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 CLEC4E 26253 broad.mit.edu 37 12 8693386 8693386 + Missense_Mutation SNP G G A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr12:8693386G>A ENST00000299663.3 - 1 173 c.8C>T c.(7-9)tCa>tTa p.S3L CLEC4E_ENST00000545274.1_Missense_Mutation_p.S3L|CLEC4E_ENST00000446457.2_Missense_Mutation_p.S3L NM_014358.2 NP_055173.1 Q9ULY5 CLC4E_HUMAN C-type lectin domain family 4, member E 3 integral to membrane sugar binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Lung SC(5;0.184) TGATTTAGATGAATTCATTTT 0.363000 36 204 0 0 0.769981 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119653 38119653 + Missense_Mutation SNP C C G TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr22:38119653C>G ENST00000406386.3 + 7 1345 c.1090C>G c.(1090-1092)Ccc>Gcc p.P364A RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 364 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) GCAGGACAACCCCCAAACTTC 0.572000 36 183 0 0 0.812448 0 0 MICU3 286097 broad.mit.edu 37 8 16948087 16948087 + Silent SNP T T A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr8:16948087T>A ENST00000318063.5 + 8 924 c.882T>A c.(880-882)acT>acA p.T294T NM_181723.2 NP_859074.1 mitochondrial calcium uptake family, member 3 ATTCTCCTACTAATAGTGTAT 0.328000 13 462 0 0 0.457914 0 0 ZFAND4 93550 broad.mit.edu 37 10 46159260 46159260 + Translation_Start_Site SNP T T C TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr10:46159260T>C ENST00000374366.3 - 0 55 ZFAND4_ENST00000374371.2_De_novo_Start_OutOfFrame|ZFAND4_ENST00000335258.7_De_novo_Start_OutOfFrame|ZFAND4_ENST00000344646.5_De_novo_Start_OutOfFrame Q86XD8 ANUB1_HUMAN zinc finger, AN1-type domain 4 zinc ion binding ATTGGTAATATATATTGTTGT 0.303000 2 15 0 0 0.115264 0 0 GAREM 64762 broad.mit.edu 37 18 29890226 29890226 + Missense_Mutation SNP C C T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr18:29890226C>T ENST00000399218.4 - 3 378 c.323G>A c.(322-324)aGt>aAt p.S108N GAREM_ENST00000578619.1_5'UTR|GAREM_ENST00000269209.6_Missense_Mutation_p.S108N NM_001242409.1|NM_022751.2 NP_001229338.1|NP_073588.1 GRB2 associated, regulator of MAPK1 CTCCTCCACACTGTTGAAATA 0.418000 6 290 0 0 0.217242 0 0 ISOC1 51015 broad.mit.edu 37 5 128448671 128448671 + Missense_Mutation SNP T T A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr5:128448671T>A ENST00000173527.5 + 5 890 c.874T>A c.(874-876)Tcg>Acg p.S292T NM_016048.2 NP_057132.2 Q96CN7 ISOC1_HUMAN isochorismatase domain containing 1 292 peroxisome catalytic activity kidney(2)|lung(7) 9 all_cancers(142;0.0813)|Prostate(80;0.0865) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164) TGCTCCAGAGTCGGGTCTGCT 0.468000 38 183 0 0 0.834066 0 0 SMU1 55234 broad.mit.edu 37 9 33071759 33071759 + Missense_Mutation SNP C C G TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr9:33071759C>G ENST00000397149.3 - 3 419 c.369G>C c.(367-369)agG>agC p.R123S SMU1_ENST00000536631.1_Intron NM_018225.2 NP_060695.2 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) 123 cytoplasm|nucleus endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) CAAAGTAAGACCTGGCCAAAA 0.378000 36 134 0 0 0.819951 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105361635 105361635 + Silent SNP G G A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr8:105361635G>A ENST00000297581.2 + 2 904 c.855G>A c.(853-855)ccG>ccA p.P285P DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 285 osteoclast differentiation cell surface|integral to membrane|plasma membrane CTTTCTGGCCGACTCCTAAAG 0.478000 36 203 0 0 0.796494 0 0 C5AR1 728 broad.mit.edu 37 19 47823040 47823040 + Missense_Mutation SNP C C G TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr19:47823040C>G ENST00000355085.3 + 2 28 c.6C>G c.(4-6)gaC>gaG p.D2E NM_001736.3 NP_001727.1 P21730 C5AR_HUMAN complement component 5a receptor 1 2 D -> N (in dbSNP:rs4467185). activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) CCCCTTAGGACTCCTTCAATT 0.537000 8 117 0 0 0.335167 0 0 RPRD2 23248 broad.mit.edu 37 1 150445505 150445505 + Missense_Mutation SNP G G T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr1:150445505G>T ENST00000401000.4 + 10 4068 c.4003G>T c.(4003-4005)Ggc>Tgc p.G1335C RPRD2_ENST00000369068.4_Missense_Mutation_p.G1361C|RPRD2_ENST00000492220.1_3'UTR Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 1361 Pro-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CAACGGCCCTGGCCTTAGCCG 0.647000 15 64 3.45872e-05 3.82601e-05 0.500413 1 0 L3MBTL2 83746 broad.mit.edu 37 22 41613163 41613163 + Missense_Mutation SNP A A G TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr22:41613163A>G ENST00000216237.5 + 5 715 c.557A>G c.(556-558)aAg>aGg p.K186R RP4-756G23.5_ENST00000441316.1_RNA|RP4-756G23.5_ENST00000451176.1_RNA|L3MBTL2_ENST00000489136.1_3'UTR NM_031488.4 NP_113676.2 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 (Drosophila) 186 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AAGTTCCTGAAGGATCACAGT 0.632000 26 102 0 0 0.729181 0 0 C10orf137 26098 broad.mit.edu 37 10 127422205 127422205 + Splice_Site SNP A A T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr10:127422205A>T ENST00000337623.3 + 10 1281 c.1174_splice c.e10-1 p.A392_splice C10orf137_ENST00000356792.4_Splice_Site_p.A426_splice NM_015608.2 NP_056423.2 Q3B7T1 EDRF1_HUMAN chromosome 10 open reading frame 137 426 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) TCTTTTCAGCAAGTGGCAGCG 0.368000 15 129 0 0 0.500413 0 0 FRY 10129 broad.mit.edu 37 13 32811616 32811616 + Missense_Mutation SNP G G A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr13:32811616G>A ENST00000380250.3 + 44 6407 c.5911G>A c.(5911-5913)Gca>Aca p.A1971T NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1971 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CGGCAACACCGCAACTGCCGA 0.537000 3 47 0 0 0.115264 0 0 ACAP1 9744 broad.mit.edu 37 17 7246852 7246852 + Missense_Mutation SNP C C T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr17:7246852C>T ENST00000158762.3 + 6 705 c.499C>T c.(499-501)Cgg>Tgg p.R167W ACAP1_ENST00000573893.1_3'UTR NM_014716.3 NP_055531.1 Q15027 ACAP1_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 167 BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 AGCTGGGTACCGGGGACGGGC 0.657000 13 72 0 0 0.435327 0 0 MYO1B 4430 broad.mit.edu 37 2 192141693 192141693 + Silent SNP A A G TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr2:192141693A>G ENST00000392318.3 + 2 319 c.72A>G c.(70-72)gaA>gaG p.E24E MYO1B_ENST00000339514.4_Silent_p.E24E|MYO1B_ENST00000392316.1_Silent_p.E24E|MYO1B_ENST00000304164.4_Silent_p.E24E NM_001130158.1 NP_001123630.1 O43795 MYO1B_HUMAN myosin IB 24 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1) 55 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) TTCTTTTAGAACCTCTCAATG 0.438000 33 195 0 0 0.760397 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85460535 85460535 + Missense_Mutation SNP A A T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr12:85460535A>T ENST00000393217.2 + 10 2615 c.2554A>T c.(2554-2556)Att>Ttt p.I852F NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 852 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) GGAAAACCATATTGAGGCTAT 0.299000 20 102 0 0 0.624587 0 0 TSC22D3 1831 broad.mit.edu 37 X 106957762 106957762 + Missense_Mutation SNP C C G TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chrX:106957762C>G ENST00000372383.4 - 3 957 c.590G>C c.(589-591)gGt>gCt p.G197A TSC22D3_ENST00000315660.4_Missense_Mutation_p.G197A|TSC22D3_ENST00000372382.4_Missense_Mutation_p.G107A|TSC22D3_ENST00000372397.2_Missense_Mutation_p.G131A|TSC22D3_ENST00000506081.1_Missense_Mutation_p.G197A|TSC22D3_ENST00000514426.1_Missense_Mutation_p.G129A|TSC22D3_ENST00000372390.4_Missense_Mutation_p.G74A|TSC22D3_ENST00000372384.2_Missense_Mutation_p.G197A NM_198057.2 NP_932174.1 Q99576 T22D3_HUMAN TSC22 domain family, member 3 131 sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2)|lung(3) 6 CACCGCAGAACCACCAGGGGC 0.557000 19 35 0 0 0.557998 0 0 SYT6 148281 broad.mit.edu 37 1 114680517 114680517 + Missense_Mutation SNP G G C TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr1:114680517G>C ENST00000393296.1 - 3 748 c.671C>G c.(670-672)tCt>tGt p.S224C SYT6_ENST00000369547.1_Missense_Mutation_p.S139C Q5T7P8 SYT6_HUMAN synaptotagmin VI 224 acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GGTGGCCTCAGACTTGGCATC 0.567000 23 96 0 0 0.667858 0 0 DGKE 8526 broad.mit.edu 37 17 54939989 54939989 + Missense_Mutation SNP C C G TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr17:54939989C>G ENST00000284061.3 + 12 1721 c.1541C>G c.(1540-1542)tCc>tGc p.S514C NM_003647.2 NP_003638.1 P52429 DGKE_HUMAN diacylglycerol kinase, epsilon 64kDa 514 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 Breast(9;3.59e-07) TTGAAGTGCTCCATGATGCCA 0.438000 3 24 0 0 0.115264 0 0 FUS 2521 broad.mit.edu 37 16 31196376 31196376 + Missense_Mutation SNP G G A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr16:31196376G>A ENST00000254108.7 + 6 745 c.640G>A c.(640-642)Gga>Aga p.G214R FUS_ENST00000380244.3_Missense_Mutation_p.G213R|FUS_ENST00000568685.1_Missense_Mutation_p.G214R NM_001170634.1|NM_001170937.1|NM_004960.3 NP_001164105.1|NP_001164408.1|NP_004951.1 P35637 FUS_HUMAN fused in sarcoma 214 Gly-rich. cell death|nuclear mRNA splicing, via spliceosome nucleoplasm DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158) breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1) 22 Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121) GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209) GCAGGACCGTGGAggccgcgg 0.652000 T """DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1""" """liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma""" 3 16 0 0 0.184627 0 0 STOX1 219736 broad.mit.edu 37 10 70645316 70645316 + Silent SNP G G A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr10:70645316G>A ENST00000298596.6 + 3 1847 c.1764G>A c.(1762-1764)caG>caA p.Q588Q STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Silent_p.Q588Q|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Silent_p.Q478Q NM_152709.4 NP_689922.3 Q6ZVD7 STOX1_HUMAN storkhead box 1 588 cytoplasm|nucleolus DNA binding breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3) 28 ACCCTCAACAGAGCATGTTGC 0.393000 4 184 0 0 0.150653 0 0 MAPKAPK2 9261 broad.mit.edu 37 1 206905036 206905036 + Missense_Mutation SNP C C A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr1:206905036C>A ENST00000367103.3 + 8 1137 c.944C>A c.(943-945)aCc>aAc p.T315N MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.T315N|MAPKAPK2_ENST00000479009.1_3'UTR NM_004759.4|NM_032960.3 NP_004750.1|NP_116584.2 P49137 MAPK2_HUMAN mitogen-activated protein kinase-activated protein kinase 2 315 Protein kinase. activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 19 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) CAGAGAATGACCATCACCGAG 0.562000 46 211 1.39843e-22 1.73073e-22 0.870114 1 0 KIF20B 9585 broad.mit.edu 37 10 91514386 91514386 + Missense_Mutation SNP T T C TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr10:91514386T>C ENST00000416354.1 + 26 4621 c.4549T>C c.(4549-4551)Tat>Cat p.Y1517H KIF20B_ENST00000260753.4_Missense_Mutation_p.Y1447H|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000371728.3_Missense_Mutation_p.Y1487H|KIF20B_ENST00000394289.2_Missense_Mutation_p.Y1487H Q96Q89 KI20B_HUMAN kinesin family member 20B 1487 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 GATGAAAAAATATGCTGAGGA 0.318000 3 118 0 0 0.150653 0 0 SLC24A4 123041 broad.mit.edu 37 14 92915516 92915516 + Missense_Mutation SNP A A G TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr14:92915516A>G ENST00000532405.1 + 10 1062 c.836A>G c.(835-837)tAt>tGt p.Y279C SLC24A4_ENST00000298877.1_Missense_Mutation_p.Y262C|SLC24A4_ENST00000393265.2_Missense_Mutation_p.Y215C|SLC24A4_ENST00000531433.1_Intron|SLC24A4_ENST00000351924.5_Intron Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 279 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) AATGATTTCTATGACGGTAGC 0.498000 3 57 0 0 0.150653 0 0 DARS2 55157 broad.mit.edu 37 1 173826679 173826679 + Missense_Mutation SNP G G C TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr1:173826679G>C ENST00000361951.4 + 17 2501 c.1774G>C c.(1774-1776)Gtc>Ctc p.V592L DARS2_ENST00000471476.1_3'UTR|DARS2_ENST00000239457.5_Missense_Mutation_p.V137L NM_018122.4 NP_060592.2 Q6PI48 SYDM_HUMAN aspartyl-tRNA synthetase 2, mitochondrial 592 tRNA aminoacylation for protein translation mitochondrial matrix|nucleus aspartate-tRNA ligase activity|ATP binding|nucleic acid binding breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 30 L-Aspartic Acid(DB00128) GATATGCCTTGTCACTGGATC 0.408000 3 185 0 0 0.115264 0 0 MALAT1 378938 broad.mit.edu 37 11 65273446 65273446 + RNA SNP G G C TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr11:65273446G>C ENST00000534336.1 + 0 8214 NR_002819.2 ACTTGGCCAAGCTAGCATCTT 0.428000 23 113 0 0 0.654019 0 0 XPO7 23039 broad.mit.edu 37 8 21824497 21824497 + Missense_Mutation SNP C C A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr8:21824497C>A ENST00000434536.1 + 2 250 c.148C>A c.(148-150)Ctc>Atc p.L50I XPO7_ENST00000433566.4_Missense_Mutation_p.L51I|XPO7_ENST00000252512.9_Missense_Mutation_p.L50I|XPO7_ENST00000518017.1_3'UTR Q9UIA9 XPO7_HUMAN exportin 7 50 Importin N-terminal. mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) GTGCCAGCTACTCCTCGAAAG 0.478000 19 130 2.89027e-11 3.40833e-11 0.624587 1 0 ELAVL3 1995 broad.mit.edu 37 19 11565539 11565539 + Silent SNP C C T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr19:11565539C>T ENST00000359227.3 - 7 1330 c.906G>A c.(904-906)caG>caA p.Q302Q ELAVL3_ENST00000438662.2_Silent_p.Q295Q NM_001420.3|NM_032281.2 NP_001411.2|NP_115657.2 Q14576 ELAV3_HUMAN ELAV like neuron-specific RNA binding protein 3 302 RRM 3. cell differentiation|nervous system development AU-rich element binding|nucleotide binding breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 GCCCGAACAGCTGCCACAGCA 0.632000 3 79 0 0 0.115264 0 0 F13A1 2162 broad.mit.edu 37 6 6225028 6225028 + Silent SNP G G A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr6:6225028G>A ENST00000264870.3 - 7 1129 c.864C>T c.(862-864)gtC>gtT p.V288V NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 288 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CCGATGGGGGGACGCCATAGG 0.507000 4 157 0 0 0.184627 0 0 MYH7 4625 broad.mit.edu 37 14 23902427 23902427 + Missense_Mutation SNP C C T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr14:23902427C>T ENST00000355349.3 - 4 373 c.211G>A c.(211-213)Gtg>Atg p.V71M NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 71 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TCCTCCTTCACGGTCACTGTC 0.577000 7 85 0 0 0.278610 0 0 JMJD6 23210 broad.mit.edu 37 17 74720093 74720093 + Missense_Mutation SNP T T G TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr17:74720093T>G ENST00000445478.2 - 3 769 c.566A>C c.(565-567)gAc>gCc p.D189A JMJD6_ENST00000397625.4_Missense_Mutation_p.D189A|JMJD6_ENST00000585429.1_Missense_Mutation_p.D189A NM_001081461.1 NP_001074930.1 Q6NYC1 JMJD6_HUMAN jumonji domain containing 6 189 JmjC. mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent nucleolus|nucleoplasm histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2) 16 TCCCAGAGGGTCGATGTGAAT 0.522000 4 169 0 0 0.150653 0 0 GLRX5 51218 broad.mit.edu 37 14 96010330 96010330 + Silent SNP C C T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr14:96010330C>T ENST00000331334.4 + 2 839 c.342C>T c.(340-342)ctC>ctT p.L114L GLRX5_ENST00000553672.1_3'UTR NM_016417.2 NP_057501.2 Q86SX6 GLRX5_HUMAN glutaredoxin 5 114 Glutaredoxin. cell redox homeostasis|hemopoiesis mitochondrion 2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|protein disulfide oxidoreductase activity large_intestine(1)|lung(1) 2 all_cancers(154;0.135) Epithelial(152;0.133)|COAD - Colon adenocarcinoma(157;0.21)|all cancers(159;0.212) AAGTGTACCTCAATGGCGAGT 0.453000 35 128 0 0 0.819951 0 0 FAM86DP 692099 broad.mit.edu 37 3 75475709 75475709 + RNA SNP T T C TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr3:75475709T>C ENST00000459803.1 - 0 820 NR_024241.1 p.I261V(1) CTCCGCAGGATCCCGACCAGC 0.562000 6 31 0 0 0.278610 0 0 HOXD3 3232 broad.mit.edu 37 2 177033995 177033995 + Silent SNP A A C rs141168805 byFrequency TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr2:177033995A>C ENST00000468418.3 + 3 2243 c.153A>C c.(151-153)ccA>ccC p.P51P HOXD3_ENST00000249440.3_Silent_p.P51P|HOXD3_ENST00000410016.1_Silent_p.P51P P31249 HXD3_HUMAN homeobox D3 51 anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) AGCCCTACCCACCCCCTGCTG 0.587000 6 41 0 0 0.592651 0 0 TST 7263 broad.mit.edu 37 22 37407193 37407193 + Missense_Mutation SNP C C T rs144544206 TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr22:37407193C>T ENST00000403892.3 - 2 1503 c.769G>A c.(769-771)Gtg>Atg p.V257M TST_ENST00000249042.3_Missense_Mutation_p.V257M NM_001270483.1 NP_001257412.1 Q16762 THTR_HUMAN thiosulfate sulfurtransferase (rhodanese) 257 Rhodanese 2. cyanate catabolic process|rRNA transport mitochondrial matrix|plasma membrane 5S rRNA binding|thiosulfate sulfurtransferase activity kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1) 7 GCCAAGGCCACGTGGCAGGCG 0.647000 3 46 0 0 0.115264 0 0 DNAJC10 54431 broad.mit.edu 37 2 183584762 183584762 + Nonsense_Mutation SNP T T A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr2:183584762T>A ENST00000264065.6 + 4 648 c.233T>A c.(232-234)tTa>tAa p.L78* DNAJC10_ENST00000537515.1_Nonsense_Mutation_p.L78*|DNAJC10_ENST00000469118.1_3'UTR NM_018981.1 NP_061854.1 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 78 J. apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) GGCGATTTTTTAAAAATAAAT 0.299000 4 110 0 0 0.150653 0 0 PPP3CC 5533 broad.mit.edu 37 8 22397011 22397011 + Splice_Site SNP G G T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr8:22397011G>T ENST00000240139.5 + 13 1678 c.1351_splice c.e13+1 p.A451_splice PPP3CC_ENST00000397775.3_Splice_Site_p.A460_splice|PPP3CC_ENST00000289963.8_Intron NM_005605.4 NP_005596.2 P48454 PP2BC_HUMAN protein phosphatase 3, catalytic subunit, gamma isozyme 451 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals cytosol calmodulin binding|metal ion binding|phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Prostate(55;0.104) BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835) GGCCCGGGAAGGTATGGCCAT 0.423000 18 116 2.89027e-11 3.40833e-11 0.624587 1 0 CCT6B 10693 broad.mit.edu 37 17 33266673 33266673 + Missense_Mutation SNP C C A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr17:33266673C>A ENST00000314144.5 - 9 1143 c.1028G>T c.(1027-1029)tGc>tTc p.C343F CCT6B_ENST00000436961.3_Missense_Mutation_p.C298F|CCT6B_ENST00000421975.3_Missense_Mutation_p.C306F NM_006584.3 NP_006575.2 Q92526 TCPW_HUMAN chaperonin containing TCP1, subunit 6B (zeta 2) 343 chaperone-mediated protein complex assembly|protein folding|spermatogenesis cytoplasm ATP binding|protein transporter activity|unfolded protein binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 20 Ovarian(249;0.17) ATGTCCCAAGCAATCTACAGT 0.363000 3 95 0.115264 0.119074 0.115264 1 0 GET4 51608 broad.mit.edu 37 7 926213 926213 + Missense_Mutation SNP G G C TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr7:926213G>C ENST00000407192.1 + 2 2600 c.83G>C c.(82-84)aGt>aCt p.S28T GET4_ENST00000265857.3_Missense_Mutation_p.S81T Q7L5D6 GET4_HUMAN golgi to ER traffic protein 4 homolog (S. cerevisiae) 81 tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex protein binding breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 TAGCAAAACAGTGCAGCAGAC 0.562000 27 148 0 0 0.740014 0 0 NIPBL 25836 broad.mit.edu 37 5 37048673 37048673 + Nonsense_Mutation SNP T T A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr5:37048673T>A ENST00000282516.8 + 39 7158 c.6659T>A c.(6658-6660)tTa>tAa p.L2220* NIPBL_ENST00000448238.2_Nonsense_Mutation_p.L2220* NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2220 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) AATAATATTTTATCTGATAAG 0.348000 33 164 0 0 0.760397 0 0 KIF15 56992 broad.mit.edu 37 3 44839366 44839366 + Missense_Mutation SNP A A T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr3:44839366A>T ENST00000326047.4 + 10 1165 c.1016A>T c.(1015-1017)aAt>aTt p.N339I NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 339 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) ATAATTGCAAATGTTCATCCT 0.378000 3 113 0 0 0.217242 0 0 POLR1A 25885 broad.mit.edu 37 2 86265841 86265841 + Missense_Mutation SNP A A C TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr2:86265841A>C ENST00000263857.6 - 27 4394 c.4016T>G c.(4015-4017)cTg>cGg p.L1339R POLR1A_ENST00000409681.1_Missense_Mutation_p.L1339R O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 1339 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 CATGAAGCGCAGGATGTCCTC 0.522000 5 50 0 0 0.184627 0 0 AP2B1 163 broad.mit.edu 37 17 33935330 33935330 + Missense_Mutation SNP A A T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr17:33935330A>T ENST00000262325.7 + 5 1002 c.449A>T c.(448-450)gAt>gTt p.D150V AP2B1_ENST00000312678.8_Missense_Mutation_p.D150V|AP2B1_ENST00000589344.1_Missense_Mutation_p.D150V|AP2B1_ENST00000592545.1_Missense_Mutation_p.D112V|AP2B1_ENST00000538556.1_Missense_Mutation_p.D93V|AP2B1_ENST00000537622.2_Missense_Mutation_p.D150V NM_001282.2 NP_001273.1 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 subunit 150 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) AAACTCCATGATATCAATGCC 0.433000 41 191 0 0 0.853193 0 0 OR5K1 26339 broad.mit.edu 37 3 98188528 98188528 + Silent SNP G G A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr3:98188528G>A ENST00000332650.5 + 1 205 c.108G>A c.(106-108)ctG>ctA p.L36L NM_001004736.2 NP_001004736.2 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, member 1 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CCATCTATCTGATCACCGTGG 0.433000 57 244 0 0 0.870114 0 0 MUC4 4585 broad.mit.edu 37 3 195509378 195509378 + Missense_Mutation SNP G G C rs71291868 TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr3:195509378G>C ENST00000463781.3 - 2 9532 c.9073C>G c.(9073-9075)Ctt>Gtt p.L3025V MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L3025V|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 773 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GTGACATGAAGAGGGGTGGCG 0.582000 3 2 0 0 0.115264 0 0 DMGDH 29958 broad.mit.edu 37 5 78347129 78347129 + Silent SNP A A G TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr5:78347129A>G ENST00000255189.3 - 5 754 c.726T>C c.(724-726)aaT>aaC p.N242N DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000540686.1_Intron NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 242 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) TCACAATTCTATTTGCTCTCA 0.393000 56 329 0 0 0.870114 0 0 FAM8A1 51439 broad.mit.edu 37 6 17608559 17608559 + Missense_Mutation SNP G G T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr6:17608559G>T ENST00000259963.3 + 5 1286 c.1231G>T c.(1231-1233)Ggg>Tgg p.G411W NM_016255.2 NP_057339.1 Q9UBU6 FA8A1_HUMAN family with sequence similarity 8, member A1 411 integral to membrane endometrium(1)|large_intestine(2)|lung(3) 6 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.143) all cancers(50;0.176)|Epithelial(50;0.204) AAAAAGAAATGGGGTCAGATG 0.393000 28 144 2.12542e-12 2.57939e-12 0.706142 1 0 ANK2 287 broad.mit.edu 37 4 114277003 114277003 + Missense_Mutation SNP A A C TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr4:114277003A>C ENST00000357077.4 + 38 7282 c.7229A>C c.(7228-7230)gAa>gCa p.E2410A ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E2377A|ANK2_ENST00000510275.2_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2377 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CAAGGGTTAGAACTTGCACTC 0.522000 13 73 0 0 0.411799 0 0 ZNF451 26036 broad.mit.edu 37 6 56997884 56997884 + Silent SNP C C A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr6:56997884C>A ENST00000370706.4 + 6 713 c.469C>A c.(469-471)Cga>Aga p.R157R RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Silent_p.R157R|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000491832.2_Silent_p.R157R NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 157 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) AAGTTCATTCCGAAGAGGAGG 0.393000 4 150 0.150653 0.154358 0.150653 1 0 IK 3550 broad.mit.edu 37 5 140038746 140038746 + Missense_Mutation SNP T T A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr5:140038746T>A ENST00000417647.2 + 12 1312 c.1173T>A c.(1171-1173)gaT>gaA p.D391E NM_006083.3 NP_006074.2 Q13123 RED_HUMAN IK cytokine, down-regulator of HLA II 391 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGTAGATGATGAGGTGAGAT 0.512000 6 9 0 0 0.217242 0 0 FOXH1 8928 broad.mit.edu 37 8 145700316 145700316 + Missense_Mutation SNP C C A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr8:145700316C>A ENST00000377317.4 - 3 981 c.403G>T c.(403-405)Ggt>Tgt p.G135C FOXH1_ENST00000525197.1_5'UTR NM_003923.2 NP_003914.1 O75593 FOXH1_HUMAN forkhead box H1 135 axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway activin responsive factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD 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 factor binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CCACGCGCACCTCCGTTCTGC 0.711000 4 30 0.217242 0.220775 0.217242 1 0 PGM3 5238 broad.mit.edu 37 6 83881749 83881749 + Silent SNP C C T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr6:83881749C>T ENST00000513973.1 - 11 1388 c.1272G>A c.(1270-1272)ctG>ctA p.L424L PGM3_ENST00000512866.1_Silent_p.L424L|PGM3_ENST00000506587.1_Silent_p.L452L|PGM3_ENST00000283977.4_Silent_p.L343L NM_001199918.1|NM_015599.2 NP_001186847.1|NP_056414.1 O95394 AGM1_HUMAN phosphoglucomutase 3 424 dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 18 all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068) BRCA - Breast invasive adenocarcinoma(397;0.0478) CTTCAATCACCAGCATGTCAG 0.418000 14 86 0 0 0.435327 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 3 126 0 0 0.115264 0 0 TAOK2 9344 broad.mit.edu 37 16 29989600 29989600 + Missense_Mutation SNP C C T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr16:29989600C>T ENST00000308893.4 + 4 1275 c.232C>T c.(232-234)Cgg>Tgg p.R78W TAOK2_ENST00000543033.1_Missense_Mutation_p.R78W|TAOK2_ENST00000279394.3_Missense_Mutation_p.R78W NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 78 Protein kinase. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CAAGGAGGTGCGGTTCTTACA 0.577000 6 353 0 0 0.278610 0 0 CEP250 11190 broad.mit.edu 37 20 34091340 34091340 + Missense_Mutation SNP G G A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr20:34091340G>A ENST00000397527.1 + 30 5863 c.5143G>A c.(5143-5145)Ggc>Agc p.G1715S CEP250_ENST00000342580.4_Missense_Mutation_p.G1659S NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 1715 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GGAAGGGAAGGGCCCAAGTAA 0.572000 21 111 0 0 0.608945 0 0 SLC17A8 246213 broad.mit.edu 37 12 100774639 100774639 + Missense_Mutation SNP A A T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr12:100774639A>T ENST00000323346.5 + 2 575 c.262A>T c.(262-264)Att>Ttt p.I88F SLC17A8_ENST00000392989.3_Missense_Mutation_p.I88F NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 88 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 GGGATTCTGCATTTCCTTTGG 0.522000 5 166 0 0 0.184627 0 0 OR6C4 341418 broad.mit.edu 37 12 55945275 55945275 + Missense_Mutation SNP G G T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr12:55945275G>T ENST00000394256.2 + 1 293 c.265G>T c.(265-267)Gtt>Ttt p.V89F RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA NM_001005494.1 NP_001005494.1 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, member 4 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 AGGAAATAAAGTTATCAGCTT 0.398000 14 266 4.14922e-12 4.98704e-12 0.500413 1 0 MERTK 10461 broad.mit.edu 37 2 112786169 112786169 + Missense_Mutation SNP G G A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr2:112786169G>A ENST00000295408.4 + 19 2985 c.2728G>A c.(2728-2730)Gct>Act p.A910T MERTK_ENST00000421804.2_Missense_Mutation_p.A910T|MERTK_ENST00000409780.1_Missense_Mutation_p.A734T Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 910 cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 CACTCCCCGCGCTGCCATCAG 0.562000 28 132 0 0 0.706142 0 0 FAT4 79633 broad.mit.edu 37 4 126411764 126411764 + Missense_Mutation SNP C C A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr4:126411764C>A ENST00000394329.3 + 17 13800 c.13787C>A c.(13786-13788)aCt>aAt p.T4596N FAT4_ENST00000335110.5_Missense_Mutation_p.T2837N NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4596 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TATGATGAAACTGATATTCCT 0.498000 4 84 0.00909568 0.00963525 0.150653 1 0 ZNF226 7769 broad.mit.edu 37 19 44680231 44680231 + Silent SNP G G A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr19:44680231G>A ENST00000590089.1 + 7 1183 c.816G>A c.(814-816)caG>caA p.Q272Q ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Silent_p.Q272Q|ZNF226_ENST00000337433.5_Silent_p.Q272Q Q9NYT6 ZN226_HUMAN zinc finger protein 226 272 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) TTCATCAGCAGTTACAATCAG 0.418000 16 99 0 0 0.479597 0 0 ADCY1 107 broad.mit.edu 37 7 45743056 45743056 + Missense_Mutation SNP G G A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr7:45743056G>A ENST00000297323.7 + 15 2558 c.2536G>A c.(2536-2538)Gcc>Acc p.A846T NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 846 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) GGCCCACGTCGCCCAGCACTT 0.627000 10 36 0 0 0.479597 0 0 UBOX5 22888 broad.mit.edu 37 20 3102446 3102446 + Nonsense_Mutation SNP G G T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr20:3102446G>T ENST00000217173.2 - 3 1310 c.839C>A c.(838-840)tCa>tAa p.S280* UBOX5_ENST00000348031.2_Nonsense_Mutation_p.S280*|UBOX5-AS1_ENST00000446537.1_RNA NM_001267584.1|NM_014948.3 NP_001254513.1|NP_055763.1 O94941 RNF37_HUMAN U-box domain containing 5 280 U-box. nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 20 GACCTTGCCTGAGGGCAGCAG 0.577000 13 59 1.49906e-05 1.67306e-05 0.457914 1 0 FAM124B 79843 broad.mit.edu 37 2 225266290 225266290 + Missense_Mutation SNP C C A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr2:225266290C>A ENST00000389874.3 - 1 421 c.196G>T c.(196-198)Ggg>Tgg p.G66W FAM124B_ENST00000409685.3_Missense_Mutation_p.G66W|FAM124B_ENST00000243806.2_Missense_Mutation_p.G66W NM_024785.2 NP_079061.2 Q9H5Z6 F124B_HUMAN family with sequence similarity 124B 66 protein binding endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 16 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) ACGGACATCCCTGGAAACCGG 0.567000 3 70 0.004672 0.00503448 0.115264 1 0 THSD7A 221981 broad.mit.edu 37 7 11675781 11675781 + Missense_Mutation SNP T T C TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr7:11675781T>C ENST00000423059.3 - 2 1249 c.998A>G c.(997-999)aAg>aGg p.K333R NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 333 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TTTCCCCGTCTTGTTAATGCA 0.378000 HNSCC(18;0.044) 7 248 0 0 0.307466 0 0 GUCY2C 2984 broad.mit.edu 37 12 14804433 14804433 + Missense_Mutation SNP C C G TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr12:14804433C>G ENST00000261170.3 - 15 1754 c.1618G>C c.(1618-1620)Gac>Cac p.D540H NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 540 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 TTGTAATAGTCAATCTGAAGC 0.388000 3 129 0 0 0.184627 0 0 NDST4 64579 broad.mit.edu 37 4 115767144 115767144 + Missense_Mutation SNP G G T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr4:115767144G>T ENST00000264363.2 - 10 2628 c.1950C>A c.(1948-1950)gaC>gaA p.D650E NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 650 Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TAGGGAAAAAGTCCATATACC 0.343000 16 59 6.72482e-11 7.8561e-11 0.479597 1 0 F13A1 2162 broad.mit.edu 37 6 6152120 6152120 + Missense_Mutation SNP T T G TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr6:6152120T>G ENST00000264870.3 - 14 2236 c.1971A>C c.(1969-1971)ttA>ttC p.L657F NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 657 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) GGGTTTCTTTTAAAGGATTGG 0.468000 25 116 0 0 0.667858 0 0 KCNS2 3788 broad.mit.edu 37 8 99440853 99440853 + Missense_Mutation SNP G G A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr8:99440853G>A ENST00000287042.4 + 2 996 c.646G>A c.(646-648)Gac>Aac p.D216N KCNS2_ENST00000521839.1_Missense_Mutation_p.D216N NM_020697.2 NP_065748.1 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 216 voltage-gated potassium channel complex voltage-gated potassium channel activity autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 31 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) CCAAATCCCTGACAGCCAGGG 0.567000 32 123 0 0 0.750413 0 0 ITPK1 3705 broad.mit.edu 37 14 93483124 93483124 + Missense_Mutation SNP T T G TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr14:93483124T>G ENST00000267615.6 - 4 316 c.143A>C c.(142-144)gAg>gCg p.E48A ITPK1_ENST00000555495.1_5'UTR|ITPK1_ENST00000354313.3_Missense_Mutation_p.E48A|ITPK1_ENST00000556603.2_Missense_Mutation_p.E48A|ITPK1_ENST00000556954.1_5'UTR Q13572 ITPK1_HUMAN inositol-tetrakisphosphate 1-kinase 48 blood coagulation|inositol trisphosphate metabolic process|signal transduction cytosol ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding endometrium(1)|large_intestine(3)|lung(6)|ovary(1) 11 all_cancers(154;0.077)|all_epithelial(191;0.247) Epithelial(152;0.124)|all cancers(159;0.169) GCCCTGCTCCTCGATCGGCCG 0.582000 10 54 0 0 0.387290 0 0 ZNF609 23060 broad.mit.edu 37 15 64967791 64967791 + Missense_Mutation SNP C C A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr15:64967791C>A ENST00000326648.3 + 4 2866 c.2738C>A c.(2737-2739)cCc>cAc p.P913H NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 913 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GCTCTGAACCCCAGCAGCCAG 0.507000 19 152 8.10497e-08 9.29469e-08 0.592651 1 0 GTF3C1 2975 broad.mit.edu 37 16 27523215 27523215 + Silent SNP G G A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr16:27523215G>A ENST00000356183.4 - 7 996 c.981C>T c.(979-981)gaC>gaT p.D327D GTF3C1_ENST00000561623.1_Silent_p.D327D NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 327 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 GAACCATGACGTCGGTCCCTG 0.542000 4 86 0 0 0.150653 0 0 QSER1 79832 broad.mit.edu 37 11 32953290 32953290 + Splice_Site SNP C C A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr11:32953290C>A ENST00000399302.2 + 4 434 c.97_splice c.e4-1 p.G33_splice QSER1_ENST00000527250.1_3'UTR|QSER1_ENST00000527788.1_Splice_Site_p.G33_splice NM_001076786.1 NP_001070254.1 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 33 breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) TCTTCATAGGCATGCATTCCT 0.408000 24 116 2.39556e-15 2.93574e-15 0.639603 1 0 C10orf62 414157 broad.mit.edu 37 10 99349705 99349705 + Silent SNP A A T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr10:99349705A>T ENST00000370640.3 + 1 256 c.51A>T c.(49-51)ccA>ccT p.P17P PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370646.4_Intron|PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370647.4_Intron NM_001009997.2 NP_001009997.2 Q5T681 CJ062_HUMAN chromosome 10 open reading frame 62 17 protein binding endometrium(2)|kidney(1)|lung(1) 4 Colorectal(252;0.162) Epithelial(162;9.58e-11)|all cancers(201;8.62e-09) CTGAGTGTCCATCAGACAAGG 0.507000 20 108 0 0 0.624587 0 0 KEL 3792 broad.mit.edu 37 7 142658018 142658018 + Silent SNP G G A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr7:142658018G>A ENST00000355265.2 - 4 871 c.397C>T c.(397-399)Ctg>Ttg p.L133L KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 133 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) TCCTCACCCAGTATTCTCCGA 0.488000 42 205 0 0 0.870114 0 0 FRZB 2487 broad.mit.edu 37 2 183703339 183703339 + Missense_Mutation SNP T T C TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr2:183703339T>C ENST00000295113.4 - 4 1204 c.595A>G c.(595-597)Att>Gtt p.I199V NM_001463.3 NP_001454.2 Q92765 SFRP3_HUMAN frizzled-related protein 199 NTR. brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway cytoplasm|extracellular space|membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231) TTAGCCCGAATGACTGGGATA 0.373000 26 122 0 0 0.706142 0 0 CKAP5 9793 broad.mit.edu 37 11 46772146 46772146 + Missense_Mutation SNP T T C TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr11:46772146T>C ENST00000529230.1 - 41 5522 c.5476A>G c.(5476-5478)Aag>Gag p.K1826E CKAP5_ENST00000312055.5_Missense_Mutation_p.K1766E|CKAP5_ENST00000354558.3_Missense_Mutation_p.K1766E|CKAP5_ENST00000415402.1_Missense_Mutation_p.K1833E Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 1826 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 ACTTTGGCCTTTGATGATTTT 0.343000 3 60 0 0 0.184627 0 0 IGHV3-72 28410 broad.mit.edu 37 14 107199018 107199018 + RNA SNP T T C TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr14:107199018T>C ENST00000433072.2 - 0 350 TCTCTTGAGATGGTGAATCTG 0.512000 4 146 0 0 0.184627 0 0 PHKA1 5255 broad.mit.edu 37 X 71830970 71830970 + Nonsense_Mutation SNP C C A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chrX:71830970C>A ENST00000373545.3 - 21 2695 c.2257G>T c.(2257-2259)Gag>Tag p.E753* PHKA1_ENST00000541944.1_Nonsense_Mutation_p.E753*|PHKA1_ENST00000373539.3_Nonsense_Mutation_p.E812*|PHKA1_ENST00000373542.4_Nonsense_Mutation_p.E812*|PHKA1_ENST00000339490.3_Nonsense_Mutation_p.E812* P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 812 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) CCATACAGCTCGGTAAGAAGC 0.433000 3 70 0.115264 0.119074 0.115264 1 0 FEM1B 10116 broad.mit.edu 37 15 68582628 68582628 + Missense_Mutation SNP C C A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr15:68582628C>A ENST00000306917.4 + 2 1547 c.932C>A c.(931-933)cCt>cAt p.P311H NM_015322.3 NP_056137.1 Q9UK73 FEM1B_HUMAN fem-1 homolog b (C. elegans) 311 apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity cytoplasm|nucleus death receptor binding|ubiquitin-protein ligase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 9 TGTAGAAATCCTCAGGAACTG 0.418000 8 229 0.000157383 0.000172569 0.278610 1 0 MGA 23269 broad.mit.edu 37 15 41988785 41988785 + Missense_Mutation SNP C C T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr15:41988785C>T ENST00000219905.7 + 3 1758 c.1577C>T c.(1576-1578)tCa>tTa p.S526L MGA_ENST00000545763.1_Missense_Mutation_p.S526L|MGA_ENST00000389936.4_Missense_Mutation_p.S526L|MGA_ENST00000570161.1_Missense_Mutation_p.S526L|MGA_ENST00000566586.1_Missense_Mutation_p.S526L NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 526 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GGCAAGGAATCAGAAAATGGT 0.378000 8 64 0 0 0.307466 0 0 LVRN 206338 broad.mit.edu 37 5 115335578 115335578 + Missense_Mutation SNP T T G TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr5:115335578T>G ENST00000357872.4 + 7 1618 c.1494T>G c.(1492-1494)ttT>ttG p.F498L AQPEP_ENST00000395528.2_Missense_Mutation_p.F15L NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 498 proteolysis integral to membrane metallopeptidase activity|zinc ion binding AGGAACTCTTTGACATATTTA 0.368000 28 148 0 0 0.717897 0 0 SAMD9 54809 broad.mit.edu 37 7 92734736 92734736 + Silent SNP A A G TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr7:92734736A>G ENST00000379958.2 - 3 944 c.675T>C c.(673-675)gcT>gcC p.A225A NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 225 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) AATTCATACAAGCTGAAGCAA 0.398000 58 295 0 0 0.870114 0 0 ABCB11 8647 broad.mit.edu 37 2 169874569 169874569 + Missense_Mutation SNP C C A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr2:169874569C>A ENST00000263817.6 - 2 191 c.67G>T c.(67-69)Gat>Tat p.D23Y NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 23 bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) CATGATTTATCTGACTCAAAA 0.403000 19 163 5.35267e-07 6.08258e-07 0.557998 1 0 ZSCAN31 64288 broad.mit.edu 37 6 28297403 28297403 + Missense_Mutation SNP T T C TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr6:28297403T>C ENST00000414429.1 - 6 961 c.58A>G c.(58-60)Atc>Gtc p.I20V ZSCAN31_ENST00000344279.6_Missense_Mutation_p.I20V|ZSCAN31_ENST00000446474.1_Intron|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.I20V|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.I20V zinc finger and SCAN domain containing 31 TGGTCCCAGATAGGGTCTTCC 0.463000 32 181 0 0 0.760397 0 0 PPHLN1 51535 broad.mit.edu 37 12 42745776 42745776 + Missense_Mutation SNP T T A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr12:42745776T>A ENST00000395568.2 + 3 246 c.162T>A c.(160-162)agT>agA p.S54R PPHLN1_ENST00000549190.1_Missense_Mutation_p.S72R|PPHLN1_ENST00000358314.7_Missense_Mutation_p.S54R|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000395580.3_Missense_Mutation_p.S61R|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000337898.6_Intron|PPHLN1_ENST00000449194.2_Missense_Mutation_p.S54R|PPHLN1_ENST00000432191.2_Intron|PPHLN1_ENST00000552761.1_Intron NM_016488.6 NP_057572.5 Q8NEY8 PPHLN_HUMAN periphilin 1 54 keratinization cytoplasm|nucleus breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 16 all_cancers(12;0.00049)|Breast(8;0.165) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0875) GATATTACAGTCATGTTGATT 0.428000 14 90 0 0 0.500413 0 0 AGAP3 116988 broad.mit.edu 37 7 150831516 150831516 + Missense_Mutation SNP G G C TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr7:150831516G>C ENST00000397238.2 + 11 1356 c.1356G>C c.(1354-1356)gaG>gaC p.E452D AGAP3_ENST00000463381.1_Missense_Mutation_p.E224D NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 416 PH. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 ACGGCAAGGAGATTGACCTGC 0.622000 12 65 0 0 0.435327 0 0 RND3 390 broad.mit.edu 37 2 151326539 151326539 + Missense_Mutation SNP A A C TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr2:151326539A>C ENST00000375734.2 - 5 946 c.697T>G c.(697-699)Tta>Gta p.L233V RND3_ENST00000409557.1_Missense_Mutation_p.L104V|RND3_ENST00000263895.4_Missense_Mutation_p.L233V NM_001254738.1 NP_001241667.1 P61587 RND3_HUMAN Rho family GTPase 3 233 actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction Golgi membrane GTP binding|GTPase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.106) TCCTTTCGTAAGTCCGTAGCA 0.398000 8 188 0 0 0.278610 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664639 22664639 + RNA SNP G G A rs9306349 by1000genomes TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr22:22664639G>A ENST00000426066.1 + 0 820 NR_027293.1 CCAGCCTTCTGTAACCCAGTA 0.428000 4 87 0 0 0.184627 0 0 LLGL1 3996 broad.mit.edu 37 17 18144992 18144992 + Silent SNP C C T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr17:18144992C>T ENST00000316843.4 + 18 2826 c.2730C>T c.(2728-2730)agC>agT p.S910S NM_004140.3 NP_004131.3 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 (Drosophila) 910 cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_neural(463;0.228) AGGACATCAGCGGCATCGCTT 0.657000 5 150 0 0 0.217242 0 0 PTAR1 375743 broad.mit.edu 37 9 72338295 72338295 + Missense_Mutation SNP G G T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr9:72338295G>T ENST00000377200.5 - 4 659 c.657C>A c.(655-657)ttC>ttA p.F219L PTAR1_ENST00000340434.4_Missense_Mutation_p.F298L Q7Z6K3 PTAR1_HUMAN protein prenyltransferase alpha subunit repeat containing 1 298 protein prenylation protein prenyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2) 5 GATCAGTGCTGAATTCAACTT 0.408000 49 279 6.27289e-28 7.84111e-28 0.870114 1 0 RAD54B 25788 broad.mit.edu 37 8 95403999 95403999 + Silent SNP G G A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr8:95403999G>A ENST00000336148.5 - 10 1771 c.1647C>T c.(1645-1647)tgC>tgT p.C549C NM_012415.3 NP_036547.1 O95073 FSBP_HUMAN RAD54 homolog B (S. cerevisiae) 0 double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding p.C549C(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) CTCCTGGTCGGCAAAAGACAA 0.398000 Direct reversal of damage;Homologous recombination 5 376 0 0 0.217242 0 0 PAIP1 10605 broad.mit.edu 37 5 43556087 43556087 + Missense_Mutation SNP G G T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr5:43556087G>T ENST00000306846.3 - 2 512 c.280C>A c.(280-282)Ctg>Atg p.L94M PAIP1_ENST00000338972.4_De_novo_Start_InFrame|PAIP1_ENST00000436644.2_Missense_Mutation_p.L15M|PAIP1_ENST00000514514.1_Missense_Mutation_p.L15M NM_006451.4|NM_182789.3 NP_006442.2|NP_877590.1 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 94 Pro-rich. mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Lung NSC(6;2.07e-05) GGAGCTCTCAGGGGCCTCGTT 0.453000 75 324 2.0493e-37 2.5875e-37 0.870114 1 0 TEK 7010 broad.mit.edu 37 9 27213540 27213540 + Missense_Mutation SNP A A C TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr9:27213540A>C ENST00000380036.4 + 18 3378 c.2936A>C c.(2935-2937)aAa>aCa p.K979T TEK_ENST00000406359.4_Missense_Mutation_p.K936T|TEK_ENST00000519097.1_Missense_Mutation_p.K831T NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 979 Protein kinase. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) TATGTGGCAAAAATAGCAGAT 0.393000 18 120 0 0 0.557998 0 0 LAMC1 3915 broad.mit.edu 37 1 183093844 183093844 + Missense_Mutation SNP T T A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr1:183093844T>A ENST00000258341.4 + 14 2737 c.2480T>A c.(2479-2481)cTg>cAg p.L827Q NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 827 Laminin EGF-like 7. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTTTGCCGCCTGTGCCAGTGC 0.507000 5 76 0 0 0.278610 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 3 141 0 0 0.150653 0 0 SLC25A39 51629 broad.mit.edu 37 17 42397438 42397438 + Missense_Mutation SNP C C T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr17:42397438C>T ENST00000225308.8 - 12 1161 c.987G>A c.(985-987)atG>atA p.M329I SLC25A39_ENST00000377095.5_Missense_Mutation_p.M337I|SLC25A39_ENST00000586016.1_Missense_Mutation_p.M205I|SLC25A39_ENST00000590194.1_Missense_Mutation_p.M329I|SLC25A39_ENST00000537904.2_Missense_Mutation_p.M314I NM_016016.2 NP_057100.1 Q9BZJ4 S2539_HUMAN solute carrier family 25, member 39 337 heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 Prostate(33;0.0233) BRCA - Breast invasive adenocarcinoma(366;0.189) AGGTGCTGATCATGATGGCAC 0.617000 30 118 0 0 0.779181 0 0 CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G G T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr11:115080343G>T ENST00000537058.1 - 8 1049 c.1029C>A c.(1027-1029)acC>acA p.T343T CADM1_ENST00000542447.2_Intron|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000537140.1_Intron Q9BY67 CADM1_HUMAN cell adhesion molecule 1 343 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding p.T343T(5) cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggttgttgtgg 0.433000 5 90 0.014758 0.0155021 0.184627 1 0 SLC16A9 220963 broad.mit.edu 37 10 61413932 61413932 + Silent SNP C C T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr10:61413932C>T ENST00000395348.3 - 5 1488 c.852G>A c.(850-852)aaG>aaA p.K284K SLC16A9_ENST00000395347.1_Silent_p.K284K NM_194298.2 NP_919274.1 Q7RTY1 MOT9_HUMAN solute carrier family 16, member 9 284 urate metabolic process integral to membrane|plasma membrane symporter activity kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 23 GCCACTTCCTCTTGGCAAGCT 0.373000 45 279 0 0 0.870114 0 0 C5orf55 116349 broad.mit.edu 37 5 442720 442720 + Missense_Mutation SNP C C T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr5:442720C>T ENST00000408966.2 - 1 538 c.218G>A c.(217-219)cGc>cAc p.R73H NM_138464.2 NP_612473.1 Q8N2X6 CE055_HUMAN chromosome 5 open reading frame 55 73 extracellular region large_intestine(1)|lung(2) 3 CCAATGACTGCGCTCCTGGAG 0.602000 32 179 0 0 0.760397 0 0 ACRC 93953 broad.mit.edu 37 X 70823810 70823810 + Missense_Mutation SNP G G A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chrX:70823810G>A ENST00000373695.1 + 7 1220 c.683G>A c.(682-684)aGc>aAc p.S228N ACRC_ENST00000373696.3_Missense_Mutation_p.S228N Q96QF7 ACRC_HUMAN acidic repeat containing 228 Asp/Ser-rich. nucleus autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) CCCGACGACAGCAGTGATGAT 0.517000 6 303 0 0 0.217242 0 0 CHD1 1105 broad.mit.edu 37 5 98217770 98217770 + Missense_Mutation SNP C C T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr5:98217770C>T ENST00000284049.3 - 19 2925 c.2776G>A c.(2776-2778)Gcg>Acg p.A926T NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 926 Helicase C-terminal. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) TTCTTTTTCGCCCTTTCAAGA 0.363000 30 75 0 0 0.706142 0 0 USP1 7398 broad.mit.edu 37 1 62911028 62911028 + Missense_Mutation SNP G G C TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr1:62911028G>C ENST00000339950.4 + 6 1992 c.1177G>C c.(1177-1179)Ggt>Cgt p.G393R USP1_ENST00000371146.1_Missense_Mutation_p.G393R NM_003368.4 NP_003359.3 O94782 UBP1_HUMAN ubiquitin specific peptidase 1 393 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 19 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) CACAACTAATGGTTGTGGACT 0.343000 16 82 0 0 0.500413 0 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr19:58385762C>G ENST00000435989.2 - 3 1230 c.996G>C c.(994-996)tcG>tcC p.S332S ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 332 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.S332S(2) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 ATTTGCTAAACGATTTCCCAC 0.358000 3 15 0 0 0.115264 0 0 PNLIP 5406 broad.mit.edu 37 10 118327269 118327269 + Missense_Mutation SNP A A G TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr10:118327269A>G ENST00000369221.2 + 13 1385 c.1357A>G c.(1357-1359)Acc>Gcc p.T453A NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase 453 PLAT. lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) TAGTCCAGAAACCGTCAGGGA 0.438000 7 131 0 0 0.278610 0 0 BMS1P20 96610 broad.mit.edu 37 22 22661478 22661478 + RNA SNP T T G TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr22:22661478T>G ENST00000426066.1 + 0 368 NR_027293.1 CAGATGCGTCTGAAGAAACAT 0.488000 5 79 0 0 0.248553 0 0 INSRR 3645 broad.mit.edu 37 1 156823587 156823587 + Silent SNP C C T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr1:156823587C>T ENST00000368195.3 - 2 990 c.594G>A c.(592-594)ggG>ggA p.G198G NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 198 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AGTCAGTGTGCCCGCTGAAGG 0.612000 3 83 0 0 0.150653 0 0 ZNF518B 85460 broad.mit.edu 37 4 10445423 10445423 + Missense_Mutation SNP G G A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr4:10445423G>A ENST00000326756.3 - 3 2968 c.2530C>T c.(2530-2532)Cgg>Tgg p.R844W NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 844 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 AGTTTAGGCCGCAGAGGTGTC 0.463000 4 143 0 0 0.150653 0 0 UBR4 23352 broad.mit.edu 37 1 19407942 19407942 + Missense_Mutation SNP A A G TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr1:19407942A>G ENST00000375267.2 - 103 15137 c.15134T>C c.(15133-15135)aTc>aCc p.I5045T UBR4_ENST00000375224.1_Missense_Mutation_p.I752T|UBR4_ENST00000375254.3_Missense_Mutation_p.I5045T|UBR4_ENST00000375217.2_Missense_Mutation_p.I5038T|UBR4_ENST00000375226.2_Missense_Mutation_p.I5021T|UBR4_ENST00000375225.3_Missense_Mutation_p.I120T|UBR4_ENST00000543981.1_Missense_Mutation_p.I709T|UBR4_ENST00000429347.2_Missense_Mutation_p.I568T Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 5045 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) AGGGGGCAGGATGTGAAGGGC 0.592000 11 255 0 0 0.361761 0 0 FBXW10 10517 broad.mit.edu 37 17 18675803 18675803 + Silent SNP G G A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr17:18675803G>A ENST00000308799.4 + 11 2391 c.2172G>A c.(2170-2172)acG>acA p.T724T FBXW10_ENST00000395665.4_Silent_p.T695T|FBXW10_ENST00000301938.4_Silent_p.T642T|FBXW10_ENST00000395667.1_Silent_p.T695T|FBXW10_ENST00000573605.1_3'UTR Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 695 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Tggaaaaaacgaaacaaaaga 0.408000 57 242 0 0 0.870114 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 124 0 0 0.115264 0 0 CELSR3 1951 broad.mit.edu 37 3 48691328 48691328 + Missense_Mutation SNP C C T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr3:48691328C>T ENST00000544264.1 - 8 5541 c.5261G>A c.(5260-5262)gGc>gAc p.G1754D CELSR3_ENST00000164024.4_Missense_Mutation_p.G1754D Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 1754 EGF-like 4; calcium-binding. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ACAGTCTTTGCCGCCGAAGCC 0.602000 3 78 0 0 0.115264 0 0 LOC100506457 100506457 broad.mit.edu 37 2 12293343 12293351 + RNA DEL TTCCTTCCC TTCCTTCCC - rs112549370 TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr2:12293343_12293351delTTCCTTCCC ENST00000412294.1 + 0 197 cttcattcctttccttcccttccttccct 0.426 4 6 --- --- --- --- PASK 23178 broad.mit.edu 37 2 242079401 242079401 + Frame_Shift_Del DEL G G - TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr2:242079401delG ENST00000403638.3 - 4 590 c.499delC c.(499-501)tcfs p.L167fs PASK_ENST00000544142.1_Intron|PASK_ENST00000539818.1_Intron|PASK_ENST00000405260.1_Frame_Shift_Del_p.L167fs|PASK_ENST00000234040.4_Frame_Shift_Del_p.L167fs|PASK_ENST00000358649.4_Frame_Shift_Del_p.L167fs NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 167 PAS 1. regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) AACTGCGTGAGCTTCTGGCCA 0.582 18 43 --- --- --- --- EDEM1 9695 broad.mit.edu 37 3 5248941 5248941 + Frame_Shift_Del DEL T T - TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr3:5248941delT ENST00000256497.4 + 7 1454 c.1321delT c.(1321-1323)ttfs p.F442fs EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs NM_014674.2 NP_055489.1 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 1 442 ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) TCTGCAGGCCTTTTTCCCTGG 0.463 7 187 --- --- --- --- VHL 7428 broad.mit.edu 37 3 10188252 10188252 + Frame_Shift_Del DEL A A - TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr3:10188252delA ENST00000256474.2 + 2 1235 c.395delA c.(394-396)cafs p.Q132fs VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron NM_000551.3 NP_000542.1 P40337 VHL_HUMAN von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 132 Involved in binding to CCT complex. anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus protein binding|transcription factor binding p.T133fs*26(4)|p.N131fs*27(2)|p.Q132fs*2(1)|p.N131fs*10(1)|p.N131*(1)|p.N131fs*7(1) adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3) 1769 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) CTGGTTAACCAAACTGAATTA 0.453 1 """D, Mis, N, F, S""" """renal, hemangioma, pheochromocytoma""" """renal, hemangioma, pheochromocytoma""" von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia 51 298 --- --- --- --- LOC152578 152578 broad.mit.edu 37 4 53661752 53661765 + RNA DEL AAGAAAGAGAGAGA AAGAAAGAGAGAGA - TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr4:53661752_53661765delAAGAAAGAGAGAGA ENST00000514957.1 + 0 321 NR_040106.1 ggaaggaaggaagaaagagagagaaagaaagaga 0.407 4 2 --- --- --- --- NDST4 64579 broad.mit.edu 37 4 115767136 115767136 + Frame_Shift_Del DEL G G - TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr4:115767136delG ENST00000264363.2 - 10 2636 c.1958delC c.(1957-1959)ctfs p.P653fs NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 653 Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) GGATGGTGTAGGGAAAAAGTC 0.358 17 72 --- --- --- --- UIMC1 51720 broad.mit.edu 37 5 176395660 176395663 + Frame_Shift_Del DEL CCCT CCCT - TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr5:176395660_176395663delCCCT ENST00000377219.2 - 6 1259_1262 c.1093_1096delAGGG c.(1093-1098)cafs p.RA365fs UIMC1_ENST00000377227.4_Frame_Shift_Del_p.RA365fs|UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000511320.1_Frame_Shift_Del_p.RA365fs|UIMC1_ENST00000506128.1_Intron NM_016290.4 NP_057374.3 Q96RL1 UIMC1_HUMAN ubiquitin interaction motif containing 1 365 AIR. double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent BRCA1-A complex histone binding|K63-linked polyubiquitin binding NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 21 all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) Medulloblastoma(196;0.0145)|all_neural(177;0.0325) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAGTCAGATGCCCTAGACTCCTGC 0.441 32 357 --- --- --- --- SAMD3 154075 broad.mit.edu 37 6 130465915 130465915 + Frame_Shift_Del DEL T T - TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr6:130465915delT ENST00000368134.2 - 14 1921 c.1313delA c.(1312-1314)acfs p.N438fs SAMD3_ENST00000457563.2_Frame_Shift_Del_p.N462fs|SAMD3_ENST00000437477.2_Frame_Shift_Del_p.N438fs|SAMD3_ENST00000439090.2_Frame_Shift_Del_p.N438fs NM_001258275.1 NP_001245204.1 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 438 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) GTTGAAAGGGTTTTTAACTTC 0.403 26 98 --- --- --- --- TARID 100507308 broad.mit.edu 37 6 134013764 134013765 + RNA DEL AC AC - rs34919164 TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr6:134013764_134013765delAC ENST00000607033.1 - 0 623 RP3-323P13.2_ENST00000607573.1_RNA|RP3-323P13.2_ENST00000606544.1_RNA|RP3-323P13.2_ENST00000606292.1_RNA aaaaaaGCAAacacacacacac 0.475 3 6 --- --- --- --- CCDC132 55610 broad.mit.edu 37 7 92940514 92940527 + Frame_Shift_Del DEL AGATTACAGTCTAA AGATTACAGTCTAA - TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr7:92940514_92940527delAGATTACAGTCTAA ENST00000544910.1 + 21 1915_1928 c.1695_1708delAGATTACAGTCTAA c.(1693-1710)tcatfs p.SDYSLN565fs CCDC132_ENST00000317751.6_Frame_Shift_Del_p.SDYSLN326fs|CCDC132_ENST00000541136.1_Frame_Shift_Del_p.SDYSLN406fs|CCDC132_ENST00000305866.5_Frame_Shift_Del_p.SDYSLN595fs|CCDC132_ENST00000535481.1_Frame_Shift_Del_p.SDYSLN315fs NM_001257998.1 NP_001244927.1 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 595 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) GGAAGAAATCAGATTACAGTCTAAATAAAGTGAA 0.304 24 373 --- --- --- --- TRBV29-1 28558 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 8 10 --- --- --- --- LOC403323 403323 broad.mit.edu 37 9 66545695 66545695 + RNA DEL A A - TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr9:66545695delA ENST00000445604.2 - 0 669 CTGTAAGAGGAAAAAAAAACA 0.373 4 7 --- --- --- --- ITIH2 3698 broad.mit.edu 37 10 7786219 7786220 + Frame_Shift_Del DEL AC AC - TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr10:7786219_7786220delAC ENST00000358415.4 + 18 2550_2551 c.2384_2385delAC c.(2383-2385)gfs p.D795fs ITIH2_ENST00000379587.4_Frame_Shift_Del_p.D784fs NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 795 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TCCTGGTCCGACACGGCTCAAG 0.460 25 171 --- --- --- --- NUDT22 84304 broad.mit.edu 37 11 63997567 63997567 + RNA DEL A A - rs11364788 TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr11:63997567delA ENST00000534988.1 - 0 99 GTGACTTGGGAAAAAAAAAAA 0.498 4 7 --- --- --- --- DIAPH3 81624 broad.mit.edu 37 13 60582733 60582734 + Frame_Shift_Ins INS - - T TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr13:60582733_60582734insT ENST00000400324.4 - 9 1178_1179 c.958_959insA c.(958-960)tgafs p.*320fs DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 320 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) AAATCTGTCAATTTTTTTTTCT 0.322 8 280 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 9 116 --- --- --- --- TBC1D3P2 440452 broad.mit.edu 37 17 60347260 60347260 + RNA DEL T T - rs71816198 TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr17:60347260delT ENST00000581291.1 - 0 581 breast(2)|kidney(1)|lung(2) 5 CTCTGAATGATTTTTTTTTTT 0.448 5 8 --- --- --- --- SCAF4 57466 broad.mit.edu 37 21 33064127 33064132 + Splice_Site DEL TACCTT TACCTT - TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 451e7b1a-dbc5-4360-81fe-861b1d825ed4 26b27e79-d6a3-42f4-8c2b-a93035b1a669 g.chr21:33064127_33064132delTACCTT ENST00000286835.7 - 14 2108_2111 c.1728_splice c.e14+1 p.576_splice SCAF4_ENST00000399804.1_Splice_Site_p.576_splice|SCAF4_ENST00000434667.3_Splice_Site_p.561_splice NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 576 RRM. nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 TGTAAGACTGTACCTTTATGGATTTC 0.364 22 166 --- --- --- ---