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 NEXN 91624 broad.mit.edu 37 1 78383724 78383724 + Splice_Site SNP G G A TCGA-FK-A3SG-01A-11D-A22D-08 TCGA-FK-A3SG-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 990ad7fa-0593-423d-b23d-e97adece44c5 2d4134fe-7a6c-40bf-b28a-dace85f849a5 g.chr1:78383724G>A ENST00000330010.8 + 3 403 c.e3+1 NEXN_ENST00000334785.7_Splice_Site|NEXN_ENST00000294624.8_Splice_Site|NEXN_ENST00000457030.1_Splice_Site NM_001172309.1 NP_001165780.1 Q0ZGT2 NEXN_HUMAN nexilin (F actin binding protein) regulation of cell migration|regulation of cytoskeleton organization cytoskeleton|Z disc actin filament binding|structural constituent of muscle breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Colorectal(170;0.114) AAATTAACAGGTAAGAAGCTT 0.284000 3 64 0 0 1 0 0 IGDCC4 57722 broad.mit.edu 37 15 65676658 65676658 + Missense_Mutation SNP G G A TCGA-FK-A3SG-01A-11D-A22D-08 TCGA-FK-A3SG-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 990ad7fa-0593-423d-b23d-e97adece44c5 2d4134fe-7a6c-40bf-b28a-dace85f849a5 g.chr15:65676658G>A ENST00000352385.2 - 20 3651 c.3442C>T c.(3442-3444)Ctc>Ttc p.L1148F IGDCC4_ENST00000558048.1_5'UTR NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 1148 integral to membrane|plasma membrane 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 TGGAGATGGAGGTCAGGGTTC 0.607000 3 69 0 0 1 0 0 PRSS55 203074 broad.mit.edu 37 8 10390524 10390524 + Missense_Mutation SNP C C T TCGA-FK-A3SG-01A-11D-A22D-08 TCGA-FK-A3SG-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 990ad7fa-0593-423d-b23d-e97adece44c5 2d4134fe-7a6c-40bf-b28a-dace85f849a5 g.chr8:10390524C>T ENST00000328655.3 + 4 747 c.707C>T c.(706-708)gCc>gTc p.A236V PRSS55_ENST00000522210.1_Missense_Mutation_p.A236V|PRSS51_ENST00000523024.1_RNA NM_198464.3 NP_940866.2 Q6UWB4 PRS55_HUMAN protease, serine, 55 236 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 ATGCTGTGTGCCGGATACAAG 0.483000 3 76 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29054111 29054111 + Missense_Mutation SNP G G A TCGA-FK-A3SG-01A-11D-A22D-08 TCGA-FK-A3SG-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 990ad7fa-0593-423d-b23d-e97adece44c5 2d4134fe-7a6c-40bf-b28a-dace85f849a5 g.chr18:29054111G>A ENST00000257189.4 + 15 2212 c.2129G>A c.(2128-2130)gGc>gAc p.G710D NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 710 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TATGCCAGAGGCACAGCGGTG 0.443000 3 113 0 0 1 0 0 SRP72 6731 broad.mit.edu 37 4 57340448 57340448 + Missense_Mutation SNP G G C TCGA-FK-A3SG-01A-11D-A22D-08 TCGA-FK-A3SG-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 990ad7fa-0593-423d-b23d-e97adece44c5 2d4134fe-7a6c-40bf-b28a-dace85f849a5 g.chr4:57340448G>C ENST00000342756.5 + 5 1222 c.501G>C c.(499-501)gaG>gaC p.E167D SRP72_ENST00000504757.1_Missense_Mutation_p.E167D|SRP72_ENST00000510663.1_Missense_Mutation_p.E167D NM_006947.3 NP_008878.3 O76094 SRP72_HUMAN signal recognition particle 72kDa 167 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2) 22 Glioma(25;0.08)|all_neural(26;0.101) CCTGACAGGAGAACCTGGGCC 0.448000 6 187 0 0 1 0 0 MARK2 2011 broad.mit.edu 37 11 63668346 63668346 + Missense_Mutation SNP G G A rs146234903 TCGA-FK-A3SG-01A-11D-A22D-08 TCGA-FK-A3SG-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 990ad7fa-0593-423d-b23d-e97adece44c5 2d4134fe-7a6c-40bf-b28a-dace85f849a5 g.chr11:63668346G>A ENST00000402010.2 + 10 1562 c.983G>A c.(982-984)cGg>cAg p.R328Q MARK2_ENST00000315032.8_Missense_Mutation_p.R328Q|MARK2_ENST00000509502.2_Missense_Mutation_p.R295Q|MARK2_ENST00000350490.7_Missense_Mutation_p.R328Q|MARK2_ENST00000361128.5_Missense_Mutation_p.R328Q|MARK2_ENST00000508192.1_Missense_Mutation_p.R328Q|MARK2_ENST00000377810.3_Missense_Mutation_p.R295Q|MARK2_ENST00000425897.2_Missense_Mutation_p.R295Q|MARK2_ENST00000513765.2_Missense_Mutation_p.R295Q|MARK2_ENST00000377809.4_Missense_Mutation_p.R328Q|MARK2_ENST00000408948.3_Missense_Mutation_p.R295Q|MARK2_ENST00000502399.3_Missense_Mutation_p.R328Q|MARK2_ENST00000413835.2_Missense_Mutation_p.R328Q NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 328 UBA. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 GACCCCCGGCGGACAGGTGAG 0.547000 4 188 0 0 1 0 0 WDR11 55717 broad.mit.edu 37 10 122619684 122619684 + Missense_Mutation SNP A A G TCGA-FK-A3SG-01A-11D-A22D-08 TCGA-FK-A3SG-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 990ad7fa-0593-423d-b23d-e97adece44c5 2d4134fe-7a6c-40bf-b28a-dace85f849a5 g.chr10:122619684A>G ENST00000263461.6 + 4 662 c.416A>G c.(415-417)aAt>aGt p.N139S NM_018117.11 NP_060587.8 Q9BZH6 WDR11_HUMAN WD repeat domain 11 139 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 CACCCGCCAAATTACATTGTG 0.428000 4 85 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46279860 46279860 + Silent SNP G G A rs151060280 byFrequency TCGA-FK-A3SG-01A-11D-A22D-08 TCGA-FK-A3SG-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 990ad7fa-0593-423d-b23d-e97adece44c5 2d4134fe-7a6c-40bf-b28a-dace85f849a5 g.chr20:46279860G>A ENST00000372004.3 + 20 3990 c.3774G>A c.(3772-3774)caG>caA p.Q1258Q NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1262 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.Q1262Q(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcagcaacagc 0.567000 4 56 0 0 1 0 0 ZNF324B 388569 broad.mit.edu 37 19 58966764 58966764 + Silent SNP G G C TCGA-FK-A3SG-01A-11D-A22D-08 TCGA-FK-A3SG-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 990ad7fa-0593-423d-b23d-e97adece44c5 2d4134fe-7a6c-40bf-b28a-dace85f849a5 g.chr19:58966764G>C ENST00000391696.1 + 3 1355 c.423G>C c.(421-423)tcG>tcC p.S141S ZNF324B_ENST00000545523.1_Silent_p.S151S|ZNF324B_ENST00000336614.4_Silent_p.S151S Q6AW86 Z324B_HUMAN zinc finger protein 324B 151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) TGCTAGGCTCGCGCAGTGACC 0.632000 40 65 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-FK-A3SG-01A-11D-A22D-08 TCGA-FK-A3SG-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 990ad7fa-0593-423d-b23d-e97adece44c5 2d4134fe-7a6c-40bf-b28a-dace85f849a5 g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 3 102 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70858315 70858315 + Nonsense_Mutation SNP C C T TCGA-FK-A3SG-01A-11D-A22D-08 TCGA-FK-A3SG-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 990ad7fa-0593-423d-b23d-e97adece44c5 2d4134fe-7a6c-40bf-b28a-dace85f849a5 g.chr5:70858315C>T ENST00000358731.4 + 38 7974 c.7711C>T c.(7711-7713)Caa>Taa p.Q2571* BDP1_ENST00000380675.2_3'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 2571 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TATTACTACTCAATCTGAGAA 0.348000 17 82 0 0 1 0 0 CD6 923 broad.mit.edu 37 11 60777117 60777117 + Silent SNP C C T TCGA-FK-A3SG-01A-11D-A22D-08 TCGA-FK-A3SG-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 990ad7fa-0593-423d-b23d-e97adece44c5 2d4134fe-7a6c-40bf-b28a-dace85f849a5 g.chr11:60777117C>T ENST00000313421.7 + 5 1041 c.855C>T c.(853-855)gtC>gtT p.V285V CD6_ENST00000452451.2_Silent_p.V285V|CD6_ENST00000352009.5_Silent_p.V285V|CD6_ENST00000346437.4_Silent_p.V285V|CD6_ENST00000344028.5_Silent_p.V285V|CD6_ENST00000545105.1_Intron NM_006725.4 NP_006716.3 P30203 CD6_HUMAN CD6 molecule 285 SRCR 3. cell adhesion cell surface|integral to plasma membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1) 18 TCCGAGGGGTCTGGAACACAG 0.652000 8 71 0 0 1 0 0 HPCAL1 3241 broad.mit.edu 37 2 10560174 10560174 + Silent SNP G G A TCGA-FK-A3SG-01A-11D-A22D-08 TCGA-FK-A3SG-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 990ad7fa-0593-423d-b23d-e97adece44c5 2d4134fe-7a6c-40bf-b28a-dace85f849a5 g.chr2:10560174G>A ENST00000381765.3 + 4 817 c.291G>A c.(289-291)ctG>ctA p.L97L HPCAL1_ENST00000307845.3_Silent_p.L97L NM_134421.2 NP_602293.1 P37235 HPCL1_HUMAN hippocalcin-like 1 97 EF-hand 3. calcium ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 9 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.214) GGGGCAAGCTGGAGCAGAAGC 0.637000 3 78 0 0 1 0 0 MARCH8 220972 broad.mit.edu 37 10 45954618 45954618 + Missense_Mutation SNP T T C TCGA-FK-A3SG-01A-11D-A22D-08 TCGA-FK-A3SG-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 990ad7fa-0593-423d-b23d-e97adece44c5 2d4134fe-7a6c-40bf-b28a-dace85f849a5 g.chr10:45954618T>C ENST00000453424.2 - 7 1628 c.1367A>G c.(1366-1368)tAt>tGt p.Y456C MARCH8_ENST00000395771.3_Missense_Mutation_p.Y174C|MARCH8_ENST00000319836.3_Missense_Mutation_p.Y174C|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395769.2_Missense_Mutation_p.Y174C Q5T0T0 MARH8_HUMAN membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase 174 cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(5)|lung(4) 12 AATGAGCACATACAAGGACCA 0.552000 11 172 0 0 1 0 0 DECR2 26063 broad.mit.edu 37 16 461481 461481 + Missense_Mutation SNP C C T TCGA-FK-A3SG-01A-11D-A22D-08 TCGA-FK-A3SG-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 990ad7fa-0593-423d-b23d-e97adece44c5 2d4134fe-7a6c-40bf-b28a-dace85f849a5 g.chr16:461481C>T ENST00000219481.5 + 8 920 c.782C>T c.(781-783)aCg>aTg p.T261M DECR2_ENST00000424398.2_Missense_Mutation_p.T249M|DECR2_ENST00000461947.1_Intron NM_020664.3 NP_065715.1 Q9NUI1 DECR2_HUMAN 2,4-dienoyl CoA reductase 2, peroxisomal 261 peroxisome 2,4-dienoyl-CoA reductase (NADPH) activity|binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4) 9 Hepatocellular(16;0.00015) TCCTACGTGACGGGGGCCGTG 0.632000 24 62 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-FK-A3SG-01A-11D-A22D-08 TCGA-FK-A3SG-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 990ad7fa-0593-423d-b23d-e97adece44c5 2d4134fe-7a6c-40bf-b28a-dace85f849a5 g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 3 52 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10394681 10394681 + Missense_Mutation SNP G G A TCGA-FK-A3SG-01A-11D-A22D-08 TCGA-FK-A3SG-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 990ad7fa-0593-423d-b23d-e97adece44c5 2d4134fe-7a6c-40bf-b28a-dace85f849a5 g.chr1:10394681G>A ENST00000377086.1 + 28 3230 c.3028G>A c.(3028-3030)Gta>Ata p.V1010I KIF1B_ENST00000263934.6_Missense_Mutation_p.V964I|KIF1B_ENST00000377081.1_Missense_Mutation_p.V1010I O60333 KIF1B_HUMAN kinesin family member 1B 1010 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GCGTGTGGCTGTACAGGCCAT 0.517000 4 91 0 0 1 0 0 RNF128 79589 broad.mit.edu 37 X 105970419 105970419 + Silent SNP G G T TCGA-FK-A3SG-01A-11D-A22D-08 TCGA-FK-A3SG-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 990ad7fa-0593-423d-b23d-e97adece44c5 2d4134fe-7a6c-40bf-b28a-dace85f849a5 g.chrX:105970419G>T ENST00000255499.2 + 1 526 c.276G>T c.(274-276)gcG>gcT p.A92A RNF128_ENST00000324342.3_Intron NM_194463.1 NP_919445.1 Q8TEB7 RN128_HUMAN ring finger protein 128, E3 ubiquitin protein ligase 92 PA. endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 GGCCCGGGGCGCTTAACGCCT 0.677000 6 27 0.000157383 0.000157383 1 1 0 SMPD2 6610 broad.mit.edu 37 6 109763769 109763769 + Missense_Mutation SNP G G C TCGA-FK-A3SG-01A-11D-A22D-08 TCGA-FK-A3SG-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 990ad7fa-0593-423d-b23d-e97adece44c5 2d4134fe-7a6c-40bf-b28a-dace85f849a5 g.chr6:109763769G>C ENST00000258052.3 + 6 791 c.432G>C c.(430-432)caG>caC p.Q144H NM_003080.2 NP_003071.2 O60906 NSMA_HUMAN sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) 144 induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process integral to plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2) 8 all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548) Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566) ACAATCGACAGAAGGACATCT 0.522000 4 176 0 0 1 0 0 FAM43B 163933 broad.mit.edu 37 1 20880268 20880270 + In_Frame_Del DEL GAG GAG - TCGA-FK-A3SG-01A-11D-A22D-08 TCGA-FK-A3SG-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 990ad7fa-0593-423d-b23d-e97adece44c5 2d4134fe-7a6c-40bf-b28a-dace85f849a5 g.chr1:20880268_20880270delGAG ENST00000332947.4 + 1 1337_1339 c.802_804delGAG c.(802-804)del p.E272del NM_207334.2 NP_997217.1 Q6ZT52 FA43B_HUMAN family with sequence similarity 43, member B 272 large_intestine(1)|lung(2) 3 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195) ggaggaggacgaggaggaggagg 0.744 3 6 --- --- --- --- RP11-325B23.2 0 broad.mit.edu 37 3 98031434 98031434 + RNA DEL A A - TCGA-FK-A3SG-01A-11D-A22D-08 TCGA-FK-A3SG-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 990ad7fa-0593-423d-b23d-e97adece44c5 2d4134fe-7a6c-40bf-b28a-dace85f849a5 g.chr3:98031434delA ENST00000508616.1 + 0 149 OR5H8P_ENST00000394191.2_RNA TTACAATCTTAAAAAAAAAAG 0.333 3 6 --- --- --- --- RP11-45K10.2 0 broad.mit.edu 37 8 64382847 64382849 + RNA DEL AGC AGC - TCGA-FK-A3SG-01A-11D-A22D-08 TCGA-FK-A3SG-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 990ad7fa-0593-423d-b23d-e97adece44c5 2d4134fe-7a6c-40bf-b28a-dace85f849a5 g.chr8:64382847_64382849delAGC ENST00000518739.1 + 0 2954 GAGCACCTGAagcagcagcagca 0.517 2 4 --- --- --- --- OAS1 4938 broad.mit.edu 37 12 113345000 113345001 + Frame_Shift_Del DEL TG TG - TCGA-FK-A3SG-01A-11D-A22D-08 TCGA-FK-A3SG-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 990ad7fa-0593-423d-b23d-e97adece44c5 2d4134fe-7a6c-40bf-b28a-dace85f849a5 g.chr12:113345000_113345001delTG ENST00000452357.2 + 1 346_347 c.156_157delTG c.(154-159)cctgfs p.PV52fs OAS1_ENST00000202917.5_Frame_Shift_Del_p.PV52fs|OAS1_ENST00000553185.1_Frame_Shift_Del_p.PV52fs|OAS1_ENST00000445409.2_Frame_Shift_Del_p.PV52fs|OAS1_ENST00000551241.1_Frame_Shift_Del_p.PV52fs NM_002534.2 NP_002525.2 P00973 OAS1_HUMAN 2'-5'-oligoadenylate synthetase 1, 40/46kDa 52 interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1) 16 GCTCCTACCCTGTGTGTGTGTC 0.530 7 113 --- --- --- --- ZNF598 90850 broad.mit.edu 37 16 2049882 2049883 + In_Frame_Ins INS - - TCC rs61746014 by1000genomes TCGA-FK-A3SG-01A-11D-A22D-08 TCGA-FK-A3SG-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 990ad7fa-0593-423d-b23d-e97adece44c5 2d4134fe-7a6c-40bf-b28a-dace85f849a5 g.chr16:2049882_2049883insTCC ENST00000563630.1 - 9 1744_1745 c.1502_1503insGGA c.(1501-1503)ggg>gGGAgg p.501_502insR ZNF598_ENST00000562103.1_In_Frame_Ins_p.501_502insR|ZNF598_ENST00000431526.1_In_Frame_Ins_p.556_557insR Q86UK7 ZN598_HUMAN zinc finger protein 598 556 intracellular zinc ion binding p.E555_D556insE(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 CCGGGCCGCCGTCCTCCTCCTC 0.703 4 2 --- --- --- --- RP11-640N20.8 0 broad.mit.edu 37 17 30419054 30419054 + RNA DEL C C - TCGA-FK-A3SG-01A-11D-A22D-08 TCGA-FK-A3SG-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 990ad7fa-0593-423d-b23d-e97adece44c5 2d4134fe-7a6c-40bf-b28a-dace85f849a5 g.chr17:30419054delC ENST00000581225.1 - 0 72 RP11-640N20.6_ENST00000358484.4_RNA ACCACCACCACcacacacaca 0.488 2 4 --- --- --- --- LINC00854 0 broad.mit.edu 37 17 41381913 41381914 + RNA INS - - T rs11403368 TCGA-FK-A3SG-01A-11D-A22D-08 TCGA-FK-A3SG-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 990ad7fa-0593-423d-b23d-e97adece44c5 2d4134fe-7a6c-40bf-b28a-dace85f849a5 g.chr17:41381913_41381914insT ENST00000433702.2 - 0 14 NR_047479.1 accctgatctatcatcgggagg 0.550 4 7 --- --- --- --- COL1A1 1277 broad.mit.edu 37 17 48276617 48276617 + Frame_Shift_Del DEL G G - TCGA-FK-A3SG-01A-11D-A22D-08 TCGA-FK-A3SG-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 990ad7fa-0593-423d-b23d-e97adece44c5 2d4134fe-7a6c-40bf-b28a-dace85f849a5 g.chr17:48276617delG ENST00000225964.5 - 5 559 c.441delC c.(439-441)ccfs p.P147fs NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 147 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 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) cgggaggtccggggggtccgg 0.652 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 2 4 --- --- --- ---