 0 0.005443 0 22 59 C12orf51 283450 broad.mit.edu 37 12 112696955 112696955 + Silent SNP C C G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr12:112696955C>G uc009zwc.2 - 12 1710 c.1692G>C c.(1690-1692)CTG>CTC p.L564L C12orf51_uc010syk.1_Silent_p.L387L|C12orf51_uc001tts.2_Silent_p.L387L|C12orf51_uc001ttt.3_Silent_p.L385L NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 GCTGAGGCATCAGGGCATCCG 0.483 NaN 0 0 0 0.01441 0 41 694 SFRS9 8683 broad.mit.edu 37 12 120901878 120901878 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr12:120901878C>T uc001tyi.2 - 3 543 c.397G>A c.(397-399)GAA>AAA p.E133K NM_003769 NP_003760 Q13242 SRSF9_HUMAN splicing factor, arginine/serine-rich 9 133 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|RNA binding 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCCCCAGCTTCTCGCATGTGA 0.507 NaN 0 0 0 0.01441 0 45 149 VPS33A 65082 broad.mit.edu 37 12 122723263 122723263 + Silent SNP A A G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr12:122723263A>G uc001ucd.2 - 10 1286 c.1173T>C c.(1171-1173)AAT>AAC p.N391N VPS33A_uc001ucc.2_RNA NM_022916 NP_075067 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33A 391 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding skin(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) CCTCAATGTAATTGTTGACCT 0.259 NaN 0 0 0 0.01441 0 53 114 RIMBP2 23504 broad.mit.edu 37 12 130926783 130926783 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr12:130926783C>T uc001uil.2 - 8 1227 c.1063G>A c.(1063-1065)GAG>AAG p.E355K RIMBP2_uc001uim.2_Missense_Mutation_p.E263K|RIMBP2_uc001uin.1_Missense_Mutation_p.E14K NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 355 Fibronectin type-III 1. cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TTGAGCTTCTCGATGAGGGCT 0.612 NaN 0 0 0 0.006122 0 14 72 OR4K2 390431 broad.mit.edu 37 14 20345191 20345191 + Silent SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr14:20345191C>T uc001vwh.1 + 1 765 c.765C>T c.(763-765)ATC>ATT p.I255I NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, 255 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGCCATGCATCTTCATCTACA 0.408 NaN 0 0 0 0.00278 0 21 92 PROX2 283571 broad.mit.edu 37 14 75330507 75330507 + Nonsense_Mutation SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr14:75330507G>A uc001xqr.1 - 1 31 c.31C>T c.(31-33)CAG>TAG p.Q11* PROX2_uc001xqq.1_5'UTR NM_001080408 NP_001073877 Q3B8N5 PROX2_HUMAN prospero homeobox 2 11 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) ATCTGGGGCTGAGGAGAAAGC 0.542 NaN 0 0 0 0.007291 0 22 69 C14orf179 112752 broad.mit.edu 37 14 76548711 76548711 + Splice_Site SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr14:76548711G>A uc010asm.1 + 6 402 c.368_splice c.e6+1 p.S123_splice C14orf179_uc001xsf.2_RNA|C14orf179_uc010asl.1_Silent_p.R123R|C14orf179_uc001xsg.2_Splice_Site_p.S128_splice|C14orf179_uc010tve.1_Splice_Site NM_001102564 NP_001096034 Q96FT9 IFT43_HUMAN hypothetical protein LOC112752 isoform 2 cilium morphogenesis|intraflagellar retrograde transport 0 BRCA - Breast invasive adenocarcinoma(234;0.0199) CCCCTCCCAGGTAGGTTAAAT 0.453 NaN 0 0 0 0.01441 0 84 217 DICER1 23405 broad.mit.edu 37 14 95590756 95590756 + Missense_Mutation SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr14:95590756G>A uc001ydw.2 - 9 1335 c.1153C>T c.(1153-1155)CGC>TGC p.R385C DICER1_uc001ydv.2_Missense_Mutation_p.R375C|DICER1_uc001ydx.2_Missense_Mutation_p.R385C NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 385 Required for interaction with PRKRA and TARBP2. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) TTATATTTGCGTAAGATTTCG 0.378 NaN Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 0 0 0 0.00874 0 39 56 AQR 9716 broad.mit.edu 37 15 35202345 35202345 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr15:35202345C>T uc001ziv.2 - 17 1835 c.1654G>A c.(1654-1656)GAA>AAA p.E552K NM_014691 NP_055506 O60306 AQR_HUMAN aquarius 552 catalytic step 2 spliceosome RNA binding large_intestine(1) 1 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) CCTTCCCATTCATCTTTGATG 0.368 NaN 0 0 0 0.01441 0 45 104 KIAA0101 9768 broad.mit.edu 37 15 64669028 64669028 + Missense_Mutation SNP G G C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr15:64669028G>C uc002ank.2 - 3 336 c.204C>G c.(202-204)TTC>TTG p.F68L KIAA0101_uc002anl.2_Intron NM_014736 NP_055551 Q15004 PAF_HUMAN hypothetical protein LOC9768 isoform 1 68 F->A: Loss of binding to PCNA. mitochondrion|nucleus central_nervous_system(1) 1 ACAACCTAAAGAATTCTCCAA 0.403 NaN 0 0 0 0.013726 0 32 21 STARD5 80765 broad.mit.edu 37 15 81605711 81605711 + Missense_Mutation SNP G G T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr15:81605711G>T uc002bgm.2 - 6 612 c.528C>A c.(526-528)TTC>TTA p.F176L STARD5_uc002bgn.2_Missense_Mutation_p.F69L NM_181900 NP_871629 Q9NSY2 STAR5_HUMAN StAR-related lipid transfer protein 5 176 START. C21-steroid hormone biosynthetic process|lipid transport cytosol lipid binding ovary(1) 1 GGTCGGTATGGAAGAATGTGA 0.567 NaN 1 0 1.67211e-32 0.01441 1.84242e-32 42 96 AEN 64782 broad.mit.edu 37 15 89169733 89169733 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr15:89169733C>T uc002bmt.2 + 2 444 c.293C>T c.(292-294)GCT>GTT p.A98V AEN_uc010bnl.2_Missense_Mutation_p.A98V|AEN_uc010bnm.1_Missense_Mutation_p.A98V NM_022767 NP_073604 Q8WTP8 AEN_HUMAN interferon stimulated exonuclease gene 98 apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation nucleolus|nucleoplasm exonuclease activity|nucleic acid binding 0 AGAAGGCCTGCTCCCGGGAAA 0.662 NaN 0 0 0 0.006122 0 16 47 NOXO1 124056 broad.mit.edu 37 16 2029284 2029284 + Silent SNP C C G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr16:2029284C>G uc002cnx.2 - 8 904 c.900G>C c.(898-900)CTG>CTC p.L300L NOXO1_uc002cnz.2_Silent_p.L294L|NOXO1_uc002coa.2_Silent_p.L299L|NOXO1_uc002cny.2_Silent_p.L295L NM_172168 NP_751908 Q8NFA2 NOXO1_HUMAN NADPH oxidase organizer 1 isoform c 300 cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst NADPH oxidase complex enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity 0 CCGTCCCGCTCAGGAGAGCGC 0.776 NaN 0 0 0 0.000602 0 3 2 NOXO1 124056 broad.mit.edu 37 16 2029448 2029448 + Missense_Mutation SNP C C G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr16:2029448C>G uc002cnx.2 - 7 815 c.811G>C c.(811-813)GAC>CAC p.D271H NOXO1_uc002cnz.2_Missense_Mutation_p.D265H|NOXO1_uc002coa.2_Missense_Mutation_p.D270H|NOXO1_uc002cny.2_Missense_Mutation_p.D266H NM_172168 NP_751908 Q8NFA2 NOXO1_HUMAN NADPH oxidase organizer 1 isoform c 271 SH3 2. cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst NADPH oxidase complex enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity 0 CAGCCGCGGTCTGACGTTTCC 0.721 NaN 0 0 0 0.004672 0 3 14 ZNF19 7567 broad.mit.edu 37 16 71509173 71509173 + Missense_Mutation SNP G G T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr16:71509173G>T uc010cgc.1 - 6 1783 c.1277C>A c.(1276-1278)TCC>TAC p.S426Y ZNF23_uc002fai.2_Intron|ZNF19_uc002fak.1_Missense_Mutation_p.S414Y|ZNF19_uc002fal.1_Missense_Mutation_p.S414Y|ZNF19_uc002fam.1_Missense_Mutation_p.S426Y NM_006961 NP_008892 P17023 ZNF19_HUMAN zinc finger protein 19 426 C2H2-type 10; atypical. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(137;0.00965) BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598) ACCTAGCTGGGAAGAAGTCCC 0.328 NaN 1 0 0.00448238 0.004482 0.00457857 9 31 DHX38 9785 broad.mit.edu 37 16 72138398 72138398 + Missense_Mutation SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr16:72138398G>A uc002fcb.2 + 15 2379 c.2024G>A c.(2023-2025)CGC>CAC p.R675H DHX38_uc010vmp.1_Intron NM_014003 NP_054722 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 675 Helicase ATP-binding. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 Ovarian(137;0.125) GTGGCTCGGCGCTCAGACCTG 0.612 NaN 0 0 0 0.008291 0 8 28 PLCG2 5336 broad.mit.edu 37 16 81914556 81914556 + Silent SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr16:81914556G>A uc002fgt.2 + 8 842 c.690G>A c.(688-690)CTG>CTA p.L230L PLCG2_uc010chg.1_Silent_p.L230L NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 230 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 TGTTCATCCTGGGGTGAGGCA 0.537 NaN 0 0 0 0.01441 0 68 102 SMTNL2 342527 broad.mit.edu 37 17 4497118 4497118 + Missense_Mutation SNP G G C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr17:4497118G>C uc002fyf.1 + 4 799 c.732G>C c.(730-732)GAG>GAC p.E244D SMTNL2_uc002fye.2_Missense_Mutation_p.E100D NM_001114974 NP_001108446 Q2TAL5 SMTL2_HUMAN smoothelin-like 2 isoform 1 244 0 READ - Rectum adenocarcinoma(115;0.0325) CTTCCACAGAGAAGAATTCCT 0.577 NaN 0 0 0 0.013537 0 10 71 SLC47A1 55244 broad.mit.edu 37 17 19451306 19451306 + Silent SNP G G C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr17:19451306G>C uc002gvy.1 + 4 401 c.315G>C c.(313-315)GGG>GGC p.G105G SLC47A1_uc010vyy.1_RNA|SLC47A1_uc002gvx.2_Silent_p.G105G|SLC47A1_uc010vyz.1_Silent_p.G82G|SLC47A1_uc010cqp.1_Silent_p.G105G|SLC47A1_uc010cqq.1_5'UTR NM_018242 NP_060712 Q96FL8 S47A1_HUMAN solute carrier family 47, member 1 105 Cytoplasmic (Potential). integral to membrane|plasma membrane drug:hydrogen antiporter activity 0 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) AGACGTACGGGAGCCAGAACC 0.592 NaN 0 0 0 0.00278 0 23 37 LGALS9 3965 broad.mit.edu 37 17 25967775 25967775 + Silent SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr17:25967775C>T uc002gzp.2 + 3 427 c.309C>T c.(307-309)TTC>TTT p.F103F LGALS9_uc002gzq.2_Silent_p.F103F|LGALS9_uc002gzr.2_Silent_p.F46F|LGALS9_uc010waa.1_Silent_p.F46F|LGALS9_uc002gzs.2_Silent_p.F103F NM_009587 NP_033665 O00182 LEG9_HUMAN galectin-9 isoform long 103 Galectin 1. positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region galactose binding|signal transducer activity 0 Lung NSC(42;0.0103) BRCA - Breast invasive adenocarcinoma(3;0.0141) UCEC - Uterine corpus endometrioid carcinoma (53;0.155) ACCTCTGCTTCCTGGTGCAGA 0.572 NaN 0 0 0 0.009535 0 30 57 PHF12 57649 broad.mit.edu 37 17 27237353 27237353 + Silent SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr17:27237353G>A uc002hdg.1 - 11 2780 c.2250C>T c.(2248-2250)ATC>ATT p.I750I PHF12_uc010wbb.1_Silent_p.I732I|PHF12_uc002hdi.1_Silent_p.I746I|PHF12_uc002hdh.1_Silent_p.I533I NM_001033561 NP_001028733 Q96QT6 PHF12_HUMAN PHD finger protein 12 isoform 1 750 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding ovary(1) 1 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) CCAGAAACTTGATCAGCTTCT 0.493 NaN 0 0 0 0.01441 0 103 5 PHF12 57649 broad.mit.edu 37 17 27254016 27254016 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr17:27254016C>T uc002hdg.1 - 3 844 c.314G>A c.(313-315)CGC>CAC p.R105H PHF12_uc010wbb.1_Missense_Mutation_p.R87H|PHF12_uc002hdi.1_Missense_Mutation_p.R101H|PHF12_uc002hdj.1_Missense_Mutation_p.R105H|PHF12_uc010crw.1_5'UTR|PHF12_uc002hdk.1_Missense_Mutation_p.R101H|uc002hdl.2_Intron|PHF12_uc002hdh.1_5'Flank NM_001033561 NP_001028733 Q96QT6 PHF12_HUMAN PHD finger protein 12 isoform 1 105 PHD-type 1.|Interaction with SIN3A. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding ovary(1) 1 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) TACCTTTCGGCGAACAGTGCA 0.493 NaN 0 0 0 0.005443 0 23 125 CPD 1362 broad.mit.edu 37 17 28776730 28776730 + Silent SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr17:28776730C>T uc002hfb.1 + 13 3048 c.3033C>T c.(3031-3033)CTC>CTT p.L1011L CPD_uc010wbo.1_Silent_p.L764L|CPD_uc010wbp.1_Intron NM_001304 NP_001295 O75976 CBPD_HUMAN carboxypeptidase D precursor 1011 Extracellular (Potential).|Carboxypeptidase-like 3. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding liver(1)|skin(1) 2 CAGAATTTCTCTGCCTGAACT 0.428 NaN 0 0 0 0.01441 0 124 93 ACACA 31 broad.mit.edu 37 17 35506883 35506883 + Missense_Mutation SNP T T C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr17:35506883T>C uc002hnm.2 - 45 5664 c.5473A>G c.(5473-5475)ATT>GTT p.I1825V ACACA_uc002hnk.2_Missense_Mutation_p.I1747V|ACACA_uc002hnl.2_Missense_Mutation_p.I1767V|ACACA_uc002hnn.2_Missense_Mutation_p.I1825V|ACACA_uc002hno.2_Missense_Mutation_p.I1862V|ACACA_uc010cuy.2_Missense_Mutation_p.I470V|ACACA_uc010wdc.1_5'UTR NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 1825 Carboxyltransferase. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CCAATCCCAATGGCCCGGCAC 0.428 NaN 0 0 0 0.003954 0 26 62 KRT35 3886 broad.mit.edu 37 17 39635732 39635732 + Missense_Mutation SNP C C G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr17:39635732C>G uc002hws.2 - 3 621 c.578G>C c.(577-579)CGG>CCG p.R193P NM_002280 NP_002271 Q92764 KRT35_HUMAN keratin 35 193 Rod.|Coil 1B. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity ovary(1)|skin(1) 2 Breast(137;0.000286) CACCAGCTGCCGCAGGGACAC 0.587 NaN 0 0 0 0.01441 0 79 76 KIAA1267 284058 broad.mit.edu 37 17 44144914 44144914 + Splice_Site SNP C C A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr17:44144914C>A uc002ikb.2 - 4 1737 c.1652_splice c.e4+1 p.T551_splice KIAA1267_uc002ikc.2_Splice_Site_p.T551_splice|KIAA1267_uc002ikd.2_Splice_Site_p.T551_splice|KIAA1267_uc010dav.2_Splice_Site_p.T551_splice NM_015443 NP_056258 Q7Z3B3 K1267_HUMAN hypothetical protein LOC284058 MLL1 complex protein binding skin(2) 2 Melanoma(429;0.211) CTAAAACTTACGTGTTAATAA 0.413 NaN 1 0 6.17242e-35 0.01441 6.83272e-35 43 48 RSAD1 55316 broad.mit.edu 37 17 48561095 48561095 + Missense_Mutation SNP C C T rs148371199 TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr17:48561095C>T uc002iqw.1 + 7 1137 c.1081C>T c.(1081-1083)CGC>TGC p.R361C RSAD1_uc010wmq.1_Intron NM_018346 NP_060816 Q9HA92 RSAD1_HUMAN radical S-adenosyl methionine domain containing 361 porphyrin biosynthetic process mitochondrion 4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding 0 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) CCTGGGGCTACGCACCGATGT 0.537 NaN 0 0 0 0.003163 0 12 53 MKS1 54903 broad.mit.edu 37 17 56283666 56283666 + Missense_Mutation SNP C C G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr17:56283666C>G uc002ivr.1 - 17 1641 c.1566G>C c.(1564-1566)CAG>CAC p.Q522H MKS1_uc010wnq.1_Missense_Mutation_p.Q319H|MKS1_uc002ivs.1_Missense_Mutation_p.R450T NM_017777 NP_060247 Q9NXB0 MKS1_HUMAN Meckel syndrome type 1 protein isoform 1 522 cilium assembly centrosome|cilium|microtubule basal body protein binding ovary(1) 1 GAATGGAACTCTGCTGGCTGA 0.562 NaN 0 0 0 0.01441 0 52 170 TBX2 6909 broad.mit.edu 37 17 59480480 59480480 + Missense_Mutation SNP A A G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr17:59480480A>G uc010wox.1 + 3 1003 c.722A>G c.(721-723)GAC>GGC p.D241G TBX2_uc002ize.2_Missense_Mutation_p.D231G|TBX2_uc002izg.2_Missense_Mutation_p.D87G NM_005994 NP_005985 Q13207 TBX2_HUMAN T-box 2 241 T-box. cell aging|positive regulation of cell proliferation sequence-specific DNA binding 0 CGAGCCAACGACATCCTGAAG 0.632 NaN 0 0 0 0.003755 0 32 80 STRADA 92335 broad.mit.edu 37 17 61787907 61787907 + Silent SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr17:61787907G>A uc002jbm.2 - 8 684 c.525C>T c.(523-525)ATC>ATT p.I175I STRADA_uc002jbn.2_Silent_p.I117I|STRADA_uc002jbo.2_Silent_p.I138I|STRADA_uc002jbp.2_Silent_p.I138I|STRADA_uc002jbq.2_Silent_p.I117I|STRADA_uc010wpq.1_Silent_p.I131I|STRADA_uc010wpr.1_Silent_p.I146I|STRADA_uc010ddw.2_Silent_p.I146I|STRADA_uc002jbr.2_Silent_p.I117I NM_001003787 NP_001003787 Q7RTN6 STRAA_HUMAN STE20-related kinase adaptor alpha isoform 1 175 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|kinase binding|protein kinase activity ovary(1) 1 CCCCCTGCAGGATGTAAGCAA 0.502 NaN 0 0 0 0.006122 0 15 43 BPTF 2186 broad.mit.edu 37 17 65942274 65942274 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr17:65942274C>T uc002jgf.2 + 21 7511 c.7450C>T c.(7450-7452)CAC>TAC p.H2484Y BPTF_uc002jge.2_Intron|BPTF_uc002jgg.2_Intron|BPTF_uc002jgh.2_5'Flank NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2610 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TGTGCAGACTCACCAGATTCA 0.493 NaN 0 0 0 0.014323 0 19 64 SRP68 6730 broad.mit.edu 37 17 74037019 74037019 + Missense_Mutation SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr17:74037019G>A uc002jqk.1 - 14 1600 c.1565C>T c.(1564-1566)TCA>TTA p.S522L SRP68_uc010wsu.1_Missense_Mutation_p.S421L|SRP68_uc002jql.1_Missense_Mutation_p.S484L|SRP68_uc002jqj.1_Missense_Mutation_p.S183L NM_014230 NP_055045 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 522 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding ovary(1) 1 GCACTTCTCTGACCGCACTTG 0.582 NaN 0 0 0 0.01441 0 68 80 MC5R 4161 broad.mit.edu 37 18 13826367 13826367 + Silent SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr18:13826367G>A uc010xaf.1 + 1 603 c.603G>A c.(601-603)CTG>CTA p.L201L NM_005913 NP_005904 P33032 MC5R_HUMAN melanocortin 5 receptor 201 Helical; Name=5; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding ovary(3)|lung(2)|breast(1) 6 TGTTCCTCCTGGTGTCTCTGT 0.587 NaN 0 0 0 0.01441 0 174 519 OSBPL1A 114876 broad.mit.edu 37 18 21948276 21948276 + Missense_Mutation SNP C C A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr18:21948276C>A uc002kve.2 - 3 356 c.182G>T c.(181-183)AGA>ATA p.R61I NM_080597 NP_542164 Q9BXW6 OSBL1_HUMAN oxysterol-binding protein-like 1A isoform B 61 ANK 1. cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding ovary(4) 4 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) GACCACTTGTCTGTGTCCAAA 0.318 NaN 1 0 2.14674e-31 0.01441 2.34369e-31 38 77 FECH 2235 broad.mit.edu 37 18 55221549 55221549 + Missense_Mutation SNP G G T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr18:55221549G>T uc002lgq.3 - 9 1137 c.1020C>A c.(1018-1020)GAC>GAA p.D340E FECH_uc002lgp.3_Missense_Mutation_p.D346E|FECH_uc002lgr.3_Missense_Mutation_p.D198E NM_000140 NP_000131 P22830 HEMH_HUMAN ferrochelatase isoform b precursor 340 generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus mitochondrial inner membrane|mitochondrial matrix 2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding central_nervous_system(1) 1 Colorectal(73;0.227) TTTCAATATGGTCACTGGTAA 0.453 NaN 1 0 2.61193e-14 0.009535 2.7385e-14 31 180 MED16 10025 broad.mit.edu 37 19 886012 886012 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr19:886012C>T uc002lqd.1 - 5 788 c.637G>A c.(637-639)GTG>ATG p.V213M MED16_uc010drw.1_Missense_Mutation_p.V38M|MED16_uc002lqe.2_Missense_Mutation_p.V202M|MED16_uc002lqf.2_Missense_Mutation_p.V202M|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.V202M|MED16_uc010xfx.1_Intron|MED16_uc010xfy.1_Intron NM_005481 NP_005472 Q9Y2X0 MED16_HUMAN mediator complex subunit 16 213 WD 2. androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCAGGGCCACGCGGCCGCGC 0.716 NaN 0 0 0 0.004672 0 3 18 DOT1L 84444 broad.mit.edu 37 19 2191089 2191089 + Missense_Mutation SNP T T A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 T A T T Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr19:2191089T>A uc002lvb.3 + 5 379 c.343T>A c.(343-345)TAC>AAC p.Y115N NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 115 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCAGCAGGTCTACAACCACTC 0.642 NaN 0 0 0 0.013537 0 13 10 SAFB2 9667 broad.mit.edu 37 19 5600272 5600272 + Splice_Site SNP C C G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr19:5600272C>G uc002mcd.2 - 12 1772 c.1560_splice c.e12-1 p.K520_splice NM_014649 NP_055464 Q14151 SAFB2_HUMAN scaffold attachment factor B2 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding 0 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) AATTACAGTTCTATTTAAAGA 0.413 NaN 0 0 0 0.000602 0 4 19 CCDC151 115948 broad.mit.edu 37 19 11537068 11537068 + Missense_Mutation SNP C C G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr19:11537068C>G uc002mrs.2 - 7 1002 c.859G>C c.(859-861)GAG>CAG p.E287Q CCDC151_uc002mrr.2_Missense_Mutation_p.E222Q|CCDC151_uc010dxz.2_Missense_Mutation_p.E227Q NM_145045 NP_659482 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 287 Potential. ovary(1) 1 AAGGTCTCCTCTAGGTACTGC 0.622 NaN 0 0 0 0.006214 0 8 33 C19orf56 51398 broad.mit.edu 37 19 12779345 12779345 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr19:12779345C>T uc002mud.2 - 3 491 c.243G>A c.(241-243)ATG>ATA p.M81I MAN2B1_uc002mub.2_5'Flank|MAN2B1_uc010dyv.1_5'Flank|WDR83_uc002mue.3_5'UTR|WDR83_uc002muc.2_RNA|WDR83_uc010dyw.2_5'Flank NM_016145 NP_057229 Q9Y284 CS056_HUMAN hypothetical protein LOC51398 81 Helical; (Potential). integral to membrane 0 TGAAGCTACTCATCATTTGCT 0.537 NaN 0 0 0 0.00278 0 19 33 C19orf56 51398 broad.mit.edu 37 19 12779348 12779348 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr19:12779348C>T uc002mud.2 - 3 488 c.240G>A c.(238-240)ATG>ATA p.M80I MAN2B1_uc002mub.2_5'Flank|MAN2B1_uc010dyv.1_5'Flank|WDR83_uc002mue.3_5'UTR|WDR83_uc002muc.2_RNA|WDR83_uc010dyw.2_5'Flank NM_016145 NP_057229 Q9Y284 CS056_HUMAN hypothetical protein LOC51398 80 Helical; (Potential). integral to membrane 0 AGCTACTCATCATTTGCTTCG 0.542 NaN 0 0 0 0.00333 0 19 34 C19orf56 51398 broad.mit.edu 37 19 12779429 12779429 + Silent SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr19:12779429C>T uc002mud.2 - 3 407 c.159G>A c.(157-159)CTG>CTA p.L53L MAN2B1_uc002mub.2_5'Flank|MAN2B1_uc010dyv.1_5'Flank|WDR83_uc002mue.3_5'UTR|WDR83_uc002muc.2_RNA|WDR83_uc010dyw.2_5'Flank NM_016145 NP_057229 Q9Y284 CS056_HUMAN hypothetical protein LOC51398 53 Helical; (Potential). integral to membrane 0 CACACCACTTCAGCTAGGGAA 0.522 NaN 0 0 0 0.007413 0 15 37 IL27RA 9466 broad.mit.edu 37 19 14150702 14150702 + Nonsense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr19:14150702C>T uc002mxx.2 + 4 937 c.514C>T c.(514-516)CAG>TAG p.Q172* NM_004843 NP_004834 Q6UWB1 I27RA_HUMAN class I cytokine receptor precursor 172 Extracellular (Potential).|Fibronectin type-III 1. cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity 0 CCGAAGATGTCAGGAGGCGGC 0.587 NaN 0 0 0 0.013114 0 34 230 SLC25A42 284439 broad.mit.edu 37 19 19216402 19216402 + Silent SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr19:19216402C>T uc002nlf.1 + 5 397 c.246C>T c.(244-246)CTC>CTT p.L82L SLC25A42_uc010xqn.1_Silent_p.L134L NM_178526 NP_848621 Q86VD7 S2542_HUMAN solute carrier family 25, member 42 82 Solcar 1. transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497) ACACCTACCTCAACGAGGGAT 0.627 NaN 0 0 0 0.012319 0 18 37 SLC25A42 284439 broad.mit.edu 37 19 19217162 19217162 + Silent SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr19:19217162C>T uc002nlf.1 + 6 616 c.465C>T c.(463-465)GTC>GTT p.V155V SLC25A42_uc010xqn.1_Silent_p.V207V NM_178526 NP_848621 Q86VD7 S2542_HUMAN solute carrier family 25, member 42 155 Helical; Name=3; (Potential).|Solcar 2. transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497) TGGACCTGGTCAGAGCGCGGA 0.662 NaN 0 0 0 0.003954 0 25 62 PLAUR 5329 broad.mit.edu 37 19 44169569 44169569 + Nonsense_Mutation SNP G G T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr19:44169569G>T uc002oxf.1 - 3 439 c.209C>A c.(208-210)TCA>TAA p.S70* PLAUR_uc002oxd.1_Nonsense_Mutation_p.S70*|PLAUR_uc002oxe.1_Nonsense_Mutation_p.S65*|PLAUR_uc002oxg.1_Nonsense_Mutation_p.S70* NM_002659 NP_002650 Q03405 UPAR_HUMAN plasminogen activator, urokinase receptor 70 UPAR/Ly6 1. attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane enzyme binding|U-plasminogen activator receptor activity ovary(1) 1 Prostate(69;0.0153) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013) GGTCTTCTCTGAGTGGGTACA 0.542 NaN 1 0 1.8453e-21 0.010771 1.96942e-21 33 61 ZNF226 7769 broad.mit.edu 37 19 44681738 44681738 + Missense_Mutation SNP A A G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr19:44681738A>G uc002oyp.2 + 6 2467 c.2323A>G c.(2323-2325)AGA>GGA p.R775G ZNF226_uc002oyq.2_Missense_Mutation_p.R658G|ZNF226_uc002oyr.2_Missense_Mutation_p.R658G|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Missense_Mutation_p.R775G|ZNF226_uc002oyt.2_Missense_Mutation_p.R775G NM_001032373 NP_001027545 Q9NYT6 ZN226_HUMAN zinc finger protein 226 isoform a 775 C2H2-type 19. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352)|all_neural(266;0.202) AGTTCATCACAGAATCCATGT 0.368 NaN 0 0 0 0.000602 0 5 56 SPHK2 56848 broad.mit.edu 37 19 49132307 49132307 + Silent SNP A A C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr19:49132307A>C uc002pjr.2 + 7 1608 c.1242A>C c.(1240-1242)TCA>TCC p.S414S SPHK2_uc010xzt.1_Silent_p.S355S|SPHK2_uc002pjs.2_Silent_p.S414S|SPHK2_uc002pjt.2_Silent_p.S208S|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Silent_p.S378S|SPHK2_uc002pjw.2_Silent_p.S476S NM_020126 NP_064511 Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 414 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity lung(1) 1 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) tggcccactcacccctgcatc 0.338 NaN 0 0 0 0.001984 0 5 20 HSD17B14 51171 broad.mit.edu 37 19 49334931 49334931 + Silent SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr19:49334931C>T uc002pkv.1 - 5 629 c.363G>A c.(361-363)TTG>TTA p.L121L HSD17B14_uc010emk.1_Silent_p.L121L NM_016246 NP_057330 Q9BPX1 DHB14_HUMAN dehydrogenase/reductase (SDR family) member 10 121 steroid catabolic process centrosome|cytosol estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity 0 all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346) TCACCTTGGTCAAGGTGTACG 0.587 NaN 0 0 0 0.006999 0 36 95 ZNF615 284370 broad.mit.edu 37 19 52496893 52496893 + Missense_Mutation SNP G G C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr19:52496893G>C uc002pye.1 - 6 1728 c.1436C>G c.(1435-1437)ACT>AGT p.T479S ZNF615_uc002pyf.1_Missense_Mutation_p.T490S|ZNF615_uc002pyg.1_Missense_Mutation_p.T371S|ZNF615_uc002pyh.1_Missense_Mutation_p.T490S|ZNF615_uc010epi.1_Missense_Mutation_p.T486S|ZNF615_uc010ydg.1_Missense_Mutation_p.T484S NM_198480 NP_940882 Q8N8J6 ZN615_HUMAN zinc finger protein 615 479 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) CTTCTCTGCAGTATGAGTTCG 0.438 NaN 0 0 0 0.004672 0 3 20 NLRP4 147945 broad.mit.edu 37 19 56369402 56369402 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr19:56369402C>T uc002qmd.3 + 3 1065 c.643C>T c.(643-645)CCT>TCT p.P215S NLRP4_uc002qmf.2_Missense_Mutation_p.P140S|NLRP4_uc010etf.2_Missense_Mutation_p.P46S NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 215 NACHT. ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CCCCGCTGCTCCTATAACAGA 0.537 NaN 0 0 0 0.005524 0 34 80 ZNF776 284309 broad.mit.edu 37 19 58265972 58265972 + Missense_Mutation SNP G G C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr19:58265972G>C uc002qpx.2 + 3 1697 c.1474G>C c.(1474-1476)GAA>CAA p.E492Q ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Missense_Mutation_p.E492Q NM_173632 NP_775903 Q68DI1 ZN776_HUMAN zinc finger protein 776 492 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256) TGAGTGTGGAGAATGTGGAAA 0.428 NaN 0 0 0 0.010818 0 29 68 APOB 338 broad.mit.edu 37 2 21258577 21258577 + Missense_Mutation SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr2:21258577G>A uc002red.2 - 7 825 c.697C>T c.(697-699)CGC>TGC p.R233C NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 233 Vitellogenin.|Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GACAAGGGGCGGGTCTATGAA 0.498 NaN 0 0 0 0.00632 0 23 29 DHX57 90957 broad.mit.edu 37 2 39085813 39085813 + Missense_Mutation SNP C C G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr2:39085813C>G uc002rrf.2 - 6 1676 c.1577G>C c.(1576-1578)CGA>CCA p.R526P DHX57_uc002rre.2_5'UTR|DHX57_uc002rrg.2_Missense_Mutation_p.R526P NM_198963 NP_945314 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 526 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 all_hematologic(82;0.248) CTGTTTCATTCGGAACTGCTT 0.408 NaN 0 0 0 0.01441 0 63 295 FOXN2 3344 broad.mit.edu 37 2 48602364 48602364 + Missense_Mutation SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr2:48602364G>A uc002rwh.1 + 7 1393 c.1078G>A c.(1078-1080)GAT>AAT p.D360N NM_002158 NP_002149 P32314 FOXN2_HUMAN T-cell leukemia virus enhancer factor 360 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036) TTATGAAGATGATCCTCTTGG 0.413 NaN 0 0 0 0.014323 0 21 74 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48874053 48874053 + Missense_Mutation SNP C C G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr2:48874053C>G uc010yol.1 + 5 2868 c.2821C>G c.(2821-2823)CAT>GAT p.H941D STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.H988D|GTF2A1L_uc002rws.1_Missense_Mutation_p.H284D|GTF2A1L_uc010yom.1_Missense_Mutation_p.H250D|GTF2A1L_uc002rwt.2_Missense_Mutation_p.H284D NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 941 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CACAAGCCCTCATGGGGCTCT 0.438 NaN 0 0 0 0.00499 0 14 55 LHCGR 3973 broad.mit.edu 37 2 48925887 48925887 + Missense_Mutation SNP T T C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr2:48925887T>C uc002rwu.3 - 9 803 c.733A>G c.(733-735)ATT>GTT p.I245V GTF2A1L_uc002rwt.2_Intron|LHCGR_uc002rwv.2_RNA NM_000233 NP_000224 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 245 Extracellular (Potential). male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity ovary(3)|lung(2)|breast(2)|skin(1) 8 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) AGCCTCTGAATGGACTCTAGG 0.413 NaN Familial_Male-Limited_Precocious_Puberty 0 0 0 0.003271 0 29 45 ELMOD3 84173 broad.mit.edu 37 2 85604471 85604471 + Silent SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr2:85604471G>A uc002spf.3 + 12 1277 c.612G>A c.(610-612)GCG>GCA p.A204A ELMOD3_uc010fgg.2_RNA|ELMOD3_uc002spg.3_Silent_p.A204A|ELMOD3_uc002sph.3_Silent_p.A204A|ELMOD3_uc010ysn.1_Silent_p.A204A|ELMOD3_uc010yso.1_RNA|ELMOD3_uc010ysp.1_RNA NM_001135021 NP_001128493 Q96FG2 ELMD3_HUMAN ELMO/CED-12 domain containing 3 isoform b 204 ELMO. phagocytosis cytoskeleton ovary(2) 2 TTACAGGAGCGAATCCAGCCA 0.587 NaN 0 0 0 0.00245 0 12 61 UGGT1 56886 broad.mit.edu 37 2 128945037 128945037 + Missense_Mutation SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr2:128945037G>A uc002tps.2 + 40 4669 c.4491G>A c.(4489-4491)ATG>ATA p.M1497I UGGT1_uc002tpr.2_Missense_Mutation_p.M1473I NM_020120 NP_064505 Q9NYU2 UGGG1_HUMAN UDP-glucose ceramide glucosyltransferase-like 1 1497 Glucosyltransferase (By similarity). 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding ovary(1) 1 ATAATCCGATGACCAAAGAGC 0.463 NaN 0 0 0 0.010729 0 10 80 MCM6 4175 broad.mit.edu 37 2 136603937 136603937 + Silent SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr2:136603937C>T uc002tuw.2 - 15 2155 c.2079G>A c.(2077-2079)GTG>GTA p.V693V NM_005915 NP_005906 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 693 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding 0 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) TGATCCCGTTCACAGGAGCAG 0.443 NaN 0 0 0 0.01441 0 154 146 SCN9A 6335 broad.mit.edu 37 2 167056103 167056103 + Silent SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr2:167056103C>T uc010fpl.2 - 27 5354 c.5013G>A c.(5011-5013)GAG>GAA p.E1671E uc002udp.2_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1682 IV. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) TGCCAAAGGTCTCAAAATTGA 0.428 NaN 0 0 0 0.01441 0 61 114 FRZB 2487 broad.mit.edu 37 2 183730874 183730874 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr2:183730874C>T uc002upa.1 - 1 625 c.407G>A c.(406-408)TGC>TAC p.C136Y NM_001463 NP_001454 Q92765 SFRP3_HUMAN frizzled-related protein precursor 136 FZ. brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway cytoplasm|extracellular space|membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231) CAGCTCCTCGCAGGCCAGGTT 0.637 NaN 0 0 0 0.006214 0 9 23 ANKAR 150709 broad.mit.edu 37 2 190554293 190554293 + Missense_Mutation SNP C C G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr2:190554293C>G uc002uqw.1 + 2 429 c.429C>G c.(427-429)ATC>ATG p.I143M ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqv.1_Missense_Mutation_p.I214M NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 214 integral to membrane binding ovary(2)|pancreas(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) TTAATGAAATCTATGATGAAG 0.303 NaN 0 0 0 0.003271 0 28 85 SATB2 23314 broad.mit.edu 37 2 200173580 200173580 + Missense_Mutation SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr2:200173580G>A uc002uuy.1 - 10 2460 c.1643C>T c.(1642-1644)CCC>CTC p.P548L SATB2_uc010fsq.1_Missense_Mutation_p.P430L|SATB2_uc002uuz.1_Missense_Mutation_p.P548L|SATB2_uc002uva.1_Missense_Mutation_p.P548L NM_015265 NP_056080 Q9UPW6 SATB2_HUMAN SATB homeobox 2 548 CUT 2. cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity ovary(1) 1 CTCATGCTGGGGAAGGTTCAG 0.587 NaN 0 0 0 0.007835 0 39 97 NOP58 51602 broad.mit.edu 37 2 203152401 203152401 + Missense_Mutation SNP G G T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr2:203152401G>T uc002uzb.2 + 6 603 c.453G>T c.(451-453)TTG>TTT p.L151F NM_015934 NP_057018 Q9Y2X3 NOP58_HUMAN NOP58 ribonucleoprotein homolog 151 cell growth|rRNA processing|snRNP protein import into nucleus box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex protein binding|snoRNA binding 0 GATATAGATTGAAGTTTAGCG 0.348 NaN 1 0 1.51926e-22 0.01441 1.62875e-22 37 119 MARCH4 57574 broad.mit.edu 37 2 217124125 217124125 + Silent SNP G G T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr2:217124125G>T uc002vgb.2 - 4 2910 c.1143C>A c.(1141-1143)ATC>ATA p.I381I NM_020814 NP_065865 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4 381 Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) GGATGTGCAGGATGGTATAAG 0.627 NaN 1 0 6.29468e-14 0.004878 6.57077e-14 33 41 WNT6 7475 broad.mit.edu 37 2 219736442 219736442 + Silent SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr2:219736442G>A uc002vjc.1 + 3 752 c.537G>A c.(535-537)GGG>GGA p.G179G NM_006522 NP_006513 Q9Y6F9 WNT6_HUMAN wingless-type MMTV integration site family, 179 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity ovary(2)|skin(1) 3 Renal(207;0.0474) Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGGACTTCGGGGACGAGAAGT 0.547 NaN 0 0 0 0.001984 0 5 12 CCDC108 255101 broad.mit.edu 37 2 219886644 219886644 + Silent SNP T T C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr2:219886644T>C uc002vjl.1 - 18 3072 c.2988A>G c.(2986-2988)GAA>GAG p.E996E CCDC108_uc002vjm.3_5'Flank NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 996 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCAGCTCCTTTTCCTTTGCCT 0.597 NaN 0 0 0 0.01441 0 118 19 UGT1A3 54659 broad.mit.edu 37 2 234638530 234638530 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr2:234638530C>T uc002vuy.2 + 1 758 c.758C>T c.(757-759)TCT>TTT p.S253F UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Missense_Mutation_p.S253F NM_019093 NP_061966 P35503 UD13_HUMAN UDP glycosyltransferase 1 family, polypeptide A3 253 flavonoid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding ovary(1) 1 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) AGTCATGCATCTGTGTGGCTG 0.507 NaN 0 0 0 0.00623 0 33 213 CEP250 11190 broad.mit.edu 37 20 34063379 34063379 + Silent SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr20:34063379C>T uc002xcm.2 + 16 2295 c.1624C>T c.(1624-1626)CTG>TTG p.L542L CEP250_uc010zve.1_5'UTR|CEP250_uc010zvd.1_Intron NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 542 Gln/Glu-rich.|Potential. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) ACTCAGTGAACTGATCACTCT 0.552 NaN 0 0 0 0.01441 0 76 199 PRIC285 85441 broad.mit.edu 37 20 62198304 62198304 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr20:62198304C>T uc002yfm.2 - 7 3299 c.2407G>A c.(2407-2409)GAG>AAG p.E803K PRIC285_uc002yfl.1_Missense_Mutation_p.E234K NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 803 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) TGCGCAATCTCAGCCAGATTC 0.662 NaN 0 0 0 0.004289 0 29 137 PRIC285 85441 broad.mit.edu 37 20 62198314 62198314 + Silent SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr20:62198314C>T uc002yfm.2 - 7 3289 c.2397G>A c.(2395-2397)CTG>CTA p.L799L PRIC285_uc002yfl.1_Silent_p.L230L NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 799 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) CAGCCAGATTCAGCCAGGACG 0.672 NaN 0 0 0 0.003271 0 27 131 RIPK4 54101 broad.mit.edu 37 21 43161772 43161772 + Silent SNP G G A rs143300354 TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr21:43161772G>A uc002yzn.1 - 8 1629 c.1581C>T c.(1579-1581)AAC>AAT p.N527N NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 527 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 TGACCGAGGCGTTCTTCTCCA 0.627 NaN 0 0 0 0.010729 0 12 55 GGT1 2678 broad.mit.edu 37 22 25023476 25023476 + Silent SNP C C A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr22:25023476C>A uc003aan.1 + 12 1585 c.1098C>A c.(1096-1098)ATC>ATA p.I366I GGT1_uc003aas.1_Silent_p.I366I|GGT1_uc003aat.1_Silent_p.I366I|GGT1_uc003aau.1_Silent_p.I366I|GGT1_uc003aav.1_Silent_p.I366I|GGT1_uc003aaw.1_Silent_p.I366I|GGT1_uc003aax.1_Silent_p.I366I|GGT1_uc003aay.1_Silent_p.I22I NM_013430 NP_038347 P19440 GGT1_HUMAN gamma-glutamyltransferase 1 precursor 366 Extracellular (Potential). glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding 0 Glutathione(DB00143) CTCACCCGATCTCCTACTACA 0.642 NaN 1 0 6.68952e-21 0.013114 7.10762e-21 35 81 SSTR3 6753 broad.mit.edu 37 22 37603104 37603104 + Missense_Mutation SNP G G A rs146500640 byFrequency TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr22:37603104G>A uc003ara.2 - 2 801 c.739C>T c.(739-741)CGG>TGG p.R247W SSTR3_uc003arb.2_Missense_Mutation_p.R247W NM_001051 NP_001042 P32745 SSR3_HUMAN somatostatin receptor 3 247 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity lung(1) 1 CGCCGCCGCCGCTGGCACGAG 0.672 NaN 0 0 0 0.00333 0 16 31 PMM1 5372 broad.mit.edu 37 22 41982104 41982104 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr22:41982104C>T uc003bal.2 - 2 243 c.181G>A c.(181-183)GAG>AAG p.E61K NM_002676 NP_002667 Q92871 PMM1_HUMAN phosphomannomutase 1 61 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol metal ion binding|phosphomannomutase activity ovary(1) 1 CCCAGCTGCTCAGCGATCTTA 0.567 NaN 0 0 0 0.01441 0 53 129 PMM1 5372 broad.mit.edu 37 22 41982185 41982185 + Missense_Mutation SNP C C G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr22:41982185C>G uc003bal.2 - 2 162 c.100G>C c.(100-102)GAG>CAG p.E34Q NM_002676 NP_002667 Q92871 PMM1_HUMAN phosphomannomutase 1 34 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol metal ion binding|phosphomannomutase activity ovary(1) 1 GCGGCCACCTCAGGGTCAATT 0.562 NaN 0 0 0 0.01441 0 43 149 ITPR1 3708 broad.mit.edu 37 3 4712527 4712527 + Missense_Mutation SNP G G C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr3:4712527G>C uc003bqa.2 + 20 2469 c.2121G>C c.(2119-2121)GAG>GAC p.E707D ITPR1_uc010hca.1_Missense_Mutation_p.E692D|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.E692D NM_001099952 NP_001093422 Q14643 ITPR1_HUMAN inositol 1,4,5-triphosphate receptor, type 1 707 Cytoplasmic (Potential). activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1) 21 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GCAACAAAGAGATTCGCAGCA 0.517 NaN 0 0 0 0.004482 0 9 35 SLC6A6 6533 broad.mit.edu 37 3 14508095 14508095 + Silent SNP G G C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr3:14508095G>C uc010heg.2 + 14 1095 c.804G>C c.(802-804)CCG>CCC p.P268P SLC6A6_uc003byq.2_Silent_p.P268P|SLC6A6_uc003byr.2_RNA NM_001134367 NP_001127839 P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter 268 cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity ovary(1) 1 TGACGCTGCCGGGCGCGGGCG 0.617 NaN 0 0 0 0.004289 0 31 41 NR2C2 7182 broad.mit.edu 37 3 15045491 15045491 + Nonsense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr3:15045491C>T uc003bzj.3 + 2 287 c.70C>T c.(70-72)CAG>TAG p.Q24* NR2C2_uc003bzi.2_Nonsense_Mutation_p.Q24* NM_003298 NP_003289 P49116 NR2C2_HUMAN nuclear receptor subfamily 2, group C, member 2 24 cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding 0 TCAGCGCATTCAGGTACCTGC 0.527 NaN 0 0 0 0.00632 0 23 129 BAP1 8314 broad.mit.edu 37 3 52439230 52439230 + Missense_Mutation SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr3:52439230G>A uc003ddx.2 - 11 1127 c.1012C>T c.(1012-1014)CCT>TCT p.P338S BAP1_uc003ddw.2_5'Flank|BAP1_uc010hmg.2_5'Flank|BAP1_uc010hmh.2_5'Flank NM_004656 NP_004647 Q92560 BAP1_HUMAN BRCA1 associated protein-1 338 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1) 65 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) CTGCCTGGAGGCTTCACCACT 0.587 NaN N|Mis|F|S|O uveal melanoma|breast|NSCLC 0 0 0 0.01441 0 85 106 SEMA3G 56920 broad.mit.edu 37 3 52474095 52474095 + Missense_Mutation SNP G G T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr3:52474095G>T uc003dea.1 - 11 1163 c.1163C>A c.(1162-1164)GCA>GAA p.A388E NM_020163 NP_064548 Q9NS98 SEM3G_HUMAN semaphorin sem2 precursor 388 Sema. multicellular organismal development extracellular region|membrane receptor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) TCCTGGCTGTGCGGTCATCTT 0.622 NaN 1 0 1.15088e-07 0.004007 1.18575e-07 15 20 CADM2 253559 broad.mit.edu 37 3 86115879 86115879 + Missense_Mutation SNP C C G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr3:86115879C>G uc003dqj.2 + 10 1880 c.1254C>G c.(1252-1254)ATC>ATG p.I418M CADM2_uc003dqk.2_Missense_Mutation_p.I387M|CADM2_uc003dql.2_Missense_Mutation_p.I420M|uc003dqm.1_5'Flank NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN immunoglobulin superfamily, member 4D 418 Cytoplasmic (Potential). adherens junction organization|cell junction assembly integral to membrane|plasma membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) CAGCCATTATCAATGCTGAAG 0.393 NaN 0 0 0 0.007291 0 28 36 ZNF80 7634 broad.mit.edu 37 3 113955575 113955575 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr3:113955575C>T uc010hqo.2 - 1 851 c.347G>A c.(346-348)CGC>CAC p.R116H ZNF80_uc003ebf.2_RNA NM_007136 NP_009067 P51504 ZNF80_HUMAN zinc finger protein 80 116 C2H2-type 3; atypical. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Lung NSC(201;0.0233)|all_neural(597;0.0837) GTGCGACCTGCGGTTGAAGAC 0.542 NaN 0 0 0 0.008871 0 16 29 HPS3 84343 broad.mit.edu 37 3 148871395 148871395 + Missense_Mutation SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr3:148871395G>A uc003ewu.1 + 7 1500 c.1360G>A c.(1360-1362)GAA>AAA p.E454K HPS3_uc003ewt.1_Missense_Mutation_p.E454K|HPS3_uc011bnq.1_Missense_Mutation_p.E289K NM_032383 NP_115759 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 protein 454 cytoplasm ovary(5)|large_intestine(1) 6 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) AGCAGAACCTGAAGCCATTCC 0.438 NaN Hermansky-Pudlak_syndrome 0 0 0 0.014323 0 20 57 TXK 7294 broad.mit.edu 37 4 48082134 48082134 + Missense_Mutation SNP T T A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr4:48082134T>A uc003gxx.3 - 11 1054 c.968A>T c.(967-969)CAT>CTT p.H323L TXK_uc010igj.2_RNA|TXK_uc011bzj.1_Missense_Mutation_p.H10L NM_003328 NP_003319 P42681 TXK_HUMAN TXK tyrosine kinase 323 Protein kinase. cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity 0 TAGCTTTGAATGAGATAATTT 0.373 NaN 0 0 0 0.004482 0 8 30 PPEF2 5470 broad.mit.edu 37 4 76797581 76797581 + Silent SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr4:76797581G>A uc003hix.2 - 11 1536 c.1179C>T c.(1177-1179)TCC>TCT p.S393S PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Silent_p.S393S NM_006239 NP_006230 O14830 PPE2_HUMAN serine/threonine protein phosphatase with 393 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity ovary(2)|lung(1)|central_nervous_system(1) 4 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CCAGTTCCACGGAGCTCCGCA 0.657 NaN 0 0 0 0.004007 0 15 21 ANK2 287 broad.mit.edu 37 4 114284603 114284603 + Silent SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr4:114284603G>A uc003ibe.3 + 40 10966 c.10866G>A c.(10864-10866)GAG>GAA p.E3622E ANK2_uc003ibd.3_Silent_p.E1528E|ANK2_uc003ibf.3_Silent_p.E1537E|ANK2_uc011cgc.1_Silent_p.E713E|ANK2_uc003ibg.3_Silent_p.E521E|ANK2_uc003ibh.3_Silent_p.E211E|ANK2_uc011cgd.1_Silent_p.E924E NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 3589 Death. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ACTGGCTAGAGAGGGATGGGA 0.428 NaN 0 0 0 0.012319 0 17 123 FGG 2266 broad.mit.edu 37 4 155531252 155531252 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr4:155531252C>T uc003ioj.2 - 5 640 c.499G>A c.(499-501)GAC>AAC p.D167N FGG_uc003iog.2_Missense_Mutation_p.D167N|FGG_uc003ioh.2_Missense_Mutation_p.D167N|FGG_uc010ipx.2_Intron|FGG_uc010ipy.2_Intron|FGG_uc003ioi.2_5'UTR|FGG_uc003iok.2_Missense_Mutation_p.D167N NM_021870 NP_068656 P02679 FIBG_HUMAN fibrinogen, gamma chain isoform gamma-B 167 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding 0 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) TGCACCGTGTCTTTGCAAGGT 0.363 NaN 0 0 0 0.004878 0 33 47 CCDC110 256309 broad.mit.edu 37 4 186380148 186380148 + Silent SNP T T C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr4:186380148T>C uc003ixu.3 - 6 1669 c.1593A>G c.(1591-1593)CAA>CAG p.Q531Q CCDC110_uc003ixv.3_Silent_p.Q494Q|CCDC110_uc011ckt.1_Silent_p.Q531Q NM_152775 NP_689988 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 isoform a 531 Potential. nucleus central_nervous_system(1) 1 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) CTAAAGAAAGTTGTATATTTT 0.264 NaN 0 0 0 0.014323 0 23 8 IRX1 79192 broad.mit.edu 37 5 3600252 3600252 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr5:3600252C>T uc003jde.2 + 2 1242 c.1190C>T c.(1189-1191)CCC>CTC p.P397L NM_024337 NP_077313 P78414 IRX1_HUMAN iroquois homeobox protein 1 397 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 GTTGGCGCTCCCCACGCCGCG 0.662 NaN 0 0 0 0.003163 0 12 63 FASTKD3 79072 broad.mit.edu 37 5 7861273 7861273 + Missense_Mutation SNP G G C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr5:7861273G>C uc003jeb.2 - 6 2010 c.1873C>G c.(1873-1875)CAA>GAA p.Q625E FASTKD3_uc011cmp.1_Missense_Mutation_p.Q327E|FASTKD3_uc003jec.2_RNA NM_024091 NP_076996 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 625 RAP. apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|breast(1)|pancreas(1) 4 TGAACAACTTGATAACCGAGT 0.323 NaN 0 0 0 0.01441 0 53 68 RAD17 5884 broad.mit.edu 37 5 68684860 68684860 + Splice_Site SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr5:68684860G>A uc003jwo.2 + 9 990 c.928_splice c.e9-1 p.N310_splice RAD17_uc003jwg.2_Splice_Site_p.N299_splice|RAD17_uc003jwh.2_Splice_Site_p.N299_splice|RAD17_uc003jwi.2_Splice_Site_p.N299_splice|RAD17_uc003jwj.2_Splice_Site_p.N299_splice|RAD17_uc003jwk.2_Splice_Site_p.N299_splice|RAD17_uc003jwl.2_Splice_Site_p.N299_splice|RAD17_uc003jwm.2_Splice_Site_p.N134_splice|RAD17_uc003jwn.2_Splice_Site_p.N213_splice NM_133339 NP_579917 O75943 RAD17_HUMAN RAD17 homolog isoform 2 cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding 0 Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) tcttattttaGAATGGAGGAA 0.279 NaN Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 0 0 0 0.009096 0 4 34 LYSMD3 116068 broad.mit.edu 37 5 89815210 89815210 + Missense_Mutation SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr5:89815210G>A uc003kjr.2 - 3 495 c.347C>T c.(346-348)TCC>TTC p.S116F LYSMD3_uc010jaz.1_Intron|LYSMD3_uc003kjs.1_Silent_p.F96F NM_198273 NP_938014 Q7Z3D4 LYSM3_HUMAN LysM, putative peptidoglycan-binding, domain 116 Extracellular (Potential). cell wall macromolecule catabolic process integral to membrane 0 all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22) TTCGGTCAAGGAACTGAACTT 0.398 NaN 0 0 0 0.007291 0 25 58 CLTB 1212 broad.mit.edu 37 5 175823491 175823491 + Silent SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr5:175823491G>A uc003meh.2 - 6 682 c.507C>T c.(505-507)ATC>ATT p.I169I CLTB_uc003mei.2_Intron|CLTB_uc011dfn.1_Intron NM_007097 NP_009028 P09497 CLCB_HUMAN clathrin, light polypeptide isoform b 169 intracellular protein transport|vesicle-mediated transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle protein binding|structural molecule activity 0 all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.098) CGTAGCCGATGATATCAGCAT 0.348 NaN 0 0 0 0.012319 0 19 32 RGS14 10636 broad.mit.edu 37 5 176793178 176793178 + Missense_Mutation SNP A A T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr5:176793178A>T uc003mgf.2 + 3 250 c.68A>T c.(67-69)GAG>GTG p.E23V RGS14_uc003mgg.1_5'Flank|RGS14_uc003mgh.2_5'Flank|RGS14_uc003mgi.2_5'Flank NM_006480 NP_006471 O43566 RGS14_HUMAN regulator of G-protein signalling 14 23 chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity lung(1) 1 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCCCTGCAGAGCTGAGCAGC 0.682 NaN 0 0 0 0.001855 0 9 33 HIST1H3I 8354 broad.mit.edu 37 6 27839778 27839778 + Missense_Mutation SNP C C G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr6:27839778C>G uc003njy.2 - 1 322 c.316G>C c.(316-318)GAG>CAG p.E106Q NM_003533 NP_003524 P68431 H31_HUMAN histone cluster 1, H3i 106 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 TTGGTATCCTCAAATAGCCCC 0.572 NaN 0 0 0 0.01441 0 58 82 CDSN 1041 broad.mit.edu 37 6 31084799 31084799 + Missense_Mutation SNP G G C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr6:31084799G>C uc003nsm.1 - 2 620 c.593C>G c.(592-594)TCT>TGT p.S198C PSORS1C1_uc003nsl.1_Intron|PSORS1C1_uc010jsj.1_Intron NM_001264 NP_001255 Q15517 CDSN_HUMAN corneodesmosin precursor 198 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity ovary(1)|pancreas(1) 2 GGTCTGGGAAGAGGAAGAGCT 0.572 NaN 0 0 0 0.01441 0 11 106 FAM46A 55603 broad.mit.edu 37 6 82459570 82459570 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr6:82459570C>T uc003pjg.2 - 3 1489 c.1171G>A c.(1171-1173)GAC>AAC p.D391N FAM46A_uc003pjf.2_Missense_Mutation_p.D410N NM_017633 NP_060103 Q96IP4 FA46A_HUMAN hypothetical protein LOC55603 391 0 all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104) BRCA - Breast invasive adenocarcinoma(397;0.0428) ACATTTTGGTCAGCTAACACC 0.453 NaN 0 0 0 0.01441 0 52 10 CASP8AP2 9994 broad.mit.edu 37 6 90573259 90573259 + Missense_Mutation SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr6:90573259G>A uc003pnr.2 + 7 2027 c.1831G>A c.(1831-1833)GAA>AAA p.E611K CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.E611K|CASP8AP2_uc011dzz.1_Missense_Mutation_p.E611K NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 611 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity ovary(2) 2 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) CTCCATAAGTGAACATATCTT 0.423 NaN 0 0 0 0.009535 0 23 2 FUT9 10690 broad.mit.edu 37 6 96651476 96651476 + Missense_Mutation SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr6:96651476G>A uc003pop.3 + 3 786 c.445G>A c.(445-447)GAG>AAG p.E149K NM_006581 NP_006572 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) 149 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity skin(4)|ovary(1) 5 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) GAGTGGCATTGAGCACTTGTT 0.453 NaN 0 0 0 0.00333 0 21 29 SMPD2 6610 broad.mit.edu 37 6 109763792 109763792 + Missense_Mutation SNP G G C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr6:109763792G>C uc003pti.2 + 6 849 c.455G>C c.(454-456)CGT>CCT p.R152P PPIL6_uc003ptg.3_5'Flank|PPIL6_uc010kdo.2_5'Flank|PPIL6_uc010kdp.2_5'Flank|PPIL6_uc003pth.1_5'Flank NM_003080 NP_003071 O60906 NSMA_HUMAN sphingomyelin phosphodiesterase 2, neutral 152 induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process integral to plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity 0 all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548) Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566) CTAGCACATCGTGTGGCCCAA 0.542 NaN 0 0 0 0.008291 0 8 90 GPER 2852 broad.mit.edu 37 7 1131766 1131766 + Silent SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr7:1131766G>A uc010ksd.1 + 2 791 c.402G>A c.(400-402)TCG>TCA p.S134S C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Silent_p.S134S|GPER_uc003ska.1_Silent_p.S134S|GPER_uc003skb.2_Silent_p.S134S NM_001098201 NP_001091671 Q99527 GPER_HUMAN G protein-coupled receptor 30 134 Helical; Name=3; (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane G-protein coupled receptor activity ovary(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16) CCTTCATGTCGCTCTTCCTGC 0.607 NaN 0 0 0 0.004289 0 31 118 TNRC18 84629 broad.mit.edu 37 7 5410707 5410707 + Missense_Mutation SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr7:5410707G>A uc003soi.3 - 11 3867 c.3518C>T c.(3517-3519)CCG>CTG p.P1173L NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 1173 Pro-rich. DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CTCCAGAGGCGGCAGCTCTGT 0.706 NaN 0 0 0 0.008871 0 18 62 FAM188B 84182 broad.mit.edu 37 7 30891838 30891838 + Silent SNP G G C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr7:30891838G>C uc003tbt.2 + 11 1631 c.1554G>C c.(1552-1554)TCG>TCC p.S518S FAM188B_uc010kwe.2_Silent_p.S489S|AQP1_uc011kac.1_5'Flank NM_032222 NP_115598 Q4G0A6 F188B_HUMAN hypothetical protein LOC84182 518 0 TTAGGGCTTCGAGAACACAGC 0.463 NaN 0 0 0 0.00333 0 18 113 BBS9 27241 broad.mit.edu 37 7 33376191 33376191 + Missense_Mutation SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr7:33376191G>A uc003tdn.1 + 10 1668 c.1155G>A c.(1153-1155)ATG>ATA p.M385I BBS9_uc003tdo.1_Missense_Mutation_p.M385I|BBS9_uc003tdp.1_Missense_Mutation_p.M385I|BBS9_uc003tdq.1_Missense_Mutation_p.M385I|BBS9_uc010kwn.1_RNA|BBS9_uc011kao.1_Missense_Mutation_p.M263I NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 385 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) ATGTAGAAATGAAAGAACTTC 0.333 NaN Bardet-Biedl_syndrome 0 0 0 0.009096 0 4 29 PURB 5814 broad.mit.edu 37 7 44924070 44924070 + Missense_Mutation SNP C C A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr7:44924070C>A uc003tme.2 - 1 891 c.878G>T c.(877-879)CGA>CTA p.R293L NM_033224 NP_150093 Q96QR8 PURB_HUMAN purine-rich element binding protein B 293 regulation of myeloid cell differentiation DNA replication factor A complex mRNA binding|single-stranded DNA binding|transcription factor binding 0 CCCACCACGTCGCTCATAAAG 0.587 NaN 1 0 2.29192e-23 0.01441 2.46822e-23 41 148 FZD1 8321 broad.mit.edu 37 7 90896136 90896136 + Silent SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr7:90896136C>T uc003ula.2 + 1 2354 c.1941C>T c.(1939-1941)GTC>GTT p.V647V NM_003505 NP_003496 Q9UP38 FZD1_HUMAN frizzled 1 precursor 647 PDZ-binding.|Cytoplasmic (Potential). autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding 0 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) AGACTACAGTCTGAGACCCGG 0.627 NaN 0 0 0 0.004289 0 32 89 ACHE 43 broad.mit.edu 37 7 100490233 100490233 + Silent SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr7:100490233C>T uc003uxd.2 - 2 1431 c.1275G>A c.(1273-1275)CTG>CTA p.L425L UFSP1_uc003uxc.3_5'Flank|ACHE_uc003uxe.2_Silent_p.L425L|ACHE_uc003uxf.2_Silent_p.L425L|ACHE_uc003uxg.2_Silent_p.L425L|ACHE_uc003uxh.2_Intron|ACHE_uc003uxi.2_Silent_p.L425L NM_000665 NP_000656 P22303 ACES_HUMAN acetylcholinesterase isoform E4-E6 precursor 425 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity skin(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) GGGCCTCCCTCAGGCGTGCCG 0.697 NaN 0 0 0 0.006214 0 8 33 ACHE 43 broad.mit.edu 37 7 100491541 100491541 + Missense_Mutation SNP C C A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr7:100491541C>A uc003uxd.2 - 1 469 c.313G>T c.(313-315)GAC>TAC p.D105Y ACHE_uc003uxe.2_Missense_Mutation_p.D105Y|ACHE_uc003uxf.2_Missense_Mutation_p.D105Y|ACHE_uc003uxg.2_Missense_Mutation_p.D105Y|ACHE_uc003uxh.2_Missense_Mutation_p.D105Y|ACHE_uc003uxi.2_Missense_Mutation_p.D105Y|ACHE_uc003uxj.1_Missense_Mutation_p.D224Y NM_000665 NP_000656 P22303 ACES_HUMAN acetylcholinesterase isoform E4-E6 precursor 105 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity skin(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) TATAGGGTGTCCACATATTGG 0.592 NaN 1 0 1.81118e-26 0.01441 1.95937e-26 45 167 ATP6V1H 51606 broad.mit.edu 37 8 54708314 54708314 + Missense_Mutation SNP G G C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr8:54708314G>C uc003xrl.2 - 9 915 c.763C>G c.(763-765)CAA>GAA p.Q255E ATP6V1H_uc003xrk.2_Missense_Mutation_p.Q215E|ATP6V1H_uc003xrm.2_Missense_Mutation_p.Q255E|ATP6V1H_uc003xrn.2_Missense_Mutation_p.Q237E|ATP6V1H_uc011ldv.1_Missense_Mutation_p.Q175E|ATP6V1H_uc010lyd.2_Missense_Mutation_p.Q191E NM_213620 NP_998785 Q9UI12 VATH_HUMAN ATPase, H+ transporting, lysosomal 50/57kDa, V1 255 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism 0 all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359) TCACACATTTGAGGACTGAAT 0.403 NaN 0 0 0 0.01441 0 62 81 TRPA1 8989 broad.mit.edu 37 8 72981353 72981353 + Missense_Mutation SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr8:72981353G>A uc003xza.2 - 3 524 c.349C>T c.(349-351)CTT>TTT p.L117F NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 117 Cytoplasmic (Potential).|ANK 2. integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) CTGCTGAGAAGAAACTTAACG 0.413 NaN 0 0 0 0.009718 0 44 187 KIAA1429 25962 broad.mit.edu 37 8 95523769 95523769 + Missense_Mutation SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr8:95523769G>A uc003ygo.1 - 13 3047 c.3034C>T c.(3034-3036)CTT>TTT p.L1012F KIAA1429_uc003ygp.2_Missense_Mutation_p.L1012F|KIAA1429_uc010maz.1_RNA NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 1012 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) GTTTTAAGAAGAGTGAGTGTG 0.448 NaN 0 0 0 0.007413 0 18 209 PABPC1 26986 broad.mit.edu 37 8 101719200 101719200 + Silent SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr8:101719200G>A uc003yjs.1 - 10 1866 c.1362C>T c.(1360-1362)ATC>ATT p.I454I PABPC1_uc011lhc.1_Silent_p.I422I|PABPC1_uc011lhd.1_Silent_p.I409I|PABPC1_uc003yjt.1_Silent_p.I451I|PABPC1_uc003yju.2_Intron NM_002568 NP_002559 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 454 mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity 0 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) CAGCTGGGCGGATAGCACCGG 0.433 NaN 0 0 0 0.010504 0 20 120 TRPS1 7227 broad.mit.edu 37 8 116616194 116616194 + Missense_Mutation SNP C C G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr8:116616194C>G uc003ynz.2 - 3 2422 c.1963G>C c.(1963-1965)GAT>CAT p.D655H TRPS1_uc011lhy.1_Missense_Mutation_p.D659H|TRPS1_uc003yny.2_Missense_Mutation_p.D668H|TRPS1_uc010mcy.2_Missense_Mutation_p.D655H NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 655 Mediates interaction with GLI3. negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TGCTGCCCATCCGATCCTTGC 0.463 NaN Langer-Giedion_syndrome 0 0 0 0.003163 0 15 94 TG 7038 broad.mit.edu 37 8 133913623 133913623 + Missense_Mutation SNP G G C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr8:133913623G>C uc003ytw.2 + 16 3500 c.3459G>C c.(3457-3459)AAG>AAC p.K1153N TG_uc010mdw.2_Intron NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 1153 Thyroglobulin type-1 10. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) ATGTGCTCAAGAGTGGAGTCC 0.607 NaN 0 0 0 0.01441 0 66 136 KIFC2 90990 broad.mit.edu 37 8 145697780 145697780 + Silent SNP C C G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr8:145697780C>G uc003zcz.2 + 15 1709 c.1644C>G c.(1642-1644)GCC>GCG p.A548A KIFC2_uc003zda.2_5'Flank NM_145754 NP_665697 Q96AC6 KIFC2_HUMAN kinesin family member C2 548 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) AGCGCCTGGCCGTGAGGCAGG 0.657 NaN 0 0 0 0.001168 0 5 23 GPT 2875 broad.mit.edu 37 8 145732224 145732224 + Silent SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr8:145732224C>T uc011lli.1 + 11 1555 c.1398C>T c.(1396-1398)TTC>TTT p.F466F GPT_uc003zdh.3_Silent_p.F466F|MFSD3_uc003zdi.1_5'Flank NM_005309 NP_005300 P24298 ALAT1_HUMAN glutamic pyruvate transaminase 466 gluconeogenesis cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(1)|central_nervous_system(1) 2 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CCTACCACTTCCGGTGAGGCC 0.637 NaN 0 0 0 0.010771 0 40 9 ACO1 48 broad.mit.edu 37 9 32450097 32450097 + Missense_Mutation SNP G G C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr9:32450097G>C uc003zqw.3 + 21 2813 c.2658G>C c.(2656-2658)AAG>AAC p.K886N ACO1_uc003zqx.3_Missense_Mutation_p.K886N|ACO1_uc003zqy.3_RNA NM_002197 NP_002188 P21399 ACOC_HUMAN aconitase 1 886 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding 0 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) TGATCCGCAAGATGGCCAAGT 0.592 NaN 0 0 0 0.014323 0 21 42 UBAP2 55833 broad.mit.edu 37 9 33943441 33943441 + Silent SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr9:33943441G>A uc003ztq.1 - 15 1805 c.1692C>T c.(1690-1692)ATC>ATT p.I564I UBAP2_uc011loc.1_Silent_p.I473I|UBAP2_uc011lod.1_Silent_p.I297I|UBAP2_uc011loe.1_Silent_p.I319I|UBAP2_uc011lof.1_Silent_p.I489I|UBAP2_uc011log.1_Silent_p.I510I|UBAP2_uc003ztr.2_Silent_p.I436I|UBAP2_uc003zts.2_Silent_p.I197I NM_018449 NP_060919 Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 564 ovary(3) 3 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) AATACAAGCTGATGGGAATCT 0.393 NaN 0 0 0 0.008361 0 27 60 UBAP2 55833 broad.mit.edu 37 9 34017107 34017107 + Missense_Mutation SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr9:34017107G>A uc003ztq.1 - 2 153 c.40C>T c.(40-42)CGG>TGG p.R14W UBAP2_uc011loc.1_5'UTR|UBAP2_uc011lod.1_Intron|UBAP2_uc011loe.1_5'UTR|UBAP2_uc011lof.1_5'UTR|UBAP2_uc011log.1_Missense_Mutation_p.R13W|UBAP2_uc003ztr.2_5'UTR NM_018449 NP_060919 Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 14 ovary(3) 3 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) GGTTTTTCCCGAGCACCTCGA 0.353 NaN 0 0 0 0.006122 0 15 80 DNAJB5 25822 broad.mit.edu 37 9 34996695 34996695 + Missense_Mutation SNP C C G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr9:34996695C>G uc003zvt.2 + 3 783 c.645C>G c.(643-645)ATC>ATG p.I215M DNAJB5_uc003zvs.2_Missense_Mutation_p.I249M|DNAJB5_uc011los.1_Missense_Mutation_p.I287M NM_012266 NP_036398 O75953 DNJB5_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 5 215 protein folding|response to unfolded protein heat shock protein binding|unfolded protein binding 0 LUSC - Lung squamous cell carcinoma(32;0.00575) ACATAGTCATCAAGCGTGGCT 0.552 NaN 0 0 0 0.013537 0 11 34 FAM75A6 389730 broad.mit.edu 37 9 43624988 43624988 + Missense_Mutation SNP C C G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr9:43624988C>G uc011lrb.1 - 4 3728 c.3699G>C c.(3697-3699)CAG>CAC p.Q1233H NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 1233 integral to membrane 0 CTTGAAACTTCTGTTTGTGCT 0.502 NaN 0 0 0 0.01441 0 86 507 APBA1 320 broad.mit.edu 37 9 72131394 72131394 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr9:72131394C>T uc004ahh.2 - 2 1009 c.733G>A c.(733-735)GAG>AAG p.E245K NM_001163 NP_001154 Q02410 APBA1_HUMAN amyloid beta A4 precursor protein-binding, 245 Munc-18-1 binding. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle lung(1) 1 CTGTCGGACTCGCCGTCGGAG 0.701 NaN 0 0 0 0.012319 0 16 27 FAM120A 23196 broad.mit.edu 37 9 96214620 96214620 + Silent SNP C C G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr9:96214620C>G uc004atw.2 + 1 448 c.423C>G c.(421-423)CCC>CCG p.P141P FAM120AOS_uc004atm.2_5'Flank|FAM120AOS_uc004atn.3_5'Flank|FAM120AOS_uc004ato.3_5'Flank|FAM120AOS_uc004atp.3_5'Flank|FAM120AOS_uc004atq.3_5'Flank|FAM120AOS_uc004atr.3_5'Flank|FAM120AOS_uc004ats.3_Intron|FAM120AOS_uc004att.3_Intron|FAM120AOS_uc004atu.3_Silent_p.T124T|FAM120A_uc004atv.2_Silent_p.P141P NM_014612 NP_055427 Q9NZB2 F120A_HUMAN oxidative stress-associated Src activator 141 cytoplasm|plasma membrane RNA binding 0 TCCTGCCGCCCGTCTGCATGG 0.567 NaN 0 0 0 0.00308 0 6 41 FPGS 2356 broad.mit.edu 37 9 130570856 130570856 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr9:130570856C>T uc004bsg.1 + 10 892 c.842C>T c.(841-843)CCG>CTG p.P281L FPGS_uc004bsh.1_Missense_Mutation_p.P98L|FPGS_uc011mal.1_Missense_Mutation_p.P255L|FPGS_uc004bsi.1_Missense_Mutation_p.P231L NM_004957 NP_004948 Q05932 FOLC_HUMAN folylpolyglutamate synthase isoform a precursor 281 folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process cytosol|mitochondrial matrix ATP binding|tetrahydrofolylpolyglutamate synthase activity 0 L-Glutamic Acid(DB00142) TACCTGTGTCCGATGCTGGAG 0.692 NaN 0 0 0 0.013537 0 9 20 TOR1A 1861 broad.mit.edu 37 9 132584943 132584943 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr9:132584943C>T uc004byl.2 - 2 438 c.361G>A c.(361-363)GAG>AAG p.E121K TOR1A_uc004bym.2_RNA|TOR1A_uc004byn.2_Missense_Mutation_p.E121K NM_000113 NP_000104 O14656 TOR1A_HUMAN torsin A precursor 121 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen|nuclear membrane ATP binding|serine-type endopeptidase activity|unfolded protein binding central_nervous_system(1) 1 Ovarian(14;0.00556) AGACCACCCTCGTAAATATTC 0.488 NaN 0 0 0 0.005524 0 39 150 VAV2 7410 broad.mit.edu 37 9 136634579 136634579 + Silent SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr9:136634579G>A uc004ces.2 - 28 2440 c.2394C>T c.(2392-2394)CTC>CTT p.L798L VAV2_uc004cer.2_Intron NM_001134398 NP_001127870 P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor isoform 798 angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(3)|ovary(2)|lung(2)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) AAGCAAAGCTGAGGCCCTGAG 0.632 NaN 0 0 0 0.000602 0 5 24 GATA1 2623 broad.mit.edu 37 X 48650333 48650333 + Silent SNP G G A rs145355350 TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chrX:48650333G>A uc004dkq.3 + 3 394 c.303G>A c.(301-303)ACG>ACA p.T101T NM_002049 NP_002040 P15976 GATA1_HUMAN GATA binding protein 1 101 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.?(2)|p.V74_C199del(1)|p.V77_A120>A(1) haematopoietic_and_lymphoid_tissue(246)|lung(2) 248 ACGGCAAGACGGGGCTCTACC 0.612 NaN Mis|F megakaryoblastic leukemia of Downs Syndrome 0 0 0 0.004878 0 38 4 AWAT2 158835 broad.mit.edu 37 X 69262998 69262998 + Missense_Mutation SNP A A T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chrX:69262998A>T uc004dxt.1 - 5 574 c.568T>A c.(568-570)TGC>AGC p.C190S NM_001002254 NP_001002254 Q6E213 AWAT2_HUMAN wax synthase 2 190 endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity 0 CTGTATCTGCACTCAGCCAGT 0.547 NaN 0 0 0 0.009096 0 3 6 NXF5 55998 broad.mit.edu 37 X 101095527 101095527 + Silent SNP T T C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chrX:101095527T>C uc011mrk.1 - 10 1002 c.642A>G c.(640-642)CTA>CTG p.L214L NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA NM_032946 NP_116564 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 214 LRR 3. mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding central_nervous_system(1) 1 CTTCTAGCCATAGCTCTTCGA 0.577 NaN 0 0 0 0.010504 0 14 70 WDR44 54521 broad.mit.edu 37 X 117578414 117578414 + Missense_Mutation SNP C C G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chrX:117578414C>G uc004eqn.2 + 19 3029 c.2604C>G c.(2602-2604)AAC>AAG p.N868K WDR44_uc004eqo.2_Missense_Mutation_p.N860K|WDR44_uc011mtr.1_Missense_Mutation_p.N779K|WDR44_uc010nqi.2_Missense_Mutation_p.N578K NM_019045 NP_061918 Q5JSH3 WDR44_HUMAN WD repeat domain 44 protein 868 cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 CAGAAGGGAACGAGAAAAGTG 0.388 NaN 0 0 0 0.011902 0 44 52 SV2A 9900 broad.mit.edu 37 1 149885018 149885019 + Frame_Shift_Ins INS - - C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:149885018_149885019insC uc001etg.2 - 2 865_866 c.374_375insG c.(373-375)GGCfs p.G125fs SV2A_uc001eth.2_Frame_Shift_Ins_p.G125fs NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2 125 Cytoplasmic (Potential). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(6)|pancreas(1) 7 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) CATCACTCAAGCCCCCCCTTAC 0.629 NaN NaN NaN NaN NaN NaN 7 843 --- --- MCL1 4170 broad.mit.edu 37 1 150551492 150551494 + In_Frame_Del DEL TCC TCC - TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr1:150551492_150551494delTCC uc001euz.2 - 1 643_645 c.513_515delGGA c.(511-516)GAGGAC>GAC p.E171del MCL1_uc010pch.1_In_Frame_Del_p.E61del|MCL1_uc001eva.2_In_Frame_Del_p.E171del NM_021960 NP_068779 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 isoform 1 171 PEST-like. anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity 0 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GTACAACTCGTCCTCCTCCTCCT 0.635 NaN NaN NaN NaN NaN NaN 9 397 --- --- LRP4 4038 broad.mit.edu 37 11 46916236 46916243 + Frame_Shift_Del DEL CAAGCTCG CAAGCTCG - rs141108617 TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr11:46916236_46916243delCAAGCTCG uc001ndn.3 - 12 1583_1590 c.1437_1444delCGAGCTTG c.(1435-1446)CGCGAGCTTGTCfs p.R479fs NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 479_482 Extracellular (Potential).|LDL-receptor class B 1. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) GACCAGAAGACAAGCTCGCGGCGGTGGT 0.587 NaN NaN NaN NaN NaN NaN 11 51 --- --- OR8D4 338662 broad.mit.edu 37 11 123777441 123777442 + Frame_Shift_Ins INS - - T rs79561639 byFrequency TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr11:123777441_123777442insT uc010saa.1 + 1 303_304 c.303_304insT c.(301-306)CTGTTTfs p.L101fs NM_001005197 NP_001005197 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, 101_102 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TGATTCAGCTGTTTTTTTTCTG 0.436 NaN NaN NaN NaN NaN NaN 8 274 --- --- EIF2AK4 440275 broad.mit.edu 37 15 40282508 40282508 + Frame_Shift_Del DEL T T - TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr15:40282508delT uc001zkm.1 + 16 2611 c.2561delT c.(2560-2562)ATTfs p.I854fs EIF2AK4_uc010bbj.1_Frame_Shift_Del_p.I555fs|EIF2AK4_uc001zkn.1_5'Flank NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha 854 Protein kinase 2. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity lung(2)|stomach(1)|skin(1) 4 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) CCTGTCAACATTTTTTTGGAT 0.358 NaN NaN NaN NaN NaN NaN 8 302 --- --- TP53 7157 broad.mit.edu 37 17 7579413 7579414 + Frame_Shift_Ins INS - - C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 - C - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr17:7579413_7579414insC uc002gim.2 - 4 467_468 c.273_274insG c.(271-276)TGGCCCfs p.W91fs TP53_uc002gig.1_Frame_Shift_Ins_p.W91fs|TP53_uc002gih.2_Frame_Shift_Ins_p.W91fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Ins_p.W91fs|TP53_uc010cni.1_Frame_Shift_Ins_p.W91fs|TP53_uc002gij.2_Frame_Shift_Ins_p.W91fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Ins_p.W52fs|TP53_uc010cnk.1_Frame_Shift_Ins_p.W106fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 91_92 Interaction with WWOX. P -> S (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> L (in a sporadic cancer; 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.W91*(11)|p.0?(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.L93fs*30(1)|p.P92fs*57(1)|p.W91fs*57(1)|p.A88fs*52(1)|p.P92A(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(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) GATGACAGGGGCCAGGAGGGGG 0.629 111 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) NaN NaN NaN NaN NaN 97 16 --- --- WDR33 55339 broad.mit.edu 37 2 128471200 128471200 + Frame_Shift_Del DEL G G - TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr2:128471200delG uc002tpg.1 - 18 3448 c.3265delC c.(3265-3267)CGGfs p.R1089fs NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN WD repeat domain 33 isoform 1 1089 postreplication repair|spermatogenesis collagen|nucleus protein binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) TCGGGATCCCGGGGGAAACGT 0.617 NaN NaN NaN NaN NaN NaN 7 607 --- --- EP300 2033 broad.mit.edu 37 22 41572411 41572411 + Frame_Shift_Del DEL C C - TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 C - C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr22:41572411delC uc003azl.3 + 30 5335 c.4940delC c.(4939-4941)GCCfs p.A1647fs NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1647 Binding region for E1A adenovirus. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 CTCCGAAGAGCCCAGTGGTCC 0.572 NaN T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome NaN NaN NaN NaN NaN 27 68 --- --- H1FOO 132243 broad.mit.edu 37 3 129268107 129268108 + Frame_Shift_Ins INS - - A rs150160917 by1000genomes TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr3:129268107_129268108insA uc003emu.2 + 3 647_648 c.642_643insA c.(640-645)GCTAGGfs p.A214fs H1FOO_uc003emv.2_Frame_Shift_Ins_p.A75fs NM_153833 NP_722575 Q8IZA3 H1FOO_HUMAN H1 histone family, member O, oocyte-specific 214_215 meiosis|nucleosome assembly cytoplasm|nucleosome DNA binding skin(1) 1 CGGGAGAGGCTAGGAAGGTGCC 0.653 NaN NaN NaN NaN NaN NaN 2 4 --- --- SLC25A4 291 broad.mit.edu 37 4 186067010 186067011 + Frame_Shift_Ins INS - - A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr4:186067010_186067011insA uc003ixd.2 + 3 825_826 c.696_697insA c.(694-699)GACACTfs p.D232fs SLC25A4_uc003ixe.2_RNA NM_001151 NP_001142 P12235 ADT1_HUMAN adenine nucleotide translocator 1 232_233 Helical; Name=5; (By similarity).|Solcar 3. energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction integral to plasma membrane|mitochondrial inner membrane adenine transmembrane transporter activity|protein binding ovary(1) 1 all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) Adenosine triphosphate(DB00171)|Clodronate(DB00720) ACCCCTTTGACACTGTTCGTCG 0.52 NaN NaN NaN NaN NaN NaN 30 12 --- --- FOXQ1 94234 broad.mit.edu 37 6 1313374 1313376 + In_Frame_Del DEL CAA CAA - TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 CAA - CAA CAA Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr6:1313374_1313376delCAA uc003mtl.3 + 1 700_702 c.435_437delCAA c.(433-438)ATCAAC>ATC p.N146del NM_033260 NP_150285 Q9C009 FOXQ1_HUMAN forkhead box Q1 146 Fork-head. DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding 0 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) TGGCGGAGATCAACGAGTACCTC 0.64 NaN NaN NaN NaN NaN NaN 22 88 --- --- SLC17A2 10246 broad.mit.edu 37 6 25921520 25921520 + Frame_Shift_Del DEL T T - TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr6:25921520delT uc011dkb.1 - 3 444 c.361delA c.(361-363)ATGfs p.M121fs SLC17A2_uc011dkc.1_Frame_Shift_Del_p.M121fs|SLC17A2_uc003nfl.2_Frame_Shift_Del_p.M121fs O00624 NPT3_HUMAN SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2; 121 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity ovary(1) 1 GCACCAAGCATTTTTTTTGCT 0.453 NaN NaN NaN NaN NaN NaN 7 236 --- --- C6orf174 387104 broad.mit.edu 37 6 127804080 127804080 + Frame_Shift_Del DEL T T - TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaf54383-4286-4416-9b18-be1081797df2 dfd4328e-f7a5-4bf9-bdf6-a8a293d14283 g.chr6:127804080delT uc003qbd.2 - 5 2400 c.1535delA c.(1534-1536)AAGfs p.K512fs NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 512 Potential. integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) CTGTTGAGCCTTTTTTTCAGA 0.294 NaN NaN NaN NaN NaN NaN 13 925 --- ---