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 SYT11 23208 broad.mit.edu 37 1 155851027 155851027 + Missense_Mutation SNP C C T TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr1:155851027C>T ENST00000368324.4 + 4 1277 c.1024C>T c.(1024-1026)Cgc>Tgc p.R342C SYT11_ENST00000539162.1_Missense_Mutation_p.R35C NM_152280.4 NP_689493.3 Q9BT88 SYT11_HUMAN synaptotagmin XI 342 C2 2. cell junction|synaptic vesicle membrane protein binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) CGGCAGAAAGCGCATTGCCAA 0.468000 26 233 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038567 75038567 + Missense_Mutation SNP C C T TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr1:75038567C>T ENST00000326665.5 - 14 3045 c.2827G>A c.(2827-2829)Gga>Aga p.G943R C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 943 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCACTTTCTCCGACATCACTC 0.547000 10 130 0 0 1 0 0 IFT27 11020 broad.mit.edu 37 22 37163883 37163883 + Missense_Mutation SNP C C T TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr22:37163883C>T ENST00000340630.5 - 2 500 c.55G>A c.(55-57)Gcc>Acc p.A19T IFT27_ENST00000433985.2_Missense_Mutation_p.A20T|IFT27_ENST00000453009.2_5'UTR NM_006860.4 NP_006851.1 Q9BW83 IFT27_HUMAN intraflagellar transport 27 homolog (Chlamydomonas) 20 small GTPase mediated signal transduction intraflagellar transport particle B|microtubule-based flagellum GTP binding endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 TGTGCCAGGGCGGTCTTGCCC 0.512000 13 218 0 0 1 0 0 NEU2 4759 broad.mit.edu 37 2 233899740 233899740 + Silent SNP C C A TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr2:233899740C>A ENST00000233840.3 + 2 1116 c.1116C>A c.(1114-1116)gcC>gcA p.A372A NM_005383.2 NP_005374.2 Q9Y3R4 NEUR2_HUMAN sialidase 2 (cytosolic sialidase) 372 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) TGAAGCAAGCCTTCCCAGCTG 0.597000 7 136 5.18039e-06 5.68172e-06 1 1 0 USP48 84196 broad.mit.edu 37 1 22074643 22074643 + Missense_Mutation SNP A A C TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr1:22074643A>C ENST00000308271.9 - 7 1544 c.896T>G c.(895-897)tTt>tGt p.F299C USP48_ENST00000421625.2_Missense_Mutation_p.F299C|USP48_ENST00000400301.1_Missense_Mutation_p.F299C|USP48_ENST00000529637.1_Missense_Mutation_p.F299C NM_032236.5 NP_115612.4 Q86UV5 UBP48_HUMAN ubiquitin specific peptidase 48 299 ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) GTCAAAGACAAAACGCATTAG 0.368000 3 47 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152276820 152276820 + Missense_Mutation SNP G G C TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr1:152276820G>C ENST00000368799.1 - 3 10577 c.10542C>G c.(10540-10542)gaC>gaG p.D3514E FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3514 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCTAGAGCTGTCCGCCTGAG 0.567000 Ichthyosis 15 281 0 0 1 0 0 FCGR2A 2212 broad.mit.edu 37 1 161480636 161480636 + Missense_Mutation SNP G G T TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr1:161480636G>T ENST00000271450.6 + 5 670 c.632G>T c.(631-633)gGc>gTc p.G211V FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000367972.4_Missense_Mutation_p.G210V NM_001136219.1|NM_021642.3 NP_001129691.1|NP_067674.2 P12318 FCG2A_HUMAN Fc fragment of IgG, low affinity IIa, receptor (CD32) 211 integral to membrane|plasma membrane IgG binding|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1) 19 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CCCAGCATGGGCAGCTCTTCA 0.512000 7 114 0.0293803 0.0293803 1 1 0 RBM17 84991 broad.mit.edu 37 10 6157238 6157238 + Missense_Mutation SNP T T C TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr10:6157238T>C ENST00000446108.1 + 11 1710 c.1066T>C c.(1066-1068)Ttt>Ctt p.F356L RBM17_ENST00000379888.4_Missense_Mutation_p.F356L|RBM17_ENST00000476706.1_3'UTR NM_001145547.1 NP_001139019.1 Q96I25 SPF45_HUMAN RNA binding motif protein 17 356 RRM. mRNA processing|RNA splicing spliceosomal complex nucleotide binding|protein binding|RNA binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2) 19 AGTACGGATATTTTTAGAATT 0.343000 3 24 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186106992 186106992 + Silent SNP C C T TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr1:186106992C>T ENST00000271588.4 + 89 14041 c.13812C>T c.(13810-13812)cgC>cgT p.R4604R HMCN1_ENST00000367492.2_Silent_p.R4604R NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4604 TSP type-1 2. response to stimulus|visual perception basement membrane calcium ion binding p.R4604R(1) 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 GCTGTGGACGCGGCAACCAAA 0.463000 5 95 0 0 1 0 0 MATN1 4146 broad.mit.edu 37 1 31189120 31189120 + Silent SNP G G A TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr1:31189120G>A ENST00000373765.4 - 5 878 c.843C>T c.(841-843)gaC>gaT p.D281D MATN1_ENST00000477320.1_5'UTR NM_002379.3 NP_002370.1 P21941 MATN1_HUMAN matrilin 1, cartilage matrix protein 281 VWFA 2. protein complex assembly proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649) TCTTGGATCCGTCAATGAGGA 0.557000 4 45 0 0 1 0 0 TBC1D2 55357 broad.mit.edu 37 9 100970983 100970983 + Missense_Mutation SNP T T G TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr9:100970983T>G ENST00000375066.5 - 9 2208 c.2117A>C c.(2116-2118)aAc>aCc p.N706T TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.N488T|TBC1D2_ENST00000375064.1_Missense_Mutation_p.N706T|TBC1D2_ENST00000375063.1_Missense_Mutation_p.N246T NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 706 Rab-GAP TBC. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) GATGGTGGGGTTCTGCCAGGA 0.602000 4 49 0 0 1 0 0 DDX27 55661 broad.mit.edu 37 20 47850144 47850144 + Missense_Mutation SNP C C T TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr20:47850144C>T ENST00000371764.4 + 11 1273 c.1264C>T c.(1264-1266)Cgg>Tgg p.R422W DDX27_ENST00000484427.1_3'UTR NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 422 Helicase ATP-binding. nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GAATCCTGTCCGGATATTTGT 0.547000 8 174 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 4 32 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 5 34 0 0 1 0 0 ZCCHC4 29063 broad.mit.edu 37 4 25314511 25314511 + Missense_Mutation SNP T T C TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr4:25314511T>C ENST00000302874.4 + 1 104 c.80T>C c.(79-81)gTg>gCg p.V27A ZCCHC4_ENST00000505451.1_3'UTR NM_024936.2 NP_079212.2 Q9H5U6 ZCHC4_HUMAN zinc finger, CCHC domain containing 4 27 methyltransferase activity|nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1) 9 Breast(46;0.0503) GGAATGGAGGTGGTGCTTCCT 0.672000 OREG0016141 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 100 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 4 28 0 0 1 0 0 GATAD2A 54815 broad.mit.edu 37 19 19576172 19576172 + Silent SNP C C T TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr19:19576172C>T ENST00000404158.1 + 4 436 c.18C>T c.(16-18)tgC>tgT p.C6C GATAD2A_ENST00000252577.5_Silent_p.C6C|GATAD2A_ENST00000358713.3_Silent_p.C6C|GATAD2A_ENST00000360315.3_Silent_p.C6C|GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000494516.1_3'UTR Q86YP4 P66A_HUMAN GATA zinc finger domain containing 2A 6 DNA methylation|negative regulation of transcription, DNA-dependent nuclear speck|NuRD complex protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 AAGAAGCATGCCGAACACGGA 0.473000 4 49 0 0 1 0 0 DHX8 1659 broad.mit.edu 37 17 41582116 41582116 + Missense_Mutation SNP G G A TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr17:41582116G>A ENST00000262415.3 + 12 1723 c.1651G>A c.(1651-1653)Gga>Aga p.G551R DHX8_ENST00000540306.1_Missense_Mutation_p.G551R NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 551 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) AGCCTCTTACGGAAAAAAGAC 0.478000 9 118 0 0 1 0 0 RSPO1 284654 broad.mit.edu 37 1 38082185 38082185 + Missense_Mutation SNP G G A TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr1:38082185G>A ENST00000356545.2 - 5 1044 c.257C>T c.(256-258)gCc>gTc p.A86V RSPO1_ENST00000401070.1_Missense_Mutation_p.A86V|RSPO1_ENST00000401071.2_Missense_Mutation_p.A86V|RSPO1_ENST00000373059.1_Missense_Mutation_p.A59V|RSPO1_ENST00000401068.1_Missense_Mutation_p.A86V|RSPO1_ENST00000401069.1_Missense_Mutation_p.A86V NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 86 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGGGTTGCGGGCGTCGAAGTA 0.612000 5 68 0 0 1 0 0 GTSE1 51512 broad.mit.edu 37 22 46724668 46724668 + Missense_Mutation SNP G G A TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr22:46724668G>A ENST00000454366.1 + 10 2020 c.1808G>A c.(1807-1809)cGt>cAt p.R603H NM_016426.6 NP_057510.4 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 584 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) CCTCCTTCCCGTGTGCCTCAG 0.517000 4 111 0 0 1 0 0 EPO 2056 broad.mit.edu 37 7 100320666 100320666 + Silent SNP T T G TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr7:100320666T>G ENST00000252723.2 + 5 673 c.492T>G c.(490-492)acT>acG p.T164T NM_000799.2 NP_000790.2 P01588 EPO_HUMAN erythropoietin 164 blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction extracellular space erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1) 12 Lung NSC(181;0.041)|all_lung(186;0.0581) Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) CTGCTGACACTTTCCGCAAAC 0.572000 7 149 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162555 90162555 + RNA SNP C C T TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr16:90162555C>T ENST00000564451.1 + 0 1908 TUBB8P7_ENST00000567960.1_RNA ATGCCACGGCCGAGGAGGAGG 0.522000 4 95 0 0 1 0 0 INTS4L1 0 broad.mit.edu 37 7 64639752 64639752 + RNA SNP A A T TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr7:64639752A>T ENST00000587624.1 + 0 635 TTGATTTCCTAGTTGACATGT 0.443000 3 5 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 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 7 38 0 0 1 0 0 MAPKAP1 79109 broad.mit.edu 37 9 128268595 128268595 + Missense_Mutation SNP C C G TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr9:128268595C>G ENST00000265960.3 - 8 1392 c.1060G>C c.(1060-1062)Gag>Cag p.E354Q MAPKAP1_ENST00000373511.2_Missense_Mutation_p.E354Q|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.E162Q|MAPKAP1_ENST00000350766.3_Intron|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.E354Q|MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.E162Q NM_001006617.1 NP_001006618.1 Q9BPZ7 SIN1_HUMAN mitogen-activated protein kinase associated protein 1 354 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane Ras GTPase binding endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3) 23 GTACTGTTCTCGCGGACCAGG 0.577000 3 53 0 0 1 0 0 HYAL1 3373 broad.mit.edu 37 3 50340316 50340316 + Silent SNP G G T TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr3:50340316G>T ENST00000266031.4 - 1 687 c.72C>A c.(70-72)ggC>ggA p.G24G HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000395144.2_Silent_p.G24G|HYAL1_ENST00000320295.8_Silent_p.G24G|HYAL1_ENST00000395143.2_Silent_p.G24G|HYAL1_ENST00000457214.2_Intron Q12794 HYAL1_HUMAN hyaluronoglucosaminidase 1 24 extracellular space|lysosome hyalurononglucosaminidase activity cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) Hyaluronidase(DB00070) GTAGCAAGGGGCCCCTAAAGC 0.612000 4 53 0.000602214 0.000620463 1 1 0 WASH3P 0 broad.mit.edu 37 15 102516424 102516424 + RNA SNP G G T TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr15:102516424G>T ENST00000557932.1 + 0 1372 p.P449P(4) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGCCGCCACCGCAGCAGCCAC 0.647000 3 44 0.000602214 0.000620463 1 1 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 32 0 0 1 0 0 PCDHB15 0 broad.mit.edu 37 5 140626461 140626461 + Missense_Mutation SNP G G A TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr5:140626461G>A ENST00000231173.3 + 1 1315 c.1315G>A c.(1315-1317)Gtg>Atg p.V439M NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 439 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGCATAACCGTGCTGGTGTC 0.592000 7 133 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 3 32 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237991726 237991726 + Frame_Shift_Del DEL A A - TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr1:237991726delA ENST00000366574.2 + 102 14953 c.14636delA c.(14635-14637)cafs p.Q4879fs RYR2_ENST00000542537.1_Frame_Shift_Del_p.Q4863fs|RYR2_ENST00000360064.6_Frame_Shift_Del_p.Q4885fs NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4879 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAACAGGAACAAGTCAAAGAA 0.363 2 4 --- --- --- --- RP11-586K2.1 0 broad.mit.edu 37 8 89498122 89498122 + RNA DEL A A - TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2f45990-6e87-46f9-893c-8db4e8eec983 42a1f7a6-b577-4000-9a4f-c6cd38462317 g.chr8:89498122delA ENST00000521433.1 + 0 179 RP11-586K2.1_ENST00000523254.1_RNA aacagctatgaaaaaaaaaac 0.383 2 4 --- --- --- ---