Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut CYP2A6 1548 broad.mit.edu 37 19 41354569 41354569 + Missense_Mutation SNP C C T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr19:41354569C>T ENST00000301141.5 - 3 463 c.443G>A c.(442-444)cGc>cAc p.R148H CTC-490E21.12_ENST00000601627.1_Intron NM_000762.5 NP_000753.3 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 6 148 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2) 37 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) CTCCTGGATGCGCTCCTCGAT 0.692000 4 163 0 0 1 0 0 SLITRK2 84631 broad.mit.edu 37 X 144905220 144905220 + Missense_Mutation SNP G G T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chrX:144905220G>T ENST00000370490.1 + 1 5532 c.1277G>T c.(1276-1278)cGc>cTc p.R426L SLITRK2_ENST00000428560.2_Missense_Mutation_p.R426L|SLITRK2_ENST00000434188.2_Missense_Mutation_p.R426L|SLITRK2_ENST00000413937.2_Missense_Mutation_p.R426L|SLITRK2_ENST00000447897.2_Missense_Mutation_p.R426L Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 426 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) ACCAGTTTACGCAGACTTTAT 0.393000 6 315 0.0293803 0.0314789 1 1 0 PCDHA6 56142 broad.mit.edu 37 5 140209731 140209731 + Silent SNP C C T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr5:140209731C>T ENST00000529310.1 + 1 2169 c.2055C>T c.(2053-2055)ggC>ggT p.G685G PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTCGGTGGGCGCCGCGGGCC 0.662000 10 190 0 0 1 0 0 ELL3 80237 broad.mit.edu 37 15 44065388 44065388 + Missense_Mutation SNP C C T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr15:44065388C>T ENST00000319359.3 - 11 1761 c.1120G>A c.(1120-1122)Gag>Aag p.E374K RP11-296A16.1_ENST00000417761.2_3'UTR|PDIA3_ENST00000300289.5_3'UTR|ELL3_ENST00000497465.1_5'UTR NM_025165.2 NP_079441.1 Q9HB65 ELL3_HUMAN elongation factor RNA polymerase II-like 3 374 positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter transcription elongation factor complex cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1) 13 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;7.81e-07) TGAAGGTACTCACAGCGACGC 0.433000 8 162 0 0 1 0 0 SLC34A2 10568 broad.mit.edu 37 4 25677815 25677815 + Missense_Mutation SNP C C T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr4:25677815C>T ENST00000382051.3 + 13 1567 c.1517C>T c.(1516-1518)cCg>cTg p.P506L SLC34A2_ENST00000503434.1_Missense_Mutation_p.P505L|SLC34A2_ENST00000504570.1_Missense_Mutation_p.P505L NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 506 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) TACCCGATCCCGTTCACTCGC 0.567000 T ROS1 NSCLC 20 135 0 0 1 0 0 GDPD2 54857 broad.mit.edu 37 X 69652158 69652158 + Splice_Site SNP G G A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chrX:69652158G>A ENST00000453994.2 + 14 1823 c.1460_splice c.e14-1 p.A488_splice GDPD2_ENST00000538649.1_Splice_Site_p.A358_splice|GDPD2_ENST00000536730.1_Splice_Site_p.A358_splice|GDPD2_ENST00000374382.3_Splice_Site_p.A437_splice|GDPD2_ENST00000472623.1_3'UTR NM_001171192.1 NP_001164663.1 Q9HCC8 GDPD2_HUMAN glycerophosphodiester phosphodiesterase domain containing 2 437 glycerol metabolic process|lipid metabolic process cytoplasm|cytoskeleton|integral to membrane|plasma membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2) 22 Renal(35;0.156) CCTTCACAGGGCATTGCATAA 0.517000 4 236 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38783304 38783304 + Missense_Mutation SNP C C A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr6:38783304C>A ENST00000359357.3 + 24 2997 c.2743C>A c.(2743-2745)Ctg>Atg p.L915M DNAH8_ENST00000449981.2_Missense_Mutation_p.L1132M|DNAH8_ENST00000441566.1_Missense_Mutation_p.L915M dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CCAGTTAACCCTGGAGGTCAG 0.488000 15 83 5.03518e-11 6.00789e-11 1 1 0 UBR4 23352 broad.mit.edu 37 1 19524200 19524200 + Missense_Mutation SNP G G A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr1:19524200G>A ENST00000375267.2 - 7 860 c.857C>T c.(856-858)cCt>cTt p.P286L UBR4_ENST00000375226.2_Missense_Mutation_p.P286L|UBR4_ENST00000375254.3_Missense_Mutation_p.P286L|UBR4_ENST00000375217.2_Missense_Mutation_p.P286L Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 286 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TACTGTTGCAGGCATTATGAA 0.433000 27 272 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871058 170871058 + Silent SNP G G A rs113440919 TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr6:170871058G>A ENST00000392092.2 + 3 513 c.234G>A c.(232-234)caG>caA p.Q78Q TBP_ENST00000540980.1_Silent_p.Q58Q|TBP_ENST00000230354.6_Silent_p.Q78Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 78 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.577000 4 90 0 0 1 0 0 VPS39 23339 broad.mit.edu 37 15 42458395 42458395 + Missense_Mutation SNP C C A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr15:42458395C>A ENST00000318006.5 - 16 1804 c.1642G>T c.(1642-1644)Gtg>Ttg p.V548L VPS39_ENST00000348544.4_Missense_Mutation_p.V559L NM_015289.2 NP_056104.2 Q96JC1 VPS39_HUMAN vacuolar protein sorting 39 homolog (S. cerevisiae) 559 protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) AGCACCCACACTGAGTAGGAG 0.502000 4 134 1 1 1 1 0 PLEKHB2 55041 broad.mit.edu 37 2 131890480 131890480 + Silent SNP T T C TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr2:131890480T>C ENST00000403716.1 + 6 899 c.339T>C c.(337-339)taT>taC p.Y113Y PLEKHB2_ENST00000404460.1_Silent_p.Y113Y|PLEKHB2_ENST00000303908.3_Silent_p.Y113Y|PLEKHB2_ENST00000538982.1_Silent_p.Y65Y|PLEKHB2_ENST00000234115.6_Silent_p.Y113Y|PLEKHB2_ENST00000409279.1_Silent_p.Y113Y|PLEKHB2_ENST00000409158.1_Silent_p.Y113Y|PLEKHB2_ENST00000439822.2_Intron|PLEKHB2_ENST00000409612.1_Silent_p.Y113Y|PLEKHB2_ENST00000438882.2_Silent_p.Y113Y NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2 NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2 Q96CS7 PKHB2_HUMAN pleckstrin homology domain containing, family B (evectins) member 2 113 membrane protein binding large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.0828) CGCAGGCGTATGTGGGCTCTG 0.547000 6 175 0 0 1 0 0 BCAS2 10286 broad.mit.edu 37 1 115118251 115118251 + Missense_Mutation SNP T T A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr1:115118251T>A ENST00000369541.3 - 4 426 c.379A>T c.(379-381)Atg>Ttg p.M127L BCAS2_ENST00000485021.1_5'UTR NM_005872.2 NP_005863.1 O75934 SPF27_HUMAN breast carcinoma amplified sequence 2 127 mRNA processing|RNA splicing, via transesterification reactions nucleolus|spliceosomal complex protein binding biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4) 13 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TGCTGTGACATTAGTTCCAGA 0.353000 4 129 0 0 1 0 0 OR4F6 390648 broad.mit.edu 37 15 102346711 102346711 + Silent SNP C C T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr15:102346711C>T ENST00000328882.4 + 1 810 c.789C>T c.(787-789)ccC>ccT p.P263P NM_001005326.1 NP_001005326.1 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, member 6 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TTCCATTTCCCACATCACATC 0.378000 9 147 0 0 1 0 0 NELFCD 51497 broad.mit.edu 37 20 57569701 57569701 + Silent SNP C C T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr20:57569701C>T ENST00000602795.1 + 15 1818 c.1770C>T c.(1768-1770)caC>caT p.H590H NELFCD_ENST00000344018.3_Silent_p.H581H|NELFCD_ENST00000479207.1_3'UTR negative elongation factor complex member C/D TTAAAGCTCACTGCAAATCTA 0.373000 4 170 0 0 1 0 0 ZNF426 79088 broad.mit.edu 37 19 9639460 9639460 + Missense_Mutation SNP C C T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr19:9639460C>T ENST00000593003.1 - 6 1624 c.1147G>A c.(1147-1149)Gag>Aag p.E383K ZNF426_ENST00000535489.1_Missense_Mutation_p.E421K|ZNF426_ENST00000253115.2_Missense_Mutation_p.E421K Q9BUY5 ZN426_HUMAN zinc finger protein 426 421 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 ATCTTACACTCACAGGCCTTC 0.433000 11 128 0 0 1 0 0 GAB3 139716 broad.mit.edu 37 X 153944560 153944560 + Silent SNP G G A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chrX:153944560G>A ENST00000369575.3 - 2 148 c.117C>T c.(115-117)agC>agT p.S39S GAB3_ENST00000424127.2_Silent_p.S39S|GAB3_ENST00000496390.1_5'UTR NM_001081573.1|NM_080612.2 NP_001075042.1|NP_542179.1 Q8WWW8 GAB3_HUMAN GRB2-associated binding protein 3 39 PH. NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1) 25 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CGGGGTTGCCGCTCATGCGGC 0.562000 4 164 0 0 1 0 0 LYSMD1 388695 broad.mit.edu 37 1 151134229 151134229 + Silent SNP C C T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr1:151134229C>T ENST00000368908.5 - 2 1188 c.528G>A c.(526-528)ctG>ctA p.L176L LYSMD1_ENST00000440902.2_Silent_p.L128L NM_212551.4 NP_997716.1 Q96S90 LYSM1_HUMAN LysM, putative peptidoglycan-binding, domain containing 1 176 cell wall macromolecule catabolic process endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 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;0.211) CCCCTTTTTTCAGCTTCTGAG 0.468000 5 247 0 0 1 0 0 FEM1A 55527 broad.mit.edu 37 19 4793724 4793724 + Missense_Mutation SNP C C A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr19:4793724C>A ENST00000269856.3 + 1 1997 c.1858C>A c.(1858-1860)Ctg>Atg p.L620M AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 620 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity p.L620M(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GGCCTACGAGCTGCTGGACGA 0.607000 5 64 1 1 1 1 0 ANKRD30BP3 338579 broad.mit.edu 37 10 45652235 45652235 + RNA SNP C C G rs149362183 TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr10:45652235C>G ENST00000427229.2 + 0 1749 GAAGGAACATCTGAAGGAACA 0.478000 6 18 0 0 1 0 0 LCA5 167691 broad.mit.edu 37 6 80197408 80197408 + Silent SNP A A T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr6:80197408A>T ENST00000392959.1 - 9 2018 c.1407T>A c.(1405-1407)gcT>gcA p.A469A LCA5_ENST00000369846.4_Silent_p.A469A NM_181714.3 NP_859065.2 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 469 protein transport cilium axoneme|microtubule basal body protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) CATTCAGTTTAGCAAGTAGCA 0.378000 4 175 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53062469 53062469 + Silent SNP G G A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr8:53062469G>A ENST00000276480.7 - 16 2558 c.1875C>T c.(1873-1875)gaC>gaT p.D625D NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 625 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) GTGCAGACTTGTCCAGGATTC 0.408000 15 123 0 0 1 0 0 BCOR 54880 broad.mit.edu 37 X 39923084 39923084 + Missense_Mutation SNP T T A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chrX:39923084T>A ENST00000342274.4 - 8 3884 c.3522A>T c.(3520-3522)caA>caT p.Q1174H BCOR_ENST00000378463.1_Missense_Mutation_p.Q51H|BCOR_ENST00000378444.4_Missense_Mutation_p.Q1208H|BCOR_ENST00000378455.4_Missense_Mutation_p.Q1156H|BCOR_ENST00000397354.3_Missense_Mutation_p.Q1174H NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 1208 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 GCAAGTGGCGTTGTTTTTTAG 0.512000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 30 117 0 0 1 0 0 B4GALNT3 283358 broad.mit.edu 37 12 569666 569666 + Missense_Mutation SNP G G A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr12:569666G>A ENST00000266383.5 + 1 137 c.124G>A c.(124-126)Gaa>Aaa p.E42K NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 42 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) TCTGTATCTGGAACTGGTGGC 0.731000 9 33 0 0 1 0 0 FAM120A 23196 broad.mit.edu 37 9 96305693 96305693 + Missense_Mutation SNP C C T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr9:96305693C>T ENST00000277165.6 + 11 2293 c.2099C>T c.(2098-2100)cCa>cTa p.P700L FAM120A_ENST00000333936.5_Missense_Mutation_p.P728L|FAM120A_ENST00000340893.4_Missense_Mutation_p.P700L NM_014612.3 NP_055427.2 Q9NZB2 F120A_HUMAN family with sequence similarity 120A 700 cytoplasm|plasma membrane RNA binding endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 TCGGACACCCCAGCCATGCTC 0.637000 6 139 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1272626 1272626 + Missense_Mutation SNP C C G TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr11:1272626C>G ENST00000447027.1 + 31 14583 c.14525C>G c.(14524-14526)tCc>tGc p.S4842C MUC5B_ENST00000529681.1_Missense_Mutation_p.S4839C Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4839 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCCACCCTGTCCTCCACCCCA 0.647000 7 355 0 0 1 0 0 SLC5A10 125206 broad.mit.edu 37 17 18916757 18916757 + Silent SNP G G A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr17:18916757G>A ENST00000317977.6 + 9 1387 c.816G>A c.(814-816)ctG>ctA p.L272L SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Silent_p.L355L|SLC5A10_ENST00000395643.2_Silent_p.L312L|SLC5A10_ENST00000395645.3_Silent_p.L339L|SLC5A10_ENST00000395642.1_Silent_p.L272L A0PJK1 SC5AA_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 10 339 sodium ion transport|transmembrane transport integral to membrane transporter activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3) 24 CCGAGTGCCTGCGGGCCTGCG 0.632000 8 140 0 0 1 0 0 PPOX 5498 broad.mit.edu 37 1 161140283 161140283 + Missense_Mutation SNP G G A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr1:161140283G>A ENST00000367999.4 + 10 1338 c.1072G>A c.(1072-1074)Ggg>Agg p.G358R PPOX_ENST00000432542.2_Missense_Mutation_p.G103R|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000352210.5_Missense_Mutation_p.G358R|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000535223.1_Intron NM_001122764.1 NP_001116236.1 P50336 PPOX_HUMAN protoporphyrinogen oxidase 358 heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3) 15 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) TGAGCAGGACGGGAGCCCCCC 0.547000 11 127 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119859 38119859 + Silent SNP C C T rs66505048 TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr22:38119859C>T ENST00000406386.3 + 7 1551 c.1296C>T c.(1294-1296)tgC>tgT p.C432C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 432 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C432C(6) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAACATCCTGCGCCCAGCGGG 0.582000 5 282 0 0 1 0 0 ADAM21 8747 broad.mit.edu 37 14 70926037 70926037 + Silent SNP G G C TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr14:70926037G>C ENST00000603540.1 + 2 2079 c.1821G>C c.(1819-1821)gtG>gtC p.V607V ADAM21_ENST00000267499.3_Silent_p.V607V|RP11-486O13.4_ENST00000556646.1_lincRNA NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 607 Cys-rich. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TTGGTGAAGTGAAAGATGGTA 0.433000 4 99 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51890704 51890704 + Missense_Mutation SNP C C T rs141972092 TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr6:51890704C>T ENST00000371117.3 - 32 4179 c.3904G>A c.(3904-3906)Gta>Ata p.V1302I PKHD1_ENST00000340994.4_Missense_Mutation_p.V1302I NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1302 IPT/TIG 8; atypical. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GCAGTGACTACTGGTGTTGCT 0.542000 26 117 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70812039 70812039 + Missense_Mutation SNP A A C TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr5:70812039A>C ENST00000358731.4 + 21 5064 c.4801A>C c.(4801-4803)Att>Ctt p.I1601L BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 1601 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) CAAAGGCATAATTAAGGAAGG 0.373000 4 56 0 0 1 0 0 TCFL5 10732 broad.mit.edu 37 20 61492864 61492864 + Silent SNP C C T rs145355253 byFrequency TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr20:61492864C>T ENST00000335351.3 - 1 251 c.159G>A c.(157-159)gaG>gaA p.E53E TCFL5_ENST00000217162.5_Silent_p.E5E NM_006602.2 NP_006593.2 Q9UL49 TCFL5_HUMAN transcription factor-like 5 (basic helix-loop-helix) 53 cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1) 9 Breast(26;5.68e-08) GCTGCGTGTACTCCACCTCCG 0.741000 22 61 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24388545 24388545 + Missense_Mutation SNP C C A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr1:24388545C>A ENST00000330966.7 - 33 3996 c.3834G>T c.(3832-3834)gaG>gaT p.E1278D MYOM3_ENST00000338909.5_Missense_Mutation_p.E168D|MYOM3_ENST00000374434.3_Missense_Mutation_p.E1275D|RP11-293P20.2_ENST00000439239.2_RNA Q5VTT5 MYOM3_HUMAN myomesin 3 1275 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GAAGCCAGATCTCATCCAGGG 0.527000 6 368 0.0293803 0.0314789 1 1 0 OR2W3 343171 broad.mit.edu 37 1 248059593 248059593 + Missense_Mutation SNP G G C TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr1:248059593G>C ENST00000537741.1 + 3 962 c.705G>C c.(703-705)caG>caC p.Q235H OR2W3_ENST00000360358.3_Missense_Mutation_p.Q235H Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CAGGAAGGCAGAAGGCCTTCG 0.532000 5 316 0 0 1 0 0 QRICH2 84074 broad.mit.edu 37 17 74289004 74289004 + Missense_Mutation SNP G G A rs143499534 byFrequency TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr17:74289004G>A ENST00000262765.5 - 4 1485 c.1306C>T c.(1306-1308)Cgg>Tgg p.R436W NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 436 Gln-rich. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 attccaggccggaccaaacca 0.557000 3 78 0 0 1 0 0 CCDC91 55297 broad.mit.edu 37 12 28637039 28637039 + Missense_Mutation SNP G G C TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr12:28637039G>C ENST00000545336.1 + 15 1575 c.1156G>C c.(1156-1158)Gaa>Caa p.E386Q CCDC91_ENST00000306172.5_Missense_Mutation_p.E356Q|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000539107.1_Missense_Mutation_p.E350Q|CCDC91_ENST00000381259.1_Missense_Mutation_p.E386Q|CCDC91_ENST00000381256.1_Missense_Mutation_p.E350Q Q7Z6B0 CCD91_HUMAN coiled-coil domain containing 91 386 Homodimerization. protein transport Golgi apparatus|membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1) 22 Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184) AAAGGCTGTGGAAGAGGCAGT 0.383000 8 28 0 0 1 0 0 FIG4 9896 broad.mit.edu 37 6 110081456 110081456 + Silent SNP C C A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr6:110081456C>A ENST00000230124.3 + 11 1265 c.1141C>A c.(1141-1143)Cga>Aga p.R381R FIG4_ENST00000441478.2_Silent_p.R104R NM_014845.5 NP_055660.1 Q92562 FIG4_HUMAN FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) 381 SAC. cell death endosome membrane protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2) 32 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) GATAAAGGAACGAGAGAAAAG 0.333000 14 57 2.62699e-14 3.2451e-14 1 1 0 RNF113A 7737 broad.mit.edu 37 X 119005322 119005322 + Silent SNP G G A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chrX:119005322G>A ENST00000371442.2 - 1 469 c.255C>T c.(253-255)agC>agT p.S85S NM_006978.2 NP_008909.1 O15541 R113A_HUMAN ring finger protein 113A 85 nucleic acid binding|zinc ion binding p.S85S(1) NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6) 15 CTTCCTCTTCGCTGCTCAAGT 0.552000 17 388 0 0 1 0 0 DAP3 7818 broad.mit.edu 37 1 155699050 155699050 + Missense_Mutation SNP G G C TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr1:155699050G>C ENST00000368336.5 + 9 860 c.736G>C c.(736-738)Gag>Cag p.E246Q DAP3_ENST00000421487.2_Missense_Mutation_p.E212Q|DAP3_ENST00000343043.3_Missense_Mutation_p.E246Q|DAP3_ENST00000535183.1_Missense_Mutation_p.E205Q|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000471214.1_3'UTR NM_001199849.1|NM_004632.3 NP_001186778.1|NP_004623.1 P51398 RT29_HUMAN death associated protein 3 246 induction of apoptosis by extracellular signals mitochondrial ribosome|nucleolus|small ribosomal subunit protein binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 24 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) TGTGCTGAAAGAGCTAAAGAG 0.473000 8 166 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108622615 108622615 + Missense_Mutation SNP G G A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr2:108622615G>A ENST00000264047.2 + 7 1128 c.852G>A c.(850-852)atG>atA p.M284I SLC5A7_ENST00000409059.1_Missense_Mutation_p.M284I|SLC5A7_ENST00000540517.1_Missense_Mutation_p.M179I NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 284 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) GCCTGGTGATGGCCATCCCAG 0.522000 34 93 0 0 1 0 0 CCDC36 339834 broad.mit.edu 37 3 49294343 49294343 + Missense_Mutation SNP C C G TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr3:49294343C>G ENST00000438782.1 + 8 1649 c.1413C>G c.(1411-1413)ttC>ttG p.F471L CCDC36_ENST00000452691.2_Missense_Mutation_p.F471L|CCDC36_ENST00000296449.5_Missense_Mutation_p.F471L Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 471 endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3) 14 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) CCTGTAAATTCAATTCCAAAT 0.542000 5 322 0 0 1 0 0 C17orf70 80233 broad.mit.edu 37 17 79517622 79517622 + Missense_Mutation SNP T T A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr17:79517622T>A ENST00000537152.1 - 3 970 c.445A>T c.(445-447)Aat>Tat p.N149Y C17orf70_ENST00000327787.8_Missense_Mutation_p.N300Y NM_025161.5 NP_079437.5 Q0VG06 FP100_HUMAN chromosome 17 open reading frame 70 300 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) GGCAGAAAATTCTCTGCAGCT 0.577000 9 206 0 0 1 0 0 GGT3P 2679 broad.mit.edu 37 22 18778603 18778603 + RNA SNP C C T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr22:18778603C>T ENST00000412448.1 - 0 802 TTGGCATCCGCGGCCACGGCA 0.627000 7 22 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105414687 105414687 + Silent SNP G G A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr14:105414687G>A ENST00000333244.5 - 7 7220 c.7101C>T c.(7099-7101)agC>agT p.S2367S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2367 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGGGCTGAACGCTGAGGTCAG 0.657000 11 429 0 0 1 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12918890 12918890 + Missense_Mutation SNP T T A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr1:12918890T>A ENST00000240189.2 + 2 113 c.26T>A c.(25-27)cTa>cAa p.L9Q NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 9 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCACCGAGACTACTGGAGCTG 0.552000 6 282 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178916924 178916924 + Missense_Mutation SNP C C T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr3:178916924C>T ENST00000263967.3 + 2 468 c.311C>T c.(310-312)cCa>cTa p.P104L NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 104 PI3K-ABD. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.P104L(1)|p.P104R(1)|p.P104_G106>R(1)|p.E103_G106>D(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GTAATTGAACCAGTAGGCAAC 0.353000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 30 111 0 0 1 0 0 IGKV1D-13 28902 broad.mit.edu 37 2 90193232 90193232 + RNA SNP T T A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr2:90193232T>A ENST00000390275.2 + 0 339 GCATTAGCAGTGCTTTAGCCT 0.537000 79 203 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 109 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155458655 155458655 + Silent SNP C C G TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr6:155458655C>G ENST00000461783.3 + 7 2812 c.1539C>G c.(1537-1539)ctC>ctG p.L513L TIAM2_ENST00000529824.2_Silent_p.L513L|TIAM2_ENST00000318981.5_Silent_p.L513L|TIAM2_ENST00000360366.4_Silent_p.L513L|TIAM2_ENST00000456144.1_Silent_p.L513L|TIAM2_ENST00000367174.2_5'UTR Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 513 PH 1. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) CCGGGTGGCTCTTCTTCAAGC 0.562000 4 105 0 0 1 0 0 GRAMD4 23151 broad.mit.edu 37 22 47022830 47022830 + Missense_Mutation SNP C C T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr22:47022830C>T ENST00000406902.1 + 2 347 c.134C>T c.(133-135)cCc>cTc p.P45L GRAMD4_ENST00000490378.1_Intron|GRAMD4_ENST00000361034.3_Missense_Mutation_p.P45L Q6IC98 GRAM4_HUMAN GRAM domain containing 4 45 apoptosis integral to membrane|mitochondrial membrane breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 12 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) CGGACCTCGCCCCGGGACAGC 0.647000 33 135 0 0 1 0 0 HNRNPH2 3188 broad.mit.edu 37 X 100667389 100667389 + Missense_Mutation SNP C C G TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chrX:100667389C>G ENST00000316594.5 + 2 491 c.413C>G c.(412-414)cCa>cGa p.P138R NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4 NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1 P55795 HNRH2_HUMAN heterogeneous nuclear ribonucleoprotein H2 (H') 138 RRM 2. nuclear mRNA splicing, via spliceosome actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding breast(3)|large_intestine(2)|lung(6)|skin(1) 12 GAAATTGTGCCAAATGGGATG 0.498000 7 170 0 0 1 0 0 MPO 4353 broad.mit.edu 37 17 56355289 56355289 + Missense_Mutation SNP C C T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr17:56355289C>T ENST00000340482.3 - 6 1375 c.1199G>A c.(1198-1200)cGc>cAc p.R400H MPO_ENST00000225275.3_Missense_Mutation_p.R368H|MPO_ENST00000578493.1_5'UTR P05164 PERM_HUMAN myeloperoxidase 368 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) GTCTTGGAAGCGCTGGTTGAC 0.652000 12 137 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55259515 55259515 + Missense_Mutation SNP T T G rs121434568 TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr7:55259515T>G ENST00000275493.2 + 21 2750 c.2573T>G c.(2572-2574)cTg>cGg p.L858R EGFR_ENST00000455089.1_Missense_Mutation_p.L813R|EGFR_ENST00000454757.2_Missense_Mutation_p.L805R|EGFR_ENST00000442591.1_Intron NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 858 Protein kinase. L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L858R(1489)|p.L858Q(1)|p.L858K(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GATTTTGGGCTGGCCAAACTG 0.537000 L858R(NCIH1975_LUNG) 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 51 202 0 0 1 0 0 RCC1 1104 broad.mit.edu 37 1 28863387 28863387 + Missense_Mutation SNP G G T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr1:28863387G>T ENST00000373833.6 + 12 1351 c.1066G>T c.(1066-1068)Gtg>Ttg p.V356L RCC1_ENST00000373831.3_Missense_Mutation_p.V387L|RCC1_ENST00000373832.1_Missense_Mutation_p.V356L|RCC1_ENST00000398958.2_Missense_Mutation_p.V356L P18754 RCC1_HUMAN regulator of chromosome condensation 1 356 cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649) TGGGGCCTCTGTGGGGTATGC 0.597000 9 364 1.12685e-05 1.27225e-05 1 1 0 DSCR9 257203 broad.mit.edu 37 21 38593667 38593667 + RNA SNP T T C TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr21:38593667T>C ENST00000454482.2 + 0 1274 NR_026719.2 TGACCACGCCTACAGCCGAAG 0.652000 5 119 0 0 1 0 0 FLII 2314 broad.mit.edu 37 17 18156872 18156872 + Missense_Mutation SNP G G T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr17:18156872G>T ENST00000327031.4 - 8 1066 c.841C>A c.(841-843)Ctc>Atc p.L281I FLII_ENST00000545457.2_Missense_Mutation_p.L227I|FLII_ENST00000584444.1_Intron|FLII_ENST00000578558.1_Missense_Mutation_p.L281I|FLII_ENST00000579294.1_Missense_Mutation_p.L270I|FLII_ENST00000379450.4_Missense_Mutation_p.L196I NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 281 Interaction with LRRFIP1 and LRRFIP2. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) AGTGAGGTGAGCTGATTTCGG 0.642000 6 233 1 1 1 1 0 ACACA 31 broad.mit.edu 37 17 35614667 35614667 + Missense_Mutation SNP C C A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr17:35614667C>A ENST00000353139.5 - 14 2265 c.1784G>T c.(1783-1785)gGt>gTt p.G595V ACACA_ENST00000394406.2_Missense_Mutation_p.G558V|ACACA_ENST00000360679.3_Missense_Mutation_p.G500V|ACACA_ENST00000335166.5_Missense_Mutation_p.G480V NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 558 Biotin carboxylation. 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 NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) AAAGCAGTGACCAAACTGAGA 0.383000 4 96 1 1 1 1 0 ZNF823 55552 broad.mit.edu 37 19 11833207 11833207 + Missense_Mutation SNP G G T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr19:11833207G>T ENST00000341191.6 - 4 1295 c.1142C>A c.(1141-1143)aCa>aAa p.T381K ZNF823_ENST00000545749.1_Missense_Mutation_p.T199K NM_001080493.2 NP_001073962.1 P16415 ZN823_HUMAN zinc finger protein 823 381 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4) 26 TCCTGTGTGTGTTATCATGTG 0.428000 HNSCC(68;0.2) 5 161 0.00116845 0.00130518 1 1 0 CSAG4 100130935 broad.mit.edu 37 X 151896589 151896589 + RNA SNP C C A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chrX:151896589C>A ENST00000361201.4 - 0 351 NR_073432.1 p.L11F(1) endometrium(2)|kidney(2)|lung(1) 5 GGTTGTTGGACAATGGGCTGG 0.557000 6 314 0.00448238 0.0049026 1 1 0 NCAPD2 9918 broad.mit.edu 37 12 6627032 6627032 + Missense_Mutation SNP G G T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr12:6627032G>T ENST00000315579.5 + 13 2295 c.1496G>T c.(1495-1497)gGa>gTa p.G499V NCAPD2_ENST00000545962.1_Missense_Mutation_p.G454V NM_014865.3 NP_055680.3 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 499 Interactions with SMC2 and SMC4. cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 CTTCCCCAGGGAGAGGAGGAG 0.507000 4 111 0.184627 0.193859 1 1 0 RBM47 54502 broad.mit.edu 37 4 40438646 40438646 + Missense_Mutation SNP C C T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr4:40438646C>T ENST00000381793.2 - 4 1538 c.1142G>A c.(1141-1143)cGa>cAa p.R381Q RBM47_ENST00000381795.6_Intron|RBM47_ENST00000319592.4_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.R381Q|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Missense_Mutation_p.R343Q A0AV96 RBM47_HUMAN RNA binding motif protein 47 381 nucleus nucleotide binding|RNA binding p.R381P(1) breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 ACCTCGCCCTCGGCCTCTTAT 0.552000 5 250 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73675265 73675265 + Silent SNP C C T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr2:73675265C>T ENST00000264448.6 + 8 1719 c.1608C>T c.(1606-1608)ctC>ctT p.L536L ALMS1_ENST00000409009.1_Silent_p.L494L|ALMS1_ENST00000377715.1_Silent_p.L536L NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 536 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 CTGATACTCTCAACCAAAAGA 0.428000 38 105 0 0 1 0 0 RFX3 5991 broad.mit.edu 37 9 3330515 3330515 + Missense_Mutation SNP C C A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr9:3330515C>A ENST00000382004.3 - 5 529 c.218G>T c.(217-219)cGa>cTa p.R73L RFX3_ENST00000358730.2_Missense_Mutation_p.R73L|RFX3_ENST00000302303.1_Missense_Mutation_p.R73L NM_134428.1 NP_602304.1 P48380 RFX3_HUMAN regulatory factor X, 3 (influences HLA class II expression) 73 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) CGTTGTTGTTCGGCTTTAGAA 0.348000 4 109 1 1 1 1 0 FOXQ1 94234 broad.mit.edu 37 6 1313481 1313481 + Missense_Mutation SNP T T C TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr6:1313481T>C ENST00000296839.2 + 1 807 c.542T>C c.(541-543)cTg>cCg p.L181P NM_033260.3 NP_150285.3 Q9C009 FOXQ1_HUMAN forkhead box Q1 181 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 lung(1)|urinary_tract(1) 2 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) GTCAAGGTGCTGCGCGACCCC 0.642000 28 153 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198285796 198285796 + Missense_Mutation SNP G G A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr2:198285796G>A ENST00000335508.5 - 3 348 c.257C>T c.(256-258)gCc>gTc p.A86V SF3B1_ENST00000414963.2_Missense_Mutation_p.A86V|SF3B1_ENST00000487698.1_Missense_Mutation_p.A86V|SF3B1_ENST00000409915.4_Missense_Mutation_p.A86V NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 86 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) TGCCACAGGGGCATGATATCC 0.388000 Mis myelodysplastic syndrome 17 215 0 0 1 0 0 NPTXR 23467 broad.mit.edu 37 22 39224291 39224291 + Splice_Site SNP C C T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr22:39224291C>T ENST00000333039.2 - 2 974 c.e2+1 NM_014293.3 NP_055108.2 O95502 NPTXR_HUMAN neuronal pentraxin receptor integral to membrane metal ion binding central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Melanoma(58;0.04) CCAGGACCCACCGTGCTCCAG 0.597000 31 149 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 5 78 0 0 1 0 0 CDX2 1045 broad.mit.edu 37 13 28542667 28542667 + Silent SNP G G T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr13:28542667G>T ENST00000381020.7 - 1 2609 c.477C>A c.(475-477)ggC>ggA p.G159G NM_001265.4 NP_001256.3 Q99626 CDX2_HUMAN caudal type homeobox 2 159 organ morphogenesis|transcription from RNA polymerase II promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(1)|lung(6) 9 all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155) Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199) GCCGCTGGCCGCCGGGAGACA 0.736000 T ETV6 AML 6 41 5.18039e-06 6.04379e-06 1 1 0 LAX1 54900 broad.mit.edu 37 1 203743757 203743757 + Missense_Mutation SNP G G T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr1:203743757G>T ENST00000442561.2 + 5 1535 c.1145G>T c.(1144-1146)gGa>gTa p.G382V LAX1_ENST00000367217.5_Missense_Mutation_p.G366V|LAX1_ENST00000367215.1_3'UTR NM_017773.3 NP_060243.2 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 382 B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2) 24 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) GCCAAGTTAGGAGGCAGGGAC 0.488000 8 142 1.12685e-05 1.27225e-05 1 1 0 BRINP2 57795 broad.mit.edu 37 1 177247895 177247895 + Missense_Mutation SNP G G T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr1:177247895G>T ENST00000361539.4 + 7 1521 c.1209G>T c.(1207-1209)caG>caT p.Q403H FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 403 extracellular region p.Q403H(1) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 GCCATCGCCAGCCTCGCTTCC 0.622000 13 179 4.93089e-13 5.95108e-13 1 1 0 ITGA2 3673 broad.mit.edu 37 5 52368966 52368966 + Silent SNP C C T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr5:52368966C>T ENST00000296585.5 + 20 2591 c.2448C>T c.(2446-2448)gtC>gtT p.V816V NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 816 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) CCTTTATTGTCAGCAACCAAA 0.313000 4 105 0 0 1 0 0 SLITRK2 84631 broad.mit.edu 37 X 144905221 144905221 + Silent SNP C C T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chrX:144905221C>T ENST00000370490.1 + 1 5533 c.1278C>T c.(1276-1278)cgC>cgT p.R426R SLITRK2_ENST00000428560.2_Silent_p.R426R|SLITRK2_ENST00000434188.2_Silent_p.R426R|SLITRK2_ENST00000413937.2_Silent_p.R426R|SLITRK2_ENST00000447897.2_Silent_p.R426R Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 426 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) CCAGTTTACGCAGACTTTATC 0.393000 6 317 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATCTCTTTATAAAACCTT 0.343000 10 140 0 0 1 0 0 HOXA10 3206 broad.mit.edu 37 7 27211519 27211519 + Silent SNP C C T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr7:27211519C>T ENST00000283921.4 - 2 1231 c.1232G>A c.(1231-1233)tGa>tAa p.*411* HOXA10_ENST00000521421.1_5'UTR|RP1-170O19.20_ENST00000470747.4_Intron|HOXA10_ENST00000396344.4_Silent_p.*95*|RP1-170O19.20_ENST00000465941.1_Intron|HOXA-AS4_ENST00000519935.1_RNA NM_018951.3 NP_061824.3 P31260 HXA10_HUMAN homeobox A10 0 spermatogenesis protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 9 GGAGATTCATCAGGAAAAATT 0.517000 9 176 0 0 1 0 0 COLEC12 81035 broad.mit.edu 37 18 347278 347278 + Missense_Mutation SNP A A G TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr18:347278A>G ENST00000400256.3 - 5 551 c.344T>C c.(343-345)aTt>aCt p.I115T NM_130386.2 NP_569057.1 Q5KU26 COL12_HUMAN collectin sub-family member 12 115 carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) GAGATCTAGAATGTCTGATCT 0.458000 85 150 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98779374 98779374 + Missense_Mutation SNP C C T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr2:98779374C>T ENST00000477737.1 + 8 1253 c.1049C>T c.(1048-1050)aCg>aTg p.T350M VWA3B_ENST00000435344.1_Missense_Mutation_p.T350M|VWA3B_ENST00000451075.2_Missense_Mutation_p.T200M NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 350 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GCCTGCAGCACGCTGGCCCAG 0.587000 6 99 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179733928 179733928 + Silent SNP G G A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr2:179733928G>A ENST00000420890.2 - 15 2427 c.2310C>T c.(2308-2310)caC>caT p.H770H CCDC141_ENST00000295723.5_Silent_p.H195H NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 195 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TTTGATGGAAGTGAATAAGGT 0.423000 14 132 0 0 1 0 0 PER1 5187 broad.mit.edu 37 17 8047060 8047060 + Missense_Mutation SNP T T G TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr17:8047060T>G ENST00000317276.4 - 19 2833 c.2596A>C c.(2596-2598)Acc>Ccc p.T866P PER1_ENST00000578089.1_5'UTR|PER1_ENST00000581082.1_Missense_Mutation_p.T843P NM_002616.2 NP_002607.2 O15534 PER1_HUMAN period circadian clock 1 866 Pro-rich. circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity p.T866P(1) breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 GGCCAGGGGGTGGAGGGTGGC 0.667000 T ETV6 """AML, CMML""" Other conserved DNA damage response genes 9 20 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2820010 2820010 + Silent SNP G G A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr8:2820010G>A ENST00000520002.1 - 62 10164 c.9609C>T c.(9607-9609)agC>agT p.S3203S CSMD1_ENST00000602723.1_Silent_p.S3026S|CSMD1_ENST00000400186.3_Silent_p.S3026S|CSMD1_ENST00000602557.1_Silent_p.S3203S|CSMD1_ENST00000542608.1_Silent_p.S3025S|CSMD1_ENST00000537824.1_Silent_p.S3202S Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3203 Sushi 26. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTTGTATGCCGCTCCACGTGC 0.468000 3 60 0 0 1 0 0 ANKMY2 57037 broad.mit.edu 37 7 16664699 16664699 + Silent SNP T T C TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr7:16664699T>C ENST00000306999.2 - 4 522 c.279A>G c.(277-279)aaA>aaG p.K93K NM_020319.2 NP_064715.1 Q8IV38 ANKY2_HUMAN ankyrin repeat and MYND domain containing 2 93 cilium zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 23 Lung NSC(10;0.103)|all_lung(11;0.204) UCEC - Uterine corpus endometrioid carcinoma (126;0.195) ATGTGATGTCTTTATTACCTA 0.408000 33 73 0 0 1 0 0 ACTC1 70 broad.mit.edu 37 15 35083338 35083338 + Missense_Mutation SNP C C A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr15:35083338C>A ENST00000290378.4 - 6 1622 c.967G>T c.(967-969)Gct>Tct p.A323S RP11-814P5.1_ENST00000503496.1_RNA NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 323 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) GTGCTAGGAGCCAGAGCAGTG 0.448000 18 397 2.94398e-08 3.47324e-08 1 1 0 ABTB2 25841 broad.mit.edu 37 11 34378353 34378353 + Missense_Mutation SNP C C A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr11:34378353C>A ENST00000435224.2 - 1 1202 c.778G>T c.(778-780)Ggg>Tgg p.G260W ABTB2_ENST00000298992.2_Missense_Mutation_p.G74W NM_145804.2 NP_665803.2 A8K6S9 A8K6S9_HUMAN ankyrin repeat and BTB (POZ) domain containing 2 74 DNA binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) GACACCTCCCCGCCTCCGGCC 0.657000 3 36 0.115264 0.12225 1 1 0 KIF4B 285643 broad.mit.edu 37 5 154393963 154393963 + Missense_Mutation SNP T T A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr5:154393963T>A ENST00000435029.4 + 1 704 c.544T>A c.(544-546)Tta>Ata p.L182I NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 182 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GAAGACTGTTTTAGTTGCCTT 0.468000 67 239 0 0 1 0 0 GGT3P 2679 broad.mit.edu 37 22 18778601 18778601 + RNA SNP C C T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr22:18778601C>T ENST00000412448.1 - 0 804 GCTTGGCATCCGCGGCCACGG 0.627000 4 25 0 0 1 0 0 FABP7 2173 broad.mit.edu 37 6 123101489 123101489 + Missense_Mutation SNP A A C TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr6:123101489A>C ENST00000356535.4 + 2 163 c.127A>C c.(127-129)Atc>Ctc p.I43L FABP7_ENST00000368444.3_Missense_Mutation_p.I43L O15540 FABP7_HUMAN fatty acid binding protein 7, brain 43 negative regulation of cell proliferation cytoplasm lipid binding|transporter activity kidney(1)|large_intestine(1)|lung(2)|stomach(1) 5 GBM - Glioblastoma multiforme(226;0.226) Alpha-Linolenic Acid(DB00132)|gamma-Homolinolenic acid(DB00154)|Icosapent(DB00159) AACGGTAATTATCAGTCAAGA 0.463000 4 63 0 0 1 0 0 ABCB7 22 broad.mit.edu 37 X 74332726 74332726 + Missense_Mutation SNP C C G TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chrX:74332726C>G ENST00000253577.3 - 3 355 c.331G>C c.(331-333)Gaa>Caa p.E111Q ABCB7_ENST00000373394.3_Missense_Mutation_p.E110Q|ABCB7_ENST00000339447.4_Missense_Mutation_p.E110Q NM_001271696.1|NM_004299.3 NP_001258625.1|NP_004290.2 O75027 ABCB7_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 7 110 cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1) 20 CTTACCCCTTCTTTTGGGTCT 0.398000 4 190 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176640151 176640151 + Missense_Mutation SNP C C G TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr1:176640151C>G ENST00000367662.3 + 4 3201 c.2037C>G c.(2035-2037)aaC>aaG p.N679K PAPPA2_ENST00000367661.3_Missense_Mutation_p.N679K NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 679 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGCAGCTGAACAGTACTCACT 0.512000 12 366 0 0 1 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42126987 42126987 + Silent SNP G G A TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr15:42126987G>A ENST00000382448.4 + 2 123 c.114G>A c.(112-114)ccG>ccA p.P38P JMJD7_ENST00000397299.4_Silent_p.P38P|JMJD7-PLA2G4B_ENST00000542534.1_Silent_p.P38P|JMJD7_ENST00000408047.1_Intron|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.P38P|JMJD7_ENST00000405106.2_3'UTR NM_005090.3 NP_005081.1 P0C869 PA24B_HUMAN 0 C2. arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2) 25 CCCCAACTCCGCTCCACTTCT 0.607000 12 182 0 0 1 0 0 CTBS 1486 broad.mit.edu 37 1 85039999 85040007 + In_Frame_Del DEL GCAGCGCCA GCAGCGCCA - rs3217269 TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr1:85039999_85040007delGCAGCGCCA ENST00000370630.4 - 1 140_148 c.92_100delTGGCGCTGC c.(91-102)cgg>c p.LALR31del CTBS_ENST00000477677.1_5'UTR NM_004388.2 NP_004379.1 Q01459 DIAC_HUMAN chitobiase, di-N-acetyl- 31 lysosome cation binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 9 all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166) GCCGCGAGCCgcagcgccagcagcgccag 0.718 6 6 --- --- --- --- RPL5 6125 broad.mit.edu 37 1 93301834 93301837 + Frame_Shift_Del DEL CAGC CAGC - TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr1:93301834_93301837delCAGC ENST00000370321.3 + 5 502_505 c.412_415delCAGC c.(412-417)cafs p.QP138fs NM_000969.3 NP_000960.2 P46777 RL5_HUMAN ribosomal protein L5 138 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) CATTGATGGTCAGCCAGGTGCCTT 0.480 28 247 --- --- --- --- ATP6V1C2 245973 broad.mit.edu 37 2 10917819 10917820 + Frame_Shift_Del DEL AG AG - TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr2:10917819_10917820delAG ENST00000272238.4 + 11 1043_1044 c.934_935delAG c.(934-936)afs p.R312fs ATP6V1C2_ENST00000381661.3_Intron NM_001039362.1 NP_001034451.1 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 312 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) GCAGACCGACAGAGAGAGAGAG 0.604 11 218 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91899626 91899626 + RNA DEL A A - TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr2:91899626delA ENST00000436174.1 - 0 168 CCAGAGGCTCAAAAAAAAAAA 0.289 6 11 --- --- --- --- HLA-DRB6 3128 broad.mit.edu 37 6 32523362 32523363 + RNA INS - - GATA rs142676080 by1000genomes TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr6:32523362_32523363insGATA ENST00000411500.1 - 0 458 NR_001298.1 AAAGCAATGTGGATAAAGGGAC 0.431 7 13 --- --- --- --- BCKDHB 594 broad.mit.edu 37 6 80878646 80878646 + Frame_Shift_Del DEL G G - TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr6:80878646delG ENST00000545529.1 + 5 560 c.532delG c.(532-534)gafs p.G178fs BCKDHB_ENST00000369760.4_Frame_Shift_Del_p.G178fs|BCKDHB_ENST00000356489.5_Frame_Shift_Del_p.G178fs|BCKDHB_ENST00000320393.6_Frame_Shift_Del_p.G178fs P21953 ODBB_HUMAN branched chain keto acid dehydrogenase E1, beta polypeptide 178 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding p.G178*(1) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1) 15 all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149) BRCA - Breast invasive adenocarcinoma(397;0.0291) TTTTAACTGTGGAAGCCTCAC 0.498 15 160 --- --- --- --- RNF20 56254 broad.mit.edu 37 9 104314008 104314009 + Frame_Shift_Ins INS - - T TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr9:104314008_104314009insT ENST00000389120.3 + 11 1405_1406 c.1315_1316insT c.(1315-1317)tcafs p.S439fs NM_019592.5 NP_062538.5 Q5VTR2 BRE1A_HUMAN ring finger protein 20, E3 ubiquitin protein ligase 439 histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) GACTGAAGTAATTCAGCTAGAA 0.386 9 103 --- --- --- --- DUSP8 1850 broad.mit.edu 37 11 1577819 1577820 + Frame_Shift_Del DEL CG CG - rs61747093 TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr11:1577819_1577820delCG ENST00000397374.3 - 7 1933_1934 c.1806_1807delCG c.(1804-1809)cggcfs p.RG602fs DUSP8_ENST00000331588.4_Frame_Shift_Del_p.RG602fs NM_004420.2 NP_004411.2 Q13202 DUS8_HUMAN dual specificity phosphatase 8 602 inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(1)|lung(2)|prostate(1)|urinary_tract(1) 5 all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825) AGCTCCTCGCCGCGCGCGCGCC 0.752 2 4 --- --- --- --- ROBO3 64221 broad.mit.edu 37 11 124750448 124750453 + In_Frame_Del DEL CGGAGT CGGAGT - rs55725290 TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr11:124750448_124750453delCGGAGT ENST00000397801.1 + 27 4285_4290 c.4093_4098delCGGAGT c.(4093-4098)del p.RS1367del ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del|ROBO3_ENST00000525482.1_3'UTR NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 1367 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) TGgccggagccggagtcggagtcaga 0.660 4 8 --- --- --- --- MESP2 145873 broad.mit.edu 37 15 90320121 90320144 + In_Frame_Del DEL AGGGGCAGGGGCAAGGGCAGGGGC AGGGGCAGGGGCAAGGGCAGGGGC - rs56192595 TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC ENST00000341735.3 + 1 533_556 c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC c.(532-558)gag>g p.EGQGQGQGQ178del MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 178 Notch signaling pathway nucleus DNA binding p.Q198_G205delQGQGQGQG(1) kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg 0.777 6 4 --- --- --- --- CAPN15 6650 broad.mit.edu 37 16 597209 597214 + In_Frame_Del DEL AGGACA AGGACA - TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr16:597209_597214delAGGACA ENST00000219611.2 + 4 734_739 c.371_376delAGGACA c.(370-378)gag>g p.EDK124del LA16c-366D1.3_ENST00000565879.1_RNA NM_005632.2 NP_005623.1 calpain 15 GGGCAGTGCgaggacaaggacgagga 0.714 3 6 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74378976 74378976 + RNA DEL T T - rs35591542 TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr16:74378976delT ENST00000429810.2 - 0 1086 ACCTCTTGAAttttttttttt 0.418 2 4 --- --- --- --- TBC1D3P2 440452 broad.mit.edu 37 17 60347260 60347260 + RNA DEL T T - rs71816198 TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr17:60347260delT ENST00000581291.1 - 0 581 breast(2)|kidney(1)|lung(2) 5 CTCTGAATGATTTTTTTTTTT 0.448 4 3 --- --- --- --- TNFSF9 8744 broad.mit.edu 37 19 6531149 6531151 + In_Frame_Del DEL GCT GCT - TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr19:6531149_6531151delGCT ENST00000245817.3 + 1 140_142 c.102_104delGCT c.(100-105)ggg>gg p.GL34del NM_003811.3 NP_003802.1 P41273 TNFL9_HUMAN tumor necrosis factor (ligand) superfamily, member 9 34 apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 5 TGGTCGCGGGgctgctgctgctg 0.768 9 75 --- --- --- --- SUGP2 10147 broad.mit.edu 37 19 19136394 19136394 + Frame_Shift_Del DEL T T - TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr19:19136394delT ENST00000601879.1 - 3 1060 c.763delA c.(763-765)tafs p.I255fs SUGP2_ENST00000337018.6_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000452918.2_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000600377.1_Frame_Shift_Del_p.I269fs|SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000598202.1_5'UTR Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 255 mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 ACGGTGGGTATTTTTTTTGTG 0.502 7 225 --- --- --- --- CTC-260E6.6 0 broad.mit.edu 37 19 20359846 20359847 + RNA DEL GT GT - TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr19:20359846_20359847delGT ENST00000593655.1 - 0 199 TTAAGTAAAGGTGTGTGTGTGT 0.421 8 167 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38120029 38120031 + In_Frame_Del DEL CCT CCT - TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr22:38120029_38120031delCCT ENST00000406386.3 + 7 1721_1723 c.1466_1468delCCT c.(1465-1470)gcc>g p.AS489del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 489 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AATCCCAGAGCCTCCTCTCCCAG 0.601 14 353 --- --- --- --- RANGAP1 5905 broad.mit.edu 37 22 41650469 41650471 + In_Frame_Del DEL TCC TCC - TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0aee258-a42e-4e90-a4e2-cd6a1b437915 f9d419fc-603b-44bb-964c-1d80d0dddb6b g.chr22:41650469_41650471delTCC ENST00000455915.2 - 10 2570_2572 c.1101_1103delGGA c.(1099-1104)gaa>ga p.EE367del RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del|RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del|RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del P46060 RAGP1_HUMAN Ran GTPase activating protein 1 367 Asp/Glu-rich (highly acidic). mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ctcttctccttcctcctcctcct 0.562 9 275 --- --- --- ---