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 ZNF283 284349 broad.mit.edu 37 19 44352689 44352689 + Missense_Mutation SNP A A G TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:44352689A>G ENST00000324461.7 + 7 2233 c.1936A>G c.(1936-1938)Aga>Gga p.R646G ZNF283_ENST00000588797.1_Missense_Mutation_p.R507G NM_181845.1 NP_862828.1 Q8N7M2 ZN283_HUMAN zinc finger protein 283 646 R -> I (in dbSNP:rs10417624). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R646G(1) endometrium(1)|large_intestine(3)|lung(4) 8 Prostate(69;0.0352) TGTTCATGAGAGAACTCATAG 0.368000 5 132 0 0 0.000157383 0 0 ARHGEF37 389337 broad.mit.edu 37 5 149011707 149011707 + Missense_Mutation SNP G G C TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:149011707G>C ENST00000333677.6 + 13 2144 c.1981G>C c.(1981-1983)Gcc>Ccc p.A661P NM_001001669.2 NP_001001669.2 A1IGU5 ARH37_HUMAN Rho guanine nucleotide exchange factor (GEF) 37 661 SH3 2. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity p.A661P(1) large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3) 17 TGGCTTCTTGGCCAGGGCTCG 0.592000 3 93 0 0 0.00024832 0 0 GPR17 0 broad.mit.edu 37 2 128408804 128408804 + Silent SNP G G A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:128408804G>A ENST00000544369.1 + 4 1190 c.579G>A c.(577-579)ccG>ccA p.P193P LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000393018.3_Silent_p.P193P|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000272644.3_Silent_p.P193P NM_001161415.1 NP_001154887.1 Q13304 GPR17_HUMAN G protein-coupled receptor 17 193 integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled p.P193P(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1) 19 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) CCATGGCCCCGCTGCTGGTGA 0.667000 45 106 0 0 0.000147903 0 0 MRGPRX3 117195 broad.mit.edu 37 11 18159642 18159642 + Missense_Mutation SNP C C T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:18159642C>T ENST00000396275.2 + 3 1254 c.893C>T c.(892-894)aCg>aTg p.T298M NM_054031.3 NP_473372.3 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 298 integral to membrane|plasma membrane G-protein coupled receptor activity p.T298M(1) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 CTGCAGGACACGCCTGAGGTG 0.562000 10 80 0 0 0.000566183 0 0 SRPRB 58477 broad.mit.edu 37 3 133525537 133525537 + Missense_Mutation SNP T T G TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:133525537T>G ENST00000466490.2 + 3 524 c.239T>G c.(238-240)cTc>cGc p.L80R NM_021203.3 NP_067026.3 Q9Y5M8 SRPRB_HUMAN signal recognition particle receptor, B subunit 80 endoplasmic reticulum membrane|integral to membrane GTP binding|protein binding|receptor activity p.L80R(1) breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2) 12 AAAACGTTGCTCTTTGTCAGG 0.403000 21 165 0 0 0.000132079 0 0 ZHX2 22882 broad.mit.edu 37 8 123964946 123964946 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:123964946G>T ENST00000314393.4 + 3 2031 c.1196G>T c.(1195-1197)gGa>gTa p.G399V NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 399 Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G399V(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) GCCGTGGCAGGAGTCACCAAC 0.627000 25 57 5.61819e-17 1.237e-15 0.000117367 1 0 SDK1 221935 broad.mit.edu 37 7 3990604 3990604 + Silent SNP G G A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:3990604G>A ENST00000404826.2 + 6 1036 c.897G>A c.(895-897)ccG>ccA p.P299P SDK1_ENST00000389531.3_Silent_p.P299P NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 299 Ig-like C2-type 3. cell adhesion integral to membrane p.P299P(1) NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TGGTTCCCCCGGGCAACAGAA 0.522000 36 68 0 0 0.000125731 0 0 IGDCC4 57722 broad.mit.edu 37 15 65685846 65685846 + Nonsense_Mutation SNP G G A rs138576438 TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:65685846G>A ENST00000352385.2 - 10 1947 c.1738C>T c.(1738-1740)Cga>Tga p.R580* NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 580 Fibronectin type-III 2. integral to membrane|plasma membrane p.R580*(1) NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 TCATTTCCTCGCACCTCAGTA 0.552000 32 83 0 0 0.00058488 0 0 STAT3 6774 broad.mit.edu 37 17 40474448 40474448 + Silent SNP A A G TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:40474448A>G ENST00000264657.5 - 21 2265 c.1953T>C c.(1951-1953)gcT>gcC p.A651A STAT3_ENST00000404395.3_Silent_p.A651A|STAT3_ENST00000389272.3_Silent_p.A553A|STAT3_ENST00000588969.1_Silent_p.A651A|STAT3_ENST00000585517.1_Silent_p.A651A NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 651 SH2. cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding p.A651A(1) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) TGATGATTTCAGCAAATGACA 0.473000 Hyperimmunoglobulin E Recurrent Infection Syndrome 98 239 0 0 0.000147903 0 0 FAM47B 170062 broad.mit.edu 37 X 34962549 34962549 + Missense_Mutation SNP C C T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chrX:34962549C>T ENST00000329357.5 + 1 1637 c.1601C>T c.(1600-1602)gCg>gTg p.A534V NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 534 p.A534V(2) breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 AGACGCCGGGCGGCACCGCAT 0.502000 16 57 0 0 0.000566183 0 0 GAA 2548 broad.mit.edu 37 17 78079689 78079689 + Missense_Mutation SNP G G T rs145866792 byFrequency TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:78079689G>T ENST00000302262.3 + 3 907 c.688G>T c.(688-690)Gtg>Ttg p.V230L GAA_ENST00000390015.3_Missense_Mutation_p.V230L NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid 230 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity p.V230L(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) GGACGGCCGCGTGCTGTGAGT 0.662000 22 36 7.92952e-12 1.71528e-10 0.000586117 1 0 SLC16A4 9122 broad.mit.edu 37 1 110925493 110925493 + Missense_Mutation SNP C C G TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:110925493C>G ENST00000369779.4 - 3 432 c.183G>C c.(181-183)tgG>tgC p.W61C SLC16A4_ENST00000437429.2_Intron|LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000497687.1_Intron|SLC16A4_ENST00000472422.2_Missense_Mutation_p.W61C|SLC16A4_ENST00000369781.4_Missense_Mutation_p.W61C|SLC16A4_ENST00000541986.1_Intron NM_001201547.1|NM_004696.2 NP_001188476.1|NP_004687.1 O15374 MOT5_HUMAN solute carrier family 16, member 4 61 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity p.W61C(1) breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2) 16 all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14) Pyruvic acid(DB00119) TGGATCCAATCCAACCAATTT 0.408000 62 156 0 0 0.000147903 0 0 RPE65 6121 broad.mit.edu 37 1 68906685 68906685 + Splice_Site SNP T T C TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:68906685T>C ENST00000262340.5 - 6 549 c.e6-2 NM_000329.2 NP_000320.1 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 65kDa visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity p.?(1) central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 35 AAGATCAACCTACGGAAGTAA 0.428000 4 79 0 0 0.00024832 0 0 MUC16 94025 broad.mit.edu 37 19 8959691 8959691 + Missense_Mutation SNP G G A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:8959691G>A ENST00000397910.4 - 84 43644 c.43441C>T c.(43441-43443)Cgg>Tgg p.R14481W MUC16_ENST00000380951.5_Missense_Mutation_p.R1122W NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 22126 SEA 16. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.R14481W(1) 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 TCCTTCTTCCGCCGGCGGGTG 0.582000 8 17 0 0 0.00010058 0 0 LCE1A 353131 broad.mit.edu 37 1 152800255 152800255 + Missense_Mutation SNP G G A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:152800255G>A ENST00000335123.2 + 1 307 c.307G>A c.(307-309)Ggc>Agc p.G103S NM_178348.2 NP_848125.1 Q5T7P2 LCE1A_HUMAN late cornified envelope 1A 103 Cys-rich. keratinization p.G103S(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 8 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) AGGGGACAGCGGCCAGCACTC 0.622000 4 14 0 0 0.000442599 0 0 NCAPG2 54892 broad.mit.edu 37 7 158451099 158451099 + Splice_Site SNP T T A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:158451099T>A ENST00000409339.3 - 17 2104 c.1989_splice c.e17-1 p.D664_splice NCAPG2_ENST00000449727.2_Splice_Site_p.D664_splice|NCAPG2_ENST00000409423.1_Splice_Site_p.D664_splice|NCAPG2_ENST00000275830.10_Splice_Site_p.D456_splice|NCAPG2_ENST00000541468.1_Splice_Site_p.D165_splice|NCAPG2_ENST00000356309.3_Splice_Site_p.D664_splice Q86XI2 CNDG2_HUMAN non-SMC condensin II complex, subunit G2 664 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding p.D664V(1) NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 39 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) GCAGCGATCATCCTAAAAGCG 0.383000 14 31 0 0 0.000308642 0 0 LRCH1 23143 broad.mit.edu 37 13 47269054 47269054 + Nonsense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr13:47269054G>T ENST00000311191.6 + 9 1376 c.1147G>T c.(1147-1149)Gag>Tag p.E383* LRCH1_ENST00000389797.3_Nonsense_Mutation_p.E383*|LRCH1_ENST00000389798.3_Nonsense_Mutation_p.E383* NM_001164213.1 NP_001157685.1 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 1 383 p.E383*(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) ATTTCAACCGGAGCCTTCCCT 0.408000 84 82 7.31121e-38 1.70089e-36 0.000147903 1 0 SLITRK5 26050 broad.mit.edu 37 13 88328403 88328403 + Missense_Mutation SNP T T C TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr13:88328403T>C ENST00000325089.6 + 2 979 c.760T>C c.(760-762)Tcc>Ccc p.S254P SLITRK5_ENST00000400028.3_Intron NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 254 LRRCT 1. integral to membrane p.S254P(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GGACAGCATCTCCTATTCAGC 0.507000 75 242 0 0 0.000147903 0 0 LCE1C 353133 broad.mit.edu 37 1 152777624 152777624 + Missense_Mutation SNP C C T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:152777624C>T ENST00000368768.1 - 2 381 c.331G>A c.(331-333)Ggc>Agc p.G111S LCE1C_ENST00000607093.1_Missense_Mutation_p.G111S NM_178351.3 NP_848128.1 Q5T751 LCE1C_HUMAN late cornified envelope 1C 111 Gly-rich. keratinization p.G111S(1) NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1) 9 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GAGTGCTGGCCACTCCCCCCG 0.657000 14 39 0 0 0.000132079 0 0 FAM126B 285172 broad.mit.edu 37 2 201846109 201846109 + Nonsense_Mutation SNP G G A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:201846109G>A ENST00000418596.2 - 12 1664 c.1477C>T c.(1477-1479)Cag>Tag p.Q493* AC005037.3_ENST00000413848.1_RNA NM_173822.3 NP_776183.1 Q8IXS8 F126B_HUMAN family with sequence similarity 126, member B 493 intracellular p.Q493*(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 CGGTCTTCCTGCAGACTGACA 0.512000 33 60 0 0 0.000279167 0 0 SKA1 220134 broad.mit.edu 37 18 47906549 47906549 + Missense_Mutation SNP G G A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr18:47906549G>A ENST00000285116.3 + 3 353 c.142G>A c.(142-144)Gta>Ata p.V48I SKA1_ENST00000417656.2_Missense_Mutation_p.V48I|SKA1_ENST00000398452.2_Missense_Mutation_p.V48I|SKA1_ENST00000488454.1_Intron NM_001039535.2|NM_145060.3 NP_001034624.1|NP_659497.1 Q96BD8 SKA1_HUMAN spindle and kinetochore associated complex subunit 1 48 cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytosol|spindle microtubule microtubule binding p.V48I(1) breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1) 13 TGAGATCATTGTAATAAATGA 0.289000 79 151 0 0 0.000147903 0 0 LINC00264 0 broad.mit.edu 37 10 26880338 26880338 + RNA SNP G G C rs3118888 by1000genomes TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:26880338G>C ENST00000412114.1 + 0 573 NR_026793.1 GCTGAAACATGGAAGGTAAAA 0.483000 3 31 0 0 6.4e-05 0 0 RP11-383M4.6 0 broad.mit.edu 37 9 84547870 84547870 + RNA SNP T T C rs138226188 by1000genomes TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:84547870T>C ENST00000585776.1 - 0 1039 SPATA31D4_ENST00000341875.4_RNA CGTGAACCCATAGAAATCTTC 0.428000 4 17 0 0 0.00024832 0 0 TRIM49 57093 broad.mit.edu 37 11 89531568 89531568 + Silent SNP T T C rs139075721 by1000genomes TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:89531568T>C ENST00000329758.1 - 8 1417 c.1089A>G c.(1087-1089)aaA>aaG p.K363K TRIM49_ENST00000532501.2_Silent_p.K286K NM_020358.2 NP_065091.1 P0CI25 TRI49_HUMAN tripartite motif containing 49 363 B30.2/SPRY. intracellular zinc ion binding p.K363K(3) breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1) 27 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) GATTCTTCTCTTTCCGATACA 0.458000 6 225 0 0 3.59834e-05 0 0 FER1L6 654463 broad.mit.edu 37 8 125072891 125072891 + Missense_Mutation SNP G G A rs138376786 byFrequency TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:125072891G>A ENST00000522917.1 + 24 3294 c.3088G>A c.(3088-3090)Gtg>Atg p.V1030M FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.V1030M NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1030 integral to membrane p.V1030M(2) NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GAAGTCCTGCGTGATCCAGAG 0.547000 8 137 0 0 0.000274275 0 0 PAPLN 89932 broad.mit.edu 37 14 73731013 73731013 + Missense_Mutation SNP G G A rs145618706 TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:73731013G>A ENST00000427855.1 + 21 3058 c.2956G>A c.(2956-2958)Gac>Aac p.D986N PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000381166.3_Missense_Mutation_p.D986N|PAPLN_ENST00000340738.5_Missense_Mutation_p.D959N|PAPLN_ENST00000555445.1_Missense_Mutation_p.D970N|PAPLN_ENST00000554301.1_Missense_Mutation_p.D986N O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 986 Ig-like C2-type 1. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding p.D986N(1)|p.D959N(1) NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) GCCAGGCCGCGACTCCCAGAA 0.647000 16 38 0 0 0.00047179 0 0 CRNN 49860 broad.mit.edu 37 1 152382359 152382359 + Missense_Mutation SNP G G A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:152382359G>A ENST00000271835.3 - 3 1261 c.1199C>T c.(1198-1200)cCg>cTg p.P400L RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 400 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding p.P400L(1) breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTGTCCTCCCGGTACTGTCTC 0.612000 50 105 0 0 0.000147903 0 0 PI4KAP2 0 broad.mit.edu 37 22 21829507 21829507 + RNA SNP G G A rs140118179 by1000genomes TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr22:21829507G>A ENST00000450651.1 - 0 1831 endometrium(3)|urinary_tract(1) 4 TACTTCAAGAGCTTGATTGTC 0.542000 5 10 0 0 1.23904e-05 0 0 LRIT2 340745 broad.mit.edu 37 10 85981837 85981837 + Missense_Mutation SNP G G A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:85981837G>A ENST00000372113.4 - 3 1497 c.1492C>T c.(1492-1494)Cgc>Tgc p.R498C LRIT2_ENST00000538192.1_Missense_Mutation_p.R508C NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 498 integral to membrane p.R498C(1) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 AGACAGCCGCGCAGGACCCAC 0.637000 38 87 0 0 0.000374591 0 0 RNF17 56163 broad.mit.edu 37 13 25416253 25416253 + Missense_Mutation SNP A A G TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr13:25416253A>G ENST00000255324.5 + 19 2609 c.2557A>G c.(2557-2559)Att>Gtt p.I853V RNF17_ENST00000381921.1_Missense_Mutation_p.I853V NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 853 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding p.I853V(1) NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TACTACTAGTATTAATGACCA 0.343000 55 127 0 0 0.000147903 0 0 CPSF3 51692 broad.mit.edu 37 2 9595849 9595849 + Silent SNP C C G TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:9595849C>G ENST00000460593.1 + 13 2593 c.1455C>G c.(1453-1455)ccC>ccG p.P485P CPSF3_ENST00000238112.3_Silent_p.P522P Q9UKF6 CPSF3_HUMAN cleavage and polyadenylation specific factor 3, 73kDa 522 histone mRNA 3'-end processing|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|ribonucleoprotein complex 5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding p.P522P(1) NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308) all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644) ATACTGGTCCCTTTAATTTGC 0.383000 14 121 0 0 0.000422831 0 0 PROKR1 10887 broad.mit.edu 37 2 68882252 68882252 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:68882252G>T ENST00000303786.3 + 3 1146 c.726G>T c.(724-726)gtG>gtT p.V242V PROKR1_ENST00000394342.2_Silent_p.V242V Q8TCW9 PKR1_HUMAN prokineticin receptor 1 242 integral to membrane|plasma membrane neuropeptide Y receptor activity p.V242V(1) endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TAGAATTCGTGGGCCCCGTGG 0.557000 32 86 9.78306e-22 2.19319e-20 0.000279167 1 0 ANKRD36 375248 broad.mit.edu 37 2 97869931 97869931 + Missense_Mutation SNP A A T rs76309140 TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:97869931A>T ENST00000420699.2 + 50 3236 c.2992A>T c.(2992-2994)Aca>Tca p.T998S ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 998 p.T998S(13) endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 CATTCAGGCTACAAGTGATGA 0.289000 5 33 0 0 3.59834e-05 0 0 GJA5 2702 broad.mit.edu 37 1 147230995 147230995 + Missense_Mutation SNP G G A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:147230995G>A ENST00000271348.2 - 2 513 c.352C>T c.(352-354)Cgg>Tgg p.R118W GJA5_ENST00000369237.1_Missense_Mutation_p.R118W NM_005266.5|NM_181703.2 NP_005257.2|NP_859054.1 P36382 CXA5_HUMAN gap junction protein, alpha 5, 40kDa 118 angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane p.R118W(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 20 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) CCAGAGCCCCGGACCTCTTTG 0.622000 53 149 0 0 0.000147903 0 0 PTGFRN 5738 broad.mit.edu 37 1 117529548 117529548 + Missense_Mutation SNP C C T rs140355100 TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:117529548C>T ENST00000393203.2 + 9 2746 c.2599C>T c.(2599-2601)Cgg>Tgg p.R867W NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 867 endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding p.R867W(1) NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) TCAGGAGACACGGCGCGAGCG 0.617000 56 108 0 0 0.000147903 0 0 MYH15 22989 broad.mit.edu 37 3 108117984 108117984 + Missense_Mutation SNP A A T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:108117984A>T ENST00000273353.3 - 35 4983 c.4927T>A c.(4927-4929)Tgt>Agt p.C1643S NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1643 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.C1643S(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CGGTTGGCACAGCTAAGCTGG 0.488000 66 96 0 0 0.000147903 0 0 TPR 7175 broad.mit.edu 37 1 186289546 186289546 + Missense_Mutation SNP G G A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:186289546G>A ENST00000367478.3 - 46 6762 c.6466C>T c.(6466-6468)Ccg>Tcg p.P2156S NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 2156 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity p.P2156S(2)|p.P2143S(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) GCAACCTGCGGCGAACTAAAT 0.398000 T NTRK1 papillary thyroid 14 63 0 0 0.000422831 0 0 CLEC5A 23601 broad.mit.edu 37 7 141635653 141635653 + Silent SNP T T C TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:141635653T>C ENST00000546910.1 - 5 502 c.306A>G c.(304-306)aaA>aaG p.K102K CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000551012.2_Silent_p.K79K|CLEC5A_ENST00000438351.1_Silent_p.K79K|CLEC5A_ENST00000439991.1_Intron NM_013252.2 NP_037384.1 Q9NY25 CLC5A_HUMAN C-type lectin domain family 5, member A 102 C-type lectin. anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development cell surface|integral to plasma membrane sugar binding|viral receptor activity p.K102K(1) endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 10 Melanoma(164;0.0171) ATGTGGATCCTTTTCCTTTGC 0.448000 43 168 0 0 0.000589545 0 0 ABCA4 24 broad.mit.edu 37 1 94514475 94514475 + Missense_Mutation SNP C C T rs61749441 byFrequency TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:94514475C>T ENST00000370225.3 - 18 2778 c.2692G>A c.(2692-2694)Gag>Aag p.E898K ABCA4_ENST00000535735.1_Missense_Mutation_p.E824K NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 898 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances p.E898K(1) NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GTTAGGGGCTCGGTCTTTTCC 0.517000 14 171 0 0 7.07596e-05 0 0 COL1A1 1277 broad.mit.edu 37 17 48264184 48264184 + Missense_Mutation SNP C C T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:48264184C>T ENST00000225964.5 - 48 3749 c.3631G>A c.(3631-3633)Gat>Aat p.D1211N NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 1211 Nonhelical region (C-terminal). axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding p.D1211N(1) COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) CGGCCACCATCGTGAGCCTTC 0.637000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 45 122 0 0 0.000147903 0 0 COL22A1 169044 broad.mit.edu 37 8 139788238 139788238 + Nonsense_Mutation SNP G G A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:139788238G>A ENST00000303045.6 - 16 2220 c.1774C>T c.(1774-1776)Cga>Tga p.R592* COL22A1_ENST00000435777.1_Nonsense_Mutation_p.R592* NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 592 Collagen-like 3.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TTTTCACCTCGTTCTCCTTGG 0.493000 HNSCC(7;0.00092) 6 232 0 0 8.12818e-05 0 0 SCGB2A2 4250 broad.mit.edu 37 11 62038408 62038408 + Silent SNP G G C TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:62038408G>C ENST00000525380.1 + 2 170 c.111G>C c.(109-111)gtG>gtC p.V37V SCGB2A2_ENST00000227918.2_Silent_p.V37V Q13296 SG2A2_HUMAN secretoglobin, family 2A, member 2 37 extracellular region steroid binding p.V37V(1) large_intestine(1)|lung(4)|ovary(1)|prostate(1) 7 ATCCACAAGTGTCTAAGACTG 0.418000 55 128 0 0 0.000147903 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58306166 58306166 + Missense_Mutation SNP G G A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:58306166G>A ENST00000249750.4 - 3 1020 c.253C>T c.(253-255)Cgc>Tgc p.R85C ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R64C|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R56C|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R85C|ALDH1A2_ENST00000559517.1_5'UTR NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 85 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity p.R85S(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) AAAGCCAGGCGGGCTGCCTGC 0.498000 7 547 0 0 0.000274275 0 0 LYST 1130 broad.mit.edu 37 1 235950607 235950607 + Silent SNP A A G TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:235950607A>G ENST00000389794.3 - 14 4929 c.4755T>C c.(4753-4755)aaT>aaC p.N1585N LYST_ENST00000389793.2_Silent_p.N1585N|LYST_ENST00000536965.1_3'UTR Q99698 LYST_HUMAN lysosomal trafficking regulator 1585 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GGAGGAAAATATTCTCCTGTG 0.418000 7 457 0 0 0.000157383 0 0 SEPSECS 51091 broad.mit.edu 37 4 25160704 25160704 + Missense_Mutation SNP T T C TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr4:25160704T>C ENST00000382103.2 - 2 212 c.140A>G c.(139-141)gAt>gGt p.D47G SEPSECS_ENST00000302922.3_Intron NM_016955.3 NP_058651.3 Q9HD40 SPCS_HUMAN Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 47 selenocysteine incorporation cytoplasm|nucleus pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding p.D47G(2) endometrium(1)|large_intestine(4)|lung(2)|stomach(1) 8 Breast(46;0.173) Pyridoxal Phosphate(DB00114) TGTACTTTCATCCCAGCCATT 0.363000 9 44 0 0 0.00047179 0 0 TGFBR1 7046 broad.mit.edu 37 9 101900330 101900330 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:101900330G>T ENST00000374994.4 + 4 881 c.764G>T c.(763-765)cGt>cTt p.R255L TGFBR1_ENST00000552516.1_Missense_Mutation_p.R259L|TGFBR1_ENST00000550253.1_Missense_Mutation_p.R186L|TGFBR1_ENST00000374990.2_Missense_Mutation_p.R178L NM_004612.2 NP_004603.1 P36897 TGFR1_HUMAN transforming growth factor, beta receptor 1 255 Protein kinase. activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding p.R255L(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 27 Acute lymphoblastic leukemia(62;0.0559) GTAATGTTACGTCATGAAAAC 0.378000 55 132 4.96213e-28 1.13302e-26 0.000147903 1 0 HNRNPR 10236 broad.mit.edu 37 1 23650124 23650124 + Silent SNP T T C TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:23650124T>C ENST00000478691.1 - 5 568 c.297A>G c.(295-297)ccA>ccG p.P99P HNRNPR_ENST00000302271.6_Silent_p.P200P|HNRNPR_ENST00000374616.3_Silent_p.P200P|HNRNPR_ENST00000606561.1_Silent_p.P61P|HNRNPR_ENST00000374612.1_Silent_p.P200P|HNRNPR_ENST00000427764.2_Silent_p.P162P|HNRNPR_ENST00000426846.2_Intron NM_001102397.1|NM_001102399.1 NP_001095867.1|NP_001095869.1 O43390 HNRPR_HUMAN heterogeneous nuclear ribonucleoprotein R 200 Asp/Glu-rich (acidic). catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding p.P200P(2) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19) GACCGGACAGTGGATCCATCA 0.443000 10 197 0 0 0.000442599 0 0 RP5-905H7.3 0 broad.mit.edu 37 7 62701951 62701952 + RNA INS - - A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:62701951_62701952insA ENST00000451381.1 - 0 55 CTTTTTTGGAGAAAAAATATAT 0.337 5 9 --- --- --- --- RP11-383M4.6 0 broad.mit.edu 37 9 84564423 84564423 + RNA DEL T T - TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:84564423delT ENST00000585776.1 - 0 942 SPATA31D3_ENST00000334208.4_RNA ACTGGGACTATTGAAGCTCAG 0.438 2 4 --- --- --- --- BTBD11 121551 broad.mit.edu 37 12 108008872 108008879 + Frame_Shift_Del DEL ACCCCGAG ACCCCGAG - rs76689600 TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:108008872_108008879delACCCCGAG ENST00000280758.5 + 7 2462_2469 c.1934_1941delACCCCGAG c.(1933-1941)cfs p.HPE645fs RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Frame_Shift_Del_p.HPE182fs|BTBD11_ENST00000490090.2_Frame_Shift_Del_p.HPE645fs|BTBD11_ENST00000420571.2_Frame_Shift_Del_p.HPE645fs NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 645 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 CCATCCGTCCACCCCGAGACCCGCCATT 0.404 11 78 --- --- --- --- RP11-863P13.2 0 broad.mit.edu 37 16 88226836 88226838 + RNA DEL GGG GGG - TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:88226836_88226838delGGG ENST00000568587.1 - 0 91 tggtggtggtggggatggtggtg 0.596 2 4 --- --- --- ---