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 SPEN 23013 broad.mit.edu 37 1 16259024 16259024 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:16259024G>C ENST00000375759.3 + 11 6493 c.6289G>C c.(6289-6291)Gat>Cat p.D2097H NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 2097 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GAAAAATGTGGATGCTGCTGT 0.517000 24 81 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51890113 51890113 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr6:51890113G>A ENST00000371117.3 - 32 4770 c.4495C>T c.(4495-4497)Ctg>Ttg p.L1499L PKHD1_ENST00000340994.4_Silent_p.L1499L NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1499 IPT/TIG 10. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) ACAGTGGTCAGAGACCCACTG 0.478000 19 84 0 0 1 0 0 PAXBP1 94104 broad.mit.edu 37 21 34117143 34117143 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr21:34117143C>T ENST00000331923.4 - 13 2339 c.2150G>A c.(2149-2151)gGa>gAa p.G717E PAXBP1_ENST00000290178.4_Missense_Mutation_p.G717E NM_016631.3 NP_057715.2 PAX3 and PAX7 binding protein 1 TGAAGGATATCCATTGATTAA 0.313000 29 71 0 0 1 0 0 RTN3 10313 broad.mit.edu 37 11 63487959 63487959 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr11:63487959G>A ENST00000377819.5 + 3 2139 c.1985G>A c.(1984-1986)aGa>aAa p.R662K RTN3_ENST00000339997.4_Missense_Mutation_p.R643K|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.R550K|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron NM_001265589.1 NP_001252518.1 O95197 RTN3_HUMAN reticulon 3 662 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 ACAGAAACCAGAGATAAAGGA 0.368000 14 40 0 0 1 0 0 VPS54 51542 broad.mit.edu 37 2 64148440 64148440 + Nonsense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:64148440G>C ENST00000409558.4 - 13 1887 c.1733C>G c.(1732-1734)tCa>tGa p.S578* VPS54_ENST00000354504.3_Nonsense_Mutation_p.S437*|VPS54_ENST00000272322.4_Nonsense_Mutation_p.S590* NM_001005739.1|NM_016516.2 NP_001005739.1|NP_057600.2 Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 homolog (S. cerevisiae) protein transport|retrograde transport, endosome to Golgi endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 27 TCCTAGCTCTGAGTCAGTTAA 0.358000 8 126 0 0 1 0 0 ACTB 60 broad.mit.edu 37 7 5568131 5568131 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr7:5568131C>T ENST00000331789.5 - 4 774 c.583G>A c.(583-585)Gag>Aag p.E195K NM_001101.3 NP_001092.1 P60709 ACTB_HUMAN actin, beta 195 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) TAGCCGCGCTCGGTGAGGATC 0.612000 12 37 0 0 1 0 0 ZDHHC11 79844 broad.mit.edu 37 5 840617 840617 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr5:840617G>C ENST00000283441.8 - 5 1160 c.777C>G c.(775-777)atC>atG p.I259M ZDHHC11_ENST00000424784.2_Missense_Mutation_p.I259M|ZDHHC11_ENST00000511539.1_Missense_Mutation_p.I46M|ZDHHC11_ENST00000503758.2_5'UTR NM_024786.2 NP_079062.1 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 259 integral to membrane acyltransferase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) TACTCAGGTAGATGTGGAAGA 0.572000 4 113 0 0 1 0 0 KIAA0195 9772 broad.mit.edu 37 17 73492500 73492500 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr17:73492500C>T ENST00000314256.7 + 24 3585 c.3191C>T c.(3190-3192)tCc>tTc p.S1064F KIAA0195_ENST00000375248.5_Missense_Mutation_p.S1074F|KIAA0195_ENST00000579208.1_Missense_Mutation_p.S715F NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 1064 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CTGCCCTGTTCCCTGACCTTT 0.622000 12 25 0 0 1 0 0 PLEK 5341 broad.mit.edu 37 2 68613706 68613706 + Nonsense_Mutation SNP C C A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:68613706C>A ENST00000234313.7 + 5 724 c.545C>A c.(544-546)tCa>tAa p.S182* NM_002664.2 NP_002655.2 P08567 PLEK_HUMAN pleckstrin 182 DEP. actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) ATGATTGCTTCATCGCTGCTC 0.522000 16 56 0.000566183 0.000577979 1 1 0 AMACR 23600 broad.mit.edu 37 5 34008105 34008105 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr5:34008105G>A ENST00000335606.6 - 1 108 c.20C>T c.(19-21)tCg>tTg p.S7L RP11-1084J3.4_ENST00000382079.3_Intron|AMACR_ENST00000382085.3_Missense_Mutation_p.S7L|AMACR_ENST00000382072.2_Missense_Mutation_p.S7L|AMACR_ENST00000502637.1_Missense_Mutation_p.S7L|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000441713.2_Missense_Mutation_p.S7L|AMACR_ENST00000382068.3_Missense_Mutation_p.S7L|AMACR_ENST00000426255.2_Missense_Mutation_p.S7L|AMACR_ENST00000512079.1_Missense_Mutation_p.S7L NM_001167595.1|NM_014324.5 NP_001161067.1|NP_055139.4 Q9UHK6 AMACR_HUMAN alpha-methylacyl-CoA racemase 7 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase mitochondrion|peroxisomal matrix alpha-methylacyl-CoA racemase activity endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 19 CTCCACGACCGAGATGCCCTG 0.692000 20 29 0 0 1 0 0 PARP1 142 broad.mit.edu 37 1 226549209 226549209 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:226549209C>T ENST00000366794.5 - 23 3140 c.2997G>A c.(2995-2997)ctG>ctA p.L999L PARP1_ENST00000490921.1_5'UTR NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 999 PARP catalytic. cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) GCAGATACTTCAGATTTACCT 0.463000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 17 25 0 0 1 0 0 C12orf66 144577 broad.mit.edu 37 12 64588323 64588323 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr12:64588323G>C ENST00000311915.8 - 3 664 c.637C>G c.(637-639)Ctg>Gtg p.L213V C12orf66_ENST00000544871.1_Missense_Mutation_p.L160V|C12orf66_ENST00000398055.3_Missense_Mutation_p.L213V Q96MD2 CL066_HUMAN chromosome 12 open reading frame 66 213 central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1) 5 AAATTAACCAGAGATGGGAGG 0.522000 10 41 0 0 1 0 0 SPOPL 339745 broad.mit.edu 37 2 139310159 139310159 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:139310159G>A ENST00000280098.4 + 5 767 c.388G>A c.(388-390)Gac>Aac p.D130N NM_001001664.2 NP_001001664.1 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 130 MATH. nucleus p.D130Y(1) breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2) 21 BRCA - Breast invasive adenocarcinoma(221;0.0296) GCAAGGGAAGGACTGGGGTTT 0.348000 7 53 0 0 1 0 0 NEIL1 79661 broad.mit.edu 37 15 75641616 75641616 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr15:75641616G>A ENST00000564784.1 + 3 999 c.370G>A c.(370-372)Gac>Aac p.D124N NEIL1_ENST00000569035.1_Missense_Mutation_p.D124N|NEIL1_ENST00000567959.1_Intron|NEIL1_ENST00000355059.4_Missense_Mutation_p.D124N Q96FI4 NEIL1_HUMAN nei endonuclease VIII-like 1 (E. coli) 124 base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress cytoplasm|nucleus damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1) 13 CGGCCGCTGGGACCTTGGGGG 0.672000 Base excision repair (BER), DNA glycosylases 9 38 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101801874 101801874 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr7:101801874G>C ENST00000360264.3 + 9 762 c.742G>C c.(742-744)Gaa>Caa p.E248Q CUX1_ENST00000550008.2_Missense_Mutation_p.E237Q|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Missense_Mutation_p.E237Q|CUX1_ENST00000549414.2_Missense_Mutation_p.E237Q|CUX1_ENST00000292535.7_Missense_Mutation_p.E237Q|CUX1_ENST00000547394.2_Missense_Mutation_p.E232Q|CUX1_ENST00000425244.2_Missense_Mutation_p.E202Q|CUX1_ENST00000556210.1_Missense_Mutation_p.E237Q|CUX1_ENST00000292538.4_Missense_Mutation_p.E248Q|CUX1_ENST00000393824.3_Missense_Mutation_p.E211Q|CUX1_ENST00000437600.4_Missense_Mutation_p.E248Q NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 237 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 GACGGACCTTGAAAGGGCAAA 0.552000 7 70 0 0 1 0 0 ODC1 4953 broad.mit.edu 37 2 10582221 10582221 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:10582221C>G ENST00000234111.4 - 9 1340 c.830G>C c.(829-831)aGa>aCa p.R277T ODC1_ENST00000405333.1_Missense_Mutation_p.R277T NM_002539.1 NP_002530.1 P11926 DCOR_HUMAN ornithine decarboxylase 1 277 polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus cytosol ornithine decarboxylase activity|protein binding NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161) Pyridoxal Phosphate(DB00114)|Spermine(DB00127) AACATAGTATCTGCCGGGCTC 0.433000 6 62 0 0 1 0 0 HOXD10 3236 broad.mit.edu 37 2 176983908 176983908 + Missense_Mutation SNP G G T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:176983908G>T ENST00000249501.4 + 2 1227 c.972G>T c.(970-972)atG>atT p.M324I HOXD10_ENST00000490088.2_3'UTR NM_002148.3 NP_002139.2 P28358 HXD10_HUMAN homeobox D10 324 nucleus sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) TCAAGAAGATGAGCCGAGAGA 0.567000 12 47 1.08611e-07 1.16823e-07 1 1 0 UBR4 23352 broad.mit.edu 37 1 19513964 19513964 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:19513964G>C ENST00000375267.2 - 12 1468 c.1465C>G c.(1465-1467)Caa>Gaa p.Q489E UBR4_ENST00000375217.2_Missense_Mutation_p.Q489E|UBR4_ENST00000375226.2_Missense_Mutation_p.Q489E|UBR4_ENST00000375254.3_Missense_Mutation_p.Q489E Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 489 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) TGTAGGTCTTGAAAGAGAGAC 0.458000 29 61 0 0 1 0 0 ABHD13 84945 broad.mit.edu 37 13 108882430 108882430 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr13:108882430G>C ENST00000375898.3 + 2 1165 c.864G>C c.(862-864)aaG>aaC p.K288N NM_032859.2 NP_116248.2 Q7L211 ABHDD_HUMAN abhydrolase domain containing 13 288 integral to membrane hydrolase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) CTCGGACTAAGAGATTAGCCA 0.418000 16 61 0 0 1 0 0 ZAK 51776 broad.mit.edu 37 2 174130883 174130883 + Nonsense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:174130883C>G ENST00000375213.3 + 20 1886 c.1808C>G c.(1807-1809)tCa>tGa p.S603* MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Nonsense_Mutation_p.S603* NM_016653.2 NP_057737.2 CCGTTCTTCTCACACTTTGAT 0.512000 55 16 0 0 1 0 0 RPL19 6143 broad.mit.edu 37 17 37360818 37360818 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr17:37360818C>G ENST00000579260.1 + 6 905 c.502C>G c.(502-504)Cgc>Ggc p.R168G RPL19_ENST00000225430.4_Missense_Mutation_p.R170G|RPL19_ENST00000579374.1_Missense_Mutation_p.R167G|RPL19_ENST00000582193.1_Missense_Mutation_p.R168G P84098 RL19_HUMAN ribosomal protein L19 170 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|structural constituent of ribosome kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 CAAGGAAGCACGCAAGCGCCG 0.527000 3 73 0 0 1 0 0 LGR6 59352 broad.mit.edu 37 1 202287145 202287145 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:202287145G>A ENST00000367278.3 + 18 1803 c.1714G>A c.(1714-1716)Gtg>Atg p.V572M LGR6_ENST00000439764.2_Missense_Mutation_p.V433M|LGR6_ENST00000255432.7_Missense_Mutation_p.V520M NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 572 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 GTGGGCCATCGTGTTGCTCTC 0.612000 23 53 0 0 1 0 0 SHKBP1 92799 broad.mit.edu 37 19 41086747 41086747 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:41086747G>A ENST00000291842.5 + 9 798 c.749G>A c.(748-750)gGg>gAg p.G250E SHKBP1_ENST00000600733.1_Missense_Mutation_p.G250E NM_138392.3 NP_612401.2 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 250 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GTGCATGGTGGGGCTTTGGGT 0.627000 8 81 0 0 1 0 0 KDM3A 55818 broad.mit.edu 37 2 86693697 86693697 + Nonsense_Mutation SNP G G T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:86693697G>T ENST00000409556.1 + 11 1575 c.1210G>T c.(1210-1212)Gag>Tag p.E404* KDM3A_ENST00000542128.1_Nonsense_Mutation_p.E352*|KDM3A_ENST00000312912.5_Nonsense_Mutation_p.E404*|KDM3A_ENST00000409064.1_Nonsense_Mutation_p.E404* Q9Y4C1 KDM3A_HUMAN lysine (K)-specific demethylase 3A 404 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 47 AAACAGATTGGAGTCTGTTCC 0.448000 22 77 1.9806e-07 2.12517e-07 1 1 0 KIF9 64147 broad.mit.edu 37 3 47307254 47307254 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr3:47307254C>T ENST00000335044.2 - 8 1239 c.882G>A c.(880-882)caG>caA p.Q294Q KIF9_ENST00000452770.2_Silent_p.Q294Q|KIF9_ENST00000265529.3_Silent_p.Q294Q|KIF9_ENST00000444589.2_Silent_p.Q294Q|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000352910.4_Silent_p.Q201Q NM_001134878.1|NM_182902.3 NP_001128350.1|NP_878905.2 Q9HAQ2 KIF9_HUMAN kinesin family member 9 294 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2) 34 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) TGAGCTTGCACTGCCGAAAGG 0.582000 13 44 0 0 1 0 0 ICAM5 7087 broad.mit.edu 37 19 10401846 10401846 + Missense_Mutation SNP C C T rs11669397 TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:10401846C>T ENST00000221980.4 + 2 244 c.181C>T c.(181-183)Cgg>Tgg p.R61W ICAM5_ENST00000586004.1_3'UTR NM_003259.3 NP_003250.3 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5, telencephalin 61 Ig-like C2-type 1. cell-cell adhesion integral to plasma membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) CAACTGCCCTCGGCCGGAGCG 0.701000 7 27 0 0 1 0 0 MFSD5 84975 broad.mit.edu 37 12 53647946 53647946 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr12:53647946G>A ENST00000534842.1 + 2 1795 c.1648G>A c.(1648-1650)Gag>Aag p.E550K MFSD5_ENST00000329548.4_Missense_Mutation_p.E443K NM_001170790.1 NP_001164261.1 Q6N075 MFSD5_HUMAN major facilitator superfamily domain containing 5 443 transport integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1) 16 TTCACCTACTGAGGAGCCCTA 0.547000 11 37 0 0 1 0 0 CSRNP3 80034 broad.mit.edu 37 2 166533036 166533036 + Nonsense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:166533036C>G ENST00000314499.7 + 6 999 c.623C>G c.(622-624)tCa>tGa p.S208* CSRNP3_ENST00000409420.1_Nonsense_Mutation_p.S240*|CSRNP3_ENST00000342316.4_Nonsense_Mutation_p.S208* NM_001172173.1 NP_001165644.1 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 208 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2) 33 ATCCGCCTCTCACGAGAGGAC 0.532000 18 52 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32740707 32740707 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:32740707C>T ENST00000421745.2 + 55 11353 c.11219C>T c.(11218-11220)tCa>tTa p.S3740L NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 3740 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) AGTGCAAGATCAGCTTCTCTT 0.448000 17 61 0 0 1 0 0 MAPK10 5602 broad.mit.edu 37 4 86952551 86952551 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr4:86952551C>T ENST00000395169.3 - 12 1750 c.1030G>A c.(1030-1032)Gaa>Aaa p.E344K MAPK10_ENST00000395160.3_Missense_Mutation_p.E237K|MAPK10_ENST00000395166.1_Missense_Mutation_p.E344K|MAPK10_ENST00000395157.3_Missense_Mutation_p.E237K|MAPK10_ENST00000449047.2_Missense_Mutation_p.E237K|MAPK10_ENST00000359221.3_Missense_Mutation_p.E382K|MAPK10_ENST00000361569.2_Missense_Mutation_p.E382K|MAPK10_ENST00000395161.2_Missense_Mutation_p.E382K NM_138980.2|NM_138982.2 NP_620446.1|NP_620448.1 P53779 MK10_HUMAN mitogen-activated protein kinase 10 382 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|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|JUN kinase activity|MAP kinase kinase activity|protein binding breast(1)|central_nervous_system(1)|stomach(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) TGTTCTCTTTCATCCAACTGC 0.313000 4 16 0 0 1 0 0 HIBADH 11112 broad.mit.edu 37 7 27570820 27570820 + Silent SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr7:27570820G>C ENST00000265395.2 - 7 1049 c.843C>G c.(841-843)ctC>ctG p.L281L NM_152740.3 NP_689953.1 P31937 3HIDH_HUMAN 3-hydroxyisobutyrate dehydrogenase 281 branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process mitochondrial matrix 3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1) 12 GBM - Glioblastoma multiforme(3;0.0368) NADH(DB00157) CCTTAGCCATGAGTGTTGTTC 0.438000 5 44 0 0 1 0 0 ME1 4199 broad.mit.edu 37 6 83926234 83926234 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr6:83926234G>C ENST00000369705.3 - 13 1647 c.1531C>G c.(1531-1533)Ctg>Gtg p.L511V ME1_ENST00000543031.1_Missense_Mutation_p.L436V|ME1_ENST00000541327.1_Missense_Mutation_p.L345V NM_002395.4 NP_002386.1 P48163 MAOX_HUMAN malic enzyme 1, NADP(+)-dependent, cytosolic 511 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) GCAATTTTCAGAGAAACATCT 0.323000 9 66 0 0 1 0 0 ACADM 34 broad.mit.edu 37 1 76211508 76211508 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:76211508G>A ENST00000370841.4 + 8 1054 c.617G>A c.(616-618)cGt>cAt p.R206H ACADM_ENST00000420607.2_Missense_Mutation_p.R210H|ACADM_ENST00000370834.5_Missense_Mutation_p.R239H|ACADM_ENST00000543667.1_Missense_Mutation_p.R17H|ACADM_ENST00000541113.1_Missense_Mutation_p.R170H NM_000016.4|NM_001127328.1 NP_000007.1|NP_001120800.1 P11310 ACADM_HUMAN acyl-CoA dehydrogenase, C-4 to C-12 straight chain 206 R -> L (in ACADMD). carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process mitochondrial matrix flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 18 TTATTGGCACGTTCTGATCCA 0.383000 14 93 0 0 1 0 0 RPS7 6201 broad.mit.edu 37 2 3628398 3628398 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:3628398G>A ENST00000304921.5 + 7 675 c.511G>A c.(511-513)Gaa>Aaa p.E171K RPS7_ENST00000403564.1_Missense_Mutation_p.E171K|RPS7_ENST00000406376.1_Missense_Mutation_p.E171K NM_001011.3 NP_001002.1 P62081 RS7_HUMAN ribosomal protein S7 171 endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription 90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome protein binding|RNA binding|structural constituent of ribosome endometrium(1)|lung(2)|urinary_tract(1) 4 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208) CTTGTAGGTTGAAACTTTTTC 0.318000 8 24 0 0 1 0 0 GRM5 2915 broad.mit.edu 37 11 88780504 88780504 + Silent SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr11:88780504C>G ENST00000418177.2 - 2 904 c.537G>C c.(535-537)ctG>ctC p.L179L GRM5_ENST00000393294.3_Silent_p.L179L|GRM5_ENST00000305432.5_Silent_p.L179L|GRM5_ENST00000305447.4_Silent_p.L179L|GRM5_ENST00000393297.1_Silent_p.L179L|GRM5_ENST00000455756.2_Silent_p.L179L P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 179 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) TCTTGTCACTCAGATCCATGC 0.483000 12 30 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124376385 124376385 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr3:124376385G>C ENST00000291478.5 + 7 1022 c.859G>C c.(859-861)Gac>Cac p.D287H KALRN_ENST00000428018.2_Missense_Mutation_p.D255H|KALRN_ENST00000360013.3_Missense_Mutation_p.D1984H|KALRN_ENST00000459915.1_Missense_Mutation_p.D76H|KALRN_ENST00000393496.1_Missense_Mutation_p.D325H NM_007064.3 NP_008995.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TCAGATTTATGACTGGCATAA 0.478000 6 20 0 0 1 0 0 PARPBP 55010 broad.mit.edu 37 12 102558247 102558247 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr12:102558247C>T ENST00000327680.2 + 6 747 c.284C>T c.(283-285)tCa>tTa p.S95L PARPBP_ENST00000543784.1_Missense_Mutation_p.S62L|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000392911.2_Missense_Mutation_p.S95L|PARPBP_ENST00000541394.1_Missense_Mutation_p.S253L|PARPBP_ENST00000358383.5_Missense_Mutation_p.S176L|PARPBP_ENST00000378128.3_Missense_Mutation_p.S176L NM_017915.3 NP_060385.3 Q9NWS1 PR1BP_HUMAN PARP1 binding protein 176 response to DNA damage stimulus cytoplasm|nucleus DNA binding endometrium(1)|lung(8)|urinary_tract(2) 11 ATTATCTTTTCATATTTAAAT 0.338000 11 52 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28737471 28737471 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr18:28737471G>A ENST00000257197.3 - 3 475 c.214C>T c.(214-216)Cta>Tta p.L72L RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Silent_p.L72L NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 72 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) CCATCTTCTAGAATTCTGAAG 0.443000 3 35 0 0 1 0 0 OR56A1 120796 broad.mit.edu 37 11 6047990 6047990 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr11:6047990C>G ENST00000316650.5 - 1 981 c.945G>C c.(943-945)caG>caC p.Q315H NM_001001917.2 NP_001001917.2 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, member 1 315 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2) 33 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACCTCCCTCTCTGCAGTAACT 0.428000 5 33 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128294303 128294303 + Splice_Site SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr6:128294303C>G ENST00000368227.3 - 30 4551 c.e30-1 PTPRK_ENST00000368226.4_Splice_Site|PTPRK_ENST00000368207.3_Splice_Site|PTPRK_ENST00000368210.3_Splice_Site|PTPRK_ENST00000368213.5_Splice_Site|PTPRK_ENST00000532331.1_Splice_Site|PTPRK_ENST00000368215.3_Splice_Site Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) GCCACCATTTCTGAAAGCAAA 0.408000 17 31 0 0 1 0 0 STAT4 6775 broad.mit.edu 37 2 192011375 192011375 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:192011375C>G ENST00000392320.2 - 3 551 c.237G>C c.(235-237)ttG>ttC p.L79F STAT4_ENST00000358470.4_Missense_Mutation_p.L79F|STAT4_ENST00000409995.1_Missense_Mutation_p.L79F NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 79 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) GATTGTGTATCAAGAGTAGGT 0.313000 3 23 0 0 1 0 0 AP2B1 163 broad.mit.edu 37 17 33951560 33951560 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr17:33951560G>C ENST00000262325.7 + 6 1223 c.670G>C c.(670-672)Gac>Cac p.D224H AP2B1_ENST00000538556.1_Missense_Mutation_p.D167H|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000592545.1_Missense_Mutation_p.D186H|AP2B1_ENST00000589344.1_Missense_Mutation_p.D224H|AP2B1_ENST00000312678.8_Missense_Mutation_p.D224H|AP2B1_ENST00000537622.2_Missense_Mutation_p.D224H NM_001282.2 NP_001273.1 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 subunit 224 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) TTTCATCCTGGACTGCCTGTC 0.463000 34 54 0 0 1 0 0 WASF2 10163 broad.mit.edu 37 1 27734817 27734817 + Nonsense_Mutation SNP C C A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:27734817C>A ENST00000430629.2 - 9 1578 c.1363G>T c.(1363-1365)Gag>Tag p.E455* WASF2_ENST00000536657.1_3'UTR NM_001201404.1|NM_006990.3 NP_001188333.1|NP_008921.1 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 455 actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 18 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) TCCCGCTGCTCCTCAACCCTG 0.542000 8 39 1.12685e-05 1.18319e-05 1 1 0 SLITRK4 139065 broad.mit.edu 37 X 142716795 142716795 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chrX:142716795C>G ENST00000381779.4 - 2 2355 c.2130G>C c.(2128-2130)atG>atC p.M710I SLITRK4_ENST00000338017.4_Missense_Mutation_p.M710I|SLITRK4_ENST00000356928.1_Missense_Mutation_p.M710I NM_001184749.2|NM_001184750.1|NM_173078.4 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 710 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) GATCTGAAAACATGAACCCAG 0.413000 12 33 0 0 1 0 0 FAM228A 653140 broad.mit.edu 37 2 24413285 24413285 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:24413285G>A ENST00000295150.3 + 6 492 c.406G>A c.(406-408)Gaa>Aaa p.E136K RP11-507M3.1_ENST00000584973.1_3'UTR NM_001040710.1 NP_001035800.1 family with sequence similarity 228, member A TCACAGTCCTGAAAAGCTCAT 0.403000 5 17 0 0 1 0 0 ITPKA 3706 broad.mit.edu 37 15 41794614 41794614 + Silent SNP C C A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr15:41794614C>A ENST00000260386.5 + 5 1076 c.1023C>A c.(1021-1023)tcC>tcA p.S341S NM_002220.2 NP_002211.1 P23677 IP3KA_HUMAN inositol-trisphosphate 3-kinase A 341 signal transduction ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity p.S341S(1) kidney(1)|lung(3)|skin(1) 5 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) CGGACGGCTCCTGCAGCACCG 0.612000 16 38 3.41278e-10 3.74387e-10 1 1 0 PTCHD3 374308 broad.mit.edu 37 10 27687761 27687761 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr10:27687761C>T ENST00000438700.3 - 4 1883 c.1766G>A c.(1765-1767)aGa>aAa p.R589K NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 589 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 AAAATAGTCTCTAAAAAACAA 0.368000 18 41 0 0 1 0 0 CREB3 10488 broad.mit.edu 37 9 35732887 35732887 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr9:35732887C>T ENST00000353704.2 + 1 556 c.118C>T c.(118-120)Ccg>Tcg p.P40S CREB3_ENST00000486056.1_3'UTR NM_006368.4 NP_006359.3 O43889 CREB3_HUMAN cAMP responsive element binding protein 3 40 Transcription activation (acidic). chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1) 9 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GBM - Glioblastoma multiforme(74;0.0285) CTGGGCGCTGCCGCTTTCTGA 0.587000 20 61 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21235182 21235182 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:21235182G>A ENST00000233242.1 - 26 4685 c.4558C>T c.(4558-4560)Ctg>Ttg p.L1520L NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 1520 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTAAACCTCAGGTTGGACTCT 0.507000 13 39 0 0 1 0 0 HIST1H2BE 8344 broad.mit.edu 37 6 26184245 26184245 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr6:26184245C>T ENST00000356530.3 + 1 288 c.222C>T c.(220-222)atC>atT p.I74I NM_003523.2 NP_003514.2 P62807 H2B1C_HUMAN histone cluster 1, H2be 74 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding endometrium(1)|large_intestine(2)|lung(1) 4 TCGAGCGCATCGCCGGCGAGG 0.607000 17 93 0 0 1 0 0 SUOX 6821 broad.mit.edu 37 12 56397910 56397910 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr12:56397910C>T ENST00000394109.3 + 3 1461 c.737C>T c.(736-738)tCc>tTc p.S246F SUOX_ENST00000551841.2_Intron|SUOX_ENST00000266971.3_Missense_Mutation_p.S246F|SUOX_ENST00000394115.2_Missense_Mutation_p.S246F|SUOX_ENST00000356124.4_Missense_Mutation_p.S246F|SUOX_ENST00000548274.1_Missense_Mutation_p.S246F P51687 SUOX_HUMAN sulfite oxidase 246 Molybdenum-pterin domain (By similarity). mitochondrial intermembrane space electron carrier activity|molybdenum ion binding|sulfite oxidase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6) 15 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119) CTGTCTCTTTCCCTGGATGAC 0.517000 4 82 0 0 1 0 0 CLMP 79827 broad.mit.edu 37 11 122945490 122945490 + Silent SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr11:122945490C>G ENST00000448775.2 - 6 1081 c.741G>C c.(739-741)ctG>ctC p.L247L CLMP_ENST00000530371.1_5'UTR NM_024769.2 NP_079045.1 Q9H6B4 CLMP_HUMAN CXADR-like membrane protein 247 integral to membrane|tight junction endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 14 AGAGGAAAATCAGCAGGGCTC 0.453000 19 58 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98802774 98802774 + Missense_Mutation SNP C C A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr10:98802774C>A ENST00000266058.4 - 20 2293 c.2048G>T c.(2047-2049)gGa>gTa p.G683V SLIT1_ENST00000371070.4_Missense_Mutation_p.G683V|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 683 LRRCT 3. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) TAGCCAGCCTCCTAGCCAGGC 0.622000 4 15 0.00024832 0.000254672 1 1 0 KCNK4 50801 broad.mit.edu 37 11 64064472 64064472 + Splice_Site SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr11:64064472C>T ENST00000539216.1 + 2 672 c.312C>T c.(310-312)atC>atT p.I104I KCNK4_ENST00000394525.2_Splice_Site_p.I104I|KCNK4_ENST00000539651.1_3'UTR|KCNK4_ENST00000538767.1_Splice_Site_p.S38L|KCNK4_ENST00000422670.2_Splice_Site_p.I104I|RP11-783K16.10_ENST00000539086.1_RNA Q9NYG8 KCNK4_HUMAN potassium channel, subfamily K, member 4 104 integral to membrane potassium channel activity|voltage-gated ion channel activity breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1) 10 TCACCACCATCGGTGGGGGAG 0.642000 8 30 0 0 1 0 0 TXNDC2 84203 broad.mit.edu 37 18 9887762 9887762 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr18:9887762C>G ENST00000357775.5 + 2 1320 c.1085C>G c.(1084-1086)tCc>tGc p.S362C TXNDC2_ENST00000306084.6_Missense_Mutation_p.S429C|TXNDC2_ENST00000536353.2_3'UTR NM_032243.5 NP_115619.4 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GCCACCCCATCCAAGGAGGGT 0.542000 22 43 0 0 1 0 0 PCYT1A 5130 broad.mit.edu 37 3 195956929 195956929 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr3:195956929C>T ENST00000419333.1 - 9 1108 c.1099G>A c.(1099-1101)Gaa>Aaa p.E367K SLC51A_ENST00000296327.5_Silent_p.F259F P49585 PCY1A_HUMAN phosphate cytidylyltransferase 1, choline, alpha 0 cytosol|soluble fraction choline-phosphate cytidylyltransferase activity cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1) 18 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122) TTGCTCTGTTCCAGGTAACTA 0.517000 3 15 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40947005 40947005 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr17:40947005C>T ENST00000246914.5 + 14 2587 c.2566C>T c.(2566-2568)Cca>Tca p.P856S NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 856 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) AAATCCCTCTCCACACCCCAC 0.587000 13 29 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56320531 56320531 + Missense_Mutation SNP C C A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:56320531C>A ENST00000443188.1 - 5 2155 c.1445G>T c.(1444-1446)aGa>aTa p.R482I NLRP11_ENST00000592953.1_Missense_Mutation_p.R383I|NLRP11_ENST00000589824.2_Missense_Mutation_p.R482I|NLRP11_ENST00000360133.3_Missense_Mutation_p.R482I|NLRP11_ENST00000589093.1_Missense_Mutation_p.R482I NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 482 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) GTATTGTTCTCTCTTCTCTTT 0.398000 10 91 6.40141e-05 6.65807e-05 1 1 0 OR6K3 391114 broad.mit.edu 37 1 158687705 158687705 + Silent SNP G G T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:158687705G>T ENST00000368146.1 - 1 248 c.249C>A c.(247-249)tcC>tcA p.S83S OR6K3_ENST00000368145.1_Silent_p.S67S Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) TCTCCAGAAAGGAAAATATAC 0.408000 9 130 3.86212e-05 4.03601e-05 1 1 0 TTN 7273 broad.mit.edu 37 2 179590572 179590572 + Nonsense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:179590572G>C ENST00000589042.1 - 70 20701 c.20477C>G c.(20476-20478)tCa>tGa p.S6826* TTN_ENST00000342992.6_Nonsense_Mutation_p.S5582*|TTN_ENST00000591111.1_Nonsense_Mutation_p.S6509*|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6509 Ig-like 50. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACCGATGTCTGAAGTGTCCAC 0.393000 7 32 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71490759 71490759 + Missense_Mutation SNP C C A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr5:71490759C>A ENST00000296755.7 + 5 1875 c.1577C>A c.(1576-1578)cCc>cAc p.P526H NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 526 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GGCCAGGTGCCCACTCCTGTG 0.512000 10 21 1.76689e-08 1.9145e-08 1 1 0 DPY19L2P1 554236 broad.mit.edu 37 7 35131480 35131480 + RNA SNP A A T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr7:35131480A>T ENST00000436258.1 - 0 1889 ATCTTCGTAAAGTGGATGATT 0.423000 3 46 0 0 1 0 0 H2AFJ 55766 broad.mit.edu 37 12 14927678 14927678 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr12:14927678G>C ENST00000544848.1 + 1 409 c.274G>C c.(274-276)Gag>Cag p.E92Q NM_177925.2 NP_808760.1 Q9BTM1 H2AJ_HUMAN H2A histone family, member J 92 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1) 5 CCGCAACGACGAGGAGTTAAA 0.612000 8 44 0 0 1 0 0 EPAS1 2034 broad.mit.edu 37 2 46588116 46588116 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:46588116C>T ENST00000263734.3 + 6 1176 c.666C>T c.(664-666)ctC>ctT p.L222L NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 222 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) TGTCCTGCCTCATCATCATGT 0.547000 10 29 0 0 1 0 0 FCRL6 343413 broad.mit.edu 37 1 159784075 159784075 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:159784075G>A ENST00000321935.6 + 9 1247 c.1161G>A c.(1159-1161)agG>agA p.R387R FCRL6_ENST00000368106.3_Silent_p.R380R|FCRL6_ENST00000392235.3_Silent_p.R285R|FCRL6_ENST00000339348.5_Silent_p.R380R NM_001284217.1 NP_001271146.1 Q6DN72 FCRL6_HUMAN Fc receptor-like 6 380 integral to membrane p.R380R(1) NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 24 all_hematologic(112;0.0597) CCTCAAAGAGGAGTGAAGGTG 0.433000 9 25 0 0 1 0 0 TP53INP1 94241 broad.mit.edu 37 8 95942801 95942801 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr8:95942801C>T ENST00000342697.4 - 4 1036 c.629G>A c.(628-630)cGt>cAt p.R210H TP53INP1_ENST00000448464.2_3'UTR|TP53INP1_ENST00000378776.4_Intron|NDUFAF6_ENST00000396113.1_Intron NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 210 apoptosis PML body kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) ATTTTGGCGACGAAGGCTATT 0.478000 14 139 0 0 1 0 0 NIM1K 167359 broad.mit.edu 37 5 43280673 43280673 + Missense_Mutation SNP G G T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr5:43280673G>T ENST00000512796.1 + 4 2652 c.1153G>T c.(1153-1155)Ggg>Tgg p.G385W NIM1_ENST00000326035.2_Missense_Mutation_p.G385W Q8IY84 NIM1_HUMAN 385 ATP binding|magnesium ion binding|protein serine/threonine kinase activity CTCAATCACAGGGGTCTATAG 0.408000 17 64 4.7546e-09 5.17724e-09 1 1 0 TAOK1 57551 broad.mit.edu 37 17 27861292 27861292 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr17:27861292C>T ENST00000261716.3 + 19 3037 c.2518C>T c.(2518-2520)Ctc>Ttc p.L840F TAOK1_ENST00000536202.1_Missense_Mutation_p.L692F NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 840 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) GAGGGTCTCCCTCCGGAGGGC 0.413000 4 22 0 0 1 0 0 TPCN1 53373 broad.mit.edu 37 12 113730863 113730863 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr12:113730863G>C ENST00000550785.1 + 27 2623 c.2454G>C c.(2452-2454)caG>caC p.Q818H TPCN1_ENST00000541517.1_Missense_Mutation_p.Q818H|TPCN1_ENST00000546787.1_3'UTR|TPCN1_ENST00000335509.6_Missense_Mutation_p.Q746H|TPCN1_ENST00000392569.4_Missense_Mutation_p.Q678H NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 746 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 CCCTCTCCCAGATGGAGAGAT 0.592000 3 6 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7809003 7809003 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:7809003G>A ENST00000315599.7 - 6 1025 c.1003C>T c.(1003-1005)Ctg>Ttg p.L335L CD209_ENST00000593660.1_Silent_p.L265L|CD209_ENST00000593821.1_Silent_p.L199L|CD209_ENST00000601256.1_Intron|CD209_ENST00000394173.4_Silent_p.L174L|CD209_ENST00000301357.8_Silent_p.L199L|CD209_ENST00000315591.8_Silent_p.L311L|CD209_ENST00000394161.5_Silent_p.L99L|CD209_ENST00000354397.6_Silent_p.L329L|CD209_ENST00000601951.1_Silent_p.L311L|CD209_ENST00000204801.8_Silent_p.L291L|CD209_ENST00000602261.1_Silent_p.L243L NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 335 C-type lectin. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CTGGGCAACAGAGGTGAGCCG 0.537000 4 40 0 0 1 0 0 ZNF142 7701 broad.mit.edu 37 2 219515139 219515139 + Missense_Mutation SNP T T C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:219515139T>C ENST00000411696.2 - 4 1170 c.391A>G c.(391-393)Acc>Gcc p.T131A ZNF142_ENST00000449707.1_Missense_Mutation_p.T131A P52746 ZN142_HUMAN zinc finger protein 142 131 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TCCTTCTGGGTGTCACTCTTC 0.542000 5 152 0 0 1 0 0 SKIDA1 387640 broad.mit.edu 37 10 21804607 21804607 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr10:21804607C>G ENST00000449193.2 - 4 4397 c.2145G>C c.(2143-2145)aaG>aaC p.K715N SKIDA1_ENST00000444772.3_Missense_Mutation_p.K636N NM_207371.3 NP_997254.3 SKI/DACH domain containing 1 AAAACTCACCCTTTGTATCAT 0.388000 17 346 0 0 1 0 0 IL6R 3570 broad.mit.edu 37 1 154407569 154407569 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:154407569C>G ENST00000368485.3 + 5 1181 c.744C>G c.(742-744)ttC>ttG p.F248L IL6R_ENST00000507256.1_3'UTR|IL6R_ENST00000344086.4_Missense_Mutation_p.F248L NM_000565.3 NP_000556.1 P08887 IL6RA_HUMAN interleukin 6 receptor 248 Fibronectin type-III. acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity IL6R/ATP8B2(2) breast(2)|large_intestine(1)|ovary(3) 6 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) ACTCATCTTTCTACAGACTAC 0.527000 4 24 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89350676 89350676 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr16:89350676C>T ENST00000301030.4 - 9 2734 c.2274G>A c.(2272-2274)ctG>ctA p.L758L ANKRD11_ENST00000378330.2_Silent_p.L758L NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 758 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TGTACAGTCTCAGTTTTTCTT 0.388000 19 46 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11186835 11186835 + Nonsense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:11186835G>A ENST00000361445.4 - 46 6446 c.6370C>T c.(6370-6372)Caa>Taa p.Q2124* MTOR_ENST00000376838.1_Nonsense_Mutation_p.Q329* NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 2124 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 GAAACATATTGCAGCTCTAAG 0.428000 4 92 0 0 1 0 0 AZI2 64343 broad.mit.edu 37 3 28380033 28380033 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr3:28380033C>T ENST00000479665.1 - 3 821 c.290G>A c.(289-291)cGa>cAa p.R97Q AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000334100.6_Missense_Mutation_p.R97Q|AZI2_ENST00000457172.1_Missense_Mutation_p.R97Q|AZI2_ENST00000420543.2_Missense_Mutation_p.R97Q NM_022461.3 NP_071906.1 Q9H6S1 AZI2_HUMAN 5-azacytidine induced 2 97 mitochondrion|plasma membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 GCAAACCTCTCGATATGCATG 0.363000 7 44 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111643853 111643853 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr6:111643853C>T ENST00000435970.1 - 28 8852 c.8036G>A c.(8035-8037)aGa>aAa p.R2679K REV3L_ENST00000368805.1_Missense_Mutation_p.R2757K|REV3L_ENST00000358835.3_Missense_Mutation_p.R2757K|REV3L_ENST00000368802.3_Missense_Mutation_p.R2757K O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 2757 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) CAAGGTCTCTCTGGCTTTGTG 0.378000 DNA polymerases (catalytic subunits) 13 72 0 0 1 0 0 CD109 135228 broad.mit.edu 37 6 74472149 74472149 + Silent SNP A A T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr6:74472149A>T ENST00000437994.2 + 8 1232 c.801A>T c.(799-801)acA>acT p.T267T CD109_ENST00000422508.2_Silent_p.T190T|CD109_ENST00000287097.5_Silent_p.T267T NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 267 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TAACGCTTACATTTTTACCTT 0.303000 10 28 0 0 1 0 0 ZNF426 79088 broad.mit.edu 37 19 9639899 9639899 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:9639899G>A ENST00000593003.1 - 6 1185 c.708C>T c.(706-708)ctC>ctT p.L236L ZNF426_ENST00000535489.1_Silent_p.L274L|ZNF426_ENST00000253115.2_Silent_p.L274L Q9BUY5 ZN426_HUMAN zinc finger protein 426 274 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 TTTTTGCATTGAGGGTTTCTA 0.423000 15 132 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 97915757 97915757 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:97915757G>A ENST00000370192.3 - 14 1863 c.1763C>T c.(1762-1764)cCc>cTc p.P588L NM_000110.3 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 588 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GATGATTCTGGGGGAAACATT 0.418000 4 53 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41545700 41545700 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr8:41545700G>A ENST00000396942.1 - 35 4315 c.4232C>T c.(4231-4233)tCa>tTa p.S1411L ANK1_ENST00000265709.8_Missense_Mutation_p.S1452L|ANK1_ENST00000379758.2_Missense_Mutation_p.S1411L|ANK1_ENST00000396945.1_Missense_Mutation_p.S1411L|ANK1_ENST00000347528.4_Missense_Mutation_p.S1411L|ANK1_ENST00000289734.7_Missense_Mutation_p.S1411L|ANK1_ENST00000352337.4_Missense_Mutation_p.S1411L P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1411 55 kDa regulatory domain.|Death. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GAGGTGCTCTGAGATAACAGC 0.517000 51 59 0 0 1 0 0 DAXX 1616 broad.mit.edu 37 6 33289070 33289070 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr6:33289070G>C ENST00000374542.5 - 3 686 c.482C>G c.(481-483)cCc>cGc p.P161R DAXX_ENST00000477162.1_Intron|DAXX_ENST00000414083.2_Missense_Mutation_p.P86R|DAXX_ENST00000266000.6_Missense_Mutation_p.P161R NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 161 activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 GAGGTGTGTGGGAGGGTTATT 0.577000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 16 41 0 0 1 0 0 CCDC151 115948 broad.mit.edu 37 19 11545692 11545692 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:11545692G>A ENST00000356392.4 - 1 233 c.146C>T c.(145-147)aCc>aTc p.T49I CCDC151_ENST00000591179.1_Missense_Mutation_p.T49I|CCDC151_ENST00000586836.1_Intron|CCDC151_ENST00000545100.1_Intron NM_145045.4 NP_659482.3 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 49 endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 12 ACGGCCTGGGGTCCACGCCTG 0.607000 OREG0025257 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 59 0 0 1 0 0 POLA2 23649 broad.mit.edu 37 11 65034096 65034096 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr11:65034096G>A ENST00000265465.3 + 2 654 c.123G>A c.(121-123)atG>atA p.M41I POLA2_ENST00000541089.1_Intron NM_002689.2 NP_002680.2 Q14181 DPOA2_HUMAN polymerase (DNA directed), alpha 2, accessory subunit 41 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) AGGAGGGAATGGTAGGCGAGC 0.418000 6 38 0 0 1 0 0 RNASEH1 246243 broad.mit.edu 37 2 3604433 3604433 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:3604433C>G ENST00000315212.3 - 2 545 c.190G>C c.(190-192)Gag>Cag p.E64Q NM_002936.3 NP_002927.2 O60930 RNH1_HUMAN ribonuclease H1 64 RNA catabolic process cytoplasm magnesium ion binding|ribonuclease H activity|RNA binding endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1) 13 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22) GCCTCATCCTCTGTGGCAAAC 0.468000 11 37 0 0 1 0 0 RBM5 10181 broad.mit.edu 37 3 50145735 50145735 + Nonsense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr3:50145735C>G ENST00000347869.3 + 14 1365 c.1190C>G c.(1189-1191)tCa>tGa p.S397* RBM5_ENST00000441812.2_3'UTR NM_005778.3 NP_005769.1 P52756 RBM5_HUMAN RNA binding motif protein 5 397 Required for interaction with U2AF2. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2) 19 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TCATCTGCATCAGGTAGTAAA 0.368000 12 75 0 0 1 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39086802 39086802 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr9:39086802C>T ENST00000297668.6 - 20 3338 c.3265G>A c.(3265-3267)Gat>Aat p.D1089N CNTNAP3_ENST00000358144.2_Missense_Mutation_p.D1001N|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.D1008N NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 1089 Laminin G-like 4. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GTAAATGCATCAGGATTTTGA 0.338000 9 38 0 0 1 0 0 XKR3 150165 broad.mit.edu 37 22 17288835 17288835 + Silent SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr22:17288835G>C ENST00000331428.5 - 2 231 c.129C>G c.(127-129)ctC>ctG p.L43L NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 43 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CACCACAGTAGAGAACAGTTG 0.378000 7 41 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30318173 30318173 + Nonsense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr10:30318173G>A ENST00000375377.1 - 3 1005 c.904C>T c.(904-906)Cag>Tag p.Q302* NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 302 Pro-rich. breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 CTAGACTGCTGGTGCGAGCTG 0.592000 4 116 0 0 1 0 0 TBX5 6910 broad.mit.edu 37 12 114793396 114793396 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr12:114793396G>A ENST00000310346.4 - 9 2164 c.1498C>T c.(1498-1500)Cat>Tat p.H500Y TBX5_ENST00000405440.2_Missense_Mutation_p.H500Y|TBX5_ENST00000349716.5_Missense_Mutation_p.H450Y NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 500 PRTLSPHQYHSVHGVGMVPEWSDNS -> QGLYPLISTTLC TELAWCRVERQ (in Ref. 1; CAA70592). cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) TGGTACTGATGAGGGGATAGA 0.567000 3 24 0 0 1 0 0 OXGR1 27199 broad.mit.edu 37 13 97639260 97639260 + Missense_Mutation SNP C C T rs144457939 TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr13:97639260C>T ENST00000298440.1 - 4 997 c.754G>A c.(754-756)Gta>Ata p.V252I OXGR1_ENST00000543457.1_Missense_Mutation_p.V252I NM_080818.3 NP_543008.3 Q96P68 OXGR1_HUMAN oxoglutarate (alpha-ketoglutarate) receptor 1 252 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.V252L(2)|p.V252I(1) NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 all_neural(89;0.0982)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.186) AAAAAACATACGTAAAATGCA 0.438000 29 57 0 0 1 0 0 TMEM179 388021 broad.mit.edu 37 14 105061493 105061493 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr14:105061493G>A ENST00000341595.3 - 3 1436 c.531C>T c.(529-531)ggC>ggT p.G177G TMEM179_ENST00000556573.1_Intron NM_207379.1 NP_997262.1 Q6ZVK1 T179A_HUMAN transmembrane protein 179 0 integral to membrane endometrium(1)|lung(2)|skin(1) 4 all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.129) CTTGCCCAGAGCCCCCTACCT 0.582000 17 15 0 0 1 0 0 SLITRK6 84189 broad.mit.edu 37 13 86369795 86369795 + Silent SNP T T C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr13:86369795T>C ENST00000400286.2 - 2 1447 c.849A>G c.(847-849)ttA>ttG p.L283L NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 283 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) CTGCCAGATGTAATGATCCTG 0.393000 4 115 0 0 1 0 0 ITPK1 3705 broad.mit.edu 37 14 93412805 93412805 + Missense_Mutation SNP T T G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr14:93412805T>G ENST00000267615.6 - 10 945 c.772A>C c.(772-774)Agc>Cgc p.S258R ITPK1_ENST00000555495.1_Missense_Mutation_p.S139R|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000556603.2_Missense_Mutation_p.S258R|ITPK1_ENST00000354313.3_Missense_Mutation_p.S258R Q13572 ITPK1_HUMAN inositol-tetrakisphosphate 1-kinase 258 ATP-grasp. 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) ACCTCGTCGCTCGGCCGCTCG 0.622000 4 29 0 0 1 0 0 CLMN 79789 broad.mit.edu 37 14 95688112 95688112 + Splice_Site SNP C C A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr14:95688112C>A ENST00000298912.4 - 4 354 c.e4-1 NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) ATTCGTGCAGCTATAAAACAG 0.418000 4 38 5.9392e-07 6.32654e-07 1 1 0 DEPDC5 9681 broad.mit.edu 37 22 32194592 32194592 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr22:32194592C>G ENST00000400246.1 + 14 1038 c.896C>G c.(895-897)tCt>tGt p.S299C DEPDC5_ENST00000536766.1_Missense_Mutation_p.S271C|DEPDC5_ENST00000382112.3_Missense_Mutation_p.S299C|DEPDC5_ENST00000400248.2_Missense_Mutation_p.S299C|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S299C|DEPDC5_ENST00000382105.2_Missense_Mutation_p.S299C|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S299C|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S299C|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S299C|DEPDC5_ENST00000400242.3_Missense_Mutation_p.S299C O75140 DEPD5_HUMAN DEP domain containing 5 299 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 GGAGATAATTCTACCTCAGCA 0.413000 79 71 0 0 1 0 0 FMNL1 752 broad.mit.edu 37 17 43309808 43309808 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr17:43309808C>T ENST00000331495.3 + 3 624 c.288C>T c.(286-288)gtC>gtT p.V96V FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Silent_p.V96V NM_005892.3 NP_005883 O95466 FMNL_HUMAN formin-like 1 96 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 CTGGTGGGGTCAGCCGAAAGG 0.547000 10 27 0 0 1 0 0 ARRDC5 645432 broad.mit.edu 37 19 4891334 4891334 + Silent SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:4891334C>G ENST00000381781.2 - 3 752 c.753G>C c.(751-753)ctG>ctC p.L251L NM_001080523.1 NP_001073992.1 A6NEK1 ARRD5_HUMAN arrestin domain containing 5 251 signal transduction endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257) CCTCCTGCCTCAGAAGCTCGC 0.622000 6 25 0 0 1 0 0 TPCN1 53373 broad.mit.edu 37 12 113730780 113730780 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr12:113730780G>A ENST00000550785.1 + 27 2540 c.2371G>A c.(2371-2373)Gag>Aag p.E791K TPCN1_ENST00000541517.1_Missense_Mutation_p.E791K|TPCN1_ENST00000335509.6_Missense_Mutation_p.E719K|TPCN1_ENST00000392569.4_Missense_Mutation_p.E651K NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 719 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 CTCCAAAGAAGAGCTGGTTGC 0.622000 7 38 0 0 1 0 0 NFATC1 4772 broad.mit.edu 37 18 77171360 77171360 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr18:77171360C>T ENST00000253506.5 + 2 1454 c.1085C>T c.(1084-1086)cCc>cTc p.P362L NFATC1_ENST00000318065.5_Missense_Mutation_p.P349L|NFATC1_ENST00000587635.1_Missense_Mutation_p.P362L|NFATC1_ENST00000542384.1_Missense_Mutation_p.P362L|NFATC1_ENST00000591814.1_Missense_Mutation_p.P362L|NFATC1_ENST00000329101.4_Missense_Mutation_p.P349L|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000427363.2_Missense_Mutation_p.P362L|NFATC1_ENST00000586434.1_Missense_Mutation_p.P349L|NFATC1_ENST00000592223.1_Missense_Mutation_p.P349L|NFATC1_ENST00000397790.2_Intron NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 362 intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) AGCCCCCCGCCCCCGGCCGAC 0.692000 6 12 0 0 1 0 0 MTHFD1 4522 broad.mit.edu 37 14 64877852 64877852 + Silent SNP G G T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr14:64877852G>T ENST00000545908.1 + 3 568 c.339G>T c.(337-339)ctG>ctT p.L113L MTHFD1_ENST00000216605.8_Silent_p.L57L P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase 57 Methylenetetrahydrofolate dehydrogenase and cyclohydrolase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) ATGTGAAGCTGAAGGCTGCTG 0.463000 8 41 0.00448238 0.00451308 1 1 0 HIF3A 64344 broad.mit.edu 37 19 46807222 46807222 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:46807222G>A ENST00000377670.4 + 2 125 c.94G>A c.(94-96)Gag>Aag p.E32K HIF3A_ENST00000244303.6_Silent_p.P11P|HIF3A_ENST00000600383.1_Silent_p.P11P|HIF3A_ENST00000420102.2_Silent_p.P29P|HIF3A_ENST00000472815.1_Silent_p.P11P|HIF3A_ENST00000300862.3_Missense_Mutation_p.E30K|HIF3A_ENST00000339613.2_5'UTR NM_152795.3 NP_690008.2 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 32 Helix-loop-helix motif. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) CCAGGAGACCGAGGTGCTGTA 0.672000 5 16 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66217176 66217176 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr4:66217176C>T ENST00000273854.3 - 14 3039 c.2439G>A c.(2437-2439)gtG>gtA p.V813V EPHA5_ENST00000511294.1_Silent_p.V814V|EPHA5_ENST00000354839.4_Silent_p.V791V|EPHA5_ENST00000432638.2_Silent_p.V650V NM_001281765.1|NM_004439.5 NP_001268694.1|NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 813 Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 ACACTTTGCACACAAGGTTAC 0.458000 TSP Lung(17;0.13) 11 43 0 0 1 0 0 COBLL1 22837 broad.mit.edu 37 2 165584631 165584631 + Missense_Mutation SNP T T G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:165584631T>G ENST00000375458.2 - 4 730 c.509A>C c.(508-510)cAa>cCa p.Q170P COBLL1_ENST00000342193.4_Missense_Mutation_p.Q170P|COBLL1_ENST00000409184.3_Missense_Mutation_p.Q208P|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000392717.2_Missense_Mutation_p.Q208P|COBLL1_ENST00000194871.6_Missense_Mutation_p.Q223P NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 208 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 GGCAAGCTCTTGAAGCGATGC 0.378000 18 51 0 0 1 0 0 FAM118B 79607 broad.mit.edu 37 11 126120475 126120475 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr11:126120475G>A ENST00000533050.1 + 5 907 c.414G>A c.(412-414)atG>atA p.M138I FAM118B_ENST00000360194.4_Missense_Mutation_p.M138I|FAM118B_ENST00000529731.1_Intron|FAM118B_ENST00000525728.1_3'UTR NM_024556.3 NP_078832.1 Q9BPY3 F118B_HUMAN family with sequence similarity 118, member B 138 breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1) 13 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784) AGTCAAAGATGGAAGATTCTG 0.373000 4 53 0 0 1 0 0 LNX2 222484 broad.mit.edu 37 13 28124599 28124599 + Nonsense_Mutation SNP A A T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr13:28124599A>T ENST00000316334.3 - 9 1937 c.1808T>A c.(1807-1809)tTa>tAa p.L603* NM_153371.3 NP_699202.1 Q8N448 LNX2_HUMAN ligand of numb-protein X 2 603 PDZ 4. zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 31 Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248) ACTTCTTCGTAAAACTATATC 0.348000 14 41 0 0 1 0 0 TTC1 7265 broad.mit.edu 37 5 159437854 159437854 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr5:159437854G>A ENST00000231238.5 + 2 429 c.319G>A c.(319-321)Gaa>Aaa p.E107K TTC1_ENST00000522793.1_Missense_Mutation_p.E107K NM_001282500.1|NM_003314.1 NP_001269429.1|NP_003305.1 Q99614 TTC1_HUMAN tetratricopeptide repeat domain 1 107 protein folding unfolded protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1) 12 Renal(175;0.00196) all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402) CATGTCGGATGAAGAGAAACA 0.378000 3 16 0 0 1 0 0 ACTB 60 broad.mit.edu 37 7 5568978 5568978 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr7:5568978C>G ENST00000331789.5 - 3 368 c.177G>C c.(175-177)caG>caC p.Q59H NM_001101.3 NP_001092.1 P60709 ACTB_HUMAN actin, beta 59 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) CTCTCTTGCTCTGGGCCTCGT 0.592000 12 44 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196762438 196762438 + Missense_Mutation SNP C C A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:196762438C>A ENST00000312428.6 - 29 4700 c.4600G>T c.(4600-4602)Gat>Tat p.D1534Y NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1534 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AGATTTACATCAATGATAGAT 0.289000 14 41 2.23348e-06 2.35076e-06 1 1 0 PCDHAC2 56134 broad.mit.edu 37 5 140348112 140348112 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr5:140348112G>A ENST00000289269.5 + 1 2293 c.1761G>A c.(1759-1761)tcG>tcA p.S587S PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 587 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAACCAACTCGTCAGCAGCCT 0.542000 8 16 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73041822 73041822 + RNA SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chrX:73041822G>A ENST00000604411.1 + 0 29783 XIST_ENST00000429829.1_lincRNA NR_003255.2 TGCGTTATCTGAGGATTGTTT 0.343000 6 7 0 0 1 0 0 RADIL 55698 broad.mit.edu 37 7 4839058 4839058 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr7:4839058G>A ENST00000399583.3 - 15 3366 c.3179C>T c.(3178-3180)tCc>tTc p.S1060F RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Missense_Mutation_p.S820F NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 1060 PDZ. cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) TTCCACGTCGGACTTCGCGAC 0.647000 4 66 0 0 1 0 0 EDN3 1908 broad.mit.edu 37 20 57876610 57876610 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr20:57876610G>A ENST00000311585.7 + 2 568 c.198G>A c.(196-198)gtG>gtA p.V66V EDN3_ENST00000371025.3_Silent_p.V66V|EDN3_ENST00000337938.2_Silent_p.V66V|EDN3_ENST00000395654.3_Silent_p.V66V|EDN3_ENST00000371028.2_Silent_p.V66V NM_207032.1 NP_996915.1 P14138 EDN3_HUMAN endothelin 3 66 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 19 all_lung(29;0.0115) AGGGGACTGTGGCCCCGACAG 0.701000 13 26 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141459333 141459333 + Silent SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:141459333G>C ENST00000389484.3 - 40 7355 c.6384C>G c.(6382-6384)gtC>gtG p.V2128V NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2128 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCTTCAGGTTGACTCCAAGGC 0.403000 TSP Lung(27;0.18) 8 65 0 0 1 0 0 NDUFB9 4715 broad.mit.edu 37 8 125555400 125555400 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr8:125555400G>A ENST00000522532.1 + 2 221 c.174G>A c.(172-174)gcG>gcA p.A58A NDUFB9_ENST00000517367.1_Silent_p.A47A|NDUFB9_ENST00000276689.3_Silent_p.A58A|NDUFB9_ENST00000518008.1_Silent_p.A58A Q9Y6M9 NDUB9_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa 58 mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 8 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) NADH(DB00157) AGGATATGGCGAAGGCCACCC 0.468000 10 74 0 0 1 0 0 UNC13A 23025 broad.mit.edu 37 19 17746919 17746919 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:17746919C>G ENST00000428389.2 - 27 3392 c.3393G>C c.(3391-3393)aaG>aaC p.K1131N UNC13A_ENST00000551649.1_Missense_Mutation_p.K1043N|UNC13A_ENST00000550896.1_Missense_Mutation_p.K1041N|UNC13A_ENST00000519716.2_Missense_Mutation_p.K1043N|UNC13A_ENST00000552293.1_Missense_Mutation_p.K1043N|UNC13A_ENST00000252773.7_Missense_Mutation_p.K1043N Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 1043 MHD1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 AGTCGAGGTTCTTGATGCTGG 0.527000 5 9 0 0 1 0 0 SPRY2 10253 broad.mit.edu 37 13 80911692 80911692 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr13:80911692C>T ENST00000377102.1 - 2 1126 c.149G>A c.(148-150)cGa>cAa p.R50Q SPRY2_ENST00000540649.1_Missense_Mutation_p.R50Q|SPRY2_ENST00000377104.3_Missense_Mutation_p.R50Q O43597 SPY2_HUMAN sprouty homolog 2 (Drosophila) 50 epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade cytosol|microtubule|ruffle membrane protein serine/threonine kinase activator activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 12 Medulloblastoma(90;0.18) Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244) GBM - Glioblastoma multiforme(99;0.0318) ATTGGTGTTTCGGATGGCTCT 0.612000 13 48 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94486156 94486156 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr9:94486156C>T ENST00000375708.3 - 9 2818 c.2620G>A c.(2620-2622)Gtc>Atc p.V874I ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 874 Ser/Thr-rich. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GCCGTGGTGACGTAGCCTGTG 0.642000 16 65 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40902031 40902031 + Missense_Mutation SNP G G T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:40902031G>T ENST00000324001.7 - 7 2498 c.2228C>A c.(2227-2229)cCc>cAc p.P743H PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 743 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CTGCACCTCGGGGAGGTGCAC 0.567000 22 170 4.35082e-09 4.74928e-09 1 1 0 RANBP2 5903 broad.mit.edu 37 2 109347808 109347808 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:109347808G>A ENST00000283195.6 + 4 409 c.283G>A c.(283-285)Gat>Aat p.D95N NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 95 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 AACACAAAAAGATCTTGTGTT 0.318000 11 78 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32635142 32635142 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr9:32635142C>T ENST00000242310.4 - 1 525 c.436G>A c.(436-438)Gat>Aat p.D146N RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 146 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TCTTCACAATCAGCATCATAG 0.488000 19 88 0 0 1 0 0 PDLIM3 27295 broad.mit.edu 37 4 186423602 186423602 + Missense_Mutation SNP T T G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr4:186423602T>G ENST00000284770.5 - 8 1014 c.941A>C c.(940-942)cAc>cCc p.H314P PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Missense_Mutation_p.H266P NM_014476.5 NP_055291.2 Q53GG5 PDLI3_HUMAN PDZ and LIM domain 3 314 LIM zinc-binding. sarcomere zinc ion binding breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171) GCACTCAGGGTGCCGGTACTT 0.517000 6 93 0 0 1 0 0 ZNF572 137209 broad.mit.edu 37 8 125989664 125989664 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr8:125989664G>C ENST00000319286.5 + 3 1308 c.1154G>C c.(1153-1155)aGa>aCa p.R385T NM_152412.2 NP_689625.2 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 385 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 31 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) AAACCATATAGATGTTGTGAA 0.408000 HNSCC(60;0.17) 23 44 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135272735 135272735 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr7:135272735C>T ENST00000285968.6 + 10 1494 c.1468C>T c.(1468-1470)Cgc>Tgc p.R490C NUP205_ENST00000440390.2_Intron NM_015135.2 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 490 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GCCCCCTCAACGCCAGGTGAG 0.448000 6 35 0 0 1 0 0 TMPRSS4 56649 broad.mit.edu 37 11 117969812 117969812 + Splice_Site SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr11:117969812C>T ENST00000534111.1 + 3 415 c.150C>T c.(148-150)ctC>ctT p.L50L TMPRSS4_ENST00000437212.3_Splice_Site_p.L52L|TMPRSS4_ENST00000523251.1_Intron|TMPRSS4_ENST00000522824.1_Splice_Site_p.L52L|TMPRSS4_ENST00000522307.1_Intron NM_001083947.1|NM_001173551.1|NM_019894.3 NP_001077416.1|NP_001167022|NP_063947.1 Q9NRS4 TMPS4_HUMAN transmembrane protease, serine 4 52 proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238) BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204) TGGTTGTCCTCAGTAAGTGAC 0.557000 11 34 0 0 1 0 0 ACSM3 6296 broad.mit.edu 37 16 20808288 20808288 + Silent SNP A A T rs139314236 TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr16:20808288A>T ENST00000289416.5 + 14 2230 c.1755A>T c.(1753-1755)acA>acT p.T585T ACSM3_ENST00000450120.2_Silent_p.T577T|ERI2_ENST00000569729.1_3'UTR|ERI2_ENST00000357967.4_3'UTR|ERI2_ENST00000564349.1_3'UTR|ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000567387.1_3'UTR NM_005622.3 NP_005613.2 Q53FZ2 ACSM3_HUMAN acyl-CoA synthetase medium-chain family member 3 585 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 21 AATGGAAGACAATTTAAAGTT 0.353000 13 32 0 0 1 0 0 IZUMO1 284359 broad.mit.edu 37 19 49244278 49244278 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:49244278G>A ENST00000332955.2 - 10 1487 c.940C>T c.(940-942)Cgt>Tgt p.R314C NM_182575.2 NP_872381.2 Q8IYV9 IZUM1_HUMAN izumo sperm-egg fusion 1 314 fusion of sperm to egg plasma membrane integral to membrane endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) TTCCTTCGACGAAATATCCTA 0.532000 19 53 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50133356 50133356 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr20:50133356G>A ENST00000371564.3 - 3 1518 c.1299C>T c.(1297-1299)gtC>gtT p.V433V NFATC2_ENST00000609943.1_Silent_p.V413V|NFATC2_ENST00000414705.1_Silent_p.V413V|NFATC2_ENST00000396009.3_Silent_p.V433V|NFATC2_ENST00000609507.1_Silent_p.V214V|NFATC2_ENST00000610033.1_Silent_p.V214V NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 433 RHD. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) TTGGAGCTTTGACAGCCCCTC 0.557000 15 45 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98846517 98846517 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:98846517C>G ENST00000477737.1 + 16 2359 c.2155C>G c.(2155-2157)Caa>Gaa p.Q719E NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 719 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 AAACAGGCATCAAAAGGAAAT 0.353000 14 50 0 0 1 0 0 PODXL2 50512 broad.mit.edu 37 3 127358114 127358114 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr3:127358114G>A ENST00000342480.6 + 2 136 c.97G>A c.(97-99)Ggg>Agg p.G33R NM_015720.2 NP_056535.1 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 33 leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 26 CTGTGTGGCTGGGTCTGATGA 0.597000 3 48 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 69666612 69666612 + Missense_Mutation SNP T T C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr6:69666612T>C ENST00000370598.1 + 8 2257 c.1436T>C c.(1435-1437)aTa>aCa p.I479T NM_001704.2 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 479 TSP type-1 4. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GAAAGGCGAATAAGGACCTGT 0.498000 5 51 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10100025 10100025 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:10100025C>T ENST00000264828.3 - 26 2149 c.2064G>A c.(2062-2064)gaG>gaA p.E688E NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 688 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CCGTGGGGCCCTCATGTCCTG 0.587000 9 36 0 0 1 0 0 BARD1 580 broad.mit.edu 37 2 215674209 215674209 + Missense_Mutation SNP C C A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:215674209C>A ENST00000260947.4 - 1 219 c.85G>T c.(85-87)Gat>Tat p.D29Y BARD1_ENST00000449967.2_5'UTR|BARD1_ENST00000471787.1_5'UTR NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1 NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 29 Interaction with BRCA1. cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1) 35 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CCGCGACCATCCGGTTCCATG 0.692000 Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 4 21 0.00024832 0.000254672 1 1 0 CYP4F22 126410 broad.mit.edu 37 19 15659956 15659956 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:15659956C>G ENST00000269703.3 + 12 1477 c.1278C>G c.(1276-1278)atC>atG p.I426M CYP4F22_ENST00000601005.2_Missense_Mutation_p.I426M NM_173483.3 NP_775754.2 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 22 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 CAGGAATCATCTGCTTGGTCA 0.597000 20 21 0 0 1 0 0 FZD6 8323 broad.mit.edu 37 8 104330971 104330971 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr8:104330971G>A ENST00000358755.4 + 3 648 c.331G>A c.(331-333)Gac>Aac p.D111N FZD6_ENST00000523739.1_Missense_Mutation_p.D79N|FZD6_ENST00000522566.1_Missense_Mutation_p.D111N|FZD6_ENST00000540287.1_Intron NM_001164616.1|NM_003506.3 NP_001158088.1|NP_003497.2 O60353 FZD6_HUMAN frizzled family receptor 6 111 FZ. angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) AAAATTAATTGACACTTTTGG 0.378000 9 57 0 0 1 0 0 PPFIA4 8497 broad.mit.edu 37 1 203036873 203036873 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:203036873G>A ENST00000367240.2 + 25 3565 c.3038G>A c.(3037-3039)cGg>cAg p.R1013Q PPFIA4_ENST00000599966.1_Missense_Mutation_p.R519Q|PPFIA4_ENST00000447715.2_Missense_Mutation_p.R1012Q|PPFIA4_ENST00000414050.2_Missense_Mutation_p.R741Q|PPFIA4_ENST00000295706.4_Missense_Mutation_p.R519Q|PPFIA4_ENST00000272198.6_Missense_Mutation_p.R528Q O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 528 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 AATTATGACCGGAAGGAGCTG 0.582000 3 41 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62903534 62903534 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr4:62903534C>G ENST00000512091.2 + 23 4220 c.3473C>G c.(3472-3474)tCt>tGt p.S1158C LPHN3_ENST00000545650.1_Missense_Mutation_p.S1158C|LPHN3_ENST00000507625.1_Missense_Mutation_p.S1217C|LPHN3_ENST00000514591.1_Missense_Mutation_p.S1158C|LPHN3_ENST00000508946.1_Missense_Mutation_p.S1158C|LPHN3_ENST00000514157.1_Missense_Mutation_p.S1149C|LPHN3_ENST00000506700.1_Missense_Mutation_p.S1149C|LPHN3_ENST00000504896.1_Missense_Mutation_p.S1158C|LPHN3_ENST00000511324.1_Missense_Mutation_p.S1217C|LPHN3_ENST00000508693.1_Missense_Mutation_p.S1226C|LPHN3_ENST00000506720.1_Missense_Mutation_p.S1226C|LPHN3_ENST00000507164.1_Missense_Mutation_p.S1217C|LPHN3_ENST00000509896.1_Missense_Mutation_p.S1226C|LPHN3_ENST00000514996.1_Missense_Mutation_p.S1149C|LPHN3_ENST00000506746.1_Missense_Mutation_p.S1217C Q9HAR2 LPHN3_HUMAN latrophilin 3 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 GGGAAAACATCTGGTTCTCGA 0.413000 18 21 0 0 1 0 0 AMER2 219287 broad.mit.edu 37 13 25744249 25744249 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr13:25744249C>T ENST00000357816.2 - 3 1627 c.1152G>A c.(1150-1152)aaG>aaA p.K384K AMER2_ENST00000381853.3_Silent_p.K384K|AMER2_ENST00000515384.1_Silent_p.K503K APC membrane recruitment protein 2 TGGGCTCCTCCTTAGGATGGG 0.647000 20 70 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196964925 196964925 + Missense_Mutation SNP A A G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:196964925A>G ENST00000367414.5 + 5 814 c.758A>G c.(757-759)cAc>cGc p.H253R CFHR5_ENST00000256785.4_Missense_Mutation_p.H229R NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 229 Sushi 4. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 GAATATGGACACAATGAAGTA 0.363000 10 43 0 0 1 0 0 ZNF574 64763 broad.mit.edu 37 19 42582868 42582868 + Missense_Mutation SNP C C A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:42582868C>A ENST00000600245.1 + 2 765 c.110C>A c.(109-111)tCc>tAc p.S37Y CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Missense_Mutation_p.S37Y|ZNF574_ENST00000222339.7_Missense_Mutation_p.S127Y Q6ZN55 ZN574_HUMAN zinc finger protein 574 37 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Prostate(69;0.059) CACCAAAACTCCCACGTGCCC 0.562000 21 62 1.87028e-06 1.97792e-06 1 1 0 PCDH15 65217 broad.mit.edu 37 10 55582378 55582378 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr10:55582378G>A ENST00000361849.3 - 34 5508 c.5114C>T c.(5113-5115)tCa>tTa p.S1705L PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.S1703L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1663L|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1700L|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1680L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1634L|PCDH15_ENST00000395445.1_Intron NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1703 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACAAGGCCTTGAAGGAGAAAG 0.383000 HNSCC(58;0.16) 18 36 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74004010 74004010 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr17:74004010G>C ENST00000301607.3 - 22 5529 c.5276C>G c.(5275-5277)tCt>tGt p.S1759C EVPL_ENST00000586740.1_Missense_Mutation_p.S1781C NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1759 Globular 2. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CTCCTCCTTAGAGATGCGCCG 0.632000 3 36 0 0 1 0 0 FUT2 2524 broad.mit.edu 37 19 49206737 49206737 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:49206737G>A ENST00000425340.2 + 2 641 c.524G>A c.(523-525)cGg>cAg p.R175Q FUT2_ENST00000391876.4_Missense_Mutation_p.R175Q NM_000511.5|NM_001097638.2 NP_000502.4|NP_001091107.1 Q10981 FUT2_HUMAN fucosyltransferase 2 (secretor status included) 175 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane galactoside 2-alpha-L-fucosyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2) 7 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) GACCACGTGCGGGAGGAGGCC 0.657000 9 38 0 0 1 0 0 NEUROD1 4760 broad.mit.edu 37 2 182543346 182543346 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:182543346G>A ENST00000295108.3 - 2 699 c.242C>T c.(241-243)cCc>cTc p.P81L CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 81 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) GCGTCTCTTGGGCTTTTGATC 0.557000 5 35 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197073129 197073129 + Missense_Mutation SNP T T C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:197073129T>C ENST00000367409.4 - 18 5508 c.5252A>G c.(5251-5253)cAa>cGa p.Q1751R ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1751 IQ 6.|IQ 7. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 AGCTTTTCTTTGTAACCTCAT 0.368000 38 93 0 0 1 0 0 DOCK9 23348 broad.mit.edu 37 13 99481911 99481911 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr13:99481911C>T ENST00000376460.1 - 42 4746 c.4666G>A c.(4666-4668)Gac>Aac p.D1556N DOCK9_ENST00000448493.2_3'UTR|DOCK9_ENST00000339416.2_Missense_Mutation_p.D1557N NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1557 DHR-2. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) ATAAGCCGGTCACTGTTGGCA 0.527000 3 7 0 0 1 0 0 GZMB 3002 broad.mit.edu 37 14 25100311 25100311 + Missense_Mutation SNP A A T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr14:25100311A>T ENST00000216341.4 - 5 816 c.710T>A c.(709-711)gTa>gAa p.V237E GZMB_ENST00000382540.1_Missense_Mutation_p.V192E|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382542.1_Missense_Mutation_p.V271E|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000415355.3_Missense_Mutation_p.V225E P10144 GRAB_HUMAN granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) 237 Peptidase S1. activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals cytosol|immunological synapse|nucleus protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2) 13 GBM - Glioblastoma multiforme(265;0.028) TATCCAGTGTACAAAGCTTGA 0.493000 21 74 0 0 1 0 0 C1QTNF3-AMACR 100534612 broad.mit.edu 37 5 34024093 34024093 + Missense_Mutation SNP T T C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr5:34024093T>C ENST00000382079.3 - 5 528 c.454A>G c.(454-456)Agc>Ggc p.S152G C1QTNF3_ENST00000513065.1_5'UTR|C1QTNF3_ENST00000231338.7_Missense_Mutation_p.S168G|C1QTNF3_ENST00000382065.3_Missense_Mutation_p.S241G 168 TTCATCATGCTGAAGGTGAAG 0.408000 17 41 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108381641 108381641 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr11:108381641C>G ENST00000265843.4 - 6 4703 c.4593G>C c.(4591-4593)gaG>gaC p.E1531D EXPH5_ENST00000443411.1_Missense_Mutation_p.E1343D|EXPH5_ENST00000525344.1_Missense_Mutation_p.E1524D|EXPH5_ENST00000428840.1_Missense_Mutation_p.E1455D NM_015065.2 NP_055880 Q149M6 Q149M6_HUMAN exophilin 5 1531 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) ACTGCAGACTCTCTAAGTTTG 0.448000 5 30 0 0 1 0 0 ITGA7 3679 broad.mit.edu 37 12 56091767 56091767 + Missense_Mutation SNP G G T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr12:56091767G>T ENST00000257880.7 - 9 1587 c.1368C>A c.(1366-1368)ttC>ttA p.F456L ITGA7_ENST00000452168.2_Missense_Mutation_p.F319L|ITGA7_ENST00000553804.1_Missense_Mutation_p.F416L|ITGA7_ENST00000394230.2_Missense_Mutation_p.F416L|ITGA7_ENST00000347027.6_Missense_Mutation_p.F412L|ITGA7_ENST00000394229.2_Missense_Mutation_p.F412L|ITGA7_ENST00000555728.1_Missense_Mutation_p.F456L|ITGA7_ENST00000257879.6_Missense_Mutation_p.F412L Q13683 ITA7_HUMAN integrin, alpha 7 456 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CATGGTAGATGAAGACTTTCC 0.582000 17 136 3.41278e-10 3.74387e-10 1 1 0 TMIGD2 126259 broad.mit.edu 37 19 4298317 4298317 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:4298317G>C ENST00000301272.2 - 2 117 c.72C>G c.(70-72)agC>agG p.S24R TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000595645.1_Missense_Mutation_p.S24R|TMIGD2_ENST00000600114.1_Intron NM_001169126.1|NM_144615.2 NP_001162597.1|NP_653216.2 Q96BF3 TMIG2_HUMAN transmembrane and immunoglobulin domain containing 2 24 Ig-like. integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2) 19 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGCTGCACGCTCAGGCTTG 0.622000 4 13 0 0 1 0 0 PGLYRP1 8993 broad.mit.edu 37 19 46522611 46522611 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:46522611C>T ENST00000008938.4 - 3 519 c.476G>A c.(475-477)gGa>gAa p.G159E CCDC61_ENST00000601763.1_Intron NM_005091.2 NP_005082.1 O75594 PGRP1_HUMAN peptidoglycan recognition protein 1 159 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|large_intestine(3)|lung(3)|ovary(2) 10 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208) CCTCAGGGCTCCCTGAGCCAC 0.632000 7 43 0 0 1 0 0 AGAP5 729092 broad.mit.edu 37 10 75457466 75457466 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr10:75457466C>T ENST00000443782.2 - 1 173 c.48G>A c.(46-48)gaG>gaA p.E16E RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000374094.4_Silent_p.E16E A6NIR3 AGAP5_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 16 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1) 12 GCTGGTCAAACTCGAGGCTGA 0.602000 6 45 0 0 1 0 0 SUV420H1 51111 broad.mit.edu 37 11 67925492 67925492 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr11:67925492G>C ENST00000304363.4 - 11 2674 c.2321C>G c.(2320-2322)tCt>tGt p.S774C NM_017635.3 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 (Drosophila) 774 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 TAATTTTGTAGAACTACTGCC 0.383000 34 100 0 0 1 0 0 ALAS1 211 broad.mit.edu 37 3 52245381 52245381 + Missense_Mutation SNP C C A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr3:52245381C>A ENST00000394965.2 + 10 1773 c.1413C>A c.(1411-1413)ttC>ttA p.F471L ALAS1_ENST00000484952.1_Missense_Mutation_p.F471L|ALAS1_ENST00000310271.2_Missense_Mutation_p.F471L|ALAS1_ENST00000469224.1_Missense_Mutation_p.F471L NM_000688.5 NP_000679.1 P13196 HEM1_HUMAN aminolevulinate, delta-, synthase 1 471 heme biosynthetic process mitochondrial matrix 5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CTGCTGGCTTCATCTTCACCA 0.597000 8 20 1.06961e-07 1.1533e-07 1 1 0 PALB2 79728 broad.mit.edu 37 16 23641335 23641335 + Missense_Mutation SNP C C T rs45537237 TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr16:23641335C>T ENST00000261584.4 - 5 2292 c.2140G>A c.(2140-2142)Gat>Aat p.D714N NM_024675.3 NP_078951.2 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 714 double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) TCATTATCATCAGGCGCAACC 0.453000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 20 93 0 0 1 0 0 C6orf58 352999 broad.mit.edu 37 6 127901424 127901424 + Missense_Mutation SNP C C A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr6:127901424C>A ENST00000329722.7 + 3 415 c.403C>A c.(403-405)Ctg>Atg p.L135M NM_001010905.1 NP_001010905.1 Q6P5S2 CF058_HUMAN chromosome 6 open reading frame 58 135 extracellular region kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1) 15 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) GAATTATTTTCTGTCTTCATT 0.358000 6 37 0.00116845 0.00118456 1 1 0 PTGS1 5742 broad.mit.edu 37 9 125140275 125140275 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr9:125140275C>T ENST00000362012.2 + 3 197 c.192C>T c.(190-192)tcC>tcT p.S64S PTGS1_ENST00000373698.5_5'UTR|PTGS1_ENST00000540753.1_Silent_p.S39S|PTGS1_ENST00000223423.4_Silent_p.S64S NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2 NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 64 EGF-like. cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) CGGGCTATTCCGGCCCCAACT 0.607000 4 43 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24397660 24397660 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:24397660G>C ENST00000330966.7 - 25 3262 c.3100C>G c.(3100-3102)Cca>Gca p.P1034A MYOM3_ENST00000329601.7_Missense_Mutation_p.P1033A|RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.P1033A Q5VTT5 MYOM3_HUMAN myomesin 3 1033 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TCAGCGGCTGGAGATAACTTT 0.552000 OREG0013235 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 29 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74004948 74004948 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr17:74004948G>C ENST00000301607.3 - 22 4591 c.4338C>G c.(4336-4338)atC>atG p.I1446M EVPL_ENST00000586740.1_Missense_Mutation_p.I1468M NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1446 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CGAGCTCCTGGATCCTCAAGG 0.642000 8 102 0 0 1 0 0 CC2D1A 54862 broad.mit.edu 37 19 14040913 14040913 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:14040913G>A ENST00000318003.7 + 27 2974 c.2733G>A c.(2731-2733)cgG>cgA p.R911R CC2D1A_ENST00000589606.1_Silent_p.R910R NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 911 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) AGCTGGAGCGGCAGCTGCAGT 0.687000 5 17 0 0 1 0 0 ZNF791 163049 broad.mit.edu 37 19 12740056 12740056 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:12740056G>C ENST00000343325.4 + 4 1875 c.1713G>C c.(1711-1713)atG>atC p.M571I ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Missense_Mutation_p.M462I|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.M539I NM_153358.2 NP_699189.2 Q3KP31 ZN791_HUMAN zinc finger protein 791 571 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3) 19 AAAAACATATGAGAATGCACA 0.338000 9 58 0 0 1 0 0 FBLN1 2192 broad.mit.edu 37 22 45928970 45928970 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr22:45928970G>A ENST00000348697.2 + 6 719 c.572G>A c.(571-573)cGa>cAa p.R191Q FBLN1_ENST00000442170.2_Missense_Mutation_p.R191Q|FBLN1_ENST00000402984.3_Missense_Mutation_p.R229Q|FBLN1_ENST00000327858.6_Missense_Mutation_p.R191Q|FBLN1_ENST00000340923.5_Missense_Mutation_p.R191Q|FBLN1_ENST00000262722.7_Missense_Mutation_p.R191Q P23142 FBLN1_HUMAN fibulin 1 191 EGF-like 1. interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) CAGCAGTGCCGAGACACGGGT 0.627000 7 41 0 0 1 0 0 EPAS1 2034 broad.mit.edu 37 2 46607645 46607645 + Missense_Mutation SNP G G A rs142445582 TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:46607645G>A ENST00000263734.3 + 12 2344 c.1834G>A c.(1834-1836)Gga>Aga p.G612R NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 612 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) CTTTGATGCCGGAAGCAAAGC 0.607000 4 85 0 0 1 0 0 UQCRC2 7385 broad.mit.edu 37 16 21968618 21968618 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr16:21968618G>A ENST00000268379.4 + 2 860 c.96G>A c.(94-96)ccG>ccA p.P32P UQCRC2_ENST00000561553.1_Silent_p.P32P NM_003366.2 NP_003357.2 P22695 QCR2_HUMAN ubiquinol-cytochrome c reductase core protein II 32 aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1) 15 GBM - Glioblastoma multiforme(48;0.0264) CAGGAGCACCGCCACAACCTC 0.448000 6 28 0 0 1 0 0 C1orf35 79169 broad.mit.edu 37 1 228289066 228289066 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:228289066G>A ENST00000272139.4 - 7 876 c.642C>T c.(640-642)gcC>gcT p.A214A C1orf35_ENST00000472617.1_5'UTR NM_024319.2 NP_077295.1 Q9BU76 MMTA2_HUMAN chromosome 1 open reading frame 35 214 large_intestine(1)|lung(1)|skin(1) 3 Prostate(94;0.0488) GAGAGGAGGTGGCCTCAGCTG 0.522000 4 11 0 0 1 0 0 OR52R1 119695 broad.mit.edu 37 11 4825760 4825760 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr11:4825760C>T ENST00000380382.1 - 1 87 c.88G>A c.(88-90)Gaa>Aaa p.E30K MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AGAATAATTTCAACTGTTTTA 0.299000 10 45 0 0 1 0 0 RNF10 9921 broad.mit.edu 37 12 120995453 120995453 + Nonsense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr12:120995453G>A ENST00000325954.4 + 6 1396 c.935G>A c.(934-936)tGg>tAg p.W312* RNF10_ENST00000413266.2_Nonsense_Mutation_p.W312* NM_014868.4 NP_055683.3 Q8N5U6 RNF10_HUMAN ring finger protein 10 312 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AAATCCAAATGGATGAATGTA 0.413000 29 72 0 0 1 0 0 ZNF470 388566 broad.mit.edu 37 19 57088911 57088911 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:57088911G>C ENST00000330619.8 + 6 1800 c.1114G>C c.(1114-1116)Gac>Cac p.D372H ZNF470_ENST00000391709.3_Missense_Mutation_p.D372H|ZNF470_ENST00000601902.1_Intron NM_001001668.3 NP_001001668.3 Q6ECI4 ZN470_HUMAN zinc finger protein 470 372 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) TGAATGTATTGACTGTGGGAA 0.423000 25 29 0 0 1 0 0 NEK1 4750 broad.mit.edu 37 4 170459006 170459006 + Missense_Mutation SNP C C A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr4:170459006C>A ENST00000439128.2 - 18 2259 c.1619G>T c.(1618-1620)cGa>cTa p.R540L NEK1_ENST00000510533.1_Missense_Mutation_p.R496L|NEK1_ENST00000507142.1_Missense_Mutation_p.R540L|NEK1_ENST00000512193.1_Missense_Mutation_p.R471L|NEK1_ENST00000511633.1_Missense_Mutation_p.R496L NM_012224.2 NP_036356.1 Q96PY6 NEK1_HUMAN NIMA-related kinase 1 540 cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R540Q(2) NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1) 45 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) TTCCCGTTTTCGCTGCAGGAA 0.393000 34 161 1.57351e-24 1.75232e-24 1 1 0 IL20RB 53833 broad.mit.edu 37 3 136714356 136714356 + Silent SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr3:136714356C>G ENST00000329582.4 + 6 1032 c.783C>G c.(781-783)ctC>ctG p.L261L IL20RB_ENST00000309741.5_3'UTR NM_144717.3 NP_653318.2 Q6UXL0 I20RB_HUMAN interleukin 20 receptor beta 261 integral to membrane receptor activity kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GCCGGCTGCTCCAGTACTCCT 0.527000 27 191 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86201800 86201800 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr15:86201800G>A ENST00000394518.2 + 12 4873 c.4778G>A c.(4777-4779)aGa>aAa p.R1593K RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Intron NM_001270546.1|NM_007200.4 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 1593 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 GTTGTCAGGAGACCTCCCATT 0.413000 14 75 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30531205 30531205 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr16:30531205G>A ENST00000356798.6 + 30 3436 c.3256G>A c.(3256-3258)Gag>Aag p.E1086K ITGAL_ENST00000358164.5_Missense_Mutation_p.E1002K|ITGAL_ENST00000433423.2_Missense_Mutation_p.E320K NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 1086 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) CGTGGTGTATGAGAAGCAGAT 0.577000 58 87 0 0 1 0 0 SHPRH 257218 broad.mit.edu 37 6 146231621 146231621 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr6:146231621G>A ENST00000367503.3 - 25 4888 c.4490C>T c.(4489-4491)tCa>tTa p.S1497L SHPRH_ENST00000275233.7_Missense_Mutation_p.S1493L|SHPRH_ENST00000367505.2_Missense_Mutation_p.S1493L|SHPRH_ENST00000438092.2_Missense_Mutation_p.S1497L NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 1493 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) TGCTTTCTCTGAGGTAAAGAC 0.428000 14 79 0 0 1 0 0 PIP4K2A 5305 broad.mit.edu 37 10 22830862 22830862 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr10:22830862C>T ENST00000376573.4 - 8 1135 c.907G>A c.(907-909)Gag>Aag p.E303K PIP4K2A_ENST00000545335.1_Missense_Mutation_p.E244K|PIP4K2A_ENST00000323883.7_Missense_Mutation_p.E163K NM_005028.4 NP_005019.2 P48426 PI42A_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, alpha 303 PIPK. 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 29 CCATCGCTCTCGCCCTCCTCC 0.602000 38 30 0 0 1 0 0 SRGAP1 57522 broad.mit.edu 37 12 64536328 64536328 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr12:64536328G>C ENST00000355086.3 + 22 3658 c.3134G>C c.(3133-3135)aGa>aCa p.R1045T SRGAP1_ENST00000357825.3_Missense_Mutation_p.R1022T|SRGAP1_ENST00000543397.1_Missense_Mutation_p.R982T NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 1045 axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) GTGGCACCCAGAATGGGCGTG 0.557000 12 61 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 167760088 167760088 + Silent SNP T T C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:167760088T>C ENST00000409195.1 + 2 185 c.96T>C c.(94-96)caT>caC p.H32H XIRP2_ENST00000409756.2_Silent_p.H32H|XIRP2_ENST00000409043.1_Silent_p.H32H|XIRP2_ENST00000295237.9_Silent_p.H32H|XIRP2_ENST00000420519.1_Silent_p.H32H|XIRP2_ENST00000409728.1_Silent_p.H32H NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GGGACAGCCATTGTACAATTT 0.488000 3 31 0 0 1 0 0 AGAP7 653268 broad.mit.edu 37 10 51472588 51472588 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr10:51472588G>A ENST00000374095.5 - 4 517 c.392C>T c.(391-393)aCa>aTa p.T131I NM_001077685.1 NP_001071153.1 Q5VUJ5 AGAP7_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 131 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 11 CTGGATGGCTGTGCTGTCATC 0.378000 4 154 0 0 1 0 0 C8orf4 56892 broad.mit.edu 37 8 40011207 40011207 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr8:40011207C>T ENST00000315792.3 + 1 219 c.156C>T c.(154-156)ttC>ttT p.F52F NM_020130.4 NP_064515 Q9NR00 CH004_HUMAN chromosome 8 open reading frame 4 52 apoptosis breast(1)|large_intestine(1)|ovary(1) 3 Ovarian(28;0.0173) all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141) LUSC - Lung squamous cell carcinoma(45;0.000149) KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111) AAAGGCTCTTCAGAAACTCTG 0.483000 5 28 0 0 1 0 0 SLC5A9 200010 broad.mit.edu 37 1 48688454 48688454 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:48688454G>A ENST00000236495.5 + 1 96 c.46G>A c.(46-48)Ggg>Agg p.G16R SLC5A9_ENST00000420136.2_Missense_Mutation_p.G9R|SLC5A9_ENST00000533824.1_Missense_Mutation_p.G16R|SLC5A9_ENST00000438567.2_Missense_Mutation_p.G16R NM_001135181.1 NP_001128653.1 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 9 16 integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1) 26 TTCAGGGGACGGGGTCAGGAC 0.562000 6 20 0 0 1 0 0 FUCA2 2519 broad.mit.edu 37 6 143823506 143823506 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr6:143823506C>T ENST00000002165.6 - 4 1004 c.949G>A c.(949-951)Gaa>Aaa p.E317K RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000367585.1_Intron NM_032020.4 NP_114409.2 Q9BTY2 FUCO2_HUMAN fucosidase, alpha-L- 2, plasma fucose metabolic process extracellular region alpha-L-fucosidase activity|cation binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142) ACCAATTCTTCAATTGTAAGA 0.393000 10 96 0 0 1 0 0 SYBU 55638 broad.mit.edu 37 8 110592184 110592184 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr8:110592184C>T ENST00000399066.3 - 4 1296 c.569G>A c.(568-570)gGc>gAc p.G190D SYBU_ENST00000422135.1_Missense_Mutation_p.G193D|SYBU_ENST00000424158.2_Missense_Mutation_p.G198D|SYBU_ENST00000529175.1_5'UTR|SYBU_ENST00000446070.2_Missense_Mutation_p.G192D|SYBU_ENST00000433638.1_Missense_Mutation_p.G193D|SYBU_ENST00000528331.1_Missense_Mutation_p.G74D|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000533171.1_Missense_Mutation_p.G193D|SYBU_ENST00000532779.1_Missense_Mutation_p.G125D|SYBU_ENST00000529690.1_Missense_Mutation_p.G63D|SYBU_ENST00000276646.9_Missense_Mutation_p.G193D|SYBU_ENST00000408889.3_Missense_Mutation_p.G74D|SYBU_ENST00000533895.1_Missense_Mutation_p.G192D|SYBU_ENST00000533065.1_Missense_Mutation_p.G74D|SYBU_ENST00000419099.1_Missense_Mutation_p.G192D|SYBU_ENST00000440310.1_Missense_Mutation_p.G193D|SYBU_ENST00000528647.1_Missense_Mutation_p.G192D|SYBU_ENST00000408908.2_Missense_Mutation_p.G193D NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 193 Ser-rich.|Sufficient for interaction with KIF5B. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 TGGGCTGCTGCCAGGCTTGTG 0.517000 17 181 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197390557 197390557 + Silent SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:197390557G>C ENST00000367400.3 + 6 1734 c.1599G>C c.(1597-1599)gtG>gtC p.V533V CRB1_ENST00000538660.1_Silent_p.V533V|CRB1_ENST00000544212.1_Silent_p.V14V|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000535699.1_Silent_p.V464V|CRB1_ENST00000367399.2_Silent_p.V421V|CRB1_ENST00000543483.1_Silent_p.V232V NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 533 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 ATGTGTTTGTGAAGCTGGAGC 0.458000 19 69 0 0 1 0 0 NETO1 81832 broad.mit.edu 37 18 70416325 70416325 + Splice_Site SNP T T A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr18:70416325T>A ENST00000327305.6 - 10 2199 c.e10-2 NETO1_ENST00000299430.2_Splice_Site|NETO1_ENST00000583169.1_Splice_Site NM_138966.3 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) AGGCAGAACCTGGAATGTTAT 0.333000 9 69 0 0 1 0 0 EPHB3 2049 broad.mit.edu 37 3 184294777 184294777 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr3:184294777C>T ENST00000330394.2 + 5 1612 c.1160C>T c.(1159-1161)tCa>tTa p.S387L EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 387 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) GGAGGGGCCTCAGCCTGCTCA 0.642000 12 90 0 0 1 0 0 ANKDD1A 348094 broad.mit.edu 37 15 65226398 65226398 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr15:65226398C>T ENST00000380230.3 + 9 860 c.831C>T c.(829-831)ctC>ctT p.L277L ANKDD1A_ENST00000395720.1_Silent_p.L277L|ANKDD1A_ENST00000395723.1_Silent_p.L186L|ANKDD1A_ENST00000357698.3_Silent_p.L277L NM_182703.3 NP_874362.3 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A 277 signal transduction NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2) 21 CTCGGGTCCTCATCCACGCAG 0.522000 5 28 0 0 1 0 0 CC2D2A 57545 broad.mit.edu 37 4 15538687 15538687 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr4:15538687G>C ENST00000424120.1 + 15 2006 c.1752G>C c.(1750-1752)tgG>tgC p.W584C CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000389652.5_Missense_Mutation_p.W535C|CC2D2A_ENST00000503292.1_Missense_Mutation_p.W584C|CC2D2A_ENST00000413206.1_Missense_Mutation_p.W584C Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A 584 cell projection organization cilium|microtubule basal body NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2) 32 GGAAGGCCTGGAGGAAAGTGC 0.498000 3 15 0 0 1 0 0 ZNF93 81931 broad.mit.edu 37 19 20026126 20026126 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:20026126C>G ENST00000343769.5 + 2 69 c.41C>G c.(40-42)tCt>tGt p.S14C ZNF93_ENST00000592160.1_Missense_Mutation_p.S14C|ZNF93_ENST00000591366.1_Missense_Mutation_p.S14C|AC007204.2_ENST00000592245.1_lincRNA NM_031218.3 NP_112495.2 P35789 ZNF93_HUMAN zinc finger protein 93 14 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 24 ATAGAATTCTCTCTGGAGGAG 0.423000 43 119 0 0 1 0 0 TTC26 79989 broad.mit.edu 37 7 138853113 138853113 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr7:138853113C>T ENST00000464848.1 + 11 1055 c.975C>T c.(973-975)gtC>gtT p.V325V TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000343187.4_Silent_p.V294V|TTC26_ENST00000430935.1_Silent_p.V325V|TTC26_ENST00000495038.1_Silent_p.V194V|TTC26_ENST00000478836.2_Silent_p.V218V A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 325 binding breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 24 AAGGAGTGGTCAATGCAGCCC 0.368000 15 23 0 0 1 0 0 WIBG 84305 broad.mit.edu 37 12 56296112 56296112 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr12:56296112G>C ENST00000408946.2 - 3 310 c.159C>G c.(157-159)ttC>ttG p.F53L WIBG_ENST00000302533.6_5'UTR|WIBG_ENST00000398213.4_Missense_Mutation_p.F52L|WIBG_ENST00000547925.1_3'UTR|WIBG_ENST00000557259.1_3'UTR NM_032345.2 NP_115721.1 Q9BRP8 WIBG_HUMAN within bgcn homolog (Drosophila) 53 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm protein binding|ribosome binding|RNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 GTTTACTCTTGAAAAACTTCA 0.463000 13 58 0 0 1 0 0 RBP2 5948 broad.mit.edu 37 3 139173591 139173591 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr3:139173591C>T ENST00000232217.2 - 3 390 c.334G>A c.(334-336)Gag>Aag p.E112K RP11-319G6.1_ENST00000515247.1_RNA NM_004164.2 NP_004155.2 P50120 RET2_HUMAN retinol binding protein 2, cellular 112 epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process cytosol retinal binding|retinol binding|transporter activity breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Vitamin A(DB00162) TTGTCCCCCTCAATCCACTGC 0.527000 7 70 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61834323 61834323 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr10:61834323C>T ENST00000280772.2 - 37 6507 c.6316G>A c.(6316-6318)Gat>Aat p.D2106N ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding p.D2106N(1) NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 AAAATAGTATCTGTTCCAAAA 0.413000 6 49 0 0 1 0 0 PPP3CB 5532 broad.mit.edu 37 10 75214202 75214202 + Missense_Mutation SNP T T A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr10:75214202T>A ENST00000360663.5 - 10 1265 c.1154A>T c.(1153-1155)gAa>gTa p.E385V PPP3CB_ENST00000545874.1_Missense_Mutation_p.E299V|PPP3CB_ENST00000394828.2_Missense_Mutation_p.E385V|PPP3CB_ENST00000394822.2_Missense_Mutation_p.E403V|PPP3CB_ENST00000394829.2_Missense_Mutation_p.E385V|PPP3CB_ENST00000342558.3_Missense_Mutation_p.E385V|PPP3CB_ENST00000544628.1_Missense_Mutation_p.E13V P16298 PP2BB_HUMAN protein phosphatase 3, catalytic subunit, beta isozyme 385 breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1) 22 Prostate(51;0.0119) AGTCATTAGTTCATCATCAGA 0.323000 14 44 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48367985 48367985 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr12:48367985C>T ENST00000380518.3 - 53 4368 c.4204G>A c.(4204-4206)Gaa>Aaa p.E1402K COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.E1333K NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 1402 Fibrillar collagen NC1. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CCAGCTGCTTCGTCCAGATAG 0.567000 10 32 0 0 1 0 0 MROH8 140699 broad.mit.edu 37 20 35802469 35802469 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr20:35802469G>A ENST00000400441.3 - 3 307 c.308C>T c.(307-309)tCa>tTa p.S103L MROH8_ENST00000441008.2_Missense_Mutation_p.S89L|MROH8_ENST00000217333.8_Missense_Mutation_p.S18L maestro heat-like repeat family member 8 CACACTTTCTGAATCACTGTC 0.413000 11 15 0 0 1 0 0 MMP19 4327 broad.mit.edu 37 12 56231058 56231058 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr12:56231058G>A ENST00000394182.1 - 4 430 c.431C>T c.(430-432)tCg>tTg p.S144L MMP19_ENST00000322569.4_Missense_Mutation_p.S430L|MMP19_ENST00000548629.1_Missense_Mutation_p.S407L|MMP19_ENST00000409200.3_3'UTR Q99542 MMP19_HUMAN matrix metallopeptidase 19 430 angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 26 CATAGCAGCCGAGGGCTGGTT 0.557000 50 131 0 0 1 0 0 ZNF527 84503 broad.mit.edu 37 19 37879587 37879587 + Silent SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:37879587C>G ENST00000436120.2 + 5 743 c.636C>G c.(634-636)ctC>ctG p.L212L ZNF527_ENST00000587349.1_Intron NM_032453.1 NP_115829.1 Q8NB42 ZN527_HUMAN zinc finger protein 527 212 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATAAAAGACTCCATGCTGAGA 0.343000 4 72 0 0 1 0 0 IDUA 3425 broad.mit.edu 37 4 998117 998117 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr4:998117C>T ENST00000453894.1 + 11 2052 c.1964C>T c.(1963-1965)tCg>tTg p.S655L IDUA_ENST00000514224.1_Missense_Mutation_p.S501L|IDUA_ENST00000247933.4_Missense_Mutation_p.S633L P35475 IDUA_HUMAN iduronidase, alpha-L- 633 disaccharide metabolic process lysosome cation binding|L-iduronidase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(23;0.0158) Laronidase(DB00090) GGCCCCTTCTCGGACCCTGTG 0.657000 18 25 0 0 1 0 0 DFNA5 1687 broad.mit.edu 37 7 24745822 24745822 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr7:24745822G>C ENST00000545231.1 - 10 1822 c.672C>G c.(670-672)ttC>ttG p.F224L DFNA5_ENST00000342947.3_Missense_Mutation_p.F388L|DFNA5_ENST00000409970.1_Missense_Mutation_p.F224L|DFNA5_ENST00000409775.3_Missense_Mutation_p.F388L|DFNA5_ENST00000419307.1_Missense_Mutation_p.F224L O60443 DFNA5_HUMAN deafness, autosomal dominant 5 388 sensory perception of sound endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1) 19 CACTGACCAAGAAGTAGGCTG 0.532000 9 54 0 0 1 0 0 DAXX 1616 broad.mit.edu 37 6 33288586 33288586 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr6:33288586G>A ENST00000374542.5 - 3 1170 c.966C>T c.(964-966)atC>atT p.I322I DAXX_ENST00000477162.1_Intron|DAXX_ENST00000414083.2_Silent_p.I247I|DAXX_ENST00000266000.6_Silent_p.I322I NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 322 activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 CCTGTAACCTGATGCCCACAT 0.592000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 18 61 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78343322 78343322 + Missense_Mutation SNP C C T rs142466553 TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr17:78343322C>T ENST00000582970.1 + 45 12319 c.12176C>T c.(12175-12177)gCc>gTc p.A4059V RNF213_ENST00000508628.2_Missense_Mutation_p.A4108V|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.A2132V NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GAAAAGCATGCCCGCTTCCGG 0.498000 6 112 0 0 1 0 0 SPATA20 64847 broad.mit.edu 37 17 48626711 48626711 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr17:48626711G>A ENST00000006658.6 + 7 845 c.725G>A c.(724-726)cGa>cAa p.R242Q SPATA20_ENST00000393244.3_Missense_Mutation_p.R182Q|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000356488.4_Missense_Mutation_p.R226Q NM_022827.3 NP_073738.2 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 226 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) CTGCTGGCCCGATCAGAGATC 0.602000 9 40 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189870125 189870125 + Missense_Mutation SNP C C A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:189870125C>A ENST00000304636.3 + 41 3151 c.2981C>A c.(2980-2982)cCc>cAc p.P994H COL3A1_ENST00000317840.5_Intron NM_000090.3 NP_000081 P02461 CO3A1_HUMAN collagen, type III, alpha 1 994 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GAACGTGGTCCCCCTGGACCC 0.453000 6 49 1.26484e-09 1.38411e-09 1 1 0 P2RY4 5030 broad.mit.edu 37 X 69479118 69479118 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chrX:69479118G>A ENST00000374519.2 - 1 536 c.357C>T c.(355-357)ctC>ctT p.L119L NM_002565.3 NP_002556.1 P51582 P2RY4_HUMAN pyrimidinergic receptor P2Y, G-protein coupled, 4 119 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled cervix(2)|endometrium(2)|large_intestine(8)|lung(6) 18 CACTGCAGTAGAGGTTCCAAT 0.582000 3 7 0 0 1 0 0 CARD14 79092 broad.mit.edu 37 17 78175633 78175633 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr17:78175633G>A ENST00000573882.1 + 16 2478 c.1942G>A c.(1942-1944)Ggc>Agc p.G648S CARD14_ENST00000344227.2_Missense_Mutation_p.G648S|RP11-334C17.5_ENST00000570309.1_RNA|CARD14_ENST00000392434.2_Intron|RP11-334C17.5_ENST00000576824.1_RNA|CARD14_ENST00000570421.1_Missense_Mutation_p.G648S|RP11-334C17.5_ENST00000573935.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA Q9BXL6 CAR14_HUMAN caspase recruitment domain family, member 14 648 PDZ. DYEASEPLFKAVLEDTTLEEAVGLLRRVDGFCCLSVKVNTD GYKRLLQDLEAK -> SRARPLLSPGLLMGTVAAGGVTQAD FTSPRRCRSTLGWASALSWADVKRSAHL (in Ref. 4; AAH01326). activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1) 23 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GAGGGTGGACGGCTTCTGCTG 0.592000 13 22 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103412824 103412824 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr14:103412824G>A ENST00000361246.2 - 28 4017 c.3729C>T c.(3727-3729)atC>atT p.I1243I NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 1243 CNH. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) CAGCTGTCAGGATGGCCTTGA 0.552000 4 25 0 0 1 0 0 LACTB2 51110 broad.mit.edu 37 8 71581315 71581315 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr8:71581315C>G ENST00000276590.4 - 1 77 c.41G>C c.(40-42)cGa>cCa p.R14P LACTB2_ENST00000522447.1_Missense_Mutation_p.R14P NM_016027.2 NP_057111.1 Q53H82 LACB2_HUMAN lactamase, beta 2 14 hydrolase activity|metal ion binding endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1) 10 Breast(64;0.0716) Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166) ACGCACGACTCGATTGGACAG 0.647000 OREG0018822 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 19 0 0 1 0 0 SHKBP1 92799 broad.mit.edu 37 19 41097017 41097017 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:41097017C>T ENST00000291842.5 + 18 2077 c.2028C>T c.(2026-2028)gaC>gaT p.D676D SHKBP1_ENST00000600733.1_Silent_p.D651D NM_138392.3 NP_612401.2 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 676 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GTGGGCCAGACCTCCGACGGC 0.667000 9 13 0 0 1 0 0 TMEM200C 645369 broad.mit.edu 37 18 5891629 5891629 + Missense_Mutation SNP G G T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr18:5891629G>T ENST00000581347.2 - 3 1079 c.434C>A c.(433-435)tCc>tAc p.S145Y TMEM200C_ENST00000383490.2_Missense_Mutation_p.S145Y|RP11-945C19.4_ENST00000577694.1_RNA A6NKL6 T200C_HUMAN transmembrane protein 200C integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1) 12 GGACGTGGAGGAGGAGGACGG 0.657000 9 60 1.76689e-08 1.9145e-08 1 1 0 DHPS 1725 broad.mit.edu 37 19 12792434 12792434 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:12792434G>A ENST00000210060.7 - 1 282 c.147C>T c.(145-147)ttC>ttT p.F49F DHPS_ENST00000351660.5_Silent_p.F49F NM_001930.3 NP_001921.1 P49366 DHYS_HUMAN deoxyhypusine synthase 49 peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation cytosol deoxyhypusine synthase activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2) 8 Sulfadoxine(DB01299) CGGTGGTGCCGAAGGCCTCCA 0.632000 11 34 0 0 1 0 0 HIST2H2BF 440689 broad.mit.edu 37 1 149783657 149783657 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:149783657G>A ENST00000427880.2 - 1 268 c.222C>T c.(220-222)atC>atT p.I74I HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000369167.1_Silent_p.I74I|HIST2H2BF_ENST00000545683.1_Silent_p.I74I Q5QNW6 H2B2F_HUMAN histone cluster 2, H2bf 74 nucleosome assembly nucleosome|nucleus DNA binding p.I74I(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Breast(34;0.0124)|all_hematologic(923;0.127) CCTCTCCCGCGATGCGCTCGA 0.642000 29 63 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27687896 27687896 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr10:27687896C>G ENST00000438700.3 - 4 1748 c.1631G>C c.(1630-1632)aGa>aCa p.R544T NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 544 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 GACTACTTCTCTTTTACCATC 0.388000 76 80 0 0 1 0 0 MMRN1 22915 broad.mit.edu 37 4 90857607 90857607 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr4:90857607G>A ENST00000394980.1 + 7 3095 c.2776G>A c.(2776-2778)Gaa>Aaa p.E926K MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.E668K|MMRN1_ENST00000264790.2_Missense_Mutation_p.E926K Q13201 MMRN1_HUMAN multimerin 1 926 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen p.E926K(1) breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) AACTCTCCACGAAGTTTTAAC 0.373000 3 42 0 0 1 0 0 XAF1 54739 broad.mit.edu 37 17 6665505 6665505 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr17:6665505C>G ENST00000361842.3 + 5 692 c.453C>G c.(451-453)atC>atG p.I151M XAF1_ENST00000346752.4_Missense_Mutation_p.I132M|XAF1_ENST00000441631.1_Missense_Mutation_p.I151M NM_017523.3 NP_059993.2 Q6GPH4 XAF1_HUMAN XIAP associated factor 1 151 apoptosis|type I interferon-mediated signaling pathway mitochondrion|nucleus zinc ion binding large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1) 6 AAAGGGAAATCTACTGTCATT 0.403000 6 38 0 0 1 0 0 PDE1B 5153 broad.mit.edu 37 12 54969789 54969789 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr12:54969789C>T ENST00000243052.3 + 13 1717 c.1281C>T c.(1279-1281)ttC>ttT p.F427F PDE1B_ENST00000394277.3_3'UTR|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000538346.1_Silent_p.F386F|PDE1B_ENST00000550620.1_Silent_p.F407F NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 427 Catalytic (By similarity). activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 TCATCGACTTCATTGTGGAGC 0.552000 16 48 0 0 1 0 0 PSMA6 5687 broad.mit.edu 37 14 35786505 35786505 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr14:35786505G>C ENST00000261479.4 + 7 854 c.734G>C c.(733-735)aGa>aCa p.R245T PSMA6_ENST00000553809.1_Missense_Mutation_p.R251T|PSMA6_ENST00000540871.1_Missense_Mutation_p.R226T|PSMA6_ENST00000556506.1_3'UTR|PSMA6_ENST00000555764.1_Missense_Mutation_p.R166T|KIAA0391_ENST00000557565.1_3'UTR NM_002791.1 NP_002782.1 P60900 PSA6_HUMAN proteasome (prosome, macropain) subunit, alpha type, 6 245 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1) 10 Breast(36;0.0519)|Hepatocellular(127;0.158) Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973) GBM - Glioblastoma multiforme(112;0.0234) CTAGCAGAGAGAGACTAAACA 0.393000 13 68 0 0 1 0 0 KCNJ5 3762 broad.mit.edu 37 11 128781577 128781577 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr11:128781577G>A ENST00000529694.1 + 2 785 c.409G>A c.(409-411)Gtg>Atg p.V137M KCNJ5_ENST00000338350.4_Missense_Mutation_p.V137M|KCNJ5_ENST00000533599.1_Missense_Mutation_p.V137M NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 137 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) CAGTGGCTTCGTGTCCGCTTT 0.502000 5 95 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74004348 74004348 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr17:74004348G>A ENST00000301607.3 - 22 5191 c.4938C>T c.(4936-4938)ctC>ctT p.L1646L EVPL_ENST00000586740.1_Silent_p.L1668L NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1646 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CCTTCTCGCGGAGGATGGCCG 0.677000 5 31 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117743312 117743312 + Splice_Site SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chrX:117743312G>A ENST00000276204.6 + 27 3023 c.2949G>A c.(2947-2949)aaG>aaA p.K983K DOCK11_ENST00000276202.7_Splice_Site_p.K983K Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 983 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 ATAAGATTAAGGTAAGTAAAT 0.269000 7 12 0 0 1 0 0 ZNF791 163049 broad.mit.edu 37 19 12740070 12740070 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:12740070G>A ENST00000343325.4 + 4 1889 c.1727G>A c.(1726-1728)cGa>cAa p.R576Q ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Missense_Mutation_p.R467Q|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.R544Q NM_153358.2 NP_699189.2 Q3KP31 ZN791_HUMAN zinc finger protein 791 576 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3) 19 ATGCACAATCGATAGAAACTC 0.338000 5 43 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105416541 105416541 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr14:105416541C>G ENST00000333244.5 - 7 5366 c.5247G>C c.(5245-5247)ttG>ttC p.L1749F AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1749 nucleus p.L1749F(1) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGGGCATCTTCAAACTGGGCA 0.652000 52 149 0 0 1 0 0 FANCI 55215 broad.mit.edu 37 15 89844663 89844663 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr15:89844663C>T ENST00000310775.7 + 27 3082 c.2996C>T c.(2995-2997)tCc>tTc p.S999F FANCI_ENST00000300027.8_Missense_Mutation_p.S939F NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 999 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) CTGGAGCCCTCCTCTCCTCAG 0.408000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 11 42 0 0 1 0 0 PHF20L1 51105 broad.mit.edu 37 8 133829167 133829167 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr8:133829167C>G ENST00000395386.2 + 11 1517 c.1218C>G c.(1216-1218)ttC>ttG p.F406L PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Missense_Mutation_p.F381L NM_016018.4 NP_057102.4 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 406 nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2) 15 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) CTAGACCTTTCAAGCATAGTG 0.453000 10 61 0 0 1 0 0 NOP10 55505 broad.mit.edu 37 15 34634284 34634284 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr15:34634284G>C ENST00000328848.4 - 2 183 c.80C>G c.(79-81)aCc>aGc p.T27S NOP10_ENST00000557912.1_Intron NM_018648.3 NP_061118.1 Q9NPE3 NOP10_HUMAN NOP10 ribonucleoprotein 27 pseudouridine synthesis|rRNA processing Cajal body|nucleolus|small nucleolar ribonucleoprotein complex protein binding lung(1)|ovary(1) 2 GGCTGAGCAGGTCTGTTGTCC 0.522000 4 25 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118574410 118574410 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:118574410C>G ENST00000336338.5 - 25 3579 c.3514G>C c.(3514-3516)Gtt>Ctt p.V1172L NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1172 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CTTTGAGGAACGGTCACTATA 0.353000 7 73 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56490800 56490800 + Missense_Mutation SNP A A G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:56490800A>G ENST00000291971.3 + 9 2988 c.2917A>G c.(2917-2919)Atg>Gtg p.M973V NLRP8_ENST00000590542.1_Missense_Mutation_p.M954V NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 973 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CTGCCAGGCCATGGCTTCCAT 0.507000 7 67 0 0 1 0 0 RAB34 83871 broad.mit.edu 37 17 27044000 27044000 + Nonsense_Mutation SNP C C A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr17:27044000C>A ENST00000395245.3 - 2 693 c.67G>T c.(67-69)Gag>Tag p.E23* RAB34_ENST00000415040.2_Nonsense_Mutation_p.E23*|RAB34_ENST00000447716.1_Nonsense_Mutation_p.E80*|RAB34_ENST00000395242.2_Nonsense_Mutation_p.E23*|RAB34_ENST00000450529.1_Nonsense_Mutation_p.E23*|RAB34_ENST00000395243.3_Nonsense_Mutation_p.E23*|RAB34_ENST00000453384.3_Nonsense_Mutation_p.E80*|RAB34_ENST00000301043.6_Nonsense_Mutation_p.E23*|RAB34_ENST00000436730.3_Nonsense_Mutation_p.E23* NM_001256281.1|NM_031934.5 NP_001243210.1|NP_114140.4 Q9BZG1 RAB34_HUMAN RAB34, member RAS oncogene family 23 protein transport|small GTPase mediated signal transduction Golgi apparatus GTP binding endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2) 14 Lung NSC(42;0.00431) AAAGCGGCCTCCTTCCTCAGG 0.642000 14 35 1.3612e-06 1.44301e-06 1 1 0 ADAM23 8745 broad.mit.edu 37 2 207457381 207457381 + Nonsense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:207457381C>T ENST00000264377.3 + 22 2327 c.1999C>T c.(1999-2001)Cga>Tga p.R667* ADAM23_ENST00000374415.3_Nonsense_Mutation_p.R667*|ADAM23_ENST00000374416.1_Nonsense_Mutation_p.R667* NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 667 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) CAATCTTACTCGAGCTCCACG 0.403000 6 87 0 0 1 0 0 AQP4 361 broad.mit.edu 37 18 24436386 24436386 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr18:24436386G>A ENST00000383168.4 - 5 889 c.761C>T c.(760-762)cCa>cTa p.P254L AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.P232L|AQP4_ENST00000583022.1_5'UTR|AQP4_ENST00000581374.1_Missense_Mutation_p.P232L|AQP4-AS1_ENST00000579964.1_RNA NM_001650.4|NM_004028.3 NP_001641.1|NP_004019.1 P55087 AQP4_HUMAN aquaporin 4 254 cellular response to interferon-gamma|excretion|nervous system development cytoplasm|external side of plasma membrane|integral to plasma membrane water channel activity kidney(2)|large_intestine(3)|lung(5)|skin(1) 11 all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124) TTCAACATCTGGACAGAAGAC 0.458000 36 108 0 0 1 0 0 CD1D 912 broad.mit.edu 37 1 158152691 158152691 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:158152691C>T ENST00000368171.3 + 5 1130 c.631C>T c.(631-633)Cgt>Tgt p.R211C NM_001766.3 NP_001757.1 P15813 CD1D_HUMAN CD1d molecule 211 Ig-like. antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) CTGGCTGTCCCGTGGCCCCAG 0.567000 18 65 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28719811 28719811 + Missense_Mutation SNP A A C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr18:28719811A>C ENST00000257197.3 - 11 1824 c.1563T>G c.(1561-1563)aaT>aaG p.N521K RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.N521K NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 521 Cadherin 4. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) CAGTGTGTTGATTAATTTCAA 0.328000 3 35 0 0 1 0 0 GALNT12 79695 broad.mit.edu 37 9 101606467 101606467 + Silent SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr9:101606467C>G ENST00000375011.3 + 8 1434 c.1434C>G c.(1432-1434)ctC>ctG p.L478L NM_024642.4 NP_078918.3 Q8IXK2 GLT12_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) 478 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(62;0.0559) TTCTGTACCTCTGTCATGGGA 0.393000 14 24 0 0 1 0 0 DMTF1 9988 broad.mit.edu 37 7 86795817 86795817 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr7:86795817C>T ENST00000394703.5 + 6 691 c.128C>T c.(127-129)tCa>tTa p.S43L DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000394702.3_Missense_Mutation_p.S43L|DMTF1_ENST00000411766.2_Intron|DMTF1_ENST00000331242.7_Missense_Mutation_p.S43L|DMTF1_ENST00000432937.2_5'UTR|DMTF1_ENST00000413276.2_Missense_Mutation_p.S43L NM_021145.3 NP_066968.3 Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 43 Interaction with CCND2 (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1) 16 Esophageal squamous(14;0.0058) GAAATAGACTCAGAAGATAGT 0.343000 38 63 0 0 1 0 0 DLG3 1741 broad.mit.edu 37 X 69699075 69699075 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chrX:69699075G>A ENST00000194900.4 + 11 1876 c.1535G>A c.(1534-1536)gGg>gAg p.G512E DLG3_ENST00000542398.1_Missense_Mutation_p.G11E|DLG3_ENST00000374355.3_Missense_Mutation_p.G157E|DLG3_ENST00000374360.3_Missense_Mutation_p.G494E Q92796 DLG3_HUMAN discs, large homolog 3 (Drosophila) 494 SH3. axon guidance|negative regulation of cell proliferation|synaptic transmission plasma membrane guanylate kinase activity endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1) 22 Renal(35;0.156) TCTGGGTCTGGGTCCCTCCGA 0.488000 24 35 0 0 1 0 0 POLR3GL 84265 broad.mit.edu 37 1 145457096 145457096 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:145457096C>T ENST00000369314.1 - 7 571 c.465G>A c.(463-465)gaG>gaA p.E155E POLR3GL_ENST00000369313.3_Silent_p.E132E NM_032305.1 NP_115681.1 Q9BT43 RPC7L_HUMAN polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like 155 Glu-rich. endometrium(2)|large_intestine(1)|lung(1) 4 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTTCCTTCTTCTCCAGGGTCT 0.438000 17 22 0 0 1 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33096337 33096337 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr13:33096337C>T ENST00000267068.3 - 4 1619 c.1455G>A c.(1453-1455)atG>atA p.M485I N4BP2L2_ENST00000357505.6_Missense_Mutation_p.M41I|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.M485I|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.M56I|N4BP2L2_ENST00000504114.1_Missense_Mutation_p.M41I NM_014887.2 NP_055702.1 Q92802 N42L2_HUMAN NEDD4 binding protein 2-like 2 485 kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1) 16 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) CATATGGCTTCATTTCCCAAG 0.274000 10 99 0 0 1 0 0 SLC14A2 8170 broad.mit.edu 37 18 43249312 43249312 + Nonsense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr18:43249312G>A ENST00000255226.6 + 16 2894 c.2078G>A c.(2077-2079)tGg>tAg p.W693* SLC14A2_ENST00000589658.1_Nonsense_Mutation_p.W170*|SLC14A2_ENST00000586448.1_Nonsense_Mutation_p.W693* NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 693 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TTCAGCAAGTGGGACCTCCCA 0.552000 10 71 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74005315 74005315 + Missense_Mutation SNP G G T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr17:74005315G>T ENST00000301607.3 - 22 4224 c.3971C>A c.(3970-3972)cCg>cAg p.P1324Q EVPL_ENST00000586740.1_Missense_Mutation_p.P1346Q NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1324 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CTCCAGCACCGGGTCCTTCTC 0.692000 13 126 0.00244969 0.00247779 1 1 0 ACTB 60 broad.mit.edu 37 7 5568986 5568986 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr7:5568986C>T ENST00000331789.5 - 3 360 c.169G>A c.(169-171)Gag>Aag p.E57K NM_001101.3 NP_001092.1 P60709 ACTB_HUMAN actin, beta 57 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) CTCTGGGCCTCGTCGCCCACA 0.602000 11 45 0 0 1 0 0 TTF2 8458 broad.mit.edu 37 1 117634536 117634536 + Silent SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:117634536C>G ENST00000369466.4 + 17 2813 c.2769C>G c.(2767-2769)ctC>ctG p.L923L NM_003594.3 NP_003585.3 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase II mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 50 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) TGCTGAGACTCCGCCAGTGTT 0.532000 20 65 0 0 1 0 0 OAS3 4940 broad.mit.edu 37 12 113405839 113405839 + Missense_Mutation SNP G G T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr12:113405839G>T ENST00000228928.7 + 14 3143 c.2964G>T c.(2962-2964)caG>caT p.Q988H RP1-71H24.1_ENST00000552784.1_RNA NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 988 OAS domain 3. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 AGGACTCCCAGTTCAACATGG 0.592000 4 36 0.150653 0.150996 1 1 0 BTD 686 broad.mit.edu 37 3 15683504 15683504 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr3:15683504G>A ENST00000383778.4 + 3 697 c.339G>A c.(337-339)ccG>ccA p.P113P BTD_ENST00000482824.1_3'UTR|BTD_ENST00000437172.1_Silent_p.P135P|BTD_ENST00000449107.1_Silent_p.P135P|BTD_ENST00000303498.5_Silent_p.P133P NM_001281725.1 NP_001268654.1 P43251 BTD_HUMAN biotinidase 133 CN hydrolase. central nervous system development|epidermis development|nitrogen compound metabolic process extracellular space biotin carboxylase activity|biotinidase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 18 ACTTCATGCCGTCTCCCCAGG 0.458000 3 24 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74004162 74004162 + Silent SNP G G A rs141345812 TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr17:74004162G>A ENST00000301607.3 - 22 5377 c.5124C>T c.(5122-5124)atC>atT p.I1708I EVPL_ENST00000586740.1_Silent_p.I1730I NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1708 Globular 2. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GGCCCCTGTCGATGATGCCCC 0.622000 7 81 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23914933 23914933 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr13:23914933G>C ENST00000382298.3 - 10 3670 c.3082C>G c.(3082-3084)Cca>Gca p.P1028A SACS_ENST00000402364.1_Missense_Mutation_p.P278A|SACS_ENST00000382292.3_Missense_Mutation_p.P1028A NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1028 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AGCACATTTGGATTCTCATTT 0.343000 17 105 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22157300 22157300 + Missense_Mutation SNP A A G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:22157300A>G ENST00000397126.4 - 4 684 c.536T>C c.(535-537)gTc>gCc p.V179A ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) AAATGATCTGACGTATTCTTT 0.333000 6 51 0 0 1 0 0 CA6 765 broad.mit.edu 37 1 9018968 9018968 + Splice_Site SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:9018968G>A ENST00000377443.2 + 4 412 c.e4-1 CA6_ENST00000476083.1_Splice_Site|CA6_ENST00000377442.2_Splice_Site|CA6_ENST00000377436.3_Splice_Site NM_001215.3 NP_001206.2 P23280 CAH6_HUMAN carbonic anhydrase VI one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5) 16 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) TGCTCTTACAGATTCACATTG 0.448000 23 145 0 0 1 0 0 NUP153 9972 broad.mit.edu 37 6 17629422 17629422 + Missense_Mutation SNP G G T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr6:17629422G>T ENST00000262077.2 - 18 3007 c.3008C>A c.(3007-3009)tCt>tAt p.S1003Y NUP153_ENST00000537253.1_Missense_Mutation_p.S1034Y NM_005124.2 NP_005115.2 P49790 NU153_HUMAN nucleoporin 153kDa 1003 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) TCCAAGATTAGATACCCCAAA 0.378000 11 34 6.40141e-05 6.65807e-05 1 1 0 ZNF451 26036 broad.mit.edu 37 6 57013307 57013307 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr6:57013307C>T ENST00000370706.4 + 10 2668 c.2424C>T c.(2422-2424)ttC>ttT p.F808F RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000357489.3_Silent_p.F808F|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|ZNF451_ENST00000491832.2_Silent_p.F808F|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 808 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) AGCAGCATTTCCATAGAAAAC 0.428000 6 45 0 0 1 0 0 ZNF599 148103 broad.mit.edu 37 19 35250212 35250212 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:35250212C>G ENST00000329285.8 - 4 1867 c.1494G>C c.(1492-1494)atG>atC p.M498I NM_001007248.2 NP_001007249.1 Q96NL3 ZN599_HUMAN zinc finger protein 599 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) TGTGAATCCTCATGTGTCGAG 0.423000 28 95 0 0 1 0 0 VAT1L 57687 broad.mit.edu 37 16 77859162 77859162 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr16:77859162C>T ENST00000302536.2 + 3 536 c.383C>T c.(382-384)gCa>gTa p.A128V NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like 128 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 CGTGTCATGGCATTTGTCAAT 0.522000 31 46 0 0 1 0 0 GATA2 2624 broad.mit.edu 37 3 128204816 128204816 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr3:128204816C>G ENST00000341105.2 - 3 956 c.625G>C c.(625-627)Gac>Cac p.D209H GATA2_ENST00000487848.1_Missense_Mutation_p.D209H|GATA2_ENST00000430265.2_Missense_Mutation_p.D209H NM_032638.4 NP_116027.2 P23769 GATA2_HUMAN GATA binding protein 2 209 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1) 79 GBM - Glioblastoma multiforme(114;0.173) TTGACGCCGTCCTTGTCCTCT 0.627000 Mis AML(CML blast transformation) 7 16 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186697846 186697846 + Nonsense_Mutation SNP G G T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:186697846G>T ENST00000343098.5 + 23 20884 c.20884G>T c.(20884-20886)Gga>Tga p.G6962* FSIP2_ENST00000424728.1_Nonsense_Mutation_p.G6873* NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 CTCCAAACAAGGATCTAAAAT 0.383000 9 48 3.86212e-05 4.03601e-05 1 1 0 KDM7A 80853 broad.mit.edu 37 7 139829356 139829356 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr7:139829356C>G ENST00000397560.2 - 4 593 c.496G>C c.(496-498)Gat>Cat p.D166H JHDM1D_ENST00000006967.5_Missense_Mutation_p.D166H NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 166 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) CCTAGATCATCTAATTTTGGG 0.393000 29 50 0 0 1 0 0 AREL1 9870 broad.mit.edu 37 14 75142466 75142466 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr14:75142466G>C ENST00000356357.4 - 8 1531 c.1016C>G c.(1015-1017)tCt>tGt p.S339C AREL1_ENST00000557401.1_5'UTR NM_001039479.1 NP_001034568.1 apoptosis resistant E3 ubiquitin protein ligase 1 GTGGCACTCAGAGGGCGAGTC 0.547000 58 155 0 0 1 0 0 SLC6A8 6535 broad.mit.edu 37 X 152958604 152958604 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chrX:152958604G>C ENST00000253122.5 + 5 1362 c.886G>C c.(886-888)Gac>Cac p.D296H SLC6A8_ENST00000485324.1_3'UTR|SLC6A8_ENST00000430077.2_Missense_Mutation_p.D181H NM_001142805.1|NM_005629.3 NP_001136277.1|NP_005620.1 P48029 SC6A8_HUMAN solute carrier family 6 (neurotransmitter transporter), member 8 296 creatine metabolic process|muscle contraction integral to plasma membrane creatine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Creatine(DB00148) TCTCAAGCCTGACTGGTCAAA 0.642000 3 8 0 0 1 0 0 ECHDC1 55862 broad.mit.edu 37 6 127611178 127611178 + Nonsense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr6:127611178G>A ENST00000531967.1 - 6 1263 c.760C>T c.(760-762)Caa>Taa p.Q254* ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000309620.9_Nonsense_Mutation_p.Q231*|ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000454859.3_Nonsense_Mutation_p.Q248*|ECHDC1_ENST00000474289.2_Nonsense_Mutation_p.Q248*|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000430841.2_Nonsense_Mutation_p.Q248*|ECHDC1_ENST00000454591.2_Nonsense_Mutation_p.Q173* NM_001139510.1 NP_001132982.1 Q9NTX5 ECHD1_HUMAN enoyl CoA hydratase domain containing 1 254 catalytic activity large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 4 GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156) GGTGGCCCTTGGATGAATTGC 0.388000 14 86 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89402203 89402203 + Silent SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr15:89402203G>C ENST00000439576.2 + 12 6761 c.6387G>C c.(6385-6387)ctG>ctC p.L2129L ACAN_ENST00000561243.1_Silent_p.L2129L|ACAN_ENST00000559004.1_Silent_p.L2129L|ACAN_ENST00000352105.7_Silent_p.L2129L NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2129 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CCCCTGATCTGAGTGAAACCA 0.572000 9 42 0 0 1 0 0 SP100 6672 broad.mit.edu 37 2 231359153 231359153 + Silent SNP T T C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:231359153T>C ENST00000264052.5 + 18 1978 c.1623T>C c.(1621-1623)tcT>tcC p.S541S SP100_ENST00000409112.1_Silent_p.S541S|SP100_ENST00000340126.4_Silent_p.S541S NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 541 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GGCATAGATCTAAAGTAAATG 0.368000 13 41 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24593407 24593407 + Nonsense_Mutation SNP C C A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr5:24593407C>A ENST00000264463.4 - 2 700 c.193G>T c.(193-195)Gaa>Taa p.E65* RP11-116O11.1_ENST00000510391.1_RNA NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 65 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GTATATTCTTCAAGTAAGAAA 0.353000 HNSCC(23;0.051) 34 59 2.09667e-21 2.32904e-21 1 1 0 NLRP10 338322 broad.mit.edu 37 11 7982292 7982292 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr11:7982292G>A ENST00000328600.2 - 2 1028 c.867C>T c.(865-867)ctC>ctT p.L289L NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 289 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GGGTGGTGATGAGAAGGGAGC 0.542000 11 73 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1267770 1267770 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr11:1267770C>T ENST00000447027.1 + 31 9727 c.9669C>T c.(9667-9669)acC>acT p.T3223T RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T3220T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3220 17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GGACTGCAACCGCCCTTCCAG 0.637000 5 109 0 0 1 0 0 MDK 4192 broad.mit.edu 37 11 46403917 46403917 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr11:46403917G>C ENST00000405308.2 + 3 579 c.150G>C c.(148-150)aaG>aaC p.K50N MDK_ENST00000407067.1_Missense_Mutation_p.K50N|MDK_ENST00000395569.4_Intron|MDK_ENST00000395565.1_Missense_Mutation_p.K50N|MDK_ENST00000395566.4_Missense_Mutation_p.K50N|MDK_ENST00000359803.3_Missense_Mutation_p.K50N|MDK_ENST00000533283.1_3'UTR NM_001270550.1 NP_001257479.1 P21741 MK_HUMAN midkine (neurite growth-promoting factor 2) 50 adrenal gland development|cell differentiation|nervous system development|positive regulation of cell division|response to wounding|signal transduction extracellular region growth factor activity|heparin binding lung(1) 1 GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14) CCAGCAGCAAGGATTGCGGCG 0.667000 4 7 0 0 1 0 0 ANKRD55 79722 broad.mit.edu 37 5 55396109 55396109 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr5:55396109C>T ENST00000341048.4 - 12 1897 c.1746G>A c.(1744-1746)cgG>cgA p.R582R ANKRD55_ENST00000434982.2_Silent_p.R294R|ANKRD55_ENST00000504958.2_Silent_p.R539R NM_024669.2 NP_078945.2 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 581 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) CTCGGTTTGTCCGCAGAGGTT 0.453000 12 65 0 0 1 0 0 TTC16 158248 broad.mit.edu 37 9 130488527 130488527 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr9:130488527G>A ENST00000373289.3 + 10 1349 c.1269G>A c.(1267-1269)caG>caA p.Q423Q TTC16_ENST00000489226.1_3'UTR|TTC16_ENST00000393748.4_3'UTR NM_144965.1 NP_659402.1 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 423 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 GGCAGTTCCAGAAGGCAGAGA 0.597000 19 24 0 0 1 0 0 LCMT2 9836 broad.mit.edu 37 15 43621006 43621006 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr15:43621006G>A ENST00000305641.5 - 1 1797 c.1682C>T c.(1681-1683)tCt>tTt p.S561F LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_Missense_Mutation_p.S140F NM_014793.4 NP_055608.2 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 561 tRNA processing methyltransferase activity|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1) 20 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) AAAGAGCACAGAGTTCAATGG 0.552000 16 35 0 0 1 0 0 SCAF8 22828 broad.mit.edu 37 6 155145420 155145420 + Missense_Mutation SNP C C A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr6:155145420C>A ENST00000367178.3 + 17 2555 c.1979C>A c.(1978-1980)cCt>cAt p.P660H SCAF8_ENST00000417268.1_Missense_Mutation_p.P660H|SCAF8_ENST00000367186.4_Missense_Mutation_p.P726H NM_014892.3 NP_055707.3 Q9UPN6 SCAF8_HUMAN SR-related CTD-associated factor 8 660 Pro-rich. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46 CCAGCATTTCCTGTGTCGATG 0.473000 4 103 0.184627 0.184627 1 1 0 CDH4 1002 broad.mit.edu 37 20 60509192 60509192 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr20:60509192G>A ENST00000360469.5 + 15 2546 c.2458G>A c.(2458-2460)Gat>Aat p.D820N CDH4_ENST00000543233.1_Missense_Mutation_p.D746N NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 820 adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GCGTCGCGTGGATGAGCGGCC 0.677000 5 43 0 0 1 0 0 ACOT11 26027 broad.mit.edu 37 1 55066961 55066961 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:55066961G>A ENST00000371316.3 + 9 986 c.904G>A c.(904-906)Gtg>Atg p.V302M ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.V302M NM_015547.3 NP_056362.1 Q8WXI4 ACO11_HUMAN acyl-CoA thioesterase 11 302 Acyl coenzyme A hydrolase 2. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1) 17 GGGCGTGTGCGTGGAGGCCTA 0.612000 6 35 0 0 1 0 0 TMEM132E 124842 broad.mit.edu 37 17 32964376 32964376 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr17:32964376C>T ENST00000321639.5 + 10 2408 c.2080C>T c.(2080-2082)Cgc>Tgc p.R694C NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 694 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) GGAGCTGCTTCGCGCAGAGCT 0.632000 32 61 0 0 1 0 0 CDCP1 64866 broad.mit.edu 37 3 45153729 45153729 + Silent SNP G G T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr3:45153729G>T ENST00000296129.1 - 3 635 c.501C>A c.(499-501)atC>atA p.I167I CDCP1_ENST00000425231.2_Silent_p.I167I NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 167 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) CGGTGGCATCGATTCGGCCGC 0.572000 8 64 0.00448238 0.00451308 1 1 0 OR5A1 219982 broad.mit.edu 37 11 59210659 59210659 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr11:59210659C>T ENST00000302030.2 + 1 43 c.18C>T c.(16-18)gcC>gcT p.A6A NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 6 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 TAACCAAAGCCTGGAACAGCT 0.478000 3 43 0 0 1 0 0 RAD50 10111 broad.mit.edu 37 5 131923272 131923272 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr5:131923272G>C ENST00000378823.3 + 6 1176 c.358G>C c.(358-360)Gaa>Caa p.E120Q RAD50_ENST00000265335.6_Missense_Mutation_p.E259Q|RAD50_ENST00000487596.1_3'UTR NM_005732.3 NP_005723.2 Q92878 RAD50_HUMAN RAD50 homolog (S. cerevisiae) 259 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AAAAGAAATTGAACATAATCT 0.313000 Homologous recombination 5 37 0 0 1 0 0 OR6C1 390321 broad.mit.edu 37 12 55714585 55714585 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr12:55714585G>C ENST00000379668.2 + 1 240 c.202G>C c.(202-204)Gaa>Caa p.E68Q NM_001005182.1 NP_001005182.1 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, member 1 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 CTCCATATTAGAAATTTCGTT 0.393000 7 40 0 0 1 0 0 IL15 3600 broad.mit.edu 37 4 142641635 142641635 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr4:142641635G>A ENST00000296545.7 + 4 870 c.26G>A c.(25-27)aGa>aAa p.R9K IL15_ENST00000529613.1_Missense_Mutation_p.R9K|IL15_ENST00000514653.1_5'UTR|IL15_ENST00000477265.1_5'UTR|IL15_ENST00000320650.4_Missense_Mutation_p.R9K P40933 IL15_HUMAN interleukin 15 9 cell-cell signaling|immune response|positive regulation of interleukin-17 production endosome|extracellular space|Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus cytokine activity|cytokine receptor binding|signal transducer activity kidney(1)|large_intestine(1)|lung(2)|stomach(1) 5 all_hematologic(180;0.158) CCACATTTGAGAAGTATTTCC 0.289000 5 27 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27687759 27687759 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr10:27687759C>T ENST00000438700.3 - 4 1885 c.1768G>A c.(1768-1770)Gac>Aac p.D590N NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 590 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 CCAAAATAGTCTCTAAAAAAC 0.368000 21 42 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65156379 65156379 + Silent SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr17:65156379G>C ENST00000358691.5 - 17 2341 c.2175C>G c.(2173-2175)ctC>ctG p.L725L HELZ_ENST00000580168.1_Silent_p.L726L NM_014877.3 NP_055692 helicase with zinc finger p.L725L(1) NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) AAAAATACCTGAGAGGTCTTG 0.338000 20 67 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50212446 50212446 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr15:50212446C>G ENST00000284509.6 - 18 2061 c.1920G>C c.(1918-1920)ttG>ttC p.L640F ATP8B4_ENST00000559829.1_Missense_Mutation_p.L640F NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 640 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CTCATACCATCAAATCTCTTT 0.388000 7 44 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4683851 4683851 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr3:4683851G>A ENST00000302640.8 + 7 791 c.441G>A c.(439-441)atG>atA p.M147I ITPR1_ENST00000443694.2_Missense_Mutation_p.M147I|ITPR1_ENST00000354582.6_Missense_Mutation_p.M147I|ITPR1_ENST00000423119.2_Missense_Mutation_p.M147I|ITPR1_ENST00000544951.1_Missense_Mutation_p.M147I|ITPR1_ENST00000456211.2_Missense_Mutation_p.M147I|ITPR1_ENST00000357086.4_Missense_Mutation_p.M147I NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 147 MIR 1. activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) AGAATGCCATGAGAGTCACAT 0.433000 9 46 0 0 1 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2408402 2408402 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:2408402C>T ENST00000332578.3 + 7 789 c.789C>T c.(787-789)ctC>ctT p.L263L NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 263 Peptidase S1 1. proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGACCTACCTCAGCGGCTCGG 0.667000 11 30 0 0 1 0 0 KDM7A 80853 broad.mit.edu 37 7 139791700 139791700 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr7:139791700C>T ENST00000397560.2 - 19 2732 c.2635G>A c.(2635-2637)Gaa>Aaa p.E879K NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 879 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) ACTGGCCTTTCTGGGCTTAGA 0.512000 7 39 0 0 1 0 0 TOM1L2 146691 broad.mit.edu 37 17 17766066 17766066 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr17:17766066G>C ENST00000581396.1 - 10 1127 c.1031C>G c.(1030-1032)tCc>tGc p.S344C TOM1L2_ENST00000542206.1_Missense_Mutation_p.S246C|TOM1L2_ENST00000318094.10_Missense_Mutation_p.S349C|TOM1L2_ENST00000395739.4_Missense_Mutation_p.S349C|TOM1L2_ENST00000540946.1_Missense_Mutation_p.S296C|TOM1L2_ENST00000535933.1_Missense_Mutation_p.S341C|TOM1L2_ENST00000379504.3_Missense_Mutation_p.S394C|TOM1L2_ENST00000478943.1_Missense_Mutation_p.S127C NM_001033551.2 NP_001028723.1 Q6ZVM7 TM1L2_HUMAN target of myb1-like 2 (chicken) 394 intracellular protein transport intracellular endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2) 10 all_neural(463;0.228) CTCAGCCAAGGAGTTTCCTCT 0.542000 19 109 0 0 1 0 0 TTC18 118491 broad.mit.edu 37 10 75104990 75104990 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr10:75104990C>T ENST00000401621.2 - 6 562 c.442G>A c.(442-444)Gaa>Aaa p.E148K TTC18_ENST00000340329.3_Missense_Mutation_p.E148K|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000310715.3_Missense_Mutation_p.E148K|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.E148K Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 148 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) ACTTTAACTTCAAGACTGCAC 0.408000 6 40 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13087568 13087568 + Silent SNP C C A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr18:13087568C>A ENST00000506447.1 + 32 5996 c.5916C>A c.(5914-5916)atC>atA p.I1972I CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Silent_p.I1376I|CEP192_ENST00000430049.2_Silent_p.I1497I NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1567 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 ACAGAGGAATCAATAATAAAA 0.284000 20 56 2.32416e-17 2.56881e-17 1 1 0 TMEM181 57583 broad.mit.edu 37 6 159049443 159049443 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr6:159049443C>T ENST00000367090.3 + 14 1535 c.1524C>T c.(1522-1524)atC>atT p.I508I NM_020823.1 NP_065874.1 Q9P2C4 TM181_HUMAN transmembrane protein 181 508 pathogenesis integral to membrane toxin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1) 22 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05) TGTTCAGCATCGCCATCCTTT 0.438000 10 75 0 0 1 0 0 SULT1A2 6799 broad.mit.edu 37 16 28604836 28604836 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr16:28604836G>A ENST00000395630.1 - 5 776 c.426C>T c.(424-426)ttC>ttT p.F142F SULT1A2_ENST00000533150.1_Intron|SULT1A2_ENST00000335715.4_Silent_p.F142F NM_177528.2 NP_803564 P50226 ST1A2_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 142 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2) 14 CCATGTGGTAGAAGTGGTAGT 0.567000 19 27 0 0 1 0 0 NUTM1 256646 broad.mit.edu 37 15 34642915 34642915 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr15:34642915C>T ENST00000537011.1 + 4 1202 c.820C>T c.(820-822)Cgt>Tgt p.R274C NUTM1_ENST00000333756.4_Missense_Mutation_p.R246C|NUTM1_ENST00000438749.3_Missense_Mutation_p.R264C NM_001284292.1 NP_001271221.1 NUT midline carcinoma, family member 1 CCCAGTGCTTCGTTCCCTGGC 0.557000 7 18 0 0 1 0 0 C16orf71 146562 broad.mit.edu 37 16 4790537 4790537 + Silent SNP C C T rs148210585 TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr16:4790537C>T ENST00000299320.5 + 4 1138 c.660C>T c.(658-660)tgC>tgT p.C220C C16orf71_ENST00000590191.1_Silent_p.C234C|RP11-127I20.7_ENST00000588099.1_RNA NM_139170.2 NP_631909.2 Q8IYS4 CP071_HUMAN chromosome 16 open reading frame 71 220 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1) 11 GGGATGCCTGCGGCCCGACCA 0.627000 5 15 0 0 1 0 0 TRIM9 114088 broad.mit.edu 37 14 51446213 51446213 + Silent SNP A A G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr14:51446213A>G ENST00000298355.3 - 9 3083 c.1962T>C c.(1960-1962)aaT>aaC p.N654N TRIM9_ENST00000338969.5_Silent_p.N735N NM_015163.5 NP_055978.4 Q9C026 TRIM9_HUMAN tripartite motif containing 9 654 B30.2/SPRY. proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) AGTTTTTTCTATTTAAGTCGA 0.453000 34 187 0 0 1 0 0 CD1B 910 broad.mit.edu 37 1 158299224 158299224 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:158299224C>T ENST00000368168.3 - 4 929 c.822G>A c.(820-822)gcG>gcA p.A274A NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 274 Ig-like. antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) ACAGGCCAGCCGCCTCCCCAT 0.582000 12 62 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21082115 21082115 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr22:21082115G>A ENST00000255882.6 - 40 4806 c.4720C>T c.(4720-4722)Cgt>Tgt p.R1574C PI4KA_ENST00000414196.3_Missense_Mutation_p.R326C|PI4KA_ENST00000572273.1_Missense_Mutation_p.R1516C NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1516 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CGAACGAGACGGGTCACTTCG 0.547000 5 42 0 0 1 0 0 DCTN2 10540 broad.mit.edu 37 12 57927773 57927773 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr12:57927773G>A ENST00000548249.1 - 7 899 c.632C>T c.(631-633)tCt>tTt p.S211F DCTN2_ENST00000434715.3_Missense_Mutation_p.S216F|DCTN2_ENST00000543672.1_Missense_Mutation_p.S216F|DCTN2_ENST00000537439.1_Missense_Mutation_p.S188F NM_001261412.1|NM_001261413.1 NP_001248341.1|NP_001248342.1 Q13561 DCTN2_HUMAN dynactin 2 (p50) 211 cell proliferation|G2/M transition of mitotic cell cycle|mitosis centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle motor activity|protein binding endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2) 11 CTCAGGCCGAGAATGTAGTTC 0.512000 12 54 0 0 1 0 0 SLC13A1 6561 broad.mit.edu 37 7 122759236 122759236 + Missense_Mutation SNP A A G rs144153896 TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr7:122759236A>G ENST00000194130.2 - 13 1450 c.1411T>C c.(1411-1413)Tgg>Cgg p.W471R SLC13A1_ENST00000539873.1_3'UTR NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 471 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) ATTATTAGCCATGCTGGTAAT 0.343000 5 67 0 0 1 0 0 SUZ12 23512 broad.mit.edu 37 17 30322735 30322735 + Missense_Mutation SNP G G T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr17:30322735G>T ENST00000322652.5 + 14 1977 c.1748G>T c.(1747-1749)aGt>aTt p.S583I SUZ12_ENST00000580398.1_Missense_Mutation_p.S560I NM_015355.2 NP_056170.2 Q15022 SUZ12_HUMAN SUZ12 polycomb repressive complex 2 subunit 583 VEFS-box. negative regulation of cell differentiation|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|methylated histone residue binding|zinc ion binding SSH2/SUZ12(2)|JAZF1/SUZ12(133) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1) 21 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231) GAAGTAGATAGTGAAGATGAA 0.338000 T JAZF1 endometrial stromal tumours 7 40 2.0095e-06 2.12007e-06 1 1 0 EHBP1 23301 broad.mit.edu 37 2 63176135 63176135 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:63176135C>G ENST00000263991.5 + 14 2741 c.2259C>G c.(2257-2259)atC>atG p.I753M EHBP1_ENST00000354487.3_Missense_Mutation_p.I718M|EHBP1_ENST00000405289.1_Missense_Mutation_p.I718M|EHBP1_ENST00000431489.1_Missense_Mutation_p.I718M|EHBP1_ENST00000405015.3_Missense_Mutation_p.I718M NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 753 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) AATCTCCTATCAAAAAAACAA 0.368000 5 38 0 0 1 0 0 KCNV1 27012 broad.mit.edu 37 8 110980770 110980770 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr8:110980770G>A ENST00000524391.1 - 4 2082 c.1050C>T c.(1048-1050)ctC>ctT p.L350L KCNV1_ENST00000297404.1_Silent_p.L350L Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 350 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) ATAGAAATAGGAGCAGTAGGC 0.458000 10 65 0 0 1 0 0 CINP 51550 broad.mit.edu 37 14 102816325 102816325 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr14:102816325C>T ENST00000216756.6 - 4 407 c.367G>A c.(367-369)Gaa>Aaa p.E123K CINP_ENST00000541568.2_Intron|CINP_ENST00000536961.2_Missense_Mutation_p.E138K NM_032630.2 NP_116019.1 Q9BW66 CINP_HUMAN cyclin-dependent kinase 2 interacting protein 123 cell cycle|cell division|DNA repair|DNA replication nucleus protein binding large_intestine(2)|lung(2) 4 TGGTAGTTTTCTAGTTCACAA 0.388000 11 38 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7527290 7527290 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr12:7527290G>A ENST00000313599.3 - 13 3214 c.3157C>T c.(3157-3159)Cac>Tac p.H1053Y CD163L1_ENST00000396630.1_Missense_Mutation_p.H1053Y|CD163L1_ENST00000416109.2_Missense_Mutation_p.H1063Y Q9NR16 C163B_HUMAN CD163 molecule-like 1 1053 SRCR 10. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 AAGCCGTCGTGATAGATCTCT 0.562000 OREG0021653 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 26 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71801430 71801430 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:71801430C>T ENST00000258104.3 + 30 3554 c.3277C>T c.(3277-3279)Cgc>Tgc p.R1093C DYSF_ENST00000413539.2_Missense_Mutation_p.R1124C|DYSF_ENST00000409366.1_Missense_Mutation_p.R1094C|DYSF_ENST00000410020.3_Missense_Mutation_p.R1111C|DYSF_ENST00000409651.1_Missense_Mutation_p.R1125C|DYSF_ENST00000409744.1_Missense_Mutation_p.R1080C|DYSF_ENST00000394120.2_Missense_Mutation_p.R1094C|DYSF_ENST00000410041.1_Missense_Mutation_p.R1111C|DYSF_ENST00000409582.3_Missense_Mutation_p.R1110C|DYSF_ENST00000409762.1_Missense_Mutation_p.R1110C|DYSF_ENST00000429174.2_Missense_Mutation_p.R1093C NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1093 Arg-rich. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CCGCCGCCGCCGCTGGCGCCG 0.662000 10 96 0 0 1 0 0 DAK 26007 broad.mit.edu 37 11 61113951 61113951 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr11:61113951C>T ENST00000394900.3 + 18 1933 c.1704C>T c.(1702-1704)gcC>gcT p.A568A NM_015533.3 NP_056348.2 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 homolog (S. cerevisiae) 568 DhaL. glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 23 TCCTCCGGGCCATCTTGGAGG 0.607000 6 121 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61834311 61834311 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr10:61834311C>T ENST00000280772.2 - 37 6519 c.6328G>A c.(6328-6330)Gag>Aag p.E2110K ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TCAGGAGACTCTAAAATAGTA 0.418000 7 49 0 0 1 0 0 BABAM1 29086 broad.mit.edu 37 19 17379628 17379628 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:17379628G>C ENST00000359435.4 + 2 206 c.13G>C c.(13-15)Gag>Cag p.E5Q BABAM1_ENST00000601043.1_Missense_Mutation_p.E5Q|BABAM1_ENST00000448635.2_3'UTR|BABAM1_ENST00000598188.1_Missense_Mutation_p.E5Q|CTD-2278I10.6_ENST00000596542.1_5'UTR|BABAM1_ENST00000447614.2_Missense_Mutation_p.E5Q|BABAM1_ENST00000595632.1_Missense_Mutation_p.E5Q NM_001033549.1 NP_001028721.1 Q9NWV8 BABA1_HUMAN BRISC and BRCA1 A complex member 1 5 chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation BRCA1-A complex|BRISC complex|cytoplasm protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 GGAAGTGGCAGAGCCCAGCAG 0.607000 6 6 0 0 1 0 0 TOLLIP 54472 broad.mit.edu 37 11 1311560 1311560 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr11:1311560G>A ENST00000527886.1 - 3 436 c.56C>T c.(55-57)aCg>aTg p.T19M TOLLIP_ENST00000525159.1_Intron|TOLLIP_ENST00000528719.1_5'UTR|TOLLIP_ENST00000317204.6_Missense_Mutation_p.T88M|TOLLIP_ENST00000263646.7_Missense_Mutation_p.T60M|TOLLIP_ENST00000542915.1_Missense_Mutation_p.T38M|TOLLIP_ENST00000527938.1_Intron Q9H0E2 TOLIP_HUMAN toll interacting protein 88 cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex kinase binding|signal transducer activity|Toll-like receptor binding large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 6 all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107) TGCCGTGGGCGTCTCGTACAC 0.582000 4 21 0 0 1 0 0 IRF2 3660 broad.mit.edu 37 4 185329364 185329364 + Silent SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr4:185329364C>G ENST00000393593.3 - 6 684 c.477G>C c.(475-477)gcG>gcC p.A159A IRF2_ENST00000512020.1_5'UTR NM_002199.3 NP_002190.2 P14316 IRF2_HUMAN interferon regulatory factor 2 159 blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 22 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) AAGTCAGGACCGCATACTCAG 0.398000 23 66 0 0 1 0 0 UGT1A6 54578 broad.mit.edu 37 2 234601975 234601975 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:234601975C>G ENST00000305139.6 + 1 464 c.325C>G c.(325-327)Cag>Gag p.Q109E UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000373424.1_Intron NM_001072.3 NP_001063.2 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) AACTGCTCCTCAGACAGAGTA 0.448000 7 29 0 0 1 0 0 HMG20A 10363 broad.mit.edu 37 15 77756718 77756718 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr15:77756718C>G ENST00000381714.3 + 4 654 c.226C>G c.(226-228)Cat>Gat p.H76D HMG20A_ENST00000336216.4_Missense_Mutation_p.H76D NM_018200.2 NP_060670.1 Q9NP66 HM20A_HUMAN high mobility group 20A 76 chromatin modification nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 TGAACAGAGGCATGAAGATGA 0.438000 6 32 0 0 1 0 0 MAEL 84944 broad.mit.edu 37 1 166961925 166961925 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:166961925C>G ENST00000367872.4 + 4 572 c.328C>G c.(328-330)Ctc>Gtc p.L110V MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.L79V NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 110 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 TTTTTTAGCTCTCCTTGGAGG 0.348000 10 30 0 0 1 0 0 SLC10A4 201780 broad.mit.edu 37 4 48486166 48486166 + Silent SNP C C A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr4:48486166C>A ENST00000273861.4 + 1 807 c.588C>A c.(586-588)ctC>ctA p.L196L NM_152679.3 NP_689892.1 Q96EP9 NTCP4_HUMAN solute carrier family 10, member 4 196 integral to membrane bile acid:sodium symporter activity central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 6 ACATGAACCTCAGGTACGGAT 0.612000 5 44 0.000602214 0.000613341 1 1 0 PLXNA4 91584 broad.mit.edu 37 7 132192499 132192499 + Silent SNP C C A rs142028036 byFrequency TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr7:132192499C>A ENST00000359827.3 - 2 1916 c.954G>T c.(952-954)gcG>gcT p.A318A PLXNA4_ENST00000423507.2_Silent_p.A318A|PLXNA4_ENST00000378539.5_Silent_p.A318A|PLXNA4_ENST00000321063.4_Silent_p.A318A Q9HCM2 PLXA4_HUMAN plexin A4 318 Sema. integral to membrane|intracellular|plasma membrane p.A318A(4) NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GCACGGCCCCCGCTTTGGACA 0.587000 19 30 5.35267e-07 5.71556e-07 1 1 0 XYLT2 64132 broad.mit.edu 37 17 48434547 48434547 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr17:48434547G>A ENST00000017003.2 + 9 1924 c.1875G>A c.(1873-1875)ctG>ctA p.L625L XYLT2_ENST00000507602.1_Silent_p.L625L NM_022167.2 NP_071450.2 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 625 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity p.L625L(1) endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1) 12 Breast(11;7.18e-19) AGATGTGGCTGATGCCCCAAG 0.632000 9 12 0 0 1 0 0 PHTF2 57157 broad.mit.edu 37 7 77569961 77569961 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr7:77569961C>T ENST00000416283.2 + 13 1881 c.1755C>T c.(1753-1755)ctC>ctT p.L585L PHTF2_ENST00000275575.7_Silent_p.L581L|PHTF2_ENST00000248550.7_Silent_p.L619L|PHTF2_ENST00000422959.2_Silent_p.L585L|PHTF2_ENST00000307305.8_Silent_p.L581L NM_001127357.1|NM_020432.4 NP_001120829.1|NP_065165.3 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 619 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 GGCTATCTCTCCGTTCCTATC 0.373000 21 78 0 0 1 0 0 ZNF488 118738 broad.mit.edu 37 10 48371532 48371532 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr10:48371532C>T ENST00000395702.2 + 2 1227 c.1000C>T c.(1000-1002)Cgg>Tgg p.R334W ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Missense_Mutation_p.R227W Q96MN9 ZN488_HUMAN zinc finger protein 488 334 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 CCACCTCTCCCGGCACATGAC 0.652000 6 62 0 0 1 0 0 MYO10 4651 broad.mit.edu 37 5 16671022 16671022 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr5:16671022G>A ENST00000513610.1 - 39 5950 c.5496C>T c.(5494-5496)gcC>gcT p.A1832A MYO10_ENST00000515803.1_Silent_p.A1171A|MYO10_ENST00000505695.1_Silent_p.A1171A|MYO10_ENST00000274203.9_Silent_p.A1189A|MYO10_ENST00000427430.2_Silent_p.A1189A NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1832 FERM. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 GGAGTCGCAGGGCAGCAAGAA 0.572000 5 35 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62862019 62862019 + Nonsense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr4:62862019C>T ENST00000512091.2 + 19 3790 c.3043C>T c.(3043-3045)Cga>Tga p.R1015* LPHN3_ENST00000545650.1_Nonsense_Mutation_p.R1015*|LPHN3_ENST00000507625.1_Nonsense_Mutation_p.R1083*|LPHN3_ENST00000514591.1_Nonsense_Mutation_p.R1015*|LPHN3_ENST00000508946.1_Nonsense_Mutation_p.R1015*|LPHN3_ENST00000514157.1_Nonsense_Mutation_p.R1015*|LPHN3_ENST00000506700.1_Nonsense_Mutation_p.R1015*|LPHN3_ENST00000504896.1_Nonsense_Mutation_p.R1015*|LPHN3_ENST00000511324.1_Nonsense_Mutation_p.R1083*|LPHN3_ENST00000508693.1_Nonsense_Mutation_p.R1083*|LPHN3_ENST00000506720.1_Nonsense_Mutation_p.R1083*|LPHN3_ENST00000507164.1_Nonsense_Mutation_p.R1083*|LPHN3_ENST00000509896.1_Nonsense_Mutation_p.R1083*|LPHN3_ENST00000514996.1_Nonsense_Mutation_p.R1015*|LPHN3_ENST00000506746.1_Nonsense_Mutation_p.R1083* Q9HAR2 LPHN3_HUMAN latrophilin 3 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 ATGTTGGCTCCGACTTGACAC 0.403000 18 74 0 0 1 0 0 ACSBG2 81616 broad.mit.edu 37 19 6182786 6182786 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:6182786G>A ENST00000588304.1 + 9 1227 c.781G>A c.(781-783)Gag>Aag p.E261K ACSBG2_ENST00000591403.1_Missense_Mutation_p.E311K|ACSBG2_ENST00000588485.1_Missense_Mutation_p.E124K|ACSBG2_ENST00000586696.1_Missense_Mutation_p.E311K|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000252669.5_Missense_Mutation_p.E311K Q5FVE4 ACBG2_HUMAN acyl-CoA synthetase bubblegum family member 2 311 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TACTCTAAAGGAGGTAAAACC 0.483000 4 18 0 0 1 0 0 P2RY4 5030 broad.mit.edu 37 X 69478964 69478964 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chrX:69478964G>A ENST00000374519.2 - 1 690 c.511C>T c.(511-513)Ctg>Ttg p.L171L NM_002565.3 NP_002556.1 P51582 P2RY4_HUMAN pyrimidinergic receptor P2Y, G-protein coupled, 4 171 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled cervix(2)|endometrium(2)|large_intestine(8)|lung(6) 18 ACAAAGAACAGGTTGGGCACG 0.617000 4 9 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56362262 56362262 + Missense_Mutation SNP A A C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr6:56362262A>C ENST00000370754.5 - 82 20044 c.20045T>G c.(20044-20046)cTg>cGg p.L6682R DST_ENST00000446842.2_Missense_Mutation_p.L6178R|DST_ENST00000340834.4_5'UTR|DST_ENST00000361203.3_Missense_Mutation_p.L6393R|DST_ENST00000421834.2_Missense_Mutation_p.L4416R|DST_ENST00000370788.2_Missense_Mutation_p.L4307R|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.L6504R|DST_ENST00000244364.6_Missense_Mutation_p.L4090R Q03001 DYST_HUMAN dystonin 6502 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CGTGTCAGTCAGCCACTGCTG 0.473000 3 29 0 0 1 0 0 CCSAP 126731 broad.mit.edu 37 1 229478092 229478092 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:229478092C>G ENST00000284617.2 - 2 245 c.121G>C c.(121-123)Gag>Cag p.E41Q CCSAP_ENST00000483092.1_5'UTR|CCSAP_ENST00000366687.1_Missense_Mutation_p.E41Q|CCSAP_ENST00000452552.1_Missense_Mutation_p.E41Q NM_145257.3 NP_660300.3 centriole, cilia and spindle-associated protein TGCGCCTGCTCCAGCAGCCGG 0.736000 3 7 0 0 1 0 0 PLCD1 5333 broad.mit.edu 37 3 38049632 38049632 + Silent SNP C C G rs148090621 TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr3:38049632C>G ENST00000463876.1 - 14 2474 c.2121G>C c.(2119-2121)acG>acC p.T707T PLCD1_ENST00000334661.4_Silent_p.T686T NM_001130964.1 NP_001124436.1 P51178 PLCD1_HUMAN phospholipase C, delta 1 686 C2. intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) ACGCAAACTCCGTGTCCCACC 0.542000 9 45 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48451412 48451412 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr3:48451412C>T ENST00000358536.4 - 32 5949 c.5680G>A c.(5680-5682)Gag>Aag p.E1894K PLXNB1_ENST00000456774.1_Missense_Mutation_p.E1711K|PLXNB1_ENST00000296440.6_Missense_Mutation_p.E1894K|PLXNB1_ENST00000358459.4_Missense_Mutation_p.E1711K|PLXNB1_ENST00000448774.2_Missense_Mutation_p.E505K NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1894 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CTGGGCGGCTCCGGCTCATCA 0.667000 3 24 0 0 1 0 0 GAS2L2 246176 broad.mit.edu 37 17 34072289 34072289 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr17:34072289G>A ENST00000254466.6 - 6 2254 c.2227C>T c.(2227-2229)Ccc>Tcc p.P743S GAS2L2_ENST00000587565.1_Missense_Mutation_p.P727S NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 743 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GGGTCCAAGGGCGAAGGTGTG 0.617000 7 131 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 28897008 28897008 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr13:28897008C>G ENST00000282397.4 - 21 3123 c.2872G>C c.(2872-2874)Gat>Cat p.D958H FLT1_ENST00000540678.1_Missense_Mutation_p.D176H NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 958 Protein kinase. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GTGACGCTATCTAGTCTTGGT 0.478000 4 130 0 0 1 0 0 FAM175B 23172 broad.mit.edu 37 10 126518032 126518032 + Nonsense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr10:126518032C>T ENST00000298492.5 + 7 694 c.649C>T c.(649-651)Cag>Tag p.Q217* NM_032182.3 NP_115558.3 Q15018 F175B_HUMAN family with sequence similarity 175, member B 217 BRISC complex polyubiquitin binding NS(1) 1 TAATGCACTTCAGGAGAAAGT 0.333000 3 36 0 0 1 0 0 MUT 4594 broad.mit.edu 37 6 49412449 49412449 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr6:49412449G>C ENST00000274813.3 - 9 1706 c.1579C>G c.(1579-1581)Caa>Gaa p.Q527E NM_000255.3 NP_000246.2 P22033 MUTA_HUMAN methylmalonyl CoA mutase 527 fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 30 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GCCAAAGCTTGATCCCTGCTG 0.453000 30 108 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 98039502 98039502 + Missense_Mutation SNP A A T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:98039502A>T ENST00000370192.3 - 11 1253 c.1153T>A c.(1153-1155)Tgt>Agt p.C385S NM_000110.3 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 385 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) AGAAATTCACACTTTTCTTCC 0.363000 3 44 0 0 1 0 0 MB 4151 broad.mit.edu 37 22 36003364 36003364 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr22:36003364C>T ENST00000397326.2 - 3 643 c.445G>A c.(445-447)Gag>Aag p.E149K MB_ENST00000359787.1_Missense_Mutation_p.E149K|MB_ENST00000401702.1_Missense_Mutation_p.E94K|MB_ENST00000406324.1_Missense_Mutation_p.E149K|MB_ENST00000397328.1_Missense_Mutation_p.E149K NM_005368.2 NP_005359.1 P02144 MYG_HUMAN myoglobin 149 heme binding|oxygen transporter activity lung(1) 1 AAGCCCAGCTCCTTGTAGTTG 0.627000 15 28 0 0 1 0 0 PLEK 5341 broad.mit.edu 37 2 68613716 68613716 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:68613716C>T ENST00000234313.7 + 5 734 c.555C>T c.(553-555)ctC>ctT p.L185L NM_002664.2 NP_002655.2 P08567 PLEK_HUMAN pleckstrin 185 DEP. actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) CATCGCTGCTCAATGAGGGGT 0.512000 17 45 0 0 1 0 0 FBXO42 54455 broad.mit.edu 37 1 16578101 16578101 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:16578101G>A ENST00000375592.3 - 10 1434 c.1218C>T c.(1216-1218)ggC>ggT p.G406G NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 406 autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) TTCCCCAGCGGCCGTTAACAC 0.577000 3 29 0 0 1 0 0 ARMCX6 54470 broad.mit.edu 37 X 100871339 100871339 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chrX:100871339C>T ENST00000539247.1 - 4 704 c.272G>A c.(271-273)gGa>gAa p.G91E ARMCX6_ENST00000497931.1_Intron|ARMCX6_ENST00000361910.4_Missense_Mutation_p.G91E|ARMCX6_ENST00000538627.1_Missense_Mutation_p.G91E NM_001184768.1 NP_001171697.1 Q7L4S7 ARMX6_HUMAN armadillo repeat containing, X-linked 6 91 integral to membrane endometrium(3)|kidney(1)|liver(2)|lung(3) 9 GGCCTTGCCTCCCCCTGAGGG 0.507000 27 28 0 0 1 0 0 R3HDM1 23518 broad.mit.edu 37 2 136389334 136389334 + Missense_Mutation SNP A A G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:136389334A>G ENST00000264160.4 + 8 914 c.544A>G c.(544-546)Att>Gtt p.I182V R3HDM1_ENST00000329971.3_Missense_Mutation_p.I138V|R3HDM1_ENST00000409606.1_Missense_Mutation_p.I182V|R3HDM1_ENST00000409478.1_Missense_Mutation_p.I138V|R3HDM1_ENST00000410054.1_Missense_Mutation_p.I126V NM_001282798.1|NM_015361.2 NP_001269727.1|NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 182 R3H. nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) TTTAGATTTCATTGGTAATAA 0.333000 6 21 0 0 1 0 0 BTN2A2 10385 broad.mit.edu 37 6 26390936 26390936 + Splice_Site SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr6:26390936G>A ENST00000356709.4 + 6 1063 c.e6+1 BTN2A2_ENST00000432533.2_Splice_Site|BTN2A2_ENST00000482536.1_Splice_Site|BTN2A2_ENST00000416795.2_Splice_Site|BTN2A2_ENST00000469230.1_Splice_Site|BTN2A2_ENST00000352867.2_Splice_Site NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 GAAGAATTGCGTAAGTTTAGC 0.388000 21 97 0 0 1 0 0 SHOX2 6474 broad.mit.edu 37 3 157815975 157815975 + Silent SNP T T G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr3:157815975T>G ENST00000490689.2 - 5 1947 c.414A>C c.(412-414)gcA>gcC p.A138A SHOX2_ENST00000389589.4_Silent_p.A303A|SHOX2_ENST00000483851.2_Silent_p.A267A|SHOX2_ENST00000425436.3_Silent_p.A279A|SHOX2_ENST00000441443.2_Silent_p.A138A O60902 SHOX2_HUMAN short stature homeobox 2 279 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1) 20 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) CGAAGGGCGGTGCTGGGAACA 0.701000 37 89 0 0 1 0 0 PRLR 5618 broad.mit.edu 37 5 35084740 35084740 + Splice_Site SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr5:35084740C>G ENST00000382002.5 - 5 631 c.205G>C c.(205-207)Gag>Cag p.E69Q PRLR_ENST00000342362.5_Intron|PRLR_ENST00000513753.1_Splice_Site_p.E69Q|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000397391.3_5'UTR|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000310101.5_Splice_Site_p.E69Q|PRLR_ENST00000348262.3_Splice_Site_p.E69Q|PRLR_ENST00000231423.3_Splice_Site_p.E69Q|PRLR_ENST00000542609.1_Splice_Site_p.E69Q NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 69 Fibronectin type-III 1. activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) ATGAGTGTCTCTCTGCAATAA 0.408000 7 40 0 0 1 0 0 OR5L2 26338 broad.mit.edu 37 11 55594970 55594970 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr11:55594970C>G ENST00000378397.1 + 1 276 c.276C>G c.(274-276)atC>atG p.I92M NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) ACAAAGCCATCTCCTTCCTAG 0.458000 HNSCC(27;0.073) 29 116 0 0 1 0 0 CALML6 163688 broad.mit.edu 37 1 1847136 1847136 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:1847136C>T ENST00000307786.3 + 2 494 c.40C>T c.(40-42)Cac>Tac p.H14Y CALML6_ENST00000462293.1_3'UTR NM_138705.2 NP_619650.2 Q8TD86 CALL6_HUMAN calmodulin-like 6 14 cytoplasm|nucleus calcium ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2) 7 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) GCCCTGGTGTCACCACCCTGC 0.627000 3 12 0 0 1 0 0 L2HGDH 79944 broad.mit.edu 37 14 50769707 50769707 + Nonsense_Mutation SNP C C A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr14:50769707C>A ENST00000267436.4 - 2 566 c.169G>T c.(169-171)Gga>Tga p.G57* L2HGDH_ENST00000555423.1_Nonsense_Mutation_p.G57*|L2HGDH_ENST00000556393.1_5'UTR|L2HGDH_ENST00000555610.1_Nonsense_Mutation_p.G57*|L2HGDH_ENST00000261699.4_Nonsense_Mutation_p.G57*|L2HGDH_ENST00000421284.3_Nonsense_Mutation_p.G57* Q9H9P8 L2HDH_HUMAN L-2-hydroxyglutarate dehydrogenase 57 G -> R (in L2HGA). 2-oxoglutarate metabolic process|cellular protein metabolic process integral to mitochondrial inner membrane 2-hydroxyglutarate dehydrogenase activity kidney(1)|large_intestine(4)|lung(3)|ovary(2) 10 all_epithelial(31;0.000599)|Breast(41;0.0102) CCCACAATTCCGCCACCAACG 0.388000 16 42 3.99206e-14 4.40124e-14 1 1 0 MPP2 4355 broad.mit.edu 37 17 41958910 41958910 + Silent SNP G G A rs146551557 byFrequency TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr17:41958910G>A ENST00000269095.4 - 7 1033 c.729C>T c.(727-729)ctC>ctT p.L243L MPP2_ENST00000520305.1_Silent_p.L104L|MPP2_ENST00000461854.1_Silent_p.L267L|MPP2_ENST00000377184.3_Silent_p.L260L|MPP2_ENST00000536246.1_Silent_p.L232L|MPP2_ENST00000518766.1_Silent_p.L288L|MPP2_ENST00000523501.1_Silent_p.L232L NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 267 signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) TGCAGGGGATGAGGCTGTCTC 0.597000 8 32 0 0 1 0 0 HEATR5B 54497 broad.mit.edu 37 2 37229556 37229556 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:37229556G>C ENST00000233099.5 - 32 5305 c.5210C>G c.(5209-5211)tCt>tGt p.S1737C HEATR5B_ENST00000354531.2_Intron NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1737 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) GTGACTTGGAGAGTCTGACAC 0.443000 28 90 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13781027 13781027 + Silent SNP C C A rs145381989 TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr5:13781027C>A ENST00000265104.4 - 53 8966 c.8862G>T c.(8860-8862)ctG>ctT p.L2954L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2954 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCACCCCGACCAGGAGGGCAT 0.463000 Kartagener syndrome 9 41 0.000442599 0.000452868 1 1 0 PARPBP 55010 broad.mit.edu 37 12 102558258 102558258 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr12:102558258C>T ENST00000327680.2 + 6 758 c.295C>T c.(295-297)Ctg>Ttg p.L99L PARPBP_ENST00000543784.1_Silent_p.L66L|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000392911.2_Silent_p.L99L|PARPBP_ENST00000541394.1_Silent_p.L257L|PARPBP_ENST00000358383.5_Silent_p.L180L|PARPBP_ENST00000378128.3_Silent_p.L180L NM_017915.3 NP_060385.3 Q9NWS1 PR1BP_HUMAN PARP1 binding protein 180 response to DNA damage stimulus cytoplasm|nucleus DNA binding endometrium(1)|lung(8)|urinary_tract(2) 11 ATATTTAAATCTGCTAGTGAA 0.348000 13 62 0 0 1 0 0 ZNF574 64763 broad.mit.edu 37 19 42583410 42583410 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:42583410G>A ENST00000600245.1 + 2 1307 c.652G>A c.(652-654)Gag>Aag p.E218K CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Missense_Mutation_p.E218K|ZNF574_ENST00000222339.7_Missense_Mutation_p.E308K Q6ZN55 ZN574_HUMAN zinc finger protein 574 218 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Prostate(69;0.059) CAAGTGCTCTGAGTGCTCCCA 0.612000 5 92 0 0 1 0 0 IFRD1 3475 broad.mit.edu 37 7 112096062 112096062 + Nonsense_Mutation SNP G G T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr7:112096062G>T ENST00000403825.3 + 3 466 c.205G>T c.(205-207)Gaa>Taa p.E69* IFRD1_ENST00000005558.4_Nonsense_Mutation_p.E69*|IFRD1_ENST00000535603.1_Nonsense_Mutation_p.E19*|IFRD1_ENST00000429071.1_Nonsense_Mutation_p.E69* NM_001550.3 NP_001541.2 O00458 IFRD1_HUMAN interferon-related developmental regulator 1 69 multicellular organismal development|myoblast cell fate determination binding p.E69K(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1) 15 CTTAGGACCAGAAGTCCTTGA 0.368000 3 42 0.004672 0.00469328 1 1 0 SLK 9748 broad.mit.edu 37 10 105777993 105777993 + Nonsense_Mutation SNP G G T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr10:105777993G>T ENST00000369755.3 + 14 3498 c.2953G>T c.(2953-2955)Gag>Tag p.E985* SLK_ENST00000474260.1_3'UTR|SLK_ENST00000335753.4_Nonsense_Mutation_p.E954* NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 985 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GCAGAAGGCAGAGTTAGCTAA 0.343000 6 27 0.000157383 0.000162925 1 1 0 GART 2618 broad.mit.edu 37 21 34900500 34900500 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr21:34900500C>G ENST00000381831.3 - 10 1302 c.1039G>C c.(1039-1041)Gac>Cac p.D347H GART_ENST00000361093.5_Missense_Mutation_p.D347H|GART_ENST00000381839.3_Missense_Mutation_p.D347H|GART_ENST00000381815.4_Missense_Mutation_p.D347H NM_001136005.1 NP_001129477.1 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 347 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) TTGGTGTAGTCTCCAGGATAA 0.517000 21 45 0 0 1 0 0 DNAJC1 64215 broad.mit.edu 37 10 22208774 22208774 + Nonsense_Mutation SNP C C A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr10:22208774C>A ENST00000376980.3 - 5 912 c.622G>T c.(622-624)Gaa>Taa p.E208* NM_022365.3 NP_071760.2 Q96KC8 DNJC1_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 1 208 negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2) 21 Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262) TCATTTTTTTCTGAAGCACCG 0.289000 9 166 2.27111e-07 2.43097e-07 1 1 0 IQGAP2 10788 broad.mit.edu 37 5 75989253 75989253 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr5:75989253G>C ENST00000274364.6 + 31 4276 c.3979G>C c.(3979-3981)Gca>Cca p.A1327P IQGAP2_ENST00000396234.3_Missense_Mutation_p.A823P|IQGAP2_ENST00000502745.1_Missense_Mutation_p.A823P|IQGAP2_ENST00000379730.3_Missense_Mutation_p.A829P|CTD-2384B11.2_ENST00000507514.1_RNA NM_006633.2 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 1327 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) AGAGACACCAGCAACTGCGCA 0.373000 5 41 0 0 1 0 0 CDH11 1009 broad.mit.edu 37 16 65026896 65026896 + Missense_Mutation SNP G G A rs144201451 TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr16:65026896G>A ENST00000394156.3 - 5 1018 c.565C>T c.(565-567)Ccc>Tcc p.P189S CDH11_ENST00000566827.1_Missense_Mutation_p.P63S|CDH11_ENST00000268603.4_Missense_Mutation_p.P189S P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 189 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding p.P189S(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CCATAAGTGGGGTCATCTGCA 0.408000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 18 38 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10920140 10920140 + Silent SNP T T G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr21:10920140T>G ENST00000298232.7 - 18 1427 c.1060A>C c.(1060-1062)Agg>Cgg p.R354R TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.R372R|TPTE_ENST00000342420.5_Silent_p.R334R NM_199259.2 NP_954868 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 372 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCTGTTCGCCTTTCTCCAAAA 0.383000 12 84 0 0 1 0 0 C20orf196 149840 broad.mit.edu 37 20 5753598 5753598 + Silent SNP C C T rs148670343 TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr20:5753598C>T ENST00000303142.6 + 2 174 c.87C>T c.(85-87)taC>taT p.Y29Y C20orf196_ENST00000378979.4_Silent_p.Y29Y NM_152504.2 NP_689717.2 Q8IYI0 CT196_HUMAN chromosome 20 open reading frame 196 29 endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1) 9 TAAGAGATTACGTCCTGCAGG 0.517000 5 67 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42839192 42839192 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:42839192G>A ENST00000334370.4 + 4 1199 c.564G>A c.(562-564)ctG>ctA p.L188L MEGF8_ENST00000251268.6_Silent_p.L188L NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 188 EGF-like 2. integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) CGCAGCCCCTGGGACCATGCC 0.582000 7 30 0 0 1 0 0 ING1 3621 broad.mit.edu 37 13 111367942 111367942 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr13:111367942G>A ENST00000375774.3 + 1 614 c.152G>A c.(151-153)cGa>cAa p.R51Q ING1_ENST00000333219.7_Intron|ING1_ENST00000375775.3_Intron|ING1_ENST00000464141.1_Intron|ING1_ENST00000338450.7_Intron NM_005537.4 NP_005528.3 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 51 cell cycle|negative regulation of cell growth|negative regulation of cell proliferation nucleus zinc ion binding endometrium(4)|large_intestine(6)|lung(1)|ovary(1) 12 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) GAGGGTGGACGAGTTGATTTG 0.602000 4 30 0 0 1 0 0 MEF2A 4205 broad.mit.edu 37 15 100211576 100211576 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr15:100211576G>A ENST00000338042.6 + 4 626 c.307G>A c.(307-309)Gat>Aat p.D103N MEF2A_ENST00000557785.1_Missense_Mutation_p.D103N|MEF2A_ENST00000449277.2_Missense_Mutation_p.D35N|MEF2A_ENST00000558812.1_Missense_Mutation_p.D35N|MEF2A_ENST00000453228.2_Missense_Mutation_p.D103N|MEF2A_ENST00000557942.1_Missense_Mutation_p.D103N|MEF2A_ENST00000354410.5_Intron Q02078 MEF2A_HUMAN myocyte enhancer factor 2A 103 apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|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|ventricular cardiac myofibril development nuclear chromatin|nucleoplasm activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding endometrium(2)|large_intestine(2)|lung(7)|ovary(1) 12 Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00085) TGATGCTGACGATTACTTTGA 0.378000 18 71 0 0 1 0 0 RBM5 10181 broad.mit.edu 37 3 50145669 50145669 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr3:50145669C>T ENST00000347869.3 + 14 1299 c.1124C>T c.(1123-1125)tCa>tTa p.S375L RBM5_ENST00000441812.2_3'UTR NM_005778.3 NP_005769.1 P52756 RBM5_HUMAN RNA binding motif protein 5 375 Required for interaction with U2AF2. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2) 19 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTTCAGTATTCACAGGATTAT 0.398000 11 89 0 0 1 0 0 SLX4IP 128710 broad.mit.edu 37 20 10582462 10582462 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr20:10582462G>C ENST00000334534.5 + 6 580 c.400G>C c.(400-402)Gat>Cat p.D134H NM_001009608.1 NP_001009608.1 SLX4 interacting protein TCAGAATGAAGATTTGGTGAG 0.333000 5 41 0 0 1 0 0 PCNXL4 64430 broad.mit.edu 37 14 60574649 60574649 + Nonsense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr14:60574649C>G ENST00000406854.1 + 2 847 c.293C>G c.(292-294)tCa>tGa p.S98* PCNXL4_ENST00000391611.2_Nonsense_Mutation_p.S98*|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000404681.2_Nonsense_Mutation_p.S98*|PCNXL4_ENST00000317623.4_Intron pecanex-like 4 (Drosophila) AAAAACAAATCAACAACAGTA 0.383000 7 24 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23066062 23066062 + Silent SNP G G T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr20:23066062G>T ENST00000246006.4 - 1 915 c.768C>A c.(766-768)ctC>ctA p.L256L NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 256 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GGCTGACACAGAGGGGGCCCG 0.602000 15 98 0.000219431 0.000226626 1 1 0 SCN5A 6331 broad.mit.edu 37 3 38607931 38607931 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr3:38607931G>A ENST00000413689.1 - 21 4002 c.3809C>T c.(3808-3810)gCc>gTc p.A1270V SCN5A_ENST00000414099.2_Missense_Mutation_p.A1270V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A1216V|SCN5A_ENST00000333535.4_Missense_Mutation_p.A1270V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A1269V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A1269V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A1269V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A1270V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A1216V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A1216V NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1270 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CCAGCACCAGGCATTGGTGAA 0.552000 4 52 0 0 1 0 0 RBM5 10181 broad.mit.edu 37 3 50144985 50144985 + Nonsense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr3:50144985C>T ENST00000347869.3 + 12 1199 c.1024C>T c.(1024-1026)Cag>Tag p.Q342* RBM5_ENST00000441812.2_3'UTR NM_005778.3 NP_005769.1 P52756 RBM5_HUMAN RNA binding motif protein 5 342 Required for interaction with U2AF2. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2) 19 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGCTGCTGCTCAGTGGTCATC 0.507000 7 46 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1367597 1367597 + Missense_Mutation SNP T T A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr3:1367597T>A ENST00000446702.2 + 9 1672 c.1045T>A c.(1045-1047)Tat>Aat p.Y349N CNTN6_ENST00000350110.2_Missense_Mutation_p.Y349N|CNTN6_ENST00000539053.1_Missense_Mutation_p.Y277N Q9UQ52 CNTN6_HUMAN contactin 6 349 Ig-like C2-type 4. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) AAACCCTTGGTATACATGGTT 0.378000 10 43 0 0 1 0 0 ZNF341 84905 broad.mit.edu 37 20 32332958 32332958 + Silent SNP G G T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr20:32332958G>T ENST00000375200.1 + 3 557 c.192G>T c.(190-192)tcG>tcT p.S64S ZNF341_ENST00000342427.2_Silent_p.S64S NM_001282933.1 NP_001269862.1 Q9BYN7 ZN341_HUMAN zinc finger protein 341 64 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 AATTCAACTCGCTGCCAGCGT 0.562000 14 51 7.93312e-07 8.43014e-07 1 1 0 PDE1B 5153 broad.mit.edu 37 12 54970359 54970359 + Nonsense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr12:54970359C>T ENST00000243052.3 + 14 1817 c.1381C>T c.(1381-1383)Cag>Tag p.Q461* PDE1B_ENST00000394277.3_3'UTR|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000538346.1_Nonsense_Mutation_p.Q420*|PDE1B_ENST00000550620.1_Nonsense_Mutation_p.Q441* NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 461 Catalytic (By similarity). activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 TTCTAGCTTTCAGTGGCGCCA 0.572000 3 19 0 0 1 0 0 RC3H1 149041 broad.mit.edu 37 1 173910450 173910450 + Silent SNP T T C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:173910450T>C ENST00000367696.2 - 19 3555 c.3204A>G c.(3202-3204)ccA>ccG p.P1068P RC3H1_ENST00000258349.4_Silent_p.P1068P|RC3H1_ENST00000367694.2_Silent_p.P1059P Q5TC82 RC3H1_HUMAN ring finger and CCCH-type domains 1 1068 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 TTTGTGGTTCTGGTTGTCCAT 0.368000 4 92 0 0 1 0 0 CYP2A13 1553 broad.mit.edu 37 19 41600901 41600901 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:41600901G>C ENST00000330436.3 + 8 1199 c.1199G>C c.(1198-1200)aGa>aCa p.R400T NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 400 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) TCCGTGCTGAGAGACCCCAGG 0.547000 6 96 0 0 1 0 0 KRT78 196374 broad.mit.edu 37 12 53241885 53241885 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr12:53241885C>T ENST00000359499.4 - 2 86 c.75G>A c.(73-75)caG>caA p.Q25Q KRT78_ENST00000304620.4_Silent_p.Q135Q Q8N1N4 K2C78_HUMAN keratin 78 135 Gly-rich.|Head. R -> H (in dbSNP:rs11170289). keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 GGACCTTGTTCTGCTGCTCCA 0.607000 3 21 0 0 1 0 0 KIAA2026 158358 broad.mit.edu 37 9 5924783 5924783 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr9:5924783C>G ENST00000399933.3 - 7 2560 c.2561G>C c.(2560-2562)aGa>aCa p.R854T KIAA2026_ENST00000381461.2_Missense_Mutation_p.R824T NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 854 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) CCATAGTTCTCTATTAAATGT 0.373000 19 56 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47632823 47632823 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr20:47632823G>A ENST00000371917.4 + 31 4186 c.4186G>A c.(4186-4188)Gag>Aag p.E1396K NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 1396 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) CCAGAAATCTGAGTGGATGAC 0.378000 31 56 0 0 1 0 0 ADARB2 105 broad.mit.edu 37 10 1229217 1229217 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr10:1229217C>T ENST00000381312.1 - 10 2461 c.2136G>A c.(2134-2136)caG>caA p.Q712Q ADARB2_ENST00000381305.1_Silent_p.Q114Q|ADARB2_ENST00000381310.3_Silent_p.Q221Q NM_018702.3 NP_061172.1 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 (non-functional) 712 A to I editase. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) CCTTGAACAGCTGCTGTTTCA 0.622000 11 31 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9057061 9057061 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:9057061C>G ENST00000397910.4 - 3 30588 c.30385G>C c.(30385-30387)Gct>Cct p.A10129P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10131 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGGTATGTAGCCTTGGATGGC 0.468000 4 34 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23776605 23776605 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr7:23776605G>A ENST00000354639.3 + 8 1320 c.856G>A c.(856-858)Gaa>Aaa p.E286K STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.E309K|STK31_ENST00000355870.3_Missense_Mutation_p.E309K|STK31_ENST00000428484.1_Missense_Mutation_p.E286K NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 309 ATP binding|nucleic acid binding|protein serine/threonine kinase activity p.E309*(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 ACTGATTGAAGAAAATGAAAA 0.378000 9 33 0 0 1 0 0 ZNF331 55422 broad.mit.edu 37 19 54074950 54074950 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:54074950G>A ENST00000253144.9 + 6 1435 c.102G>A c.(100-102)gtG>gtA p.V34V ZNF331_ENST00000512387.1_Silent_p.V34V|ZNF331_ENST00000511593.2_Silent_p.V34V|ZNF331_ENST00000511154.1_Silent_p.V34V|ZNF331_ENST00000513265.1_Silent_p.V34V|ZNF331_ENST00000449416.1_Silent_p.V34V|ZNF331_ENST00000411977.2_Silent_p.V34V|ZNF331_ENST00000513999.1_Silent_p.V34V NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 34 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) ACTGGGACGTGATGCTGGAGA 0.522000 T ? follicular thyroid adenoma 10 155 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155575620 155575620 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr6:155575620C>T ENST00000461783.3 + 28 5654 c.4381C>T c.(4381-4383)Cac>Tac p.H1461Y RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000456877.2_Missense_Mutation_p.H773Y|TIAM2_ENST00000456144.1_Missense_Mutation_p.H1490Y|TIAM2_ENST00000360366.4_Missense_Mutation_p.H1485Y|TIAM2_ENST00000318981.5_Missense_Mutation_p.H1461Y|TIAM2_ENST00000529824.2_Missense_Mutation_p.H1490Y|TIAM2_ENST00000528391.2_Missense_Mutation_p.H797Y|TIAM2_ENST00000275246.7_Missense_Mutation_p.H386Y|TIAM2_ENST00000367174.2_Missense_Mutation_p.H837Y Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1461 PH 2. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) CTTCAGGCGTCACATAAAGTG 0.458000 7 43 0 0 1 0 0 CHRNB3 1142 broad.mit.edu 37 8 42587514 42587514 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr8:42587514G>A ENST00000289957.2 + 5 1192 c.1064G>A c.(1063-1065)cGc>cAc p.R355H NM_000749.3 NP_000740.1 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 3 (neuronal) 355 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) CATGTGGATCGCTACTCATCC 0.443000 11 23 0 0 1 0 0 AGL 178 broad.mit.edu 37 1 100379279 100379279 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:100379279C>T ENST00000294724.4 + 30 4624 c.4146C>T c.(4144-4146)acC>acT p.T1382T AGL_ENST00000361522.4_Silent_p.T1365T|AGL_ENST00000370161.2_Silent_p.T1366T|AGL_ENST00000361915.3_Silent_p.T1382T|AGL_ENST00000370163.3_Silent_p.T1382T|AGL_ENST00000361302.3_Silent_p.T1366T|AGL_ENST00000370165.3_Silent_p.T1382T NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1382 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) CTAATTTTACCATAGCAATGG 0.363000 11 95 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44845599 44845599 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr20:44845599C>T ENST00000372262.3 - 4 1104 c.704G>A c.(703-705)cGc>cAc p.R235H CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Missense_Mutation_p.R235H NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 235 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) CTGGCTCTCGCGGTCAAGGTC 0.652000 6 85 0 0 1 0 0 MCCC1 56922 broad.mit.edu 37 3 182769955 182769955 + Missense_Mutation SNP A A G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr3:182769955A>G ENST00000492597.1 - 8 1322 c.620T>C c.(619-621)gTt>gCt p.V207A MCCC1_ENST00000539926.1_Missense_Mutation_p.V181A|MCCC1_ENST00000265594.4_Missense_Mutation_p.V316A Q96RQ3 MCCA_HUMAN methylcrotonoyl-CoA carboxylase 1 (alpha) 316 ATP-grasp.|Biotin carboxylation. biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2) 40 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) ACCTGCTCCAACATAATTTAC 0.338000 4 37 0 0 1 0 0 FBLN7 129804 broad.mit.edu 37 2 112940424 112940424 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:112940424G>A ENST00000331203.2 + 6 998 c.727G>A c.(727-729)Gcc>Acc p.A243T FBLN7_ENST00000409903.1_Missense_Mutation_p.A243T|FBLN7_ENST00000409667.3_Intron|FBLN7_ENST00000409450.3_Missense_Mutation_p.A197T NM_001128165.1|NM_153214.2 NP_001121637.1|NP_694946.2 Q53RD9 FBLN7_HUMAN fibulin 7 243 EGF-like 2; calcium-binding (Potential). cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 CTGCATGCACGCCTGCGTGAA 0.617000 14 51 0 0 1 0 0 TMEM257 9142 broad.mit.edu 37 X 144909442 144909442 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chrX:144909442C>G ENST00000408967.2 + 1 515 c.247C>G c.(247-249)Cat>Gat p.H83D NM_004709.2 NP_004700.1 transmembrane protein 257 GACGTATGAGCATCAGCACAG 0.388000 5 18 0 0 1 0 0 CES2 8824 broad.mit.edu 37 16 66977802 66977802 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr16:66977802G>A ENST00000317091.4 + 12 2730 c.1746G>A c.(1744-1746)ctG>ctA p.L582L RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Silent_p.L566L NM_003869.5 NP_003860.2 O00748 EST2_HUMAN carboxylesterase 2 518 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) AGCAATACCTGCAGCTGAACC 0.622000 18 17 0 0 1 0 0 REC8 9985 broad.mit.edu 37 14 24648050 24648050 + Silent SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr14:24648050C>G ENST00000311457.3 + 15 1727 c.1128C>G c.(1126-1128)ctC>ctG p.L376L REC8_ENST00000559919.1_Silent_p.L376L O95072 REC8_HUMAN REC8 meiotic recombination protein 377 Glu-rich. mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion nucleoplasm breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(265;0.00839) CAAAAGCCCTCAGGCGAGAGC 0.572000 60 158 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168103510 168103510 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr2:168103510G>A ENST00000409195.1 + 9 5697 c.5608G>A c.(5608-5610)Gcc>Acc p.A1870T XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.A1870T|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.A1648T|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1695 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TAACATGCTAGCCACACTCAA 0.383000 16 33 0 0 1 0 0 OR8K5 219453 broad.mit.edu 37 11 55926955 55926955 + Missense_Mutation SNP A A G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr11:55926955A>G ENST00000313447.1 - 1 838 c.839T>C c.(838-840)tTa>tCa p.L280S NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) GGGGATTACTAAAGTGTAAAA 0.383000 7 44 0 0 1 0 0 TNNI3K 51086 broad.mit.edu 37 1 75009625 75009625 + Missense_Mutation SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:75009625C>G ENST00000370891.2 + 27 2786 c.2770C>G c.(2770-2772)Cat>Gat p.H924D TNNI3K_ENST00000465473.1_3'UTR|TNNI3K_ENST00000326637.3_Missense_Mutation_p.H823D|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.H937D NM_001112808.2 NP_001106279.2 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 AATGCATTTTCATTCTTGCCG 0.423000 16 41 0 0 1 0 0 LTBP3 4054 broad.mit.edu 37 11 65307976 65307976 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr11:65307976C>T ENST00000301873.5 - 22 3355 c.3087G>A c.(3085-3087)ggG>ggA p.G1029G LTBP3_ENST00000529189.1_Silent_p.G32G|LTBP3_ENST00000536982.1_Silent_p.G655G|LTBP3_ENST00000322147.4_Silent_p.G1029G|LTBP3_ENST00000532932.1_Silent_p.G459G|LTBP3_ENST00000530785.1_Silent_p.G32G NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 1029 EGF-like 10; calcium-binding (Potential). extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 CCAGCAGGTTCCCGTCGTAGT 0.662000 OREG0021080 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 22 0 0 1 0 0 TMED8 283578 broad.mit.edu 37 14 77810143 77810143 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr14:77810143C>T ENST00000216468.7 - 4 406 c.351G>A c.(349-351)caG>caA p.Q117Q NM_213601.1 NP_998766.1 Q6PL24 TMED8_HUMAN transmembrane emp24 protein transport domain containing 8 117 transport integral to membrane breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4) 15 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) CCCCAGACCTCTGTGGAACTT 0.448000 30 89 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186017916 186017916 + Nonsense_Mutation SNP T T A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:186017916T>A ENST00000271588.4 + 42 6751 c.6522T>A c.(6520-6522)tgT>tgA p.C2174* HMCN1_ENST00000367492.2_Nonsense_Mutation_p.C2174* NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2174 Ig-like C2-type 19. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GTTACACTTGTGAAGCAACAA 0.353000 15 70 0 0 1 0 0 XRCC1 7515 broad.mit.edu 37 19 44056957 44056957 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:44056957C>T ENST00000262887.5 - 8 1362 c.815G>A c.(814-816)aGa>aAa p.R272K XRCC1_ENST00000543982.1_Missense_Mutation_p.R241K P18887 XRCC1_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 1 272 base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Prostate(69;0.0153) ACATTTAGGTCTCTTGGGAAC 0.547000 Other BER factors 4 9 0 0 1 0 0 ZNF559 84527 broad.mit.edu 37 19 9452845 9452845 + Missense_Mutation SNP T T G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:9452845T>G ENST00000393883.2 + 6 1366 c.718T>G c.(718-720)Ttc>Gtc p.F240V ZNF559_ENST00000587557.1_Missense_Mutation_p.F304V|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592896.1_3'UTR|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.F160V|ZNF559_ENST00000603380.1_Missense_Mutation_p.F240V|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000541595.2_Intron NM_001202412.1 NP_001189341.1 Q9BR84 ZN559_HUMAN zinc finger protein 559 240 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1) 26 TGGAGAAAAATTCTATGAATG 0.363000 6 66 0 0 1 0 0 MYRF 745 broad.mit.edu 37 11 61547373 61547373 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr11:61547373C>T ENST00000278836.5 + 17 2403 c.2307C>T c.(2305-2307)atC>atT p.I769I MYRF_ENST00000389602.4_Silent_p.I160I|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000327797.1_Silent_p.I415I|MYRF_ENST00000265460.5_Silent_p.I760I NM_001127392.1 NP_001120864.1 myelin regulatory factor AGGGAACCATCATTGCCCTGG 0.602000 9 12 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44086652 44086652 + Silent SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:44086652G>A ENST00000359947.4 + 32 5848 c.5508G>A c.(5506-5508)acG>acA p.T1836T PTPRF_ENST00000372413.3_Silent_p.T1827T|PTPRF_ENST00000422171.2_Silent_p.T1195T|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Silent_p.T1836T|PTPRF_ENST00000438120.1_Silent_p.T1827T NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1836 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity p.T1826T(1) NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GGCCTATCACGGTGCACTGCA 0.632000 3 19 0 0 1 0 0 RGS19 10287 broad.mit.edu 37 20 62707951 62707951 + Missense_Mutation SNP C C A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr20:62707951C>A ENST00000395042.1 - 3 345 c.79G>T c.(79-81)Gat>Tat p.D27Y RGS19_ENST00000493165.1_5'UTR|RGS19_ENST00000332298.5_Missense_Mutation_p.D27Y NM_005873.2 NP_005864.1 P49795 RGS19_HUMAN regulator of G-protein signaling 19 27 autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction Golgi apparatus|membrane fraction|plasma membrane GTPase activator activity|protein binding|signal transducer activity lung(1)|prostate(1)|skin(1) 3 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) GAGGCTGTATCATGACTGGAC 0.637000 38 58 1.7489e-18 1.93786e-18 1 1 0 DCTN4 51164 broad.mit.edu 37 5 150102489 150102489 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr5:150102489G>C ENST00000447998.2 - 9 1003 c.888C>G c.(886-888)ttC>ttG p.F296L DCTN4_ENST00000446090.2_Missense_Mutation_p.F303L|DCTN4_ENST00000424236.1_Missense_Mutation_p.F239L NM_016221.3 NP_057305.1 Q9UJW0 DCTN4_HUMAN dynactin 4 (p62) 296 centrosome|nucleus protein N-terminus binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 10 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCTGGATTTTGAATTTGATTG 0.343000 6 16 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103412917 103412917 + Silent SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr14:103412917G>C ENST00000361246.2 - 28 3924 c.3636C>G c.(3634-3636)ctC>ctG p.L1212L NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 1212 PH. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) GGATGGACTGGAGTCCTTCTA 0.512000 10 41 0 0 1 0 0 ACBD3 64746 broad.mit.edu 37 1 226334447 226334447 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:226334447C>T ENST00000366812.5 - 8 1505 c.1451G>A c.(1450-1452)cGa>cAa p.R484Q NM_022735.3 NP_073572.2 Q9H3P7 GCP60_HUMAN acyl-CoA binding domain containing 3 484 GOLD. steroid biosynthetic process|transport Golgi membrane|integral to membrane|mitochondrion fatty-acyl-CoA binding|protein binding breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2) 20 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.121) ACAGTCCCGTCGGTACACAGG 0.473000 4 78 0 0 1 0 0 ITGA7 3679 broad.mit.edu 37 12 56092248 56092248 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr12:56092248G>C ENST00000257880.7 - 8 1462 c.1243C>G c.(1243-1245)Ctc>Gtc p.L415V ITGA7_ENST00000452168.2_Missense_Mutation_p.L278V|ITGA7_ENST00000553804.1_Missense_Mutation_p.L375V|ITGA7_ENST00000394230.2_Missense_Mutation_p.L375V|ITGA7_ENST00000347027.6_Missense_Mutation_p.L371V|ITGA7_ENST00000394229.2_Missense_Mutation_p.L371V|ITGA7_ENST00000555728.1_Missense_Mutation_p.L415V|ITGA7_ENST00000257879.6_Missense_Mutation_p.L371V Q13683 ITA7_HUMAN integrin, alpha 7 415 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CAGAGCCGGAGAGGGGAGATC 0.607000 12 34 0 0 1 0 0 SLC26A3 1811 broad.mit.edu 37 7 107408354 107408354 + Splice_Site SNP C C G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr7:107408354C>G ENST00000340010.5 - 19 2247 c.e19-1 SLC26A3_ENST00000422236.2_Splice_Site NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 ATGAAGTCATCTGAAGAGAAA 0.348000 6 33 0 0 1 0 0 SUV420H1 51111 broad.mit.edu 37 11 67926158 67926158 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr11:67926158G>C ENST00000304363.4 - 11 2008 c.1655C>G c.(1654-1656)tCt>tGt p.S552C NM_017635.3 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 (Drosophila) 552 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 CTTGATGTCAGAGGCCTCCTT 0.537000 16 101 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111772435 111772435 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr12:111772435G>C ENST00000261726.6 + 19 3271 c.3117G>C c.(3115-3117)gaG>gaC p.E1039D NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 1039 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GCATCCAGGAGATCGTGGCCA 0.617000 5 11 0 0 1 0 0 EQTN 54586 broad.mit.edu 37 9 27289694 27289694 + Missense_Mutation SNP C C A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr9:27289694C>A ENST00000380032.3 - 6 540 c.457G>T c.(457-459)Gat>Tat p.D153Y EQTN_ENST00000537675.1_Missense_Mutation_p.D124Y NM_020641.2 NP_065692.2 equatorin, sperm acrosome associated AATAATTGATCTTTATCATCC 0.383000 6 74 8.12818e-05 8.43419e-05 1 1 0 DAND5 199699 broad.mit.edu 37 19 13080799 13080799 + Splice_Site SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:13080799G>A ENST00000317060.2 + 1 503 c.e1+1 DAND5_ENST00000585548.1_Splice_Site NM_152654.2 NP_689867.1 Q8N907 DAND5_HUMAN DAN domain family member 5, BMP antagonist extracellular region kidney(2)|lung(3)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(19;1.87e-18) CTTCGTTCAGGTGAGTGGGTG 0.597000 7 30 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27106804 27106804 + Frame_Shift_Del DEL C C - TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:27106804delC ENST00000324856.7 + 20 6786 c.6415delC c.(6415-6417)cccfs p.P2140fs ARID1A_ENST00000540690.1_Frame_Shift_Del_p.P468fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.P1757fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.P1923fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 2140 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.F2141fs*59(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TCTGGCCACACCCCCCTTCAG 0.587 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 15 76 --- --- --- --- KCNN3 3782 broad.mit.edu 37 1 154842199 154842200 + In_Frame_Ins INS - - GCTGCT rs58327065 TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr1:154842199_154842200insGCTGCT ENST00000271915.4 - 1 556_557 c.241_242insAGCAGC c.(241-243)cca>cAGCAGCca p.80_81insQQ NM_001204087.1|NM_002249.5 NP_001191016.1|NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 Poly-Gln. integral to membrane calmodulin binding p.Q80_P81insQQ(2) cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GGGATGCGGTGgctgctgctgc 0.698 4 6 --- --- --- --- PCDHGA2 56113 broad.mit.edu 37 5 140719309 140719309 + Frame_Shift_Del DEL G G - TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr5:140719309delG ENST00000394576.2 + 1 771 c.771delG c.(769-771)gtgfs p.V257fs PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATACGCTCGTGGGCACCCGGA 0.552 11 95 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149482640 149482640 + RNA DEL C C - TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr7:149482640delC ENST00000378016.2 + 0 3056 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCATCAGGCGCCCCCCACTAT 0.652 10 5 --- --- --- --- CPSF1 29894 broad.mit.edu 37 8 145618927 145618928 + Frame_Shift_Ins INS - - TA TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr8:145618927_145618928insTA ENST00000349769.3 - 36 4193_4194 c.4099_4100insTA c.(4099-4101)accfs p.T1367fs CPSF1_ENST00000531727.1_5'UTR NM_013291.2 NP_037423.2 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 160kDa 1367 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 all_cancers(97;6.64e-12)|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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CAGCATGGTGGTCAGCGCGTTC 0.728 2 4 --- --- --- --- MALAT1 378938 broad.mit.edu 37 11 65268616 65268617 + RNA INS - - T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr11:65268616_65268617insT ENST00000534336.1 + 0 3384_3385 NR_002819.2 TAGATGACCTGTTTTTACTTCC 0.386 10 26 --- --- --- --- NDUFC2 4718 broad.mit.edu 37 11 77784147 77784147 + Frame_Shift_Del DEL A A - TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr11:77784147delA ENST00000281031.4 - 2 681 c.207delT c.(205-207)tttfs p.F69fs NDUFC2_ENST00000525085.1_Intron|NDUFC2_ENST00000527806.1_Frame_Shift_Del_p.F69fs|NDUFC2_ENST00000534029.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2_ENST00000528164.1_Frame_Shift_Del_p.F69fs|NDUFC2-KCTD14_ENST00000530054.1_Frame_Shift_Del_p.F69fs NM_001204055.1|NM_004549.5 NP_001190984.1|NP_004540.1 NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa p.F69fs*7(1) large_intestine(1)|lung(2)|prostate(1) 4 all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;2.15e-25) AATATCCAGCAAAAAAAAAGG 0.358 7 89 --- --- --- --- CSPG4P5 114817 broad.mit.edu 37 15 84958415 84958426 + RNA DEL CGAGGACATTGG CGAGGACATTGG - TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr15:84958415_84958426delCGAGGACATTGG ENST00000558801.1 - 0 6303_6314 TCGGGCACCACGAGGACATTGGTGAGGACAGG 0.557 2 4 --- --- --- --- RP11-19N8.4 0 broad.mit.edu 37 16 33070209 33070209 + RNA DEL C C - TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr16:33070209delC ENST00000561541.1 - 0 291 CATTATTTTGCCCCCCCGTCG 0.582 2 4 --- --- --- --- STAT5A 6776 broad.mit.edu 37 17 40453382 40453393 + In_Frame_Del DEL TGAACGTGCACA TGAACGTGCACA - TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr17:40453382_40453393delTGAACGTGCACA ENST00000345506.4 + 10 1721_1732 c.1079_1090delTGAACGTGCACA c.(1078-1092)ctgaacgtgcacatg>ctg p.NVHM361del STAT5A_ENST00000590949.1_In_Frame_Del_p.NVHM361del|STAT5A_ENST00000588868.1_In_Frame_Del_p.NVHM361del|STAT5A_ENST00000452307.2_In_Frame_Del_p.NVHM361del|STAT5A_ENST00000546010.2_In_Frame_Del_p.NVHM331del NM_003152.3 NP_003143.2 P42229 STA5A_HUMAN signal transducer and activator of transcription 5A 361 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) GGCGGGAAGCTGAACGTGCACATGAATCCCCC 0.557 7 84 --- --- --- --- ZNF563 147837 broad.mit.edu 37 19 12430217 12430217 + Frame_Shift_Del DEL A A - TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d4e5554-0dc1-4dcc-8399-37844b0e1eaa d76a147b-e76e-4150-b43d-8c92ebd3fc00 g.chr19:12430217delA ENST00000293725.5 - 4 827 c.622delT c.(622-624)tggfs p.W208fs ZNF563_ENST00000595977.1_Intron NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 AAACTGGGCCAAAAAAAAGCT 0.393 7 141 --- --- --- ---