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 CDK11B 984 broad.mit.edu 37 1 1572563 1572563 + Splice_Site SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr1:1572563C>A ENST00000407249.3 - 16 1580 c.1581G>T c.(1579-1581)ggG>ggT p.G527G CDK11B_ENST00000317673.7_Splice_Site_p.G525G|CDK11B_ENST00000341832.6_Splice_Site_p.G480G|CDK11B_ENST00000340677.5_Splice_Site_p.G514G P21127 CD11B_HUMAN cyclin-dependent kinase 11B 537 Protein kinase. apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2) 12 TCTTCACCTCCCCTGGGAGGG 0.642 4 33 --- --- --- --- PER3 8863 broad.mit.edu 37 1 7844947 7844947 + Missense_Mutation SNP G G T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr1:7844947G>T ENST00000377532.3 + 1 234 c.10G>T c.(10-12)Ggg>Tgg p.G4W PER3_ENST00000377541.1_Missense_Mutation_p.G4W|PER3_ENST00000361923.2_Missense_Mutation_p.G4W P56645 PER3_HUMAN period circadian clock 3 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) GATGCCCCGCGGGGAAGCTCC 0.667 4 17 --- --- --- --- TNFRSF8 943 broad.mit.edu 37 1 12157182 12157182 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr1:12157182C>A ENST00000263932.2 + 3 398 c.176C>A c.(175-177)cCa>cAa p.P59Q TNFRSF8_ENST00000417814.2_5'UTR NM_001243.3|NM_001281430.1 NP_001234.2|NP_001268359.1 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, member 8 59 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) CAGCAGTGCCCACAGAGGCCT 0.572 5 110 --- --- --- --- ARID1A 8289 broad.mit.edu 37 1 27058091 27058091 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr1:27058091C>A ENST00000324856.7 + 3 2170 c.1799C>A c.(1798-1800)cCg>cAg p.P600Q ARID1A_ENST00000457599.2_Missense_Mutation_p.P600Q|ARID1A_ENST00000374152.2_Missense_Mutation_p.P217Q NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 600 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TTCCCTCCACCGCAGGTAAGA 0.577 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 6 162 --- --- --- --- IQCC 55721 broad.mit.edu 37 1 32673327 32673327 + Missense_Mutation SNP T T C TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr1:32673327T>C ENST00000537469.1 + 5 1332 c.1285T>C c.(1285-1287)Tca>Cca p.S429P IQCC_ENST00000291358.6_Missense_Mutation_p.S349P NM_001160042.1 NP_001153514.1 Q4KMZ1 IQCC_HUMAN IQ motif containing C 349 endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CTATGAGGACTCAAATATTAA 0.498 3 151 --- --- --- --- ZSCAN20 7579 broad.mit.edu 37 1 33960126 33960126 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr1:33960126C>A ENST00000361328.3 + 8 2335 c.2182C>A c.(2182-2184)Cat>Aat p.H728N NM_145238.3 NP_660281 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 728 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CTTCATTGCCCATCAGCGAAT 0.463 6 155 --- --- --- --- KIAA0754 643314 broad.mit.edu 37 1 39879530 39879530 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr1:39879530C>A ENST00000530275.1 + 1 3380 c.3185C>A c.(3184-3186)cCg>cAg p.P1062Q MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 1062 Ala-rich. central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCCACTTCCCCGGCAGCTTCA 0.642 3 31 --- --- --- --- COL11A1 1301 broad.mit.edu 37 1 103387099 103387099 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr1:103387099C>A ENST00000358392.2 - 48 4036 c.3719G>T c.(3718-3720)gGc>gTc p.G1240V COL11A1_ENST00000512756.1_Missense_Mutation_p.G1112V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1189V|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1228V NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1228 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ACCTTGAGGGCCTCTTGGGCC 0.368 5 225 --- --- --- --- SLC16A4 9122 broad.mit.edu 37 1 110921517 110921517 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr1:110921517C>A ENST00000369779.4 - 6 1237 c.988G>T c.(988-990)Ggg>Tgg p.G330W SLC16A4_ENST00000541986.1_Missense_Mutation_p.G268W|SLC16A4_ENST00000437429.2_Missense_Mutation_p.G220W|SLC16A4_ENST00000472422.2_Missense_Mutation_p.G282W|SLC16A4_ENST00000369781.4_Intron NM_001201547.1|NM_004696.2 NP_001188476.1|NP_004687.1 O15374 MOT5_HUMAN solute carrier family 16, member 4 330 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2) 16 all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14) Pyruvic acid(DB00119) ATGTCAATCCCCAGTGTTTTG 0.413 5 111 --- --- --- --- CD101 9398 broad.mit.edu 37 1 117552477 117552477 + Missense_Mutation SNP C C T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr1:117552477C>T ENST00000256652.4 + 2 107 c.49C>T c.(49-51)Ctc>Ttc p.L17F CD101_ENST00000369470.1_Missense_Mutation_p.L17F NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4 NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2 Q93033 IGSF2_HUMAN CD101 molecule 17 cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 ACAAGCTAAGCTCAGCATTGG 0.443 28 39 --- --- --- --- NUP210L 91181 broad.mit.edu 37 1 153965386 153965386 + Silent SNP G G T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr1:153965386G>T ENST00000368559.3 - 40 5663 c.5592C>A c.(5590-5592)ccC>ccA p.P1864P NUP210L_ENST00000271854.3_Silent_p.P1712P|NUP210L_ENST00000368553.1_Silent_p.P645P NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 1864 FNSTSSPPHFMSLQP -> LTPQVLPLTS (in Ref. 1; BAC86345). integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TGAAGTGAGGGGGAGAACTTG 0.423 8 418 --- --- --- --- OBSCN 84033 broad.mit.edu 37 1 228482724 228482724 + Nonsense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr1:228482724C>A ENST00000570156.2 + 48 13000 c.12926C>A c.(12925-12927)tCg>tAg p.S4309* OBSCN_ENST00000422127.1_Nonsense_Mutation_p.S3880*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.S3880*|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.S2727*|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.S999*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.S999* NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3352 Ig-like 44. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GAGAGGACCTCGGCCACACTC 0.587 4 136 --- --- --- --- SIPA1L2 57568 broad.mit.edu 37 1 232649979 232649979 + Missense_Mutation SNP C C T rs113255944 TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr1:232649979C>T ENST00000366630.1 - 2 1465 c.1107G>A c.(1105-1107)atG>atA p.M369I SIPA1L2_ENST00000262861.4_Missense_Mutation_p.M369I Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 369 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GGCCCGTAGGCATCTGAGTCT 0.507 6 139 --- --- --- --- SPTBN1 6711 broad.mit.edu 37 2 54826279 54826279 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr2:54826279C>A ENST00000333896.5 + 2 545 c.160C>A c.(160-162)Cac>Aac p.H54N SPTBN1_ENST00000356805.4_Missense_Mutation_p.H67N NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 67 Actin-binding.|CH 1. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) GGTCAATTCCCACCTTGCCCG 0.537 6 134 --- --- --- --- AFF3 3899 broad.mit.edu 37 2 100203740 100203740 + Splice_Site SNP A A G TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr2:100203740A>G ENST00000409236.2 - 14 2579 c.2467T>C c.(2467-2469)Tgt>Cgt p.C823R AFF3_ENST00000356421.2_Splice_Site_p.C848R|AFF3_ENST00000317233.4_Splice_Site_p.C823R|AFF3_ENST00000409579.1_Splice_Site_p.C848R P51826 AFF3_HUMAN AF4/FMR2 family, member 3 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 TCGTTGTCACACTGTATGGGA 0.493 66 95 --- --- --- --- TMEM177 80775 broad.mit.edu 37 2 120438841 120438841 + Silent SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr2:120438841C>A ENST00000424086.1 + 2 885 c.412C>A c.(412-414)Cgg>Agg p.R138R TMEM177_ENST00000272521.6_Silent_p.R138R|TMEM177_ENST00000401466.1_Silent_p.R138R|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000409951.1_Intron NM_001105198.1 NP_001098668.1 Q53S58 TM177_HUMAN transmembrane protein 177 138 integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 13 Colorectal(110;0.196) AGCAGGCGCCCGGCTGAGAGC 0.602 5 177 --- --- --- --- MARS2 92935 broad.mit.edu 37 2 198571628 198571628 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr2:198571628C>A ENST00000282276.6 + 1 1542 c.1499C>A c.(1498-1500)cCa>cAa p.P500Q AC011997.1_ENST00000409845.1_Intron NM_138395.3 NP_612404.1 Q96GW9 SYMM_HUMAN methionyl-tRNA synthetase 2, mitochondrial 500 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 22 L-Methionine(DB00134) TGGGAGAGCCCAGTGGATGCT 0.542 6 189 --- --- --- --- PLEKHM3 389072 broad.mit.edu 37 2 208866226 208866226 + Silent SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr2:208866226C>A ENST00000457206.1 - 2 565 c.138G>T c.(136-138)gtG>gtT p.V46V PLEKHM3_ENST00000427836.2_Silent_p.V46V|PLEKHM3_ENST00000389247.4_Silent_p.V46V Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, member 3 46 intracellular signal transduction metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CCTCATGCCCCACCAGTTCAG 0.483 6 161 --- --- --- --- LRRFIP1 9208 broad.mit.edu 37 2 238671963 238671963 + Missense_Mutation SNP G G A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr2:238671963G>A ENST00000244815.5 + 10 1775 c.1535G>A c.(1534-1536)aGt>aAt p.S512N LRRFIP1_ENST00000392000.4_Missense_Mutation_p.S536N|LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.S480N NM_004735.3 NP_004726.2 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting protein 1 536 DNA-binding. negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|cytoskeleton|nucleus DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 29 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) ACAGGTCCAAGTACAGTAGAC 0.473 50 70 --- --- --- --- TATDN2 9797 broad.mit.edu 37 3 10301992 10301992 + Missense_Mutation SNP G G T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr3:10301992G>T ENST00000287652.4 + 3 1637 c.586G>T c.(586-588)Ggg>Tgg p.G196W TATDN2_ENST00000448281.2_Missense_Mutation_p.G196W|RP11-438J1.1_ENST00000450534.1_3'UTR NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 196 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 GGGCATCCTGGGGAAATCGAT 0.542 5 78 --- --- --- --- EPM2AIP1 9852 broad.mit.edu 37 3 37034262 37034262 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr3:37034262C>A ENST00000322716.5 - 1 533 c.307G>T c.(307-309)Ggg>Tgg p.G103W NM_014805.3 NP_055620.1 Q7L775 EPMIP_HUMAN EPM2A (laforin) interacting protein 1 103 endoplasmic reticulum breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2) 27 CGGCAGAGCCCGAGGCCTGCA 0.667 5 145 --- --- --- --- LTF 4057 broad.mit.edu 37 3 46491405 46491405 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr3:46491405C>A ENST00000231751.4 - 8 1291 c.996G>T c.(994-996)agG>agT p.R332S LTF_ENST00000417439.1_Missense_Mutation_p.R332S|LTF_ENST00000426532.2_Missense_Mutation_p.R288S NM_002343.3 NP_002334.2 P02788 TRFL_HUMAN lactotransferrin 332 Transferrin-like 1. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) CAGAATCTATCCTCGGGGGCA 0.557 30 26 --- --- --- --- DAG1 1605 broad.mit.edu 37 3 49568992 49568992 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr3:49568992C>A ENST00000545947.1 + 6 1770 c.1048C>A c.(1048-1050)Cca>Aca p.P350T DAG1_ENST00000308775.2_Missense_Mutation_p.P350T|DAG1_ENST00000538711.1_Missense_Mutation_p.P350T|DAG1_ENST00000539901.1_Missense_Mutation_p.P350T|DAG1_ENST00000541308.1_Missense_Mutation_p.P350T|DAG1_ENST00000515359.2_Missense_Mutation_p.P350T NM_001177634.2 NP_001171105 Q14118 DAG1_HUMAN dystroglycan 1 (dystrophin-associated glycoprotein 1) 350 Mucin-like domain.|Required for laminin recognition.|Thr-rich. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) CATTGCTCCTCCAACAGAGAC 0.602 7 184 --- --- --- --- BBX 56987 broad.mit.edu 37 3 107491592 107491592 + Missense_Mutation SNP A A G TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr3:107491592A>G ENST00000415149.2 + 11 1351 c.1024A>G c.(1024-1026)Atg>Gtg p.M342V BBX_ENST00000406780.1_Missense_Mutation_p.M342V|BBX_ENST00000325805.8_Missense_Mutation_p.M342V|BBX_ENST00000402543.1_Missense_Mutation_p.M342V|BBX_ENST00000416476.2_Intron NM_001142568.1|NM_020235.5 NP_001136040.1|NP_064620.2 Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 342 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) AGAAATTAAAATGGAGAAAAC 0.323 82 101 --- --- --- --- B4GALT4 8702 broad.mit.edu 37 3 118937533 118937533 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr3:118937533C>A ENST00000467604.1 - 6 1152 c.761G>T c.(760-762)tGg>tTg p.W254L B4GALT4_ENST00000483209.1_Missense_Mutation_p.W254L|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000359213.3_Missense_Mutation_p.W254L|B4GALT4_ENST00000393765.2_Missense_Mutation_p.W254L|B4GALT4_ENST00000460321.1_Intron O60513 B4GT4_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 254 membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding|N-acetyllactosamine synthase activity breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2) 14 GBM - Glioblastoma multiforme(114;0.222) N-Acetyl-D-glucosamine(DB00141) TCCCCATCCCCAGTAGTTGTT 0.512 5 131 --- --- --- --- EHHADH 1962 broad.mit.edu 37 3 184922218 184922218 + Nonsense_Mutation SNP G G T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr3:184922218G>T ENST00000231887.3 - 6 971 c.896C>A c.(895-897)tCa>tAa p.S299* EHHADH_ENST00000456310.1_Nonsense_Mutation_p.S203* NM_001166415.1|NM_001966.3 NP_001159887.1|NP_001957.2 Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 299 3-hydroxyacyl-CoA dehydrogenase. peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) AACACCAACTGAGGAGACAGG 0.488 5 111 --- --- --- --- MAPK10 5602 broad.mit.edu 37 4 86938398 86938398 + Missense_Mutation SNP G G T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr4:86938398G>T ENST00000395169.3 - 14 1984 c.1264C>A c.(1264-1266)Ctg>Atg p.L422M MAPK10_ENST00000395160.3_3'UTR|MAPK10_ENST00000395166.1_Missense_Mutation_p.L422M|MAPK10_ENST00000395157.3_Missense_Mutation_p.L315M|MAPK10_ENST00000449047.2_Missense_Mutation_p.L315M|MAPK10_ENST00000359221.3_Missense_Mutation_p.L460M|MAPK10_ENST00000361569.2_3'UTR NM_138980.2|NM_138982.2 NP_620446.1|NP_620448.1 P53779 MK10_HUMAN mitogen-activated protein kinase 10 460 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding breast(1)|central_nervous_system(1)|stomach(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) CAACAACCCAGGGGTCCTGCC 0.577 6 134 --- --- --- --- PCDHA9 9752 broad.mit.edu 37 5 140229692 140229692 + Missense_Mutation SNP C C T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr5:140229692C>T ENST00000378122.3 + 1 2336 c.1612C>T c.(1612-1614)Cgc>Tgc p.R538C PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.R538C|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGAGCGCGCGCGACGCGGG 0.667 105 129 --- --- --- --- RAB24 53917 broad.mit.edu 37 5 176730072 176730072 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr5:176730072C>A ENST00000303270.6 - 1 639 c.37G>T c.(37-39)Ggg>Tgg p.G13W RAB24_ENST00000303251.6_Missense_Mutation_p.G42W|RAB24_ENST00000393611.2_Missense_Mutation_p.G42W Q969Q5 RAB24_HUMAN RAB24, member RAS oncogene family 42 autophagy|protein transport|small GTPase mediated signal transduction cytosol|membrane GTP binding|protein binding all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAGGCGGCCCCGATGGTCTGC 0.622 4 54 --- --- --- --- CAGE1 285782 broad.mit.edu 37 6 7373784 7373784 + Missense_Mutation SNP C C T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr6:7373784C>T ENST00000502583.1 - 5 1832 c.1268G>A c.(1267-1269)aGg>aAg p.R423K CAGE1_ENST00000379918.4_Missense_Mutation_p.R423K|CAGE1_ENST00000512086.1_Missense_Mutation_p.R423K|CAGE1_ENST00000296742.7_Missense_Mutation_p.R287K|CAGE1_ENST00000338150.4_Missense_Mutation_p.R423K NM_001170692.1 NP_001164163.1 Q8TC20 CAGE1_HUMAN cancer antigen 1 423 breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1) 19 Ovarian(93;0.0418) AGTCATGTACCTTTCCTGTAA 0.348 43 50 --- --- --- --- DDR1 780 broad.mit.edu 37 6 30857097 30857097 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr6:30857097C>A ENST00000324771.8 + 6 855 c.307C>A c.(307-309)Cag>Aag p.Q103K DDR1_ENST00000376568.3_Missense_Mutation_p.Q103K|DDR1_ENST00000454612.2_Missense_Mutation_p.Q103K|DDR1_ENST00000513240.1_Missense_Mutation_p.Q103K|DDR1_ENST00000452441.1_Missense_Mutation_p.Q103K|DDR1_ENST00000376570.4_Missense_Mutation_p.Q103K|DDR1_ENST00000376569.3_Missense_Mutation_p.Q103K|DDR1_ENST00000508312.1_Missense_Mutation_p.Q121K|DDR1_ENST00000376575.3_Missense_Mutation_p.Q103K|DDR1_ENST00000418800.2_Missense_Mutation_p.Q103K|DDR1_ENST00000376567.2_Missense_Mutation_p.Q103K|DDR1_ENST00000446312.1_Missense_Mutation_p.Q103K Q08345 DDR1_HUMAN discoidin domain receptor tyrosine kinase 1 103 F5/8 type C. cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) GGTGGGCACCCAGGGACGGCA 0.672 5 130 --- --- --- --- CUL7 9820 broad.mit.edu 37 6 43006645 43006645 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr6:43006645C>A ENST00000535468.1 - 23 4713 c.4627G>T c.(4627-4629)Ggg>Tgg p.G1543W CUL7_ENST00000265348.3_Missense_Mutation_p.G1459W NM_001168370.1|NM_014780.4 NP_001161842.1|NP_055595.2 Q14999 CUL7_HUMAN cullin 7 1459 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GTCTGGTTCCCAAACTGCAGC 0.637 6 80 --- --- --- --- PRKAG2 51422 broad.mit.edu 37 7 151573651 151573651 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr7:151573651C>A ENST00000287878.4 - 1 559 c.55G>T c.(55-57)Ggg>Tgg p.G19W NM_016203.3 NP_057287.2 Q9UGJ0 AAKG2_HUMAN protein kinase, AMP-activated, gamma 2 non-catalytic subunit 19 ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process AMP-activated protein kinase complex|cytosol|nucleoplasm ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1) 26 all_neural(206;0.187) all_hematologic(28;0.0605) OV - Ovarian serous cystadenocarcinoma(82;0.00252) UCEC - Uterine corpus endometrioid carcinoma (81;0.185) CCGCCGCTCCCGCCGGGGCTG 0.587 5 90 --- --- --- --- SH2D4A 63898 broad.mit.edu 37 8 19190527 19190527 + Missense_Mutation SNP G G T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr8:19190527G>T ENST00000265807.3 + 3 654 c.243G>T c.(241-243)atG>atT p.M81I SH2D4A_ENST00000518040.1_Missense_Mutation_p.M36I|SH2D4A_ENST00000519207.1_Missense_Mutation_p.M81I NM_001174160.1|NM_022071.3 NP_001167631.1|NP_071354.2 Q9H788 SH24A_HUMAN SH2 domain containing 4A 81 cytoplasm|nucleus protein binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1) 16 Colorectal(111;0.0732) TATGGGTGATGGGCGAACACC 0.448 5 132 --- --- --- --- CPNE3 8895 broad.mit.edu 37 8 87549807 87549807 + Nonsense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr8:87549807C>A ENST00000521271.1 + 7 638 c.476C>A c.(475-477)tCa>tAa p.S159* CPNE3_ENST00000198765.4_Nonsense_Mutation_p.S159* NM_003909.3 NP_003900.1 O75131 CPNE3_HUMAN copine III 159 C2 2. lipid metabolic process|vesicle-mediated transport cytosol calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 23 TTTGGAAAGTCAGACCCATAC 0.403 28 43 --- --- --- --- TP53INP1 94241 broad.mit.edu 37 8 95942872 95942872 + Silent SNP G G T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr8:95942872G>T ENST00000342697.4 - 4 965 c.558C>A c.(556-558)ccC>ccA p.P186P NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_3'UTR|TP53INP1_ENST00000378776.4_Intron NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 186 apoptosis PML body kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) GAAAGCTCTTGGGTTGTTCCA 0.438 7 287 --- --- --- --- RUSC2 9853 broad.mit.edu 37 9 35555387 35555387 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr9:35555387C>A ENST00000455600.1 + 3 2914 c.2345C>A c.(2344-2346)cCc>cAc p.P782H NM_001135999.1 NP_001129471 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 782 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) AGCTACTCCCCCATCCGGAGT 0.662 8 209 --- --- --- --- WAC 51322 broad.mit.edu 37 10 28822945 28822945 + Silent SNP G G A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr10:28822945G>A ENST00000354911.4 + 2 221 c.60G>A c.(58-60)ggG>ggA p.G20G WAC_ENST00000347934.4_Silent_p.G20G|WAC_ENST00000375664.4_5'UTR|WAC_ENST00000532233.1_3'UTR|WAC_ENST00000428935.1_5'UTR|WAC_ENST00000375646.1_5'UTR NM_016628.4 NP_057712.2 Q9BTA9 WAC_HUMAN WW domain containing adaptor with coiled-coil 20 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1) 32 ACCGGAGGGGGGACTCGCAGC 0.677 4 89 --- --- --- --- UNC5B 219699 broad.mit.edu 37 10 73047379 73047379 + Missense_Mutation SNP C C T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr10:73047379C>T ENST00000335350.6 + 6 1174 c.758C>T c.(757-759)gCa>gTa p.A253V UNC5B_ENST00000373192.4_Missense_Mutation_p.A253V NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 253 TSP type-1 1. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 TCCAGCTGGGCAGAGTGGTCA 0.667 42 68 --- --- --- --- SFR1 119392 broad.mit.edu 37 10 105883828 105883828 + Missense_Mutation SNP G G T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr10:105883828G>T ENST00000336358.5 + 2 1197 c.678G>T c.(676-678)caG>caT p.Q226H SFR1_ENST00000369729.3_Missense_Mutation_p.Q151H|SFR1_ENST00000369727.3_Missense_Mutation_p.Q164H Q86XK3 SFR1_HUMAN SWI5-dependent recombination repair 1 164 double-strand break repair via homologous recombination Swi5-Sfr1 complex protein binding AGCAGGTTCAGGAGAAAGAAG 0.363 4 40 --- --- --- --- HTRA1 5654 broad.mit.edu 37 10 124271537 124271537 + Silent SNP A A G TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr10:124271537A>G ENST00000368984.3 + 8 1358 c.1230A>G c.(1228-1230)tcA>tcG p.S410S NM_002775.4 NP_002766.1 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 410 PDZ. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(8)|lung(7) 17 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) ACGTGATCTCAGGAGCGTATA 0.493 3 88 --- --- --- --- AHNAK 79026 broad.mit.edu 37 11 62288981 62288981 + Missense_Mutation SNP G G T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr11:62288981G>T ENST00000378024.4 - 5 13182 c.12908C>A c.(12907-12909)cCt>cAt p.P4303H AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4303 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) ATCTACATCAGGGGCATCGAT 0.522 8 360 --- --- --- --- PHLDB1 23187 broad.mit.edu 37 11 118516357 118516357 + Silent SNP C C T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr11:118516357C>T ENST00000361417.2 + 17 3816 c.3405C>T c.(3403-3405)gaC>gaT p.D1135D PHLDB1_ENST00000524713.1_Silent_p.D278D|PHLDB1_ENST00000527898.1_Silent_p.D186D|PHLDB1_ENST00000356063.5_Silent_p.D1088D|PHLDB1_ENST00000534672.1_3'UTR NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 1135 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) GCTCCCCTGACAACATGTCCA 0.642 34 54 --- --- --- --- ADAMTS15 170689 broad.mit.edu 37 11 130319507 130319507 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr11:130319507C>A ENST00000299164.2 + 1 639 c.639C>A c.(637-639)ttC>ttA p.F213L NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 213 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) CCAAGCGTTTCGTGTCTATCC 0.667 3 18 --- --- --- --- LEPREL2 10536 broad.mit.edu 37 12 6943162 6943162 + RNA SNP G G T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr12:6943162G>T ENST00000251761.8 + 0 1440 LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA NM_014262.3 NP_055077.2 leprecan-like 2 breast(1)|cervix(1)|endometrium(2)|lung(6) 10 GGGCGGTGTTGGATGGGCTGC 0.587 5 125 --- --- --- --- HIGD1C 613227 broad.mit.edu 37 12 51347860 51347860 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr12:51347860C>A ENST00000398455.3 + 1 156 c.79C>A c.(79-81)Ccc>Acc p.P27T NM_001109619.1 NP_001103089.1 A8MV81 HIG1C_HUMAN HIG1 hypoxia inducible domain family, member 1C 27 HIG1. integral to membrane lung(1) 1 TAGAGACTCCCCCTTTGTCCC 0.418 6 112 --- --- --- --- GRIP1 23426 broad.mit.edu 37 12 66935631 66935631 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr12:66935631C>A ENST00000359742.4 - 3 476 c.236G>T c.(235-237)aGa>aTa p.R79I GRIP1_ENST00000398016.3_Missense_Mutation_p.R79I|GRIP1_ENST00000286445.7_Missense_Mutation_p.R79I Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 79 PDZ 1. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) ATTAGATACTCTTGGCTTGCC 0.468 7 380 --- --- --- --- LGR5 8549 broad.mit.edu 37 12 71978504 71978504 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr12:71978504C>A ENST00000266674.5 + 18 3025 c.2714C>A c.(2713-2715)cCa>cAa p.P905Q LGR5_ENST00000536515.1_Missense_Mutation_p.P833Q|LGR5_ENST00000540815.2_Missense_Mutation_p.P881Q O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 905 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 GCATTTGTCCCATGTCTCTAA 0.428 5 163 --- --- --- --- BIVM-ERCC5 100533467 broad.mit.edu 37 13 103492069 103492069 + Missense_Mutation SNP A A C TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr13:103492069A>C ENST00000602836.1 + 9 1280 c.1280A>C c.(1279-1281)cAa>cCa p.Q427P BIVM_ENST00000257336.1_Missense_Mutation_p.N456H|BIVM_ENST00000419638.1_3'UTR|BIVM_ENST00000448849.2_Missense_Mutation_p.N234H NM_001204425.1 NP_001191354.1 Q59FZ7 Q59FZ7_HUMAN 0 nucleotide-excision repair nucleus endonuclease activity|single-stranded DNA binding GAGTGAAGACAATATTTCCAA 0.458 3 132 --- --- --- --- MCF2L 23263 broad.mit.edu 37 13 113732744 113732744 + Silent SNP G G A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr13:113732744G>A ENST00000397030.1 + 14 1864 c.1827G>A c.(1825-1827)agG>agA p.R609R MCF2L_ENST00000375604.2_Silent_p.R633R|MCF2L_ENST00000375597.4_Silent_p.R574R|MCF2L_ENST00000442652.2_Silent_p.R606R|MCF2L_ENST00000434480.2_Silent_p.R582R|MCF2L_ENST00000423482.2_Silent_p.R574R|MCF2L_ENST00000421756.1_Silent_p.R580R|MCF2L_ENST00000375608.3_Silent_p.R606R|MCF2L_ENST00000375601.3_Silent_p.R580R|MCF2L_ENST00000535094.2_Silent_p.R576R O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 606 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) CCTACCGGAGGGCCAAGGTGA 0.682 11 20 --- --- --- --- HEATR5A 25938 broad.mit.edu 37 14 31858176 31858176 + Nonsense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr14:31858176C>A ENST00000543095.2 - 7 992 c.808G>T c.(808-810)Gag>Tag p.E270* HEATR5A_ENST00000404677.3_Nonsense_Mutation_p.E270*|HEATR5A_ENST00000389961.3_Nonsense_Mutation_p.E264*|HEATR5A_ENST00000439348.1_Nonsense_Mutation_p.E264*|HEATR5A_ENST00000439727.1_5'UTR NM_015473.3 NP_056288.2 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 264 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) AGAACTTCCTCCAAAGATACT 0.403 4 52 --- --- --- --- FUT8 2530 broad.mit.edu 37 14 66188637 66188637 + Missense_Mutation SNP G G T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr14:66188637G>T ENST00000360689.5 + 8 2707 c.980G>T c.(979-981)tGg>tTg p.W327L FUT8_ENST00000394585.1_Missense_Mutation_p.W327L|FUT8_ENST00000557164.1_Missense_Mutation_p.W164L|FUT8_ENST00000417683.1_Intron|FUT8_ENST00000394586.2_Missense_Mutation_p.W327L|FUT8_ENST00000358307.2_Missense_Mutation_p.W198L NM_004480.4|NM_178155.2 NP_004471.4|NP_835368.1 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 (alpha (1,6) fucosyltransferase) 327 in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) GCAGTGTGGTGGGTGTCTCAG 0.483 7 158 --- --- --- --- ACOT4 122970 broad.mit.edu 37 14 74060421 74060421 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr14:74060421C>A ENST00000326303.4 + 2 727 c.473C>A c.(472-474)cCa>cAa p.P158Q NM_152331.3 NP_689544.3 Q8N9L9 ACOT4_HUMAN acyl-CoA thioesterase 4 158 acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process peroxisome carboxylesterase activity|palmitoyl-CoA hydrolase activity endometrium(1)|large_intestine(3)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(234;0.00331) GGACCCTTCCCAGGGATCATT 0.448 7 131 --- --- --- --- CLK3 1198 broad.mit.edu 37 15 74911652 74911652 + Silent SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr15:74911652C>A ENST00000395066.3 + 2 1020 c.559C>A c.(559-561)Cga>Aga p.R187R CLK3_ENST00000348245.3_Silent_p.R39R|CLK3_ENST00000352989.5_Silent_p.R39R|CLK3_ENST00000345005.4_Silent_p.R39R NM_001130028.1 NP_001123500.1 P49761 CLK3_HUMAN CDC-like kinase 3 187 Arg-rich. acrosomal vesicle|nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1) 15 ATACCCGTCCCGAAGGGAGCC 0.592 4 121 --- --- --- --- ADAMTS17 170691 broad.mit.edu 37 15 100821478 100821478 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr15:100821478C>A ENST00000268070.4 - 4 850 c.745G>T c.(745-747)Ggg>Tgg p.G249W NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 249 Peptidase M12B. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) GCCTCGGCCCCGTGGTACTGC 0.652 4 109 --- --- --- --- MPG 4350 broad.mit.edu 37 16 133168 133168 + Missense_Mutation SNP C C A rs139123111 TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr16:133168C>A ENST00000219431.4 + 4 664 c.433C>A c.(433-435)Cgc>Agc p.R145S MPG_ENST00000397817.1_Missense_Mutation_p.R128S NM_002434.3 NP_002425.2 P29372 3MG_HUMAN N-methylpurine-DNA glycosylase 145 depurination|DNA dealkylation involved in DNA repair nucleoplasm alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239) GCAGACCCCCCGCAACCGAGG 0.602 Base excision repair (BER), DNA glycosylases 6 250 --- --- --- --- SYT17 51760 broad.mit.edu 37 16 19195180 19195180 + Missense_Mutation SNP G G A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr16:19195180G>A ENST00000562034.1 + 3 4277 c.479G>A c.(478-480)cGc>cAc p.R160H SYT17_ENST00000568115.1_Missense_Mutation_p.R160H|SYT17_ENST00000355377.2_Missense_Mutation_p.R221H|SYT17_ENST00000562711.2_Missense_Mutation_p.R217H Q9BSW7 SYT17_HUMAN synaptotagmin XVII 221 membrane|synaptic vesicle transporter activity NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 17 GATGGCTCGCGCCAGGACATG 0.612 7 221 --- --- --- --- IRX6 79190 broad.mit.edu 37 16 55363122 55363122 + Missense_Mutation SNP G G T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr16:55363122G>T ENST00000290552.7 + 5 2564 c.1232G>T c.(1231-1233)gGa>gTa p.G411V RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 411 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 AAAGCCTTTGGAAACCCCAAG 0.622 49 80 --- --- --- --- GALNS 2588 broad.mit.edu 37 16 88904133 88904133 + Missense_Mutation SNP C C T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr16:88904133C>T ENST00000268695.5 - 5 551 c.463G>A c.(463-465)Gga>Aga p.G155R GALNS_ENST00000542788.1_Missense_Mutation_p.G80R NM_000512.4 NP_000503.1 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfate sulfatase 155 G -> E (in MPS4A).|G -> R (in MPS4A; severe form). lysosome metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8) 22 BRCA - Breast invasive adenocarcinoma(80;0.0496) Hyaluronidase(DB00070) TCATCAAATCCGTGCTTCAGG 0.572 49 64 --- --- --- --- SCIMP 388325 broad.mit.edu 37 17 5126630 5126630 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr17:5126630C>A ENST00000574081.1 - 2 247 c.143G>T c.(142-144)cGa>cTa p.R48L RP11-333E1.1_ENST00000575601.1_RNA|SCIMP_ENST00000571800.1_Intron|RP11-333E1.1_ENST00000571689.1_RNA|SCIMP_ENST00000574297.1_Missense_Mutation_p.R48L|SCIMP_ENST00000399600.4_Intron NM_001271842.1|NM_207103.3 NP_001258771.1|NP_996986.1 Q6UWF3 CQ087_HUMAN SLP adaptor and CSK interacting membrane protein 48 integral to membrane GCCATTACCTCGTCTAAGCTG 0.512 7 511 --- --- --- --- PIPOX 51268 broad.mit.edu 37 17 27380589 27380589 + Silent SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr17:27380589C>A ENST00000323372.4 + 4 962 c.636C>A c.(634-636)ccC>ccA p.P212P PIPOX_ENST00000583215.1_3'UTR NM_016518.2 NP_057602.2 Q9P0Z9 SOX_HUMAN pipecolic acid oxidase 212 tetrahydrofolate metabolic process peroxisome L-pipecolate oxidase activity|sarcosine oxidase activity endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Lung NSC(42;0.015) Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) Glycine(DB00145) TCCTCCGTCCCCTGGGCATTG 0.557 5 68 --- --- --- --- CNTNAP1 8506 broad.mit.edu 37 17 40849614 40849614 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr17:40849614C>A ENST00000264638.4 + 22 3828 c.3611C>A c.(3610-3612)cCa>cAa p.P1204Q CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 1204 Laminin G-like 4. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity p.P1204R(1) NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) TACAACACCCCAGGTTTCTCA 0.582 5 110 --- --- --- --- WNK4 65266 broad.mit.edu 37 17 40939533 40939533 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr17:40939533C>A ENST00000246914.5 + 7 1735 c.1714C>A c.(1714-1716)Cgc>Agc p.R572S WNK4_ENST00000587705.1_3'UTR NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 572 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CTTCCTTTTCCGCCACGCCAG 0.617 9 233 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696431 47696431 + Missense_Mutation SNP C C G TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr17:47696431C>G ENST00000393331.3 - 7 862 c.392G>C c.(391-393)tGg>tCg p.W131S SPOP_ENST00000504102.1_Missense_Mutation_p.W131S|SPOP_ENST00000393328.2_Missense_Mutation_p.W131S|SPOP_ENST00000503676.1_Missense_Mutation_p.W131S|SPOP_ENST00000347630.2_Missense_Mutation_p.W131S NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 131 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 CTTGAATCCCCAGTCTTTGCC 0.453 Prostate(2;0.17) 77 106 --- --- --- --- SPAG9 9043 broad.mit.edu 37 17 49054554 49054554 + Silent SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr17:49054554C>A ENST00000262013.7 - 27 3646 c.3438G>T c.(3436-3438)gtG>gtT p.V1146V SPAG9_ENST00000505279.1_Silent_p.V1136V|SPAG9_ENST00000357122.4_Silent_p.V1132V|SPAG9_ENST00000510283.1_Silent_p.V989V NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 1146 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) CTGTAATTCTCACAAAAGAGA 0.388 6 161 --- --- --- --- AP3D1 8943 broad.mit.edu 37 19 2114785 2114785 + Silent SNP G G T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr19:2114785G>T ENST00000355272.6 - 21 2591 c.2385C>A c.(2383-2385)ccC>ccA p.P795P AP3D1_ENST00000356926.4_Silent_p.P704P|AP3D1_ENST00000345016.5_Silent_p.P795P|AP3D1_ENST00000350812.6_Silent_p.P626P NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 795 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGGGTCGTTGGGGTCTTTGT 0.567 5 114 --- --- --- --- CAMSAP3 57662 broad.mit.edu 37 19 7670124 7670124 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr19:7670124C>A ENST00000446248.2 + 2 262 c.161C>A c.(160-162)cCg>cAg p.P54Q CAMSAP3_ENST00000160298.4_Missense_Mutation_p.P54Q NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 54 epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 CACGTGCCCCCGGAGCTGTGG 0.622 6 291 --- --- --- --- UQCRFS1 7386 broad.mit.edu 37 19 29698722 29698722 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr19:29698722C>A ENST00000304863.4 - 2 980 c.558G>T c.(556-558)caG>caT p.Q186H NM_006003.2 NP_005994.2 P47985 UCRI_HUMAN ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 186 respiratory electron transport chain integral to membrane|mitochondrial respiratory chain complex III 2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Breast(6;0.0545)|Esophageal squamous(110;0.239) Lung(7;0.092) CTGCAGCTTCCTGCTCAATTT 0.438 7 313 --- --- --- --- U2AF1L4 199746 broad.mit.edu 37 19 36234735 36234735 + Missense_Mutation SNP G G A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr19:36234735G>A ENST00000412391.2 - 7 566 c.553C>T c.(553-555)Ctc>Ttc p.L185F U2AF1L4_ENST00000378975.3_Missense_Mutation_p.L146F|AD000671.6_ENST00000589807.1_3'UTR|U2AF1L4_ENST00000292879.5_Silent_p.S126S Q8WU68 U2AF4_HUMAN U2 small nuclear RNA auxiliary factor 1-like 4 185 mRNA processing|RNA splicing nuclear speck|spliceosomal complex nucleotide binding|RNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 8 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CGCCCATAGAGCTGCCTCTGG 0.572 7 13 --- --- --- --- SAMD4B 55095 broad.mit.edu 37 19 39866397 39866397 + Silent SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr19:39866397C>A ENST00000314471.6 + 7 1810 c.775C>A c.(775-777)Cgg>Agg p.R259R SAMD4B_ENST00000596368.1_Silent_p.R259R|SAMD4B_ENST00000598913.1_Silent_p.R259R NM_018028.2 NP_060498.2 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 259 protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) GCTTGGGGCCCGGGCTGCTTT 0.647 6 208 --- --- --- --- MEGF8 1954 broad.mit.edu 37 19 42840497 42840497 + Splice_Site SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr19:42840497C>A ENST00000334370.4 + 6 1878 c.1243C>A c.(1243-1245)Cgg>Agg p.R415R MEGF8_ENST00000251268.6_Splice_Site_p.R415R NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 415 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) CTCCACTGCCCGGTAAGTGAC 0.637 3 34 --- --- --- --- FOXA3 3171 broad.mit.edu 37 19 46375372 46375372 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr19:46375372C>A ENST00000302177.2 + 2 306 c.109C>A c.(109-111)Ctc>Atc p.L37I NM_004497.2 NP_004488.2 P55318 FOXA3_HUMAN forkhead box A3 37 brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1) 13 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236) CATGGCCCCCCTCAACTCCTA 0.642 6 118 --- --- --- --- C5AR1 728 broad.mit.edu 37 19 47823991 47823991 + Silent SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr19:47823991C>A ENST00000355085.3 + 2 979 c.957C>A c.(955-957)ctC>ctA p.L319L NM_001736.3 NP_001727.1 P21730 C5AR_HUMAN complement component 5a receptor 1 319 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) CCAGCCTCCTCCGGAACGTGT 0.592 5 125 --- --- --- --- FAM83E 54854 broad.mit.edu 37 19 49107168 49107168 + Splice_Site SNP G G A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr19:49107168G>A ENST00000263266.3 - 4 948 c.759C>T c.(757-759)agC>agT p.S253S NM_017708.3 NP_060178.2 Q2M2I3 FA83E_HUMAN family with sequence similarity 83, member E 253 NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) TCCACGTGAAGCTGGGGGTCG 0.662 27 36 --- --- --- --- KLK4 9622 broad.mit.edu 37 19 51412631 51412631 + Missense_Mutation SNP C C T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr19:51412631C>T ENST00000324041.1 - 2 100 c.101G>A c.(100-102)gGc>gAc p.G34D NM_004917.3 NP_004908.3 Q9Y5K2 KLK4_HUMAN kallikrein-related peptidase 4 34 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878) GCAGTCCTCGCCGTTTATGAT 0.647 158 180 --- --- --- --- KLK5 25818 broad.mit.edu 37 19 51453323 51453323 + Silent SNP G G A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr19:51453323G>A ENST00000336334.3 - 3 475 c.123C>T c.(121-123)acC>acT p.T41T KLK5_ENST00000593428.1_Silent_p.T41T|KLK5_ENST00000391809.2_Silent_p.T41T NM_012427.4 NP_036559 Q9Y337 KLK5_HUMAN kallikrein-related peptidase 5 41 Missing (in Ref. 3; AAG33358). epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis extracellular space protein binding|serine-type endopeptidase activity NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888) CAGAGGGCACGGTGTTAGAGG 0.622 17 20 --- --- --- --- LILRB5 10990 broad.mit.edu 37 19 54755937 54755937 + Missense_Mutation SNP C C A rs144185169 byFrequency TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr19:54755937C>A ENST00000450632.1 - 12 1659 c.1582G>T c.(1582-1584)Ggg>Tgg p.G528W LILRB5_ENST00000316219.5_Missense_Mutation_p.G536W|LILRB5_ENST00000449561.2_Missense_Mutation_p.G537W|LILRB5_ENST00000345866.6_Missense_Mutation_p.G437W O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 536 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ATCTCCACCCCGTCCTTGGGC 0.627 5 225 --- --- --- --- NLRP8 126205 broad.mit.edu 37 19 56459478 56459478 + Silent SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr19:56459478C>A ENST00000291971.3 + 1 281 c.210C>A c.(208-210)ccC>ccA p.P70P NLRP8_ENST00000590542.1_Silent_p.P70P NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 70 DAPIN. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GCACCATGCCCATCACCTGGG 0.542 4 42 --- --- --- --- ZNF549 256051 broad.mit.edu 37 19 58049137 58049137 + Silent SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr19:58049137C>A ENST00000376233.3 + 4 946 c.765C>A c.(763-765)tcC>tcA p.S255S ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Silent_p.S242S|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron NM_001199295.1 NP_001186224 Q6P9A3 ZN549_HUMAN zinc finger protein 549 255 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATGGGAAATCCTTGAACTCTA 0.368 5 102 --- --- --- --- SIRPB1 10326 broad.mit.edu 37 20 1551529 1551529 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr20:1551529C>A ENST00000381605.4 - 4 1070 c.1006G>T c.(1006-1008)Ggg>Tgg p.G336W RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 336 Ig-like C1-type 2. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 GCTTGCTGCCCATCATGCTCC 0.547 7 177 --- --- --- --- AHCY 191 broad.mit.edu 37 20 32878543 32878543 + Missense_Mutation SNP T T C TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr20:32878543T>C ENST00000538132.1 - 6 1062 c.676A>G c.(676-678)Atg>Gtg p.M226V AHCY_ENST00000217426.2_Missense_Mutation_p.M254V NM_001161766.1 NP_001155238.1 P23526 SAHH_HUMAN adenosylhomocysteinase 254 methylation|xenobiotic metabolic process cytosol|melanosome adenosylhomocysteinase activity|protein binding endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 CTACCCTCCATGGCAGCCTGC 0.632 86 102 --- --- --- --- GGT7 2686 broad.mit.edu 37 20 33448108 33448108 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr20:33448108C>A ENST00000336431.5 - 5 736 c.692G>T c.(691-693)gGg>gTg p.G231V NM_178026.2 NP_821158.2 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 231 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 20 TCCGGGAACCCCCACCAAGAG 0.642 5 81 --- --- --- --- ZFP64 55734 broad.mit.edu 37 20 50776704 50776704 + Missense_Mutation SNP G G T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr20:50776704G>T ENST00000216923.4 - 5 1070 c.721C>A c.(721-723)Cgc>Agc p.R241S ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000371515.4_Missense_Mutation_p.R239S|ZFP64_ENST00000346617.4_Missense_Mutation_p.R187S|ZFP64_ENST00000361387.2_Missense_Mutation_p.R241S|ZFP64_ENST00000371518.2_Missense_Mutation_p.R241S NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 241 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 CTGGAGTTGCGGCTGGCGTAG 0.577 6 154 --- --- --- --- LTN1 26046 broad.mit.edu 37 21 30331780 30331780 + Splice_Site SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr21:30331780C>A ENST00000389194.2 - 13 2736 c.2731G>T c.(2731-2733)Gat>Tat p.D911Y LTN1_ENST00000361371.5_Splice_Site_p.D865Y NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 865 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 AGGCTATTACCTGGCAAATGT 0.388 6 229 --- --- --- --- HUNK 30811 broad.mit.edu 37 21 33297008 33297008 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr21:33297008C>A ENST00000270112.2 + 2 850 c.490C>A c.(490-492)Cgc>Agc p.R164S NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase 164 Protein kinase. multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 GTCCGAAGCCCGCAGATACAT 0.597 4 135 --- --- --- --- MX1 4599 broad.mit.edu 37 21 42817984 42817984 + Missense_Mutation SNP G G T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr21:42817984G>T ENST00000398600.2 + 15 2214 c.1189G>T c.(1189-1191)Ggg>Tgg p.G397W MX1_ENST00000398598.3_Missense_Mutation_p.G397W|MX1_ENST00000455164.2_Missense_Mutation_p.G397W|MX1_ENST00000288383.6_Missense_Mutation_p.G374W NM_001144925.1 NP_001138397.1 P20591 MX1_HUMAN myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) 397 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 27 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) GGAAACTGTAGGGGAGGAAGA 0.403 5 95 --- --- --- --- ARMCX2 9823 broad.mit.edu 37 X 100912074 100912074 + Silent SNP G G T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chrX:100912074G>T ENST00000328766.5 - 5 954 c.501C>A c.(499-501)ccC>ccA p.P167P ARMCX2_ENST00000356824.4_Silent_p.P167P|ARMCX2_ENST00000330154.2_Silent_p.P167P NM_014782.5 NP_055597.1 Q7L311 ARMX2_HUMAN armadillo repeat containing, X-linked 2 167 Ala-rich. integral to membrane binding NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 CCGCTTCTCTGGGAGCTTCTG 0.647 4 68 --- --- --- --- RAB40A 142684 broad.mit.edu 37 X 102755042 102755042 + Missense_Mutation SNP G G T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chrX:102755042G>T ENST00000372633.1 - 1 2761 c.643C>A c.(643-645)Ccc>Acc p.P215T LL0XNC01-250H12.3_ENST00000445990.1_RNA|RAB40A_ENST00000304236.1_Missense_Mutation_p.P215T Q8WXH6 RB40A_HUMAN RAB40A, member RAS oncogene family 215 SOCS box. protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1) 12 AAGGTACTGGGGAGCGGGAGC 0.597 5 92 --- --- --- --- SSB 6741 broad.mit.edu 37 2 170667531 170667531 + Frame_Shift_Del DEL C C - TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr2:170667531delC ENST00000409333.1 + 10 1221 c.974delC c.(973-975)tccfs p.S325fs SSB_ENST00000260956.4_Frame_Shift_Del_p.S325fs|METTL5_ENST00000409837.1_Intron P05455 LA_HUMAN Sjogren syndrome antigen B (autoantigen La) 325 histone mRNA metabolic process|tRNA modification nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding|tRNA binding endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 CAACAAGAATCCCTAAACAAA 0.343 23 10 --- --- --- --- CLEC16A 23274 broad.mit.edu 37 16 11076736 11076738 + Splice_Site DEL TCT TCT - TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr16:11076736_11076738delTCT ENST00000409790.1 + 10 1189_1191 c.959_961delTCT c.(958-963)gtcttc>gtc p.F321del CLEC16A_ENST00000409552.3_Splice_Site_p.F319del NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 321 breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 TTCCGCCAGGTCTTCTTAATTAT 0.448 18 36 --- --- --- ---