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 SORCS1 114815 broad.mit.edu 37 10 108389146 108389146 + Splice_Site SNP C C A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr10:108389146C>A ENST00000263054.6 - 19 2483 c.2475_splice c.e19-1 p.G826_splice SORCS1_ENST00000344440.6_Splice_Site_p.G826_splice|SORCS1_ENST00000369698.1_Splice_Site_p.G361_splice NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 826 PKD. integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TGAACATCACCCTGAAAAACA 0.517000 13 11 1.49906e-05 0.000101252 0.002450 1 0 RBM33 155435 broad.mit.edu 37 7 155530778 155530778 + Missense_Mutation SNP G G A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr7:155530778G>A ENST00000401878.3 + 11 1616 c.1418G>A c.(1417-1419)aGc>aAc p.S473N NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 473 Pro-rich. nucleotide binding|RNA binding breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) AGATTCCCGAGCCATCTTTTT 0.468000 40 116 0 0 0.008740 0 0 CA2 760 broad.mit.edu 37 8 86386612 86386612 + Silent SNP T T C TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr8:86386612T>C ENST00000285379.5 + 4 641 c.411T>C c.(409-411)ccT>ccC p.P137P NM_000067.2 NP_000058.1 P00918 CAH2_HUMAN carbonic anhydrase II 137 one-carbon metabolic process apical part of cell carbonate dehydratase activity|zinc ion binding central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1) 11 Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) TGCAGCAACCTGATGGACTGG 0.398000 7 252 0 0 0.006214 0 0 DPP6 1804 broad.mit.edu 37 7 154143335 154143335 + Missense_Mutation SNP A A G TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr7:154143335A>G ENST00000404039.1 + 2 675 c.88A>G c.(88-90)Aaa>Gaa p.K30E DPP6_ENST00000377770.3_Missense_Mutation_p.K94E|DPP6_ENST00000406326.1_Missense_Mutation_p.K94E|DPP6_ENST00000427557.1_Missense_Mutation_p.K32E|DPP6_ENST00000332007.3_Missense_Mutation_p.K32E|DPP6_ENST00000496611.1_3'UTR NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 94 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GAGGAATTGGAAAGGAATAGC 0.428000 29 85 0 0 0.002836 0 0 CD300E 342510 broad.mit.edu 37 17 72613315 72613315 + Missense_Mutation SNP C C G TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr17:72613315C>G ENST00000392619.1 - 2 446 c.411G>C c.(409-411)tgG>tgC p.W137C CD300E_ENST00000328630.3_Missense_Mutation_p.W110C|CD300E_ENST00000426295.2_Missense_Mutation_p.W151C NM_181449.2 NP_852114.2 Q496F6 CLM2_HUMAN CD300e molecule 110 integral to membrane|plasma membrane receptor activity breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 19 AATCCAGGACCCACACTGTCT 0.547000 25 106 0 0 0.006320 0 0 CHI3L2 1117 broad.mit.edu 37 1 111773481 111773481 + Missense_Mutation SNP T T G TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr1:111773481T>G ENST00000445067.2 + 5 959 c.188T>G c.(187-189)tTc>tGc p.F63C CHI3L2_ENST00000369744.2_Missense_Mutation_p.F53C|CHI3L2_ENST00000369748.4_Missense_Mutation_p.F63C|CHI3L2_ENST00000466741.1_5'UTR|CHI3L2_ENST00000524472.1_5'UTR Q15782 CH3L2_HUMAN chitinase 3-like 2 63 chitin catabolic process extracellular space cation binding|chitinase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1) 19 all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141) ATCTATTCATTCGCCAGCATC 0.463000 23 47 0 0 0.002299 0 0 DUXA 503835 broad.mit.edu 37 19 57666725 57666725 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr19:57666725G>A ENST00000554048.2 - 5 453 c.454C>T c.(454-456)Cga>Tga p.R152* NM_001012729.1 NP_001012747.1 A6NLW8 DUXA_HUMAN double homeobox A 152 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) CTAGATCTTCGATTTTGGAAC 0.383000 12 58 0 0 0.000978 0 0 ELK3 2004 broad.mit.edu 37 12 96653537 96653537 + Missense_Mutation SNP G G A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr12:96653537G>A ENST00000228741.3 + 4 1357 c.1031G>A c.(1030-1032)aGt>aAt p.S344N ELK3_ENST00000552142.1_Missense_Mutation_p.S79N|ELK3_ENST00000549529.1_3'UTR NM_005230.2 NP_005221.2 P41970 ELK3_HUMAN ELK3, ETS-domain protein (SRF accessory protein 2) 344 negative regulation of transcription, DNA-dependent|signal transduction mitochondrion protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2) 20 all_cancers(2;0.00173) CTGACTCCGAGTCCACTGCTC 0.527000 38 74 0 0 0.004289 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37729629 37729629 + Silent SNP G G A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr8:37729629G>A ENST00000330843.4 - 4 2703 c.2691C>T c.(2689-2691)gtC>gtT p.V897V RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 897 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding p.V897V(1) NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CACTCATGGGGACTTCGGAGA 0.597000 21 59 0 0 0.001523 0 0 CDH11 1009 broad.mit.edu 37 16 64984722 64984722 + Silent SNP G G T TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr16:64984722G>T ENST00000394156.3 - 12 2295 c.1842C>A c.(1840-1842)ggC>ggA p.G614G CDH11_ENST00000566827.1_Silent_p.G488G|CDH11_ENST00000268603.4_Silent_p.G614G P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 614 adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CTGTGCTCAGGCCGGCGTTCA 0.627000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 18 53 1.56452e-12 1.09517e-11 0.007413 1 0 BSN 8927 broad.mit.edu 37 3 49690423 49690423 + Missense_Mutation SNP G G A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr3:49690423G>A ENST00000296452.4 + 5 3548 c.3434G>A c.(3433-3435)cGg>cAg p.R1145Q NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1145 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GGCCCTAGCCGGCTTTACAAG 0.612000 13 66 0 0 0.001855 0 0 PPP6C 5537 broad.mit.edu 37 9 127912061 127912061 + Missense_Mutation SNP G G A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr9:127912061G>A ENST00000451402.1 - 8 1140 c.920C>T c.(919-921)tCg>tTg p.S307L PPP6C_ENST00000373547.4_Missense_Mutation_p.S270L|PPP6C_ENST00000373546.3_Missense_Mutation_p.S123L|PPP6C_ENST00000415905.1_Missense_Mutation_p.S248L NM_001123355.1 NP_001116827.1 O00743 PPP6_HUMAN protein phosphatase 6, catalytic subunit 270 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity p.S270L(1) NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 GACCATGATCGAAGCAATATT 0.408000 35 19 0 0 0.003755 0 0 ZNF609 23060 broad.mit.edu 37 15 64792343 64792343 + Missense_Mutation SNP T T C TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr15:64792343T>C ENST00000326648.3 + 1 853 c.725T>C c.(724-726)cTa>cCa p.L242P ZNF609_ENST00000416172.1_Missense_Mutation_p.L242P NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 242 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGTCGCCTGCTAAAGAAAGTC 0.517000 11 31 0 0 0.008291 0 0 MOB2 81532 broad.mit.edu 37 11 1491656 1491656 + Missense_Mutation SNP C C T TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr11:1491656C>T ENST00000329957.6 - 5 742 c.553G>A c.(553-555)Gtg>Atg p.V185M MOB2_ENST00000526462.1_5'UTR NM_001172223.1 NP_001165694.1 Q70IA6 MOB2_HUMAN MOB kinase activator 2 154 nucleus|perinuclear region of cytoplasm metal ion binding breast(1)|kidney(2)|lung(1) 4 TGTGCCAGCACGTGGAACAGG 0.582000 18 27 0 0 0.006122 0 0 C1QC 714 broad.mit.edu 37 1 22973839 22973839 + Missense_Mutation SNP C C T TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr1:22973839C>T ENST00000374639.3 + 3 419 c.301C>T c.(301-303)Ccc>Tcc p.P101S C1QC_ENST00000374637.1_Missense_Mutation_p.P101S|C1QC_ENST00000374640.4_Missense_Mutation_p.P101S NM_001114101.1 NP_001107573.1 P02747 C1QC_HUMAN complement component 1, q subcomponent, C chain 101 Collagen-like. complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation collagen endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196) 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) GGTGCCCGGCCCCATGGGCAT 0.642000 30 59 0 0 0.008361 0 0 PLXNA1 5361 broad.mit.edu 37 3 126707544 126707544 + Silent SNP T T G TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr3:126707544T>G ENST00000251772.4 + 1 108 c.39T>G c.(37-39)ggT>ggG p.G13G PLXNA1_ENST00000393409.2_Silent_p.G36G Q9UIW2 PLXA1_HUMAN plexin A1 36 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity p.G13G(4) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CAGGCGGGGGTTCACAGCCCC 0.682000 11 35 0 0 0.002299 0 0 CR1 1378 broad.mit.edu 37 1 207758161 207758161 + Missense_Mutation SNP C C T TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr1:207758161C>T ENST00000367049.4 + 33 5470 c.5470C>T c.(5470-5472)Cct>Tct p.P1824S CR1_ENST00000367052.1_Missense_Mutation_p.P1374S|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.P1374S|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.P1374S|CR1_ENST00000400960.2_Missense_Mutation_p.P1374S NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1374 Sushi 28. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CACAAGTGACCCTCATGGGAA 0.512000 7 217 0 0 0.001984 0 0 DNAH8 1769 broad.mit.edu 37 6 38830108 38830108 + Missense_Mutation SNP G G A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr6:38830108G>A ENST00000359357.3 + 42 5787 c.5533G>A c.(5533-5535)Gca>Aca p.A1845T DNAH8_ENST00000449981.2_Missense_Mutation_p.A2062T|DNAH8_ENST00000441566.1_Missense_Mutation_p.A1845T dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AGGTGCTCCCGCAGGACCTGC 0.458000 38 79 0 0 0.004878 0 0 C20orf166-AS1 253868 broad.mit.edu 37 20 61143603 61143603 + RNA SNP G G A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr20:61143603G>A ENST00000475015.1 - 0 735 C20orf166-AS1_ENST00000412495.1_RNA GGGGGCTAAGGGGCCACTTGG 0.652000 18 56 0 0 0.004990 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 27 65 0 0 0.006320 0 0 LCLAT1 253558 broad.mit.edu 37 2 30785013 30785013 + Splice_Site SNP T T C TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr2:30785013T>C ENST00000309052.4 + 5 689 c.478_splice c.e5-1 p.G160_splice LCLAT1_ENST00000540623.1_Splice_Site_p.G122_splice|LCLAT1_ENST00000379509.3_Splice_Site_p.G122_splice|LCLAT1_ENST00000359433.1_Splice_Site_p.G160_splice|LCLAT1_ENST00000319406.4_Splice_Site_p.G160_splice|LCLAT1_ENST00000491680.2_3'UTR NM_182551.3 NP_872357.2 Q6UWP7 LCLT1_HUMAN lysocardiolipin acyltransferase 1 160 multicellular organismal development|phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2) 19 TGATTCTAGGTTGGGCCATGC 0.313000 9 28 0 0 0.006214 0 0 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 7 11 0 0 0.004482 0 0 TMEM74 157753 broad.mit.edu 37 8 109796547 109796547 + Missense_Mutation SNP G G A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr8:109796547G>A ENST00000297459.3 - 2 959 c.781C>T c.(781-783)Cgt>Tgt p.R261C TMEM74_ENST00000518838.1_Intron NM_153015.1 NP_694560.1 Q96NL1 TMM74_HUMAN transmembrane protein 74 261 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) CTGTTTCGACGATAGAGCTCC 0.512000 17 51 0 0 0.004990 0 0 FGR 2268 broad.mit.edu 37 1 27939461 27939461 + Silent SNP G G A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr1:27939461G>A ENST00000374005.3 - 13 1842 c.1554C>T c.(1552-1554)tcC>tcT p.S518S FGR_ENST00000374004.1_Silent_p.S518S|FGR_ENST00000545953.1_Silent_p.S452S|FGR_ENST00000399173.1_Silent_p.S518S NM_005248.2 NP_005239.1 P09769 FGR_HUMAN feline Gardner-Rasheed sarcoma viral oncogene homolog 518 platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GTGGTTCAGCGGAGGTGAAGT 0.612000 21 35 0 0 0.001882 0 0 UGT1A8 54576 broad.mit.edu 37 2 234526363 234526363 + Missense_Mutation SNP A A G rs150485330 TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr2:234526363A>G ENST00000373450.4 + 1 73 c.10A>G c.(10-12)Aca>Gca p.T4A NM_019076.4 NP_061949.3 p.T4A(3) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008) CATGGCTCGCACAGGGTGGAC 0.562000 4 51 0 0 0.000248 0 0 TNS1 7145 broad.mit.edu 37 2 218757693 218757693 + Missense_Mutation SNP G G A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr2:218757693G>A ENST00000171887.4 - 9 837 c.385C>T c.(385-387)Cac>Tac p.H129Y TNS1_ENST00000430930.1_Missense_Mutation_p.H129Y|TNS1_ENST00000419504.1_Missense_Mutation_p.H129Y|TNS1_ENST00000310858.6_Missense_Mutation_p.H160Y NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 129 Phosphatase tensin-type. cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) TTGCTGTAGTGCATGTAAGCC 0.542000 25 82 0 0 0.005443 0 0 DDX20 11218 broad.mit.edu 37 1 112308358 112308358 + Splice_Site SNP G G A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr1:112308358G>A ENST00000475700.1 + 3 2494 c.e3-1 DDX20_ENST00000536167.1_Splice_Site|DDX20_ENST00000369702.4_Splice_Site Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding p.?(1) endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1) 21 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTTTTATGTAGATCCCATTCC 0.348000 61 107 0 0 0.003610 0 0 AHNAK 79026 broad.mit.edu 37 11 62290254 62290254 + Missense_Mutation SNP C C G TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr11:62290254C>G ENST00000378024.4 - 5 11909 c.11635G>C c.(11635-11637)Gat>Cat p.D3879H AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3879 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) AGGTTAAGATCAATGTCAGGC 0.458000 12 288 0 0 0.001368 0 0 DFNB31 25861 broad.mit.edu 37 9 117266602 117266602 + Silent SNP C C T TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr9:117266602C>T ENST00000362057.3 - 1 648 c.480G>A c.(478-480)tcG>tcA p.S160S DFNB31_ENST00000374057.3_Silent_p.S160S|DFNB31_ENST00000480518.1_5'UTR NM_001173425.1|NM_015404.3 NP_001166896.1|NP_056219.3 Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 160 PDZ 1. inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CGCCGTGCTCCGAGCCCCCAC 0.682000 38 56 0 0 0.006230 0 0 SPPL2A 84888 broad.mit.edu 37 15 51012138 51012138 + Splice_Site SNP T T A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr15:51012138T>A ENST00000261854.5 - 14 1761 c.1488_splice c.e14+1 p.Q496_splice NM_032802.3 NP_116191.2 Q8TCT8 PSL2_HUMAN signal peptide peptidase like 2A 496 integral to membrane aspartic-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 15 all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314) AGCACATACCTGATAGCTGTT 0.398000 14 48 0 0 0.001855 0 0 AMZ2P1 201283 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 5 119 0 0 0.000602 0 0 FAM217A 222826 broad.mit.edu 37 6 4069856 4069856 + Missense_Mutation SNP C C T TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr6:4069856C>T ENST00000274673.3 - 7 1004 c.601G>A c.(601-603)Gat>Aat p.D201N FAM217A_ENST00000380188.2_5'UTR NM_173563.2 NP_775834.2 Q8IXS0 CF146_HUMAN family with sequence similarity 217, member A 201 TCACTTTCATCTGTGAAATTT 0.323000 34 103 0 0 0.002445 0 0 MYO15A 51168 broad.mit.edu 37 17 18023082 18023082 + Missense_Mutation SNP C C T TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr17:18023082C>T ENST00000205890.5 + 2 1306 c.968C>T c.(967-969)tCg>tTg p.S323L NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 323 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TCGGGGTACTCGTCTCCTTAC 0.607000 21 68 0 0 0.001882 0 0 HMCN1 83872 broad.mit.edu 37 1 185704142 185704142 + Silent SNP T T A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr1:185704142T>A ENST00000271588.4 + 1 460 c.231T>A c.(229-231)ccT>ccA p.P77P HMCN1_ENST00000367492.2_Silent_p.P77P NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 77 VWFA. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CTAAAAGACCTCTTTTCAACT 0.368000 34 81 0 0 0.004878 0 0 UNC45A 55898 broad.mit.edu 37 15 91496480 91496480 + Silent SNP C C T TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr15:91496480C>T ENST00000394275.2 + 22 3307 c.2472C>T c.(2470-2472)gcC>gcT p.A824A AC068831.6_ENST00000553321.1_RNA|UNC45A_ENST00000418476.2_Silent_p.A839A NM_001039675.1 NP_001034764.1 Q9H3U1 UN45A_HUMAN unc-45 homolog A (C. elegans) 839 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) GGGCAGCTGCCGGGGGCTTGG 0.632000 35 314 0 0 0.003755 0 0 SORBS2 8470 broad.mit.edu 37 4 186545335 186545335 + Silent SNP C C T TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr4:186545335C>T ENST00000431808.1 - 14 1799 c.1236G>A c.(1234-1236)gaG>gaA p.E412E SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_Silent_p.E316E|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Silent_p.E412E|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Silent_p.E512E|SORBS2_ENST00000437304.2_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 412 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) CCTTGGAGTCCTCCTCACATA 0.592000 17 67 0 0 0.004007 0 0 TLK2 11011 broad.mit.edu 37 17 60600509 60600509 + Silent SNP A A C TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr17:60600509A>C ENST00000326270.9 + 5 506 c.238A>C c.(238-240)Agg>Cgg p.R80R TLK2_ENST00000542523.1_Silent_p.R80R|TLK2_ENST00000346027.5_Silent_p.R80R|TLK2_ENST00000343388.7_Silent_p.R80R|TLK2_ENST00000582809.1_5'UTR Q86UE8 TLK2_HUMAN tousled-like kinase 2 80 cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 AGGCACTCCTAGGGGACATAA 0.269000 4 13 0 0 0.004482 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 6 70 0 0 0.004482 0 0 HSPBP1 23640 broad.mit.edu 37 19 55785939 55785939 + Missense_Mutation SNP G G A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr19:55785939G>A ENST00000255631.5 - 5 777 c.467C>T c.(466-468)gCg>gTg p.A156V HSPBP1_ENST00000433386.2_Missense_Mutation_p.A156V|HSPBP1_ENST00000587922.1_Missense_Mutation_p.A156V|HSPBP1_ENST00000376343.3_Missense_Mutation_p.A156V NM_001130106.1|NM_012267.4 NP_001123578.1|NP_036399.3 Q9NZL4 HPBP1_HUMAN HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 159 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding enzyme inhibitor activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1) 8 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) CGCAGCCCCCGCCTCCAGGTA 0.672000 13 19 0 0 0.003163 0 0 SAMSN1 64092 broad.mit.edu 37 21 15884826 15884826 + Silent SNP C C T TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr21:15884826C>T ENST00000285670.2 - 5 726 c.552G>A c.(550-552)gaG>gaA p.E184E SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Silent_p.E116E NM_001256370.1 NP_001243299.1 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 116 SH3. negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) GGGACACCTTCTCTGTGTGGG 0.478000 61 144 0 0 0.003610 0 0 EDN3 1908 broad.mit.edu 37 20 57896118 57896118 + Missense_Mutation SNP G G A TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr20:57896118G>A ENST00000311585.7 + 3 782 c.412G>A c.(412-414)Ggc>Agc p.G138S EDN3_ENST00000337938.2_Missense_Mutation_p.G138S|EDN3_ENST00000371025.3_Missense_Mutation_p.G138S|EDN3_ENST00000371028.2_Missense_Mutation_p.G138S|EDN3_ENST00000395654.3_Missense_Mutation_p.G138S NM_207032.1 NP_996915.1 P14138 EDN3_HUMAN endothelin 3 138 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 19 all_lung(29;0.0115) AAGCTTCCGGGGCAAGAGGTC 0.597000 32 77 0 0 0.003271 0 0 FLT3 2322 broad.mit.edu 37 13 28601295 28601295 + Missense_Mutation SNP T T C TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr13:28601295T>C ENST00000380982.4 - 17 2218 c.2137A>G c.(2137-2139)Act>Gct p.T713A FLT3_ENST00000241453.7_Missense_Mutation_p.T713A|FLT3_ENST00000537084.1_Missense_Mutation_p.T713A P36888 FLT3_HUMAN fms-related tyrosine kinase 3 713 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TCTGTCCAAGTCCTGTGAAAT 0.358000 """Mis, O""" """AML, ALL""" 20 109 0 0 0.001523 0 0 DDX60 55601 broad.mit.edu 37 4 169176878 169176878 + Missense_Mutation SNP C C T TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr4:169176878C>T ENST00000393743.3 - 26 3832 c.3541G>A c.(3541-3543)Gag>Aag p.E1181K DDX60_ENST00000505393.1_5'UTR NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1181 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) TTTTGTTTCTCTATGGATTTT 0.348000 11 49 0 0 0.001368 0 0 FMN2 56776 broad.mit.edu 37 1 240255569 240255571 + In_Frame_Del DEL GGC GGC - rs71929261 TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr1:240255569_240255571delGGC ENST00000319653.9 + 1 390_392 c.160_162delGGC c.(160-162)del p.G59del NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 59 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.G197delG(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GGGGGGAgggggcggcggcggcg 0.665 11 16 --- --- --- --- THNSL2 55258 broad.mit.edu 37 2 88474921 88474922 + Splice_Site DEL GT GT - TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr2:88474921_88474922delGT ENST00000324166.5 + 3 2262 c.e3+1 THNSL2_ENST00000402102.1_Splice_Site|THNSL2_ENST00000358591.2_Splice_Site|THNSL2_ENST00000343544.4_Splice_Site|THNSL2_ENST00000377254.3_Splice_Site|THNSL2_ENST00000449349.1_Splice_Site|THNSL2_ENST00000496844.1_Splice_Site NM_018271.4 NP_060741.3 Q86YJ6 THNS2_HUMAN threonine synthase-like 2 (S. cerevisiae) threonine biosynthetic process threonine synthase activity p.?(1) breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 27 GTGTTTGGAGGTGTGTGCTGAG 0.505 16 42 --- --- --- --- GRIP2 80852 broad.mit.edu 37 3 14555758 14555759 + RNA INS - - AGTT rs10656368 by1000genomes TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr3:14555758_14555759insAGTT ENST00000273083.3 - 0 1558 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 CAGTTTCTCTCAGAGAGTGGCA 0.579 4 7 --- --- --- --- PRRC2A 7916 broad.mit.edu 37 6 31597456 31597457 + Frame_Shift_Ins INS - - C TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr6:31597456_31597457insC ENST00000376033.2 + 14 2322_2323 c.2088_2089insC c.(2086-2091)ccccccfs p.PP696fs PRRC2A_ENST00000376007.4_Frame_Shift_Ins_p.PP696fs NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 696 4 X 57 AA type A repeats.|Poly-Pro. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CACAGGCTCCACCCCCGCCCCC 0.649 8 60 --- --- --- --- CCT6P1 643253 broad.mit.edu 37 7 65226569 65226569 + RNA DEL T T - TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr7:65226569delT ENST00000442266.1 + 0 1167 gcccggccCCttttttttttt 0.413 3 4 --- --- --- --- PRSS3P2 154754 broad.mit.edu 37 7 142482025 142482025 + RNA DEL A A - TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr7:142482025delA ENST00000603901.1 + 0 591 NR_001296.3 TGCAGTGCCCACATGGAGAAG 0.572 2 4 --- --- --- --- PRDM12 59335 broad.mit.edu 37 9 133543701 133543702 + Splice_Site DEL GT GT - TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr9:133543701_133543702delGT ENST00000253008.2 + 3 630 c.e3+1 NM_021619.2 NP_067632.2 Q9H4Q4 PRD12_HUMAN PR domain containing 12 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534) OV - Ovarian serous cystadenocarcinoma(145;0.000344) GGCCATTGAGGTGTGTGTGTGT 0.594 9 80 --- --- --- --- MESP2 145873 broad.mit.edu 37 15 90320121 90320144 + In_Frame_Del DEL AGGGGCAGGGGCAAGGGCAGGGGC AGGGGCAGGGGCAAGGGCAGGGGC - rs56192595 TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC ENST00000341735.3 + 1 533_556 c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC c.(532-558)gag>g p.EGQGQGQGQ178del MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 178 Notch signaling pathway nucleus DNA binding p.Q198_G205delQGQGQGQG(1) kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg 0.777 5 9 --- --- --- --- AC008984.2 0 broad.mit.edu 37 19 54843564 54843565 + RNA INS - - C rs144647366 by1000genomes TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr19:54843564_54843565insC ENST00000507363.1 - 0 430 CGGCTGCTCCTCCCCAGGCTGC 0.723 3 4 --- --- --- --- KRTAP10-6 386674 broad.mit.edu 37 21 46012219 46012220 + In_Frame_Ins INS - - GGGGCGCAGCAGCTG rs71199613 TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0120a766-01a8-46e2-bd76-7f7a2486cfaa 637507dc-91c1-4850-b3a0-35a1fb1134cd g.chr21:46012219_46012220insGGGGCGCAGCAGCTG ENST00000400368.1 - 1 166_167 c.146_147insCAGCTGCTGCGCCCC c.(145-147)cgc>cCAGCTGCTGCGCCCCgc p.48_49insPAAAP TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 48 29 X 5 AA repeats of C-C-X(3). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 GGCAGGGGGCCGGGGCGCAGCA 0.688 8 40 --- --- --- ---