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 GRK4 2868 broad.mit.edu 37 4 2990529 2990529 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:2990529C>T ENST00000398052.4 + 3 567 c.224C>T c.(223-225)cCc>cTc p.P75L GRK4_ENST00000398051.4_Missense_Mutation_p.P43L|GRK4_ENST00000504933.1_Missense_Mutation_p.P75L|GRK4_ENST00000345167.6_Missense_Mutation_p.P43L NM_182982.2 NP_892027.2 P32298 GRK4_HUMAN G protein-coupled receptor kinase 4 75 N-terminal.|RGS. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(1)|upper_aerodigestive_tract(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GATACCAAACCCACTCTAAAG 0.413000 14 31 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179587430 179587430 + Missense_Mutation SNP T T A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:179587430T>A ENST00000589042.1 - 76 22420 c.22196A>T c.(22195-22197)aAt>aTt p.N7399I TTN_ENST00000591111.1_Missense_Mutation_p.N7082I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.N6155I|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7082 Ig-like 56. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCTATACTATTTTCTGCTTT 0.323000 19 53 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91631050 91631050 + Missense_Mutation SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:91631050A>G ENST00000359028.2 + 9 2080 c.1855A>G c.(1855-1857)Aag>Gag p.K619E AKAP9_ENST00000358100.2_Missense_Mutation_p.K619E|AKAP9_ENST00000356239.3_Missense_Mutation_p.K607E Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 619 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AGAAAAAGAAAAGAATGCTGT 0.348000 T BRAF papillary thyroid 35 46 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140773521 140773521 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr9:140773521G>A ENST00000371372.1 + 2 445 c.300G>A c.(298-300)atG>atA p.M100I CACNA1B_ENST00000277549.5_5'UTR|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371363.1_Missense_Mutation_p.M100I|CACNA1B_ENST00000277551.2_Missense_Mutation_p.M100I|CACNA1B_ENST00000371355.4_Missense_Mutation_p.M100I|CACNA1B_ENST00000371357.1_Missense_Mutation_p.M100I NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 100 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TCGAGTATATGATCCTGGCCA 0.637000 4 23 0 0 1 0 0 OR6C74 254783 broad.mit.edu 37 12 55641793 55641793 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:55641793C>T ENST00000343870.4 + 1 812 c.722C>T c.(721-723)tCc>tTc p.S241F NM_001005490.1 NP_001005490.1 A6NCV1 O6C74_HUMAN olfactory receptor, family 6, subfamily C, member 74 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 12 ACATGTTCTTCCCACATGGTG 0.378000 22 71 0 0 1 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86537805 86537805 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:86537805G>A ENST00000450689.2 - 17 2599 c.2414C>T c.(2413-2415)cCa>cTa p.P805L KIAA1324L_ENST00000416314.1_Missense_Mutation_p.P638L|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.P565L|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.P734L NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 805 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) TGTTGGAACTGGGAACATATC 0.284000 34 67 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3241070 3241070 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:3241070C>T ENST00000217939.6 - 5 2810 c.2656G>A c.(2656-2658)Gaa>Aaa p.E886K NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 886 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TCAACAACTTCCTCCAGAGGT 0.478000 77 15 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137237241 137237241 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:137237241G>A ENST00000453654.1 - 20 1660 c.1121C>T c.(1120-1122)tCc>tTc p.S374F DGKI_ENST00000288490.5_Missense_Mutation_p.S674F|DGKI_ENST00000446122.1_Missense_Mutation_p.S674F|DGKI_ENST00000424189.2_Missense_Mutation_p.S674F O75912 DGKI_HUMAN diacylglycerol kinase, iota 674 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 CATGGGGATGGATTTGTAAGT 0.527000 73 130 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17051876 17051876 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:17051876C>T ENST00000418129.2 + 2 1125 c.660C>T c.(658-660)ttC>ttT p.F220F PLCL2_ENST00000432376.1_Silent_p.F220F|PLCL2_ENST00000396755.2_Silent_p.F220F|PLCL2_ENST00000460467.1_Intron NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 346 PH. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 AAATTTATTTCCTTTTAGTTC 0.358000 27 33 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561565 11561565 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:11561565C>T ENST00000294484.6 + 2 654 c.516C>T c.(514-516)ccC>ccT p.P172P PTCHD2_ENST00000389575.3_Silent_p.P172P NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 172 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CCCGAGCCCCCCGCGTCATCC 0.672000 19 18 0 0 1 0 0 RP11-85G18.6 0 broad.mit.edu 37 10 27535085 27535085 + RNA SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:27535085C>T ENST00000574842.1 + 0 255 CTGTCCTCATCAGATGGGGAT 0.527000 29 1 0 0 1 0 0 IL17RC 84818 broad.mit.edu 37 3 9970142 9970142 + Missense_Mutation SNP C C T rs151311782 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:9970142C>T ENST00000295981.3 + 11 1462 c.1244C>T c.(1243-1245)cCg>cTg p.P415L IL17RC_ENST00000383812.4_Missense_Mutation_p.P329L|IL17RC_ENST00000455057.1_Missense_Mutation_p.P329L|IL17RC_ENST00000416074.2_Missense_Mutation_p.P200L|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000413608.1_Missense_Mutation_p.P344L|IL17RC_ENST00000403601.3_Missense_Mutation_p.P344L NM_153461.3 NP_703191.1 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C 415 integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 CTGGTCCCACCGCTTTCCTGG 0.672000 86 94 0 0 1 0 0 AAAS 8086 broad.mit.edu 37 12 53715136 53715136 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:53715136G>A ENST00000209873.4 - 1 279 c.114C>T c.(112-114)ttC>ttT p.F38F AAAS_ENST00000394384.3_Silent_p.F38F|AAAS_ENST00000550286.1_Intron|AAAS_ENST00000549983.1_Intron NM_015665.5 NP_056480.1 Q9NRG9 AAAS_HUMAN achalasia, adrenocortical insufficiency, alacrimia 38 carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction nuclear pore breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 CCTGGCCCCGGAAGTCGGGGG 0.657000 94 55 0 0 1 0 0 RFX3 5991 broad.mit.edu 37 9 3271119 3271119 + Splice_Site SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr9:3271119C>T ENST00000382004.3 - 11 1398 c.e11-1 RFX3_ENST00000302303.1_Splice_Site|RFX3_ENST00000358730.2_Splice_Site NM_134428.1 NP_602304.1 P48380 RFX3_HUMAN regulatory factor X, 3 (influences HLA class II expression) cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) CCAATATTGCCTAAAAAACAA 0.378000 24 3 0 0 1 0 0 PRAMEF10 343071 broad.mit.edu 37 1 12954493 12954493 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:12954493G>A ENST00000235347.4 - 3 869 c.790C>T c.(790-792)Ctc>Ttc p.L264F NM_001039361.3 NP_001034450.2 O60809 PRA10_HUMAN PRAME family member 10 264 NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TACAGGCAGAGGAATGGAGAG 0.463000 96 214 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40634293 40634293 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:40634293G>A ENST00000298910.7 + 6 638 c.580G>A c.(580-582)Gag>Aag p.E194K LRRK2_ENST00000343742.2_Missense_Mutation_p.E194K NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 194 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) AGTCTCAGAGGAGCAACTGAC 0.279000 25 13 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072013 17072013 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr22:17072013G>A ENST00000359963.3 - 1 1687 c.1428C>T c.(1426-1428)ctC>ctT p.L476L NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 476 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CACCCATTAGGAGGTTCCCAC 0.517000 75 210 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12409257 12409257 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:12409257C>T ENST00000358136.3 + 46 9387 c.9257C>T c.(9256-9258)tCg>tTg p.S3086L VPS13D_ENST00000356315.4_Missense_Mutation_p.S3061L NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3085 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CCAGGGGATTCGTTTGCTGTG 0.502000 87 110 0 0 1 0 0 IGHMBP2 3508 broad.mit.edu 37 11 68703904 68703904 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:68703904C>T ENST00000255078.3 + 13 2067 c.1956C>T c.(1954-1956)tcC>tcT p.S652S NM_002180.2 NP_002171.2 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 652 cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) AAAACTATTCCCATGAGAACT 0.567000 84 84 0 0 1 0 0 INHBC 3626 broad.mit.edu 37 12 57828922 57828922 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:57828922G>A ENST00000309668.2 + 1 380 c.253G>A c.(253-255)Ggg>Agg p.G85R INHBC_ENST00000550133.1_Missense_Mutation_p.G85R NM_005538.2 NP_005529.1 P55103 INHBC_HUMAN inhibin, beta C 85 growth extracellular region growth factor activity|hormone activity|transforming growth factor beta receptor binding breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1) 16 GGTCCCACAGGGGGCACTTCT 0.572000 26 23 0 0 1 0 0 ENPP4 22875 broad.mit.edu 37 6 46108835 46108835 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:46108835G>A ENST00000321037.4 + 3 1103 c.873G>A c.(871-873)atG>atA p.M291I NM_014936.4 NP_055751.1 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) 291 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 18 GCCCTCATATGAATGTTTATC 0.328000 16 48 0 0 1 0 0 PLXDC1 57125 broad.mit.edu 37 17 37265599 37265599 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:37265599C>T ENST00000315392.4 - 3 512 c.301G>A c.(301-303)Gag>Aag p.E101K PLXDC1_ENST00000394316.2_Missense_Mutation_p.E101K|PLXDC1_ENST00000539608.1_Missense_Mutation_p.E28K|PLXDC1_ENST00000444911.2_Missense_Mutation_p.E61K|PLXDC1_ENST00000493200.1_5'UTR NM_020405.4 NP_065138.2 Q8IUK5 PXDC1_HUMAN plexin domain containing 1 101 angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 CTGTGGGGCTCGCTGGGGCCA 0.592000 11 8 0 0 1 0 0 LMOD1 25802 broad.mit.edu 37 1 201868521 201868521 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:201868521G>A ENST00000367288.4 - 2 1866 c.1620C>T c.(1618-1620)ccC>ccT p.P540P RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA NM_012134.2 NP_036266.2 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 540 muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 GTGGAGCCAAGGGAGGGGGAG 0.562000 26 18 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107911735 107911735 + Splice_Site SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:107911735G>A ENST00000328300.6 + 41 4034 c.e41+1 COL4A5_ENST00000361603.2_Splice_Site NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GGGAGACCAGGTATGTCCGTG 0.527000 Alport syndrome with Diffuse Leiomyomatosis 21 2 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82764371 82764371 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:82764371G>A ENST00000423517.2 - 3 2832 c.2495C>T c.(2494-2496)tCa>tTa p.S832L PCLO_ENST00000333891.8_Missense_Mutation_p.S832L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 778 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ACCAGGATGTGAAATAATTTT 0.428000 87 115 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228461502 228461502 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:228461502C>T ENST00000570156.2 + 22 6368 c.6294C>T c.(6292-6294)tgC>tgT p.C2098C OBSCN_ENST00000359599.6_Silent_p.C570C|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.C1723C|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.C1723C NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1079 Ig-like 21. 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) AGAGACCCTGCCGCAGGGAGC 0.632000 10 21 0 0 1 0 0 PALM 5064 broad.mit.edu 37 19 727599 727599 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:727599G>A ENST00000264560.7 + 4 368 c.174G>A c.(172-174)ggG>ggA p.G58G PALM_ENST00000606643.1_3'UTR|PALM_ENST00000338448.5_Silent_p.G58G NM_001040134.1 NP_001035224.1 O75781 PALM_HUMAN paralemmin 58 cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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)|Lung(535;0.201) TGCTGGAGGGGACGCCGTCCT 0.647000 3 3 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 142012201 142012201 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:142012201G>A ENST00000389484.3 - 4 1324 c.353C>T c.(352-354)tCc>tTc p.S118F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 118 EGF-like 1. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTGGCAATTGGATAACAGTTC 0.313000 TSP Lung(27;0.18) 20 15 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109518558 109518558 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr13:109518558C>T ENST00000356711.2 + 12 1453 c.1327C>T c.(1327-1329)Cca>Tca p.P443S MYO16_ENST00000357550.2_Missense_Mutation_p.P443S|MYO16_ENST00000251041.5_Missense_Mutation_p.P443S NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 443 Myosin head-like 1. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GCTTGTTAACCCATACAAGGA 0.299000 36 99 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107041553 107041553 + Missense_Mutation SNP T T A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:107041553T>A ENST00000409886.3 - 20 2957 c.2870A>T c.(2869-2871)aAg>aTg p.K957M RGPD3_ENST00000304514.7_Missense_Mutation_p.K957M NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 957 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 ACCACGGCCCTTCTTCCGGCC 0.403000 124 459 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10435066 10435066 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:10435066C>T ENST00000245503.5 - 22 2965 c.2581G>A c.(2581-2583)Gaa>Aaa p.E861K MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E861K NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 861 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.?(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TTCTGAAATTCTTCCTTCATG 0.423000 54 72 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26164451 26164451 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr22:26164451G>A ENST00000335473.7 + 4 818 c.568G>A c.(568-570)Gaa>Aaa p.E190K MYO18B_ENST00000407587.2_Missense_Mutation_p.E190K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E190K NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 190 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 TACTGGAAAGGAAAAGAAAGG 0.617000 10 10 0 0 1 0 0 CCDC105 126402 broad.mit.edu 37 19 15132481 15132481 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:15132481G>A ENST00000292574.3 + 5 1177 c.1095G>A c.(1093-1095)acG>acA p.T365T NM_173482.2 NP_775753.2 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 365 microtubule cytoskeleton organization microtubule p.T365T(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 TCCGGTGTACGAAATATAACC 0.592000 23 32 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8737811 8737811 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr20:8737811G>A ENST00000378641.3 + 24 3117 c.2642G>A c.(2641-2643)aGc>aAc p.S881N PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.S881N|PLCB1_ENST00000338037.6_Missense_Mutation_p.S881N NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 881 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 GCTCTCCACAGCCAGCCAGCT 0.557000 29 66 0 0 1 0 0 TAS2R9 50835 broad.mit.edu 37 12 10961801 10961801 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:10961801C>T ENST00000240691.2 - 1 966 c.874G>A c.(874-876)Gct>Act p.A292T NM_023917.2 NP_076406.1 Q9NYW1 TA2R9_HUMAN taste receptor, type 2, member 9 292 sensory perception of taste integral to membrane taste receptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TTCAGAAAAGCTTCCCTCAAC 0.368000 38 42 0 0 1 0 0 OR51G1 79324 broad.mit.edu 37 11 4944991 4944991 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:4944991G>A ENST00000321961.2 - 1 646 c.579C>T c.(577-579)agC>agT p.S193S MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005237.1 NP_001005237.1 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, member 1 193 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TGACAATGATGCTAGAGCAGG 0.532000 20 37 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92534247 92534247 + Missense_Mutation SNP T T A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:92534247T>A ENST00000298047.6 + 9 8085 c.8068T>A c.(8068-8070)Tcc>Acc p.S2690T FAT3_ENST00000525166.1_Missense_Mutation_p.S2540T|FAT3_ENST00000409404.2_Missense_Mutation_p.S2690T Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2690 Cadherin 24. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGTAAAGCACTCCCTCATTCC 0.453000 TCGA Ovarian(4;0.039) 16 20 0 0 1 0 0 ADA 100 broad.mit.edu 37 20 43251686 43251686 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr20:43251686G>A ENST00000372874.4 - 7 774 c.640C>T c.(640-642)Cac>Tac p.H214Y ADA_ENST00000537820.1_Intron|PKIG_ENST00000372882.3_Intron|ADA_ENST00000464097.1_5'UTR|PKIG_ENST00000372887.1_Intron NM_000022.2 NP_000013.2 P00813 ADA_HUMAN adenosine deaminase 214 adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome adenosine deaminase activity|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1) 18 all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194) TCCCCGGCGTGGACAGTACGG 0.652000 Adenosine Deaminase Deficiency 42 65 0 0 1 0 0 ZNF225 7768 broad.mit.edu 37 19 44635578 44635578 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:44635578C>T ENST00000262894.6 + 5 1091 c.811C>T c.(811-813)Cat>Tat p.H271Y ZNF225_ENST00000590612.1_Missense_Mutation_p.H271Y|ZNF225_ENST00000592780.1_3'UTR NM_013362.2 NP_037494.2 Q9UK10 ZN225_HUMAN zinc finger protein 225 271 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 16 Prostate(69;0.0352)|all_neural(266;0.202) GGCCTTCATTCATGATTCCCA 0.398000 47 64 0 0 1 0 0 SLC32A1 140679 broad.mit.edu 37 20 37357136 37357136 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr20:37357136C>T ENST00000217420.1 + 2 1695 c.1432C>T c.(1432-1434)Ctg>Ttg p.L478L NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 478 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CCTCTTTCACCTGCGCCTGCT 0.637000 41 37 0 0 1 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2901625 2901625 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:2901625C>T ENST00000254695.8 + 14 1245 c.1155C>T c.(1153-1155)atC>atT p.I385I RAP1GAP2_ENST00000366401.4_Silent_p.I370I|RAP1GAP2_ENST00000542807.1_Silent_p.I385I|RAP1GAP2_ENST00000540393.2_Silent_p.I366I NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 385 Rap-GAP. regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 ATGCCTACATCGTCGTGCAGG 0.532000 49 56 0 0 1 0 0 MAP2K1 5604 broad.mit.edu 37 15 66729162 66729162 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr15:66729162C>T ENST00000307102.5 + 3 901 c.370C>T c.(370-372)Ccg>Tcg p.P124S NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 124 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P124S(8) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 GTGCAACTCTCCGTACATCGT 0.507000 38 66 0 0 1 0 0 SPOCK1 6695 broad.mit.edu 37 5 136403404 136403404 + Splice_Site SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:136403404C>T ENST00000394945.1 - 6 758 c.589_splice c.e6+1 p.A197_splice SPOCK1_ENST00000282223.7_Splice_Site_p.A197_splice NM_004598.3 NP_004589.1 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 197 cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CCTCACTCACCACTCCTTTCT 0.572000 12 44 0 0 1 0 0 SERPINA9 327657 broad.mit.edu 37 14 94931059 94931059 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:94931059G>A ENST00000337425.5 - 4 1163 c.1089C>T c.(1087-1089)tcC>tcT p.S363S SERPINA9_ENST00000424550.2_Silent_p.S214S|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000380365.3_Silent_p.S345S|SERPINA9_ENST00000448305.2_Silent_p.S265S|SERPINA9_ENST00000298845.7_Silent_p.S263S|SERPINA9_ENST00000546329.1_Silent_p.S327S NM_175739.3 NP_783866.2 Q86WD7 SPA9_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 345 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) AAACCTGCAGGGAGTCTCTCT 0.398000 22 58 0 0 1 0 0 ADAD2 161931 broad.mit.edu 37 16 84224979 84224979 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:84224979C>T ENST00000268624.3 + 1 236 c.143C>T c.(142-144)gCg>gTg p.A48V ADAD2_ENST00000567413.1_3'UTR|ADAD2_ENST00000315906.5_Missense_Mutation_p.A48V NM_139174.3 NP_631913.3 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 48 RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1) 13 cccgcgcccgcgcccgcgACG 0.761000 6 12 0 0 1 0 0 IFNAR1 3454 broad.mit.edu 37 21 34721728 34721728 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr21:34721728C>T ENST00000270139.3 + 8 1174 c.1022C>T c.(1021-1023)tCc>tTc p.S341F IFNAR1_ENST00000416947.2_Missense_Mutation_p.S272F|IFNAR1_ENST00000442357.2_Missense_Mutation_p.S341F NM_000629.2 NP_000620.2 P17181 INAR1_HUMAN interferon (alpha, beta and omega) receptor 1 341 Fibronectin type-III 3. JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway integral to plasma membrane type I interferon receptor activity breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2) 14 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) AACATTAGATCCCTTAGTGAT 0.328000 30 3 0 0 1 0 0 USP44 84101 broad.mit.edu 37 12 95926702 95926702 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:95926702G>A ENST00000258499.3 - 2 1619 c.1331C>T c.(1330-1332)aCc>aTc p.T444I USP44_ENST00000393091.2_Missense_Mutation_p.T444I|USP44_ENST00000552440.1_Missense_Mutation_p.T444I|USP44_ENST00000537435.2_Missense_Mutation_p.T444I NM_001278393.1|NM_032147.2 NP_001265322.1|NP_115523.2 Q9H0E7 UBP44_HUMAN ubiquitin specific peptidase 44 444 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 TGGTAAACTGGTACCAGTTGT 0.383000 31 30 0 0 1 0 0 UGT2A1 10941 broad.mit.edu 37 4 70460345 70460345 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:70460345C>T ENST00000503640.1 - 5 1209 c.1154G>A c.(1153-1155)gGa>gAa p.G385E UGT2A1_ENST00000514019.1_Missense_Mutation_p.G551E|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000512704.1_Missense_Mutation_p.G341E|UGT2A1_ENST00000286604.4_Missense_Mutation_p.G385E|UGT2A2_ENST00000457664.2_Missense_Mutation_p.G394E NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 385 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 CATAGGGACTCCGTGGTAAAT 0.458000 39 31 0 0 1 0 0 SELENBP1 8991 broad.mit.edu 37 1 151338846 151338846 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:151338846G>A ENST00000435071.1 - 7 1018 c.556C>T c.(556-558)Ccc>Tcc p.P186S SELENBP1_ENST00000447402.3_Missense_Mutation_p.P188S|SELENBP1_ENST00000368868.5_Missense_Mutation_p.P250S|SELENBP1_ENST00000426705.2_Missense_Mutation_p.P292S Q13228 SBP1_HUMAN selenium binding protein 1 250 protein transport cytosol|membrane|nucleolus protein binding|selenium binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) ATCTCCAAGGGAATAAGCCCA 0.572000 89 116 0 0 1 0 0 FKBP5 2289 broad.mit.edu 37 6 35604865 35604865 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:35604865C>T ENST00000542713.1 - 3 333 c.176G>A c.(175-177)gGa>gAa p.G59E FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000357266.4_Missense_Mutation_p.G59E|FKBP5_ENST00000539068.1_Missense_Mutation_p.G59E|FKBP5_ENST00000536438.1_Missense_Mutation_p.G59E NM_001145777.1 NP_001139249.1 Q13451 FKBP5_HUMAN FK506 binding protein 5 59 PPIase FKBP-type 1. protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2) 17 TGACAATTTTCCTTTGTAATG 0.358000 15 52 0 0 1 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576582 158576582 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:158576582G>A ENST00000361284.1 + 1 354 c.354G>A c.(352-354)atG>atA p.M118I NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) TGGCTGCCATGGGCTTTGACA 0.552000 73 94 0 0 1 0 0 ZBTB21 49854 broad.mit.edu 37 21 43413314 43413314 + Silent SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr21:43413314T>C ENST00000310826.5 - 3 1074 c.891A>G c.(889-891)aaA>aaG p.K297K ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398505.3_Silent_p.K297K|ZBTB21_ENST00000398499.1_Silent_p.K297K|ZBTB21_ENST00000398511.3_Silent_p.K297K NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 GACCATTTCCTTTGTTAGTTT 0.413000 67 9 0 0 1 0 0 MEIS3 56917 broad.mit.edu 37 19 47910346 47910346 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:47910346G>A ENST00000331559.5 - 10 1512 c.1071C>T c.(1069-1071)tcC>tcT p.S357S MEIS3_ENST00000558555.1_Silent_p.S328S|MEIS3_ENST00000561293.1_Silent_p.S374S|MEIS3_ENST00000559524.1_Silent_p.S374S|MEIS3_ENST00000561096.1_Silent_p.S416S|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000441740.2_Silent_p.S311S NM_020160.2 NP_064545.1 Q99687 MEIS3_HUMAN Meis homeobox 3 328 VRPPG -> FRAPA (in Ref. 5). nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2) 20 all_cancers(25;1.65e-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;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223) CTGTGCGGTTGGATTGATCGA 0.612000 11 16 0 0 1 0 0 TRBV19 28568 broad.mit.edu 37 7 142326947 142326947 + RNA SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:142326947G>A ENST00000390393.3 + 0 453 ATAGCTGAAGGGTACAGCGTC 0.483000 94 120 0 0 1 0 0 ALOX5 240 broad.mit.edu 37 10 45941061 45941061 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:45941061G>A ENST00000374391.2 + 14 2004 c.1951G>A c.(1951-1953)Gag>Aag p.E651K ALOX5_ENST00000542434.1_Missense_Mutation_p.E594K|RP11-67C2.2_ENST00000435635.1_RNA NM_000698.3|NM_001256153.1 NP_000689.1|NP_001243082.1 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 651 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) CGTGATTGCTGAGCGCAACAA 0.537000 57 12 0 0 1 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2921491 2921491 + Splice_Site SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:2921491C>T ENST00000254695.8 + 18 1721 c.1632_splice c.e18+1 p.S544_splice RAP1GAP2_ENST00000366401.4_Splice_Site_p.S529_splice|RAP1GAP2_ENST00000542807.1_Splice_Site_p.S544_splice|RAP1GAP2_ENST00000540393.2_Splice_Site_p.S525_splice NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 544 regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 ACCACCTTCTCGGTGAGTGCT 0.677000 8 4 0 0 1 0 0 EIF4B 1975 broad.mit.edu 37 12 53412708 53412708 + Missense_Mutation SNP C C G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:53412708C>G ENST00000262056.9 + 3 604 c.278C>G c.(277-279)tCg>tGg p.S93W RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000420463.3_Missense_Mutation_p.S93W|EIF4B_ENST00000416762.3_Missense_Mutation_p.S93W|RP11-983P16.4_ENST00000549388.1_RNA NM_001417.4 NP_001408.2 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 93 insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1) 22 CTTCCCAAATCGCCACCCTAC 0.478000 40 26 0 0 1 0 0 FKBP15 23307 broad.mit.edu 37 9 115946090 115946090 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr9:115946090C>T ENST00000238256.3 - 18 1869 c.1752G>A c.(1750-1752)aaG>aaA p.K584K NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 584 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 TCCGATTGCTCTTTTCAAGGA 0.378000 55 6 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75037944 75037944 + Missense_Mutation SNP T T A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:75037944T>A ENST00000326665.5 - 14 3668 c.3450A>T c.(3448-3450)aaA>aaT p.K1150N C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1150 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CCACTGTCTCTTTTAGTGAAT 0.473000 39 59 0 0 1 0 0 GABRG1 2565 broad.mit.edu 37 4 46125833 46125833 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:46125833C>T ENST00000295452.4 - 1 265 c.98G>A c.(97-99)gGa>gAa p.G33E NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 33 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TCACCAGTTTCCCAAATGCAG 0.408000 19 21 0 0 1 0 0 DDX6 1656 broad.mit.edu 37 11 118656856 118656856 + Silent SNP G G C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:118656856G>C ENST00000264018.4 - 2 410 c.105C>G c.(103-105)ggC>ggG p.G35G DDX6_ENST00000534980.1_Silent_p.G35G|DDX6_ENST00000526070.2_Silent_p.G35G NM_004397.4 NP_004388.2 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 6 35 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) GTGTCTGTGTGCCCCCTCCTC 0.507000 T IGH@ B-NHL 54 69 0 0 1 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64597720 64597720 + Nonsense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:64597720G>A ENST00000342711.5 - 29 3312 c.3313C>T c.(3313-3315)Cga>Tga p.R1105* NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 1105 CNH. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 AGCGCAAGTCGATCctggtct 0.612000 16 11 0 0 1 0 0 OR11A1 26531 broad.mit.edu 37 6 29395011 29395011 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:29395011C>T ENST00000377149.1 - 5 880 c.408G>A c.(406-408)ctG>ctA p.L136L OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Silent_p.L136L|OR11A1_ENST00000377148.1_Silent_p.L136L Q9GZK7 O11A1_HUMAN olfactory receptor, family 11, subfamily A, member 1 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 19 TGGGCCCCATCAGGAGTGGGT 0.562000 15 65 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51612879 51612879 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:51612879G>A ENST00000371117.3 - 58 9810 c.9535C>T c.(9535-9537)Ctt>Ttt p.L3179F PKHD1_ENST00000340994.4_Missense_Mutation_p.L3179F NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3179 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) ACTGCCAAAAGACCAATAGTA 0.408000 78 110 0 0 1 0 0 SNAPC4 6621 broad.mit.edu 37 9 139290163 139290163 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr9:139290163G>A ENST00000298532.2 - 3 605 c.237C>T c.(235-237)ctC>ctT p.L79L NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 79 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) GGTCTTCAGGGAGGGTTTTAT 0.567000 183 22 0 0 1 0 0 ALDH9A1 223 broad.mit.edu 37 1 165638528 165638528 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:165638528G>A ENST00000354775.4 - 7 1394 c.1090C>T c.(1090-1092)Ctt>Ttt p.L364F ALDH9A1_ENST00000538148.1_Missense_Mutation_p.L270F NM_000696.3 NP_000687.3 P49189 AL9A1_HUMAN aldehyde dehydrogenase 9 family, member A1 340 carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process cytosol|plasma membrane 3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 21 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) NADH(DB00157) ACAAACCCAAGGACTCGCTCC 0.478000 51 86 0 0 1 0 0 GMEB1 10691 broad.mit.edu 37 1 29040709 29040709 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:29040709C>T ENST00000373816.1 + 10 1254 c.1116C>T c.(1114-1116)ctC>ctT p.L372L GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_Silent_p.L372L|GMEB1_ENST00000294409.2_Silent_p.L382L NM_024482.2 NP_077808.1 Q9Y692 GMEB1_HUMAN glucocorticoid modulatory element binding protein 1 382 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|metal ion binding|transcription coactivator activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4) 11 Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) GGCCCCGGCTCCAGCGGCCAG 0.557000 58 67 0 0 1 0 0 ASAP2 8853 broad.mit.edu 37 2 9543450 9543450 + Silent SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:9543450T>C ENST00000281419.3 + 28 3355 c.3015T>C c.(3013-3015)gcT>gcC p.A1005A ASAP2_ENST00000315273.4_Silent_p.A960A NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 1005 SH3. regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 ACTTTATCGCTGACTGAATTG 0.403000 24 31 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7707643 7707643 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:7707643C>T ENST00000572933.1 + 59 10502 c.9042C>T c.(9040-9042)atC>atT p.I3014I DNAH2_ENST00000389173.2_Silent_p.I3014I Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3014 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TGTTCAAGATCGACGAAACTA 0.532000 19 6 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158435445 158435445 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:158435445C>T ENST00000289451.2 + 1 174 c.94C>T c.(94-96)Ctg>Ttg p.L32L NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) TGTTATCTTCCTGCTCCTCTA 0.517000 46 67 0 0 1 0 0 ACSL5 51703 broad.mit.edu 37 10 114186994 114186994 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:114186994C>T ENST00000393081.1 + 21 2237 c.1930C>T c.(1930-1932)Cat>Tat p.H644Y ACSL5_ENST00000433418.1_Missense_Mutation_p.H620Y|ACSL5_ENST00000369410.3_Missense_Mutation_p.H426Y|ACSL5_ENST00000354273.4_Missense_Mutation_p.H644Y|ACSL5_ENST00000356116.1_Missense_Mutation_p.H700Y|ACSL5_ENST00000354655.4_Missense_Mutation_p.H644Y NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 644 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) CATTTTTCTTCATCCAGAGCC 0.448000 46 11 0 0 1 0 0 USP42 84132 broad.mit.edu 37 7 6183809 6183809 + Silent SNP C C T rs151011297 by1000genomes TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:6183809C>T ENST00000306177.5 + 9 1130 c.972C>T c.(970-972)acC>acT p.T324T NM_032172.2 NP_115548.1 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 324 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity p.T324T(1)|p.T452T(1) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 35 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) CAAATTTTACCGGTGGAAAAA 0.368000 11 16 0 0 1 0 0 SLC4A1 6521 broad.mit.edu 37 17 42337855 42337855 + Silent SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:42337855T>C ENST00000262418.6 - 6 557 c.402A>G c.(400-402)caA>caG p.Q134Q AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'UTR NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 134 bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) TGTCTAGCAGTTGGTTGGCCA 0.612000 22 20 0 0 1 0 0 RGL2 5863 broad.mit.edu 37 6 33263448 33263448 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:33263448G>A ENST00000497454.1 - 7 1352 c.857C>T c.(856-858)tCt>tTt p.S286F RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Missense_Mutation_p.S204F NM_001243738.1|NM_004761.4 NP_001230667.1|NP_004752.1 O15211 RGL2_HUMAN ral guanine nucleotide dissociation stimulator-like 2 286 Ras-GEF. Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 34 AGCTCGGACAGATGGGCAGAG 0.572000 18 68 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141215150 141215150 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:141215150C>T ENST00000389484.3 - 61 10667 c.9696G>A c.(9694-9696)ggG>ggA p.G3232G NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3232 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACTTGGTTTTCCCATCAGTCC 0.428000 TSP Lung(27;0.18) 50 78 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41719668 41719668 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr21:41719668C>T ENST00000400454.1 - 6 1616 c.1139G>A c.(1138-1140)gGg>gAg p.G380E NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 380 Ig-like C2-type 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GTATGCGCCCCCGTCACTTTT 0.507000 203 34 0 0 1 0 0 CHD1L 9557 broad.mit.edu 37 1 146759368 146759368 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:146759368C>T ENST00000369258.4 + 19 2296 c.2276C>T c.(2275-2277)tCc>tTc p.S759F CHD1L_ENST00000361293.5_Missense_Mutation_p.S478F|CHD1L_ENST00000369259.3_Missense_Mutation_p.S555F|CHD1L_ENST00000431239.1_Missense_Mutation_p.S665F|CHD1L_ENST00000467213.1_3'UTR NM_001256336.1|NM_004284.4|NM_024568.2 NP_001243265.1|NP_004275.4|NP_078844.2 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 1-like 759 Macro. chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(923;0.0487) GAAAAGCGATCCGCTGAGCCA 0.443000 20 26 0 0 1 0 0 TSR1 55720 broad.mit.edu 37 17 2237874 2237874 + Silent SNP G G A rs141850371 by1000genomes TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:2237874G>A ENST00000301364.4 - 5 1952 c.873C>T c.(871-873)atC>atT p.I291I NM_018128.4 NP_060598.3 Q2NL82 TSR1_HUMAN TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) 291 ribosome assembly nucleolus protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 20 CATATCCAACGATATGCAGCA 0.438000 100 99 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28723666 28723666 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr18:28723666G>A ENST00000257197.3 - 8 1289 c.1028C>T c.(1027-1029)tCa>tTa p.S343L DSC1_ENST00000257198.5_Missense_Mutation_p.S343L|RP11-408H20.2_ENST00000581836.1_RNA NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 343 Cadherin 2. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) ATCCTCAAGTGAAATAGTAAT 0.338000 21 38 0 0 1 0 0 PRSS54 221191 broad.mit.edu 37 16 58318621 58318621 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:58318621C>T ENST00000219301.4 - 6 921 c.527G>A c.(526-528)gGa>gAa p.G176E PRSS54_ENST00000567164.1_Missense_Mutation_p.G176E|PRSS54_ENST00000563336.1_5'UTR|PRSS54_ENST00000543437.1_Missense_Mutation_p.G77E NM_001080492.1 NP_001073961.1 Q6PEW0 PRS54_HUMAN protease, serine, 54 176 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CATGTGATTTCCTGTCTGGAC 0.478000 26 45 0 0 1 0 0 ZNF728 388523 broad.mit.edu 37 19 23159540 23159540 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:23159540G>A ENST00000594710.1 - 4 744 c.599C>T c.(598-600)tCc>tTc p.S200F NM_001267716.1 NP_001254645.1 zinc finger protein 728 ACTTTTGTAGGAATTCTCTCT 0.348000 21 19 0 0 1 0 0 MORC2 22880 broad.mit.edu 37 22 31330144 31330144 + Missense_Mutation SNP G G A rs142840638 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr22:31330144G>A ENST00000215862.4 - 21 3405 c.2042C>T c.(2041-2043)tCt>tTt p.S681F MORC2_ENST00000397641.2_Missense_Mutation_p.S743F NM_014941.1 NP_055756.1 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 743 ATP binding|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 TTCCTCATCAGAAACTGCGAC 0.537000 29 98 0 0 1 0 0 SYNJ1 8867 broad.mit.edu 37 21 34003369 34003369 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr21:34003369G>A ENST00000382491.3 - 28 4641 c.4517C>T c.(4516-4518)cCa>cTa p.P1506L SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.P1553L|SYNJ1_ENST00000433931.2_Missense_Mutation_p.P1592L NM_001160306.1 NP_001153778.1 O43426 SYNJ1_HUMAN synaptojanin 1 1553 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 AGGATCTACTGGAGGGCTGGT 0.512000 34 7 0 0 1 0 0 OR4C11 219429 broad.mit.edu 37 11 55371373 55371373 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:55371373G>A ENST00000302231.4 - 1 501 c.477C>T c.(475-477)atC>atT p.I159I NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 TTAAGGCCAGGATAATCTGAG 0.453000 44 56 0 0 1 0 0 TGM1 7051 broad.mit.edu 37 14 24730947 24730947 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:24730947G>A ENST00000206765.6 - 3 585 c.462C>T c.(460-462)tcC>tcT p.S154S TGM1_ENST00000544573.1_Intron NM_000359.2 NP_000350.1 P22735 TGM1_HUMAN transglutaminase 1 154 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2) 24 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) CATAGGTCCGGGACAGGAGGA 0.587000 71 53 0 0 1 0 0 PATZ1 23598 broad.mit.edu 37 22 31738934 31738934 + Missense_Mutation SNP C C G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr22:31738934C>G ENST00000266269.5 - 2 1913 c.1284G>C c.(1282-1284)ttG>ttC p.L428F PATZ1_ENST00000351933.4_Missense_Mutation_p.L428F|PATZ1_ENST00000405309.3_Missense_Mutation_p.L428F|PATZ1_ENST00000215919.3_Missense_Mutation_p.L428F NM_014323.2 NP_055138.2 Q9HBE1 PATZ1_HUMAN POZ (BTB) and AT hook containing zinc finger 1 428 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/PATZ1(2) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2) 12 TATGTCCGTTCAAGTGATCAG 0.527000 44 122 0 0 1 0 0 OGN 4969 broad.mit.edu 37 9 95165590 95165590 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr9:95165590C>T ENST00000262551.4 - 2 520 c.100G>A c.(100-102)Gga>Aga p.G34R CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Missense_Mutation_p.G34R NM_033014.2 NP_148935.1 P20774 MIME_HUMAN osteoglycin 34 extracellular space|proteinaceous extracellular matrix growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 13 TTATCTGTTCCATAATCATAG 0.363000 25 3 0 0 1 0 0 WDR63 126820 broad.mit.edu 37 1 85573801 85573801 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:85573801C>T ENST00000294664.6 + 15 1819 c.1639C>T c.(1639-1641)Cct>Tct p.P547S WDR63_ENST00000370596.1_Missense_Mutation_p.P508S|WDR63_ENST00000326813.8_Missense_Mutation_p.P508S NM_145172.3 NP_660155.2 Q8IWG1 WDR63_HUMAN WD repeat domain 63 547 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3) 36 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) TATTGAAATTCCTTTTGATGT 0.358000 38 53 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168105435 168105435 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:168105435G>A ENST00000409195.1 + 9 7622 c.7533G>A c.(7531-7533)agG>agA p.R2511R XIRP2_ENST00000295237.9_Silent_p.R2511R|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.R2289R NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2336 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CAGCACCCAGGAAAAAACAGA 0.358000 87 59 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10399321 10399321 + Silent SNP G G A rs145122906 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:10399321G>A ENST00000226207.5 - 35 5209 c.5115C>T c.(5113-5115)atC>atT p.I1705I CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1705 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.I1705I(1) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CCTGTTCTGCGATTTTCCTGC 0.532000 53 56 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43625862 43625862 + RNA SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:43625862C>T ENST00000586348.1 + 0 45 ATGGTAAGTCCCAGGTCCAAA 0.493000 64 190 0 0 1 0 0 WDHD1 11169 broad.mit.edu 37 14 55457990 55457990 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:55457990G>A ENST00000360586.3 - 12 1347 c.1282C>T c.(1282-1284)Ccc>Tcc p.P428S WDHD1_ENST00000420358.2_Missense_Mutation_p.P305S|WDHD1_ENST00000421192.1_Missense_Mutation_p.P305S|WDHD1_ENST00000359167.4_Silent_p.L7L NM_007086.3 NP_009017.1 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 428 cytoplasm|nucleoplasm DNA binding breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2) 42 TTTTGCCGGGGAGTTGGCATG 0.443000 33 20 0 0 1 0 0 NCAPG 64151 broad.mit.edu 37 4 17839386 17839386 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:17839386G>A ENST00000251496.2 + 16 2604 c.2428G>A c.(2428-2430)Gga>Aga p.G810R NM_022346.3 NP_071741.2 Q9BPX3 CND3_HUMAN non-SMC condensin I complex, subunit G 810 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 27 STAD - Stomach adenocarcinoma(129;0.18) AAGACCAAGTGGATTAAATCC 0.413000 72 86 0 0 1 0 0 PLA2G15 23659 broad.mit.edu 37 16 68289777 68289777 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:68289777C>T ENST00000219345.5 + 5 694 c.611C>T c.(610-612)aCg>aTg p.T204M PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000413021.2_Intron|PLA2G15_ENST00000566188.1_Intron NM_012320.3 NP_036452.1 Q8NCC3 PAG15_HUMAN phospholipase A2, group XV 204 fatty acid catabolic process extracellular region|lysosome lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 12 AACATGTACACGCTCTACTTT 0.637000 40 32 0 0 1 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186919851 186919851 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:186919851G>A ENST00000367466.3 + 13 1479 c.1327G>A c.(1327-1329)Gaa>Aaa p.E443K PLA2G4A_ENST00000442353.2_Missense_Mutation_p.E383K NM_024420.2 NP_077734.1 P47712 PA24A_HUMAN phospholipase A2, group IVA (cytosolic, calcium-dependent) 443 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity p.E443K(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) TGAATCACACGAACCCAAAGG 0.393000 23 36 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62199887 62199887 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr20:62199887C>T ENST00000467148.1 - 5 1623 c.1554G>A c.(1552-1554)aaG>aaA p.K518K RP4-697K14.12_ENST00000454223.1_RNA NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CCAGCTCCTGCTTGCGGTTGC 0.687000 11 10 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92533040 92533040 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:92533040C>T ENST00000298047.6 + 9 6878 c.6861C>T c.(6859-6861)ttC>ttT p.F2287F FAT3_ENST00000525166.1_Silent_p.F2137F|FAT3_ENST00000409404.2_Silent_p.F2287F Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2287 Cadherin 20. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CCCCTATTTTCGATCAGCCTA 0.413000 TCGA Ovarian(4;0.039) 11 13 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9019631 9019631 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:9019631G>A ENST00000397910.4 - 22 37718 c.37515C>T c.(37513-37515)ttC>ttT p.F12505F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12507 cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCCGATGGGTGAAACCTGCAT 0.502000 31 52 0 0 1 0 0 DGCR2 9993 broad.mit.edu 37 22 19048382 19048382 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr22:19048382G>A ENST00000545799.1 - 6 903 c.703C>T c.(703-705)Cgt>Tgt p.R235C DGCR2_ENST00000473832.1_Intron|DGCR2_ENST00000537045.1_Intron|DGCR2_ENST00000263196.7_Intron P98153 IDD_HUMAN DiGeorge syndrome critical region gene 2 0 C-type lectin. cell adhesion|organ morphogenesis integral to membrane receptor activity|sugar binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1) 18 Colorectal(54;0.0993) CTGCGGAAACGAGCTCCCAAC 0.587000 17 14 0 0 1 0 0 CCR6 1235 broad.mit.edu 37 6 167550575 167550575 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:167550575G>A ENST00000341935.5 + 3 1409 c.857G>A c.(856-858)cGa>cAa p.R286Q CCR6_ENST00000400926.2_Missense_Mutation_p.R286Q|CCR6_ENST00000349984.4_Missense_Mutation_p.R286Q NM_031409.3 NP_113597.2 P51684 CCR6_HUMAN chemokine (C-C motif) receptor 6 286 cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response integral to plasma membrane C-C chemokine receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 14 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) AAAATGAACCGATCCTGCCAG 0.468000 33 78 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33246025 33246025 + Silent SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:33246025A>G ENST00000404816.2 + 3 968 c.615A>G c.(613-615)caA>caG p.Q205Q LTBP1_ENST00000354476.3_Silent_p.Q205Q Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 205 EGF-like 1. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TCCGGCCACAACTCTGTGTGT 0.522000 145 222 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 104897710 104897710 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:104897710G>A ENST00000507740.1 + 2 543 c.307G>A c.(307-309)Gac>Aac p.D103N RIMS2_ENST00000406091.3_Missense_Mutation_p.D295N|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000436393.2_Missense_Mutation_p.D73N|RIMS2_ENST00000262231.10_Missense_Mutation_p.D103N NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 326 RabBD. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AAGTTATAGGGACTCCAACAG 0.408000 HNSCC(12;0.0054) 51 73 0 0 1 0 0 INO80D 54891 broad.mit.edu 37 2 206869793 206869793 + Nonsense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:206869793G>A ENST00000403263.1 - 11 2787 c.2383C>T c.(2383-2385)Cag>Tag p.Q795* NM_017759.4 NP_060229.3 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 795 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 26 TGTGGCCTCTGGGAGGCATGG 0.562000 86 170 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82841443 82841443 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:82841443G>A ENST00000265077.3 + 9 9918 c.9353G>A c.(9352-9354)gGa>gAa p.G3118E VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Missense_Mutation_p.G377E|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.G2131E|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Missense_Mutation_p.G1364E|VCAN_ENST00000512590.2_Missense_Mutation_p.G1316E NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 3118 EGF-like 1. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TGTGTGCCAGGATACAGCGGA 0.463000 101 55 0 0 1 0 0 TSR3 115939 broad.mit.edu 37 16 1400846 1400846 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:1400846G>A ENST00000007390.2 - 3 594 c.488C>T c.(487-489)tCc>tTc p.S163F NM_001001410.2 NP_001001410.1 TSR3, 20S rRNA accumulation, homolog (S. cerevisiae) TTCCACGCAGGAAAGTCTGTA 0.632000 19 46 0 0 1 0 0 SESTD1 91404 broad.mit.edu 37 2 180047865 180047865 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:180047865C>T ENST00000428443.3 - 3 422 c.106G>A c.(106-108)Gaa>Aaa p.E36K SESTD1_ENST00000486468.1_5'UTR NM_178123.4 NP_835224.3 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 36 CRAL-TRIO. regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding p.E36K(1) breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3) 30 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) TTTGTCTGTTCGAGGCATAAT 0.358000 38 69 0 0 1 0 0 CA8 767 broad.mit.edu 37 8 61178537 61178537 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:61178537C>T ENST00000317995.4 - 3 628 c.364G>A c.(364-366)Gaa>Aaa p.E122K NM_004056.4 NP_004047.3 P35219 CAH8_HUMAN carbonic anhydrase VIII 122 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1) 16 all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474) CGCTGGTTTTCTCTTCCCCAG 0.378000 31 45 0 0 1 0 0 PRPF4B 8899 broad.mit.edu 37 6 4031811 4031811 + Silent SNP T T G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:4031811T>G ENST00000337659.6 + 2 160 c.60T>G c.(58-60)tcT>tcG p.S20S PRPF4B_ENST00000538861.1_Silent_p.S6S NM_003913.4 NP_003904.3 Q13523 PRP4B_HUMAN pre-mRNA processing factor 4B 20 catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 22 Ovarian(93;0.0925) all_hematologic(90;0.0895) ATGCTAATTCTGAAAAGAGTA 0.289000 18 60 0 0 1 0 0 ITIH2 3698 broad.mit.edu 37 10 7769757 7769757 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:7769757G>A ENST00000358415.4 + 11 1411 c.1245G>A c.(1243-1245)ctG>ctA p.L415L ITIH2_ENST00000379587.4_Silent_p.L404L NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 415 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CCGTCTCGCTGATCATTTTGG 0.453000 21 4 0 0 1 0 0 IGKV1D-42 28892 broad.mit.edu 37 2 90229387 90229387 + RNA SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:90229387C>T ENST00000390278.2 + 0 227 CTAAGCTCTTCCTCTATGATG 0.502000 30 51 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9057312 9057312 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:9057312G>A ENST00000397910.4 - 3 30337 c.30134C>T c.(30133-30135)tCc>tTc p.S10045F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10047 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AAAAGAGGAGGAAGGGATACT 0.468000 19 41 0 0 1 0 0 LRTM1 57408 broad.mit.edu 37 3 54952773 54952773 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:54952773G>A ENST00000273286.5 - 3 913 c.751C>T c.(751-753)Cac>Tac p.H251Y CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.H175Y|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000288197.5_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 251 integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) ACCACACCGTGGGCAGAGCCG 0.632000 22 29 0 0 1 0 0 H2AFY2 55506 broad.mit.edu 37 10 71835472 71835472 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:71835472G>A ENST00000373255.4 + 2 322 c.58G>A c.(58-60)Ggt>Agt p.G20S NM_018649.2 NP_061119.1 Q9P0M6 H2AW_HUMAN H2A histone family, member Y2 20 Histone H2A. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1) 15 AGCTAGGGCAGGTGTCATCTT 0.562000 30 8 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72049838 72049838 + Splice_Site SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr13:72049838C>T ENST00000305425.4 - 9 2442 c.2020_splice c.e9+1 p.D674_splice DACH1_ENST00000313174.7_Splice_Site_p.D526_splice|DACH1_ENST00000359684.2_Splice_Site_p.D726_splice|DACH1_ENST00000354591.4_Splice_Site_p.D472_splice NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 724 DACHbox-C.|Interaction with SIN3A (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) ACCCTCTTACCATTTAAGACC 0.378000 196 114 0 0 1 0 0 KCNIP4 80333 broad.mit.edu 37 4 20852243 20852243 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:20852243C>T ENST00000382148.3 - 2 472 c.136G>A c.(136-138)Gaa>Aaa p.E46K KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000447367.2_Missense_Mutation_p.E37K|KCNIP4_ENST00000509207.1_Missense_Mutation_p.E9K|KCNIP4_ENST00000359001.5_Missense_Mutation_p.E9K|KCNIP4_ENST00000382150.4_Missense_Mutation_p.E50K|KCNIP4_ENST00000382152.2_Missense_Mutation_p.E71K NM_001035003.1 NP_001030175.1 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 71 plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(46;0.134) TCAAGGGCTTCAGGCCGATGC 0.468000 36 43 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12626182 12626182 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:12626182C>T ENST00000425538.1 + 5 472 c.272C>T c.(271-273)tCc>tTc p.S91F MYOCD_ENST00000395988.1_5'UTR|MYOCD_ENST00000343344.4_Missense_Mutation_p.S91F NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 91 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GCAGAGAGGTCCATTCCAACT 0.443000 84 102 0 0 1 0 0 KRT7 3855 broad.mit.edu 37 12 52635399 52635399 + Silent SNP T T A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:52635399T>A ENST00000331817.5 + 5 1020 c.837T>A c.(835-837)gcT>gcA p.A279A NM_005556.3 NP_005547.3 P08729 K2C7_HUMAN keratin 7 279 Coil 2.|Rod. cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation Golgi apparatus|keratin filament|nucleus protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(357;0.105) GGGCTGAGGCTGAAGCCTGGT 0.592000 15 62 0 0 1 0 0 TMC2 117532 broad.mit.edu 37 20 2604977 2604977 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr20:2604977C>T ENST00000358864.1 + 17 2256 c.2241C>T c.(2239-2241)ttC>ttT p.F747F NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 747 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 TCCCAACCTTCCTGGGCAAGA 0.498000 65 77 0 0 1 0 0 SLX4IP 128710 broad.mit.edu 37 20 10603512 10603512 + Nonsense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr20:10603512C>T ENST00000334534.5 + 8 892 c.712C>T c.(712-714)Caa>Taa p.Q238* NM_001009608.1 NP_001009608.1 SLX4 interacting protein GCTTCCTGTTCAAAAGCTGGA 0.517000 58 71 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7623135 7623135 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:7623135C>T ENST00000572933.1 + 2 1543 c.83C>T c.(82-84)gCt>gTt p.A28V DNAH2_ENST00000389173.2_Missense_Mutation_p.A28V|DNAH2_ENST00000082259.3_Missense_Mutation_p.A28V|DNAH2_ENST00000570791.1_Missense_Mutation_p.A28V Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 28 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GCCACTCGGGCTGCTGTGGCC 0.637000 25 2 0 0 1 0 0 MACC1 346389 broad.mit.edu 37 7 20198969 20198969 + Missense_Mutation SNP C C A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:20198969C>A ENST00000400331.5 - 5 1323 c.1015G>T c.(1015-1017)Gac>Tac p.D339Y MACC1_ENST00000332878.4_Missense_Mutation_p.D339Y|MACC1_ENST00000589011.1_Missense_Mutation_p.D339Y NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 339 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 TGACTCAAGTCGATTAGCTTG 0.418000 28 39 8.58068e-18 8.67565e-18 1 1 0 ZFP14 57677 broad.mit.edu 37 19 36831434 36831434 + Missense_Mutation SNP C C G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:36831434C>G ENST00000270001.7 - 5 1409 c.1294G>C c.(1294-1296)Gcc>Ccc p.A432P NM_020917.2 NP_065968.1 Q9HCL3 ZFP14_HUMAN ZFP14 zinc finger protein 432 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 26 Esophageal squamous(110;0.162) AGTCTAAAGGCCTTTCCACAC 0.398000 50 62 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179484609 179484609 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:179484609G>A ENST00000589042.1 - 250 46659 c.46435C>T c.(46435-46437)Cct>Tct p.P15479S TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P13838S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P6539S|TTN_ENST00000342992.6_Missense_Mutation_p.P12911S|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P6414S|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P6606S|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13838 Fibronectin type-III 12. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATCTCAACAGGAATTTCTGGA 0.308000 65 36 0 0 1 0 0 DDX60L 91351 broad.mit.edu 37 4 169312701 169312701 + Missense_Mutation SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:169312701T>C ENST00000511577.1 - 29 4152 c.3905A>G c.(3904-3906)aAt>aGt p.N1302S DDX60L_ENST00000505890.1_Missense_Mutation_p.N1303S|DDX60L_ENST00000260184.7_Missense_Mutation_p.N1302S Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 1302 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) CTGTCTGTAATTTAAAGCATC 0.433000 10 12 0 0 1 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735698 55735698 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:55735698C>T ENST00000312345.2 - 1 292 c.242G>A c.(241-243)gGa>gAa p.G81E NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G81E(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) AGAAATATTTCCTTTCTGAGT 0.383000 34 59 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28968918 28968918 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr18:28968918G>A ENST00000359747.4 + 5 483 c.454G>A c.(454-456)Gat>Aat p.D152N DSG4_ENST00000308128.4_Missense_Mutation_p.D152N|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 152 Cadherin 1. Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GGACATAAATGATAACGCTCC 0.408000 63 92 0 0 1 0 0 PRG2 5553 broad.mit.edu 37 11 57156634 57156634 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:57156634C>T ENST00000311862.5 - 3 288 c.215G>A c.(214-216)gGg>gAg p.G72E RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.G177E|PRG2_ENST00000533605.1_Missense_Mutation_p.G72E|PRG2_ENST00000525955.1_Missense_Mutation_p.G72E NM_001243245.1|NM_002728.4 NP_001230174.1|NP_002719.3 proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4) 10 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) CTCAACAGCCCCATCTTTCTT 0.552000 54 77 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25439026 25439026 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr13:25439026C>T ENST00000255324.5 + 29 4043 c.3991C>T c.(3991-3993)Cca>Tca p.P1331S RNF17_ENST00000381921.1_Intron|RNF17_ENST00000339524.3_Intron NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1331 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) ACCTAAAAATCCATGGGAGAA 0.289000 41 121 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47849990 47849990 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr21:47849990G>A ENST00000359568.5 + 36 7864 c.7757G>A c.(7756-7758)aGt>aAt p.S2586N PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2586 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) AAGACGCTGAGTGAAGAGCAA 0.517000 5 47 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123785911 123785911 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:123785911C>T ENST00000422452.2 - 8 1495 c.1432G>A c.(1432-1434)Gat>Aat p.D478N TENM1_ENST00000371130.3_Missense_Mutation_p.D478N NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TGCTGTGTATCATCAGAGCCC 0.433000 40 5 0 0 1 0 0 COL8A2 1296 broad.mit.edu 37 1 36563663 36563663 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:36563663C>T ENST00000397799.1 - 4 1843 c.1619G>A c.(1618-1620)gGc>gAc p.G540D COL8A2_ENST00000481785.1_Missense_Mutation_p.G475D|COL8A2_ENST00000303143.4_Missense_Mutation_p.G540D P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 540 Nonhelical region (NC1). angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GCCTGCGATGCCAGTCTCATC 0.736000 9 16 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142186798 142186798 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:142186798G>A ENST00000519811.1 + 15 2714 c.2644G>A c.(2644-2646)Gac>Aac p.D882N DENND3_ENST00000262585.2_Missense_Mutation_p.D802N|DENND3_ENST00000424248.1_Missense_Mutation_p.D750N A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 802 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) AACCGAGTGTGACCTTTGGCA 0.522000 71 92 0 0 1 0 0 SERPINB7 8710 broad.mit.edu 37 18 61449714 61449714 + Silent SNP C C T rs145018483 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr18:61449714C>T ENST00000398019.2 + 2 433 c.108C>T c.(106-108)ttC>ttT p.F36F SERPINB7_ENST00000540675.1_Silent_p.F36F|SERPINB7_ENST00000336429.2_Silent_p.F36F|SERPINB7_ENST00000546027.1_Silent_p.F36F NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 36 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) TGAGCCTCTTCGCTGCCCTGG 0.488000 31 6 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143018840 143018840 + Missense_Mutation SNP C C T rs143506735 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:143018840C>T ENST00000343257.2 + 5 682 c.595C>T c.(595-597)Cgt>Tgt p.R199C CLCN1_ENST00000495612.1_3'UTR NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 199 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) GACAATACTTCGTGGGGTTGT 0.507000 19 33 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156747707 156747707 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:156747707G>A ENST00000347377.6 + 15 1999 c.1568G>A c.(1567-1569)gGg>gAg p.G523E CYFIP2_ENST00000318218.6_Missense_Mutation_p.G523E|CYFIP2_ENST00000377576.3_Missense_Mutation_p.G523E|CYFIP2_ENST00000521420.1_Missense_Mutation_p.G497E|CYFIP2_ENST00000541131.1_Missense_Mutation_p.G448E|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Missense_Mutation_p.G197E|CYFIP2_ENST00000522463.1_Missense_Mutation_p.G327E NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 523 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGGGAGGGAGGGCGAGAGCCC 0.552000 16 34 0 0 1 0 0 OR10S1 219873 broad.mit.edu 37 11 123848091 123848091 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:123848091C>T ENST00000531945.1 - 1 397 c.308G>A c.(307-309)gGg>gAg p.G103E NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GATCACCTTCCCATCCAGAGT 0.547000 13 20 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71101260 71101260 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:71101260C>T ENST00000393567.2 - 15 2158 c.2008G>A c.(2008-2010)Gag>Aag p.E670K HYDIN_ENST00000288168.10_Missense_Mutation_p.E687K|HYDIN_ENST00000541601.1_Missense_Mutation_p.E687K|HYDIN_ENST00000538248.1_Missense_Mutation_p.E697K|HYDIN_ENST00000448691.1_Missense_Mutation_p.E670K|HYDIN_ENST00000448089.2_Missense_Mutation_p.E670K|HYDIN_ENST00000393550.2_Missense_Mutation_p.E685K|HYDIN_ENST00000321489.5_Missense_Mutation_p.E670K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 670 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AGTGCCAGCTCGTATTTCTGC 0.527000 25 32 0 0 1 0 0 AMIGO1 57463 broad.mit.edu 37 1 110051176 110051176 + Missense_Mutation SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:110051176T>C ENST00000369864.4 - 2 708 c.359A>G c.(358-360)aAc>aGc p.N120S AMIGO1_ENST00000369862.1_Missense_Mutation_p.N120S Q86WK6 AMGO1_HUMAN adhesion molecule with Ig-like domain 1 120 axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis axon|integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) ACGCAGCTGGTTGGAGGAGAG 0.577000 35 48 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108214074 108214074 + Silent SNP C C T rs71855130 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:108214074C>T ENST00000278616.4 + 57 8779 c.8394C>T c.(8392-8394)gcC>gcT p.A2798A C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Silent_p.A2798A|C11orf65_ENST00000526725.1_Intron NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2798 PI3K/PI4K. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) ATTTCAGTGCCTTTCAGTGCC 0.368000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 46 64 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160257130 160257130 + Nonsense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:160257130G>A ENST00000392783.2 - 17 3373 c.2878C>T c.(2878-2880)Cga>Tga p.R960* AC008277.1_ENST00000420020.1_RNA|AC008277.1_ENST00000594921.1_RNA|BAZ2B_ENST00000343439.5_Nonsense_Mutation_p.R860*|BAZ2B_ENST00000392782.1_Nonsense_Mutation_p.R924*|BAZ2B_ENST00000355831.2_Nonsense_Mutation_p.R926* NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 960 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 TGCTGAGCTCGAAGTTCTTTT 0.264000 15 27 0 0 1 0 0 C15orf59 388135 broad.mit.edu 37 15 74032661 74032661 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr15:74032661G>A ENST00000569673.1 - 3 1683 c.479C>T c.(478-480)tCc>tTc p.S160F C15orf59_ENST00000379822.4_Missense_Mutation_p.S160F|C15orf59_ENST00000558834.1_5'UTR Q2T9L4 CO059_HUMAN chromosome 15 open reading frame 59 160 breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CTCCTCACTGGAGGAGTCTGG 0.667000 50 42 0 0 1 0 0 POU5F2 134187 broad.mit.edu 37 5 93076785 93076785 + Missense_Mutation SNP G G C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:93076785G>C ENST00000510627.4 - 1 558 c.485C>G c.(484-486)aCg>aGg p.T162R POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000505869.1_Intron NM_153216.1 NP_694948.1 Q8N7G0 PO5F2_HUMAN POU domain class 5, transcription factor 2 162 POU-specific. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19) GCAGATGGTCGTCTGGCTAAG 0.577000 17 15 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66950205 66950205 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:66950205C>T ENST00000299752.4 - 4 450 c.257G>A c.(256-258)cGa>cAa p.R86Q CDH16_ENST00000570262.1_Intron|CDH16_ENST00000394055.3_Missense_Mutation_p.R86Q|CDH16_ENST00000565796.1_Missense_Mutation_p.R86Q|CDH16_ENST00000568632.1_Missense_Mutation_p.R86Q NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 86 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R86Q(1) endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) CTGCTCCTCTCGGTCCAGGGC 0.622000 20 31 0 0 1 0 0 ZNF263 10127 broad.mit.edu 37 16 3340184 3340184 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:3340184C>T ENST00000219069.5 + 6 2554 c.1678C>T c.(1678-1680)Ccc>Tcc p.P560S ZNF263_ENST00000538765.1_Missense_Mutation_p.P208S NM_005741.4 NP_005732.2 O14978 ZN263_HUMAN zinc finger protein 263 560 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3) 20 TGACAGCACCCCCTTTCTTAC 0.498000 31 26 0 0 1 0 0 AZI1 22994 broad.mit.edu 37 17 79181018 79181018 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:79181018G>A ENST00000269392.4 - 4 541 c.294C>T c.(292-294)ttC>ttT p.F98F AZI1_ENST00000374782.3_Silent_p.F98F|AZI1_ENST00000450824.2_Silent_p.F98F|AZI1_ENST00000575907.1_Silent_p.F98F NM_014984.2 NP_055799.2 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 98 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5) 36 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) AGAGCATCAGGAAGTCTGTGG 0.632000 20 38 0 0 1 0 0 PPEF1 5475 broad.mit.edu 37 X 18842119 18842119 + Missense_Mutation SNP C C T rs142716113 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:18842119C>T ENST00000361511.4 + 17 2074 c.1580C>T c.(1579-1581)tCg>tTg p.S527L PPEF1_ENST00000349874.5_Missense_Mutation_p.S465L|PPEF1_ENST00000544635.1_Missense_Mutation_p.S462L|PPEF1_ENST00000359763.6_Missense_Mutation_p.S474L|PPEF1_ENST00000543630.1_3'UTR NM_006240.2|NM_152224.1 NP_006231.2|NP_689410.1 O14829 PPE1_HUMAN protein phosphatase, EF-hand calcium binding domain 1 527 detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 43 Hepatocellular(33;0.183) TCCCTCAGTTCGAATCTGGTA 0.413000 80 9 0 0 1 0 0 SOX30 11063 broad.mit.edu 37 5 157078188 157078188 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:157078188G>A ENST00000265007.6 - 1 1240 c.899C>T c.(898-900)tCc>tTc p.S300F SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.S300F NM_178424.1 NP_848511.1 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 300 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTCCAGTAGGGACTGCATTTT 0.537000 79 59 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126411405 126411405 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:126411405G>A ENST00000394329.3 + 17 13441 c.13428G>A c.(13426-13428)ggG>ggA p.G4476G FAT4_ENST00000335110.5_Silent_p.G2717G NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4476 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GTCCTCAGGGGAAGGTGTGCA 0.612000 68 81 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92436196 92436196 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:92436196G>A ENST00000267622.4 - 21 6134 c.5761C>T c.(5761-5763)Ccg>Tcg p.P1921S NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1921 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) GCCAAAAACGGATTTACATCT 0.433000 T PDGFRB AML 22 12 0 0 1 0 0 DPPA3P2 400206 broad.mit.edu 37 14 36841013 36841013 + RNA SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:36841013C>T ENST00000557188.1 + 0 644 TTCAAATGTCCCTGCAGTTTC 0.433000 29 105 0 0 1 0 0 ATP13A2 23400 broad.mit.edu 37 1 17313584 17313584 + Missense_Mutation SNP C C G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:17313584C>G ENST00000452699.1 - 26 3214 c.3025G>C c.(3025-3027)Ggc>Cgc p.G1009R RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.G970R|ATP13A2_ENST00000326735.8_Missense_Mutation_p.G1014R NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 1014 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) AGCTGCACGCCGGTCACCAGG 0.706000 31 32 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237947151 237947151 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:237947151G>A ENST00000366574.2 + 90 12456 c.12139G>A c.(12139-12141)Gac>Aac p.D4047N RYR2_ENST00000360064.6_Missense_Mutation_p.D4053N|RYR2_ENST00000542537.1_Missense_Mutation_p.D4031N NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4047 EF-hand. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTCCAAGAGGGACTTCCACAA 0.423000 16 24 0 0 1 0 0 CD200R1 131450 broad.mit.edu 37 3 112666712 112666712 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:112666712G>A ENST00000308611.3 - 2 391 c.127C>T c.(127-129)Cat>Tat p.H43Y CD200R1_ENST00000490004.1_Intron|CD200R1_ENST00000440122.2_Missense_Mutation_p.H43Y|CD200R1_ENST00000295863.4_Intron|CD200R1_ENST00000471858.1_Intron NM_138806.3 NP_620161.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 22 interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 CCTAAAGCATGATTCTCCTTG 0.378000 27 24 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22172955 22172955 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:22172955G>A ENST00000374695.3 - 63 8381 c.8302C>T c.(8302-8304)Ccc>Tcc p.P2768S HSPG2_ENST00000430507.1_3'UTR NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 2768 Ig-like C2-type 13. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TGGTGACTGGGGAGGCTGCCC 0.657000 52 65 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73043595 73043595 + RNA SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:73043595C>T ENST00000604411.1 + 0 31556 XIST_ENST00000429829.1_lincRNA NR_003255.2 AGTACACTGCCTTATATTAGT 0.378000 61 8 0 0 1 0 0 C2orf57 165100 broad.mit.edu 37 2 232458657 232458657 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:232458657C>T ENST00000313965.2 + 1 1083 c.995C>T c.(994-996)cCc>cTc p.P332L NM_152614.2 NP_689827.2 Q53QW1 CB057_HUMAN chromosome 2 open reading frame 57 332 endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 19 Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014) CGCTCGGTCCCCAGCCTGGTG 0.662000 58 118 0 0 1 0 0 OR10S1 219873 broad.mit.edu 37 11 123848214 123848214 + Missense_Mutation SNP A A T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:123848214A>T ENST00000531945.1 - 1 274 c.185T>A c.(184-186)gTg>gAg p.V62E NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GTCAGAGCCCACAGTTAGGAG 0.527000 14 20 0 0 1 0 0 SLC35F2 54733 broad.mit.edu 37 11 107686522 107686522 + Nonsense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:107686522G>A ENST00000525071.1 - 5 868 c.280C>T c.(280-282)Cga>Tga p.R94* SLC35F2_ENST00000525815.1_Nonsense_Mutation_p.R94*|SLC35F2_ENST00000429869.1_Nonsense_Mutation_p.R94*|SLC35F2_ENST00000375682.4_Nonsense_Mutation_p.R47*|SLC35F2_ENST00000265836.7_Intron Q8IXU6 S35F2_HUMAN solute carrier family 35, member F2 94 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217) ATACCTGATCGAAATGCCAGC 0.338000 58 81 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126320065 126320065 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:126320065G>A ENST00000394329.3 + 2 5315 c.5302G>A c.(5302-5304)Gat>Aat p.D1768N FAT4_ENST00000335110.5_Missense_Mutation_p.D66N NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1768 Cadherin 17. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CATGGATGCTGATGAGGTAGC 0.408000 59 92 0 0 1 0 0 PHLDB1 23187 broad.mit.edu 37 11 118499304 118499304 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:118499304C>T ENST00000361417.2 + 7 2176 c.1765C>T c.(1765-1767)Ctc>Ttc p.L589F PHLDB1_ENST00000356063.5_Missense_Mutation_p.L589F NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 589 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) TGAGGACGACCTCCTGGAGTA 0.622000 17 22 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216251618 216251618 + Nonsense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:216251618C>T ENST00000354785.4 - 28 4775 c.4406G>A c.(4405-4407)tGg>tAg p.W1469* FN1_ENST00000357009.2_Nonsense_Mutation_p.W1378*|FN1_ENST00000446046.1_Nonsense_Mutation_p.W1378*|FN1_ENST00000443816.1_Nonsense_Mutation_p.W1378*|FN1_ENST00000432072.2_Nonsense_Mutation_p.W1469*|FN1_ENST00000336916.4_Nonsense_Mutation_p.W1378*|FN1_ENST00000421182.1_Nonsense_Mutation_p.W1378*|FN1_ENST00000323926.6_Nonsense_Mutation_p.W1469*|FN1_ENST00000359671.1_Nonsense_Mutation_p.W1378*|FN1_ENST00000357867.4_Nonsense_Mutation_p.W1378*|FN1_ENST00000356005.4_Nonsense_Mutation_p.W1378*|FN1_ENST00000346544.3_Nonsense_Mutation_p.W1378*|FN1_ENST00000345488.5_Nonsense_Mutation_p.W1378* P02751 FINC_HUMAN fibronectin 1 1468 Cell-attachment.|Fibronectin type-III 10. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGGAGCAATCCAGTGCACAGT 0.512000 31 18 0 0 1 0 0 KCNC3 3748 broad.mit.edu 37 19 50827043 50827043 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:50827043G>A ENST00000376959.2 - 2 1330 c.1167C>T c.(1165-1167)atC>atT p.I389I KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000477616.1_Silent_p.I389I Q14003 KCNC3_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 3 389 cell death voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1) 13 all_neural(266;0.057)|Ovarian(192;0.208) OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181) AGAAGGGCAGGATGGCCACAC 0.592000 25 38 0 0 1 0 0 NOL9 79707 broad.mit.edu 37 1 6589100 6589100 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:6589100C>T ENST00000377705.5 - 10 1811 c.1779G>A c.(1777-1779)ggG>ggA p.G593G NM_024654.4 NP_078930.3 Q5SY16 NOL9_HUMAN nucleolar protein 9 593 maturation of 5.8S rRNA nucleolus ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1) 19 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649) GCAGGATGGGCCCATTCGTGT 0.493000 19 38 0 0 1 0 0 GAS2 2620 broad.mit.edu 37 11 22747949 22747949 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:22747949G>A ENST00000454584.2 + 4 684 c.379G>A c.(379-381)Gaa>Aaa p.E127K GAS2_ENST00000278187.3_Missense_Mutation_p.E127K|GAS2_ENST00000433790.1_Missense_Mutation_p.E127K NM_001143830.1 NP_001137302.1 O43903 GAS2_HUMAN growth arrest-specific 2 127 CH. cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1) 24 AGGGGTGGATGAAACGTGTCT 0.403000 57 63 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22817077 22817077 + Silent SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:22817077T>C ENST00000404138.1 + 3 1147 c.636T>C c.(634-636)gcT>gcC p.A212A ZBTB40_ENST00000374651.4_Silent_p.A212A|ZBTB40_ENST00000375647.4_Silent_p.A212A NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 212 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CAGCTGAAGCTTGTTCCCCCT 0.483000 63 79 0 0 1 0 0 MCF2 4168 broad.mit.edu 37 X 138678842 138678842 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:138678842C>T ENST00000520602.1 - 22 2608 c.2323G>A c.(2323-2325)Gat>Aat p.D775N MCF2_ENST00000370576.4_Missense_Mutation_p.D715N|MCF2_ENST00000536274.1_Missense_Mutation_p.D676N|MCF2_ENST00000338585.6_Missense_Mutation_p.D731N|MCF2_ENST00000519895.1_Missense_Mutation_p.D791N|MCF2_ENST00000414978.1_Missense_Mutation_p.D775N|MCF2_ENST00000370578.4_Missense_Mutation_p.D860N|MCF2_ENST00000370573.4_Missense_Mutation_p.D715N P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 715 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) CTAGCCAAATCCTTCATTTTT 0.408000 62 10 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9061119 9061119 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:9061119G>A ENST00000397910.4 - 3 26530 c.26327C>T c.(26326-26328)cCc>cTc p.P8776L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8778 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CGTGGTGAGGGGAGTAGAAAT 0.498000 51 71 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179453325 179453325 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:179453325C>T ENST00000589042.1 - 304 63351 c.63127G>A c.(63127-63129)Gaa>Aaa p.E21043K TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E19402K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E12103K|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E18475K|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E11978K|TTN_ENST00000342175.6_Missense_Mutation_p.E12170K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19402 Fibronectin type-III 52. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTCCAATTTCATTTTCTGCC 0.448000 186 132 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 69407239 69407239 + Silent SNP G G A rs61735044 byFrequency TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:69407239G>A ENST00000433211.1 - 2 207 c.33C>T c.(31-33)atC>atT p.I11I CTNNA3_ENST00000373744.4_Silent_p.I11I|CTNNA3_ENST00000545309.1_Silent_p.I11I NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 11 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 CCTGAGGATCGATATTCAATG 0.378000 4 53 0 0 1 0 0 PCED1B 91523 broad.mit.edu 37 12 47629501 47629501 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:47629501C>T ENST00000546455.1 + 4 1386 c.655C>T c.(655-657)Cgc>Tgc p.R219C PCED1B_ENST00000432328.1_Missense_Mutation_p.R219C PC-esterase domain containing 1B TTTCCACTTCCGCCACGCGAG 0.602000 6 12 0 0 1 0 0 OR6N1 128372 broad.mit.edu 37 1 158735842 158735842 + Missense_Mutation SNP A A T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:158735842A>T ENST00000335094.2 - 1 650 c.631T>A c.(631-633)Ttc>Atc p.F211I NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) ATCAGCAGGAAGGTGGCTAGG 0.493000 64 101 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9070509 9070509 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:9070509G>A ENST00000397910.4 - 3 17140 c.16937C>T c.(16936-16938)tCc>tTc p.S5646F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5648 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGATGTGGAGGAAACAGGAGA 0.517000 18 31 0 0 1 0 0 SHC4 399694 broad.mit.edu 37 15 49176513 49176513 + Missense_Mutation SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr15:49176513A>G ENST00000332408.4 - 4 1200 c.772T>C c.(772-774)Tca>Cca p.S258P NM_203349.3 NP_976224.3 Q6S5L8 SHC4_HUMAN SHC (Src homology 2 domain containing) family, member 4 258 PID. intracellular signal transduction cell junction|postsynaptic membrane breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 29 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) TTCATTCCTGAAAACTGAAGA 0.323000 28 1 0 0 1 0 0 AMDHD1 144193 broad.mit.edu 37 12 96350637 96350637 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:96350637G>A ENST00000266736.2 + 4 590 c.484G>A c.(484-486)Gac>Aac p.D162N NM_152435.2 NP_689648.2 Q96NU7 HUTI_HUMAN amidohydrolase domain containing 1 162 histidine catabolic process to glutamate and formamide cytosol imidazolonepropionase activity|metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1) 22 ATATGGCCTCGACCTGGAGAC 0.632000 36 84 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 42080539 42080539 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr21:42080539C>T ENST00000400454.1 - 2 679 c.202G>A c.(202-204)Gat>Aat p.D68N NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 68 Ig-like C2-type 1. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.D68N(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CCGGGGACATCGTAGATCTCC 0.562000 4 100 0 0 1 0 0 ITGB3 3690 broad.mit.edu 37 17 45376805 45376805 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:45376805G>A ENST00000559488.1 + 11 1838 c.1822G>A c.(1822-1824)Gaa>Aaa p.E608K ITGB3_ENST00000560629.1_Silent_p.*596*|ITGB3_ENST00000435993.2_Missense_Mutation_p.E561K NM_000212.2 NP_000203.2 P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 608 Cysteine-rich tandem repeats. activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) CGGCAAGTGTGAATGTGGCAG 0.592000 71 99 0 0 1 0 0 CDC27 996 broad.mit.edu 37 17 45201287 45201287 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:45201287G>A ENST00000066544.3 - 17 2293 c.2200C>T c.(2200-2202)Ccc>Tcc p.P734S CDC27_ENST00000531206.1_Missense_Mutation_p.P740S|CDC27_ENST00000527547.1_Missense_Mutation_p.P733S|CDC27_ENST00000446365.2_Missense_Mutation_p.P673S NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 734 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 GATTCTTTGGGAACAATTTGT 0.328000 14 21 0 0 1 0 0 GABRG2 2566 broad.mit.edu 37 5 161576197 161576197 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:161576197G>A ENST00000356592.3 + 8 1466 c.1006G>A c.(1006-1008)Gat>Aat p.D336N GABRG2_ENST00000414552.2_Missense_Mutation_p.D376N|GABRG2_ENST00000361925.4_Missense_Mutation_p.D336N|GABRG2_ENST00000393933.4_Missense_Mutation_p.D241N NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 336 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) CACAGCGATGGATCTCTTTGT 0.478000 70 40 0 0 1 0 0 FAM46B 115572 broad.mit.edu 37 1 27333152 27333152 + Nonsense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:27333152C>T ENST00000289166.5 - 2 726 c.561G>A c.(559-561)tgG>tgA p.W187* NM_052943.3 NP_443175.2 Q96A09 FA46B_HUMAN family with sequence similarity 46, member B 187 breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419) AGATGAGGCTCCAGCGGTCCG 0.567000 77 105 0 0 1 0 0 MAP2K1 5604 broad.mit.edu 37 15 66729163 66729163 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr15:66729163C>T ENST00000307102.5 + 3 902 c.371C>T c.(370-372)cCg>cTg p.P124L NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 124 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 TGCAACTCTCCGTACATCGTG 0.512000 40 65 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121209082 121209082 + Silent SNP C C T rs149492812 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:121209082C>T ENST00000297848.3 + 6 759 c.489C>T c.(487-489)gtC>gtT p.V163V COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Silent_p.V163V|COL14A1_ENST00000247781.3_Silent_p.V163V|COL14A1_ENST00000309791.4_Silent_p.V163V NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 163 VWFA 1. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TAATCCTGGTCGATGGTTCAT 0.438000 102 141 0 0 1 0 0 IBSP 3381 broad.mit.edu 37 4 88732573 88732573 + Silent SNP G G A rs140447227 by1000genomes TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:88732573G>A ENST00000226284.5 + 7 532 c.465G>A c.(463-465)gaG>gaA p.E155E NM_004967.3 NP_004958.2 P21815 SIAL_HUMAN integrin-binding sialoprotein 155 Asp/Glu-rich (acidic).|Poly-Glu. biomineral tissue development|cell adhesion|ossification breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10) 21 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) aagaagaggaggaagaggaag 0.423000 22 27 0 0 1 0 0 NVL 4931 broad.mit.edu 37 1 224473770 224473770 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:224473770G>A ENST00000281701.6 - 15 2116 c.1857C>T c.(1855-1857)ctC>ctT p.L619L NVL_ENST00000340871.4_Silent_p.L430L|NVL_ENST00000469075.1_Silent_p.L528L|NVL_ENST00000482491.1_Silent_p.L343L|NVL_ENST00000391875.2_Silent_p.L513L|NVL_ENST00000361463.3_Silent_p.L513L NM_002533.3 NP_002524.2 O15381 NVL_HUMAN nuclear VCP-like 619 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1) 42 GBM - Glioblastoma multiforme(131;0.00501) GACCAGCAAGGAGGACCCCAG 0.453000 29 39 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9067818 9067818 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:9067818G>A ENST00000397910.4 - 3 19831 c.19628C>T c.(19627-19629)tCa>tTa p.S6543L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6545 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGTGGGGAGTGAAGTCAGATG 0.498000 24 23 0 0 1 0 0 CELA3A 10136 broad.mit.edu 37 1 22332274 22332274 + Missense_Mutation SNP C C T rs147890009 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:22332274C>T ENST00000290122.3 + 4 366 c.347C>T c.(346-348)tCg>tTg p.S116L CELA3A_ENST00000374663.1_Missense_Mutation_p.S116L NM_005747.4 NP_005738.4 chymotrypsin-like elastase family, member 3A endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TGGAACCGCTCGTGTGTGGCC 0.582000 68 93 0 0 1 0 0 OR2L2 26246 broad.mit.edu 37 1 248202348 248202348 + Missense_Mutation SNP G G A rs138166879 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:248202348G>A ENST00000366479.2 + 1 875 c.779G>A c.(778-780)cGt>cAt p.R260H OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) ACCTATGTACGTCCAAGATCC 0.493000 52 10 0 0 1 0 0 RRP12 23223 broad.mit.edu 37 10 99130479 99130479 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:99130479G>A ENST00000370992.4 - 22 2688 c.2577C>T c.(2575-2577)atC>atT p.I859I RRP12_ENST00000414986.1_Silent_p.I798I|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Silent_p.I759I|RRP12_ENST00000536831.1_Silent_p.I577I NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) 859 integral to membrane|nuclear membrane|nucleolus protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) TCACCTCTGGGATGAGGGCAG 0.582000 46 13 0 0 1 0 0 CLEC16A 23274 broad.mit.edu 37 16 11071176 11071176 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:11071176C>T ENST00000409790.1 + 8 1053 c.823C>T c.(823-825)Ctc>Ttc p.L275F CLEC16A_ENST00000409552.3_Missense_Mutation_p.L273F NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 275 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 CTGTGAGTTCCTCAACGATGT 0.552000 28 27 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140281142 140281142 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:140281142C>T ENST00000458420.3 + 13 2394 c.2204C>T c.(2203-2205)tCc>tTc p.S735F NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 735 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 GCAGGCTACTCCATCTACGGT 0.552000 HNSCC(16;0.037) 15 35 0 0 1 0 0 LRBA 987 broad.mit.edu 37 4 151818912 151818912 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:151818912G>A ENST00000535741.1 - 15 2456 c.1983C>T c.(1981-1983)ttC>ttT p.F661F LRBA_ENST00000510413.1_Silent_p.F661F|LRBA_ENST00000507224.1_Silent_p.F661F|LRBA_ENST00000357115.3_Silent_p.F661F P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 661 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) ATTGCTTAATGAACATCAACA 0.318000 19 31 0 0 1 0 0 LDLRAD4 753 broad.mit.edu 37 18 13387740 13387740 + Nonsense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr18:13387740C>T ENST00000361205.4 + 3 687 c.19C>T c.(19-21)Cag>Tag p.Q7* LDLRAD4_ENST00000359446.5_Nonsense_Mutation_p.Q7*|LDLRAD4_ENST00000399848.3_Nonsense_Mutation_p.Q7* NM_001276249.1|NM_181481.3 NP_001263178.1|NP_852146.1 low density lipoprotein receptor class A domain containing 4 AGCTGGTTTTCAGGCCACAAA 0.582000 48 60 0 0 1 0 0 ZNF222 7673 broad.mit.edu 37 19 44536709 44536709 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:44536709C>T ENST00000187879.8 + 4 1044 c.882C>T c.(880-882)ttC>ttT p.F294F ZNF222_ENST00000391960.3_Silent_p.F334F|ZNF223_ENST00000591793.1_Intron NM_013360.2 NP_037492.2 Q9UK12 ZN222_HUMAN zinc finger protein 222 294 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Prostate(69;0.0435) GAAGAGGTTTCATTGATAGGC 0.383000 71 114 0 0 1 0 0 SLC4A8 9498 broad.mit.edu 37 12 51853752 51853752 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:51853752G>A ENST00000453097.2 + 8 1090 c.873G>A c.(871-873)atG>atA p.M291I SLC4A8_ENST00000358657.3_Missense_Mutation_p.M318I|SLC4A8_ENST00000535225.2_Missense_Mutation_p.M238I|SLC4A8_ENST00000514353.3_Missense_Mutation_p.M238I|SLC4A8_ENST00000394856.1_Missense_Mutation_p.M238I NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 291 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) TTCATTTCATGAAAAAAATTC 0.413000 38 108 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34006766 34006766 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:34006766C>T ENST00000373381.4 - 59 9597 c.9421G>A c.(9421-9423)Gac>Aac p.D3141N NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3113 Sushi 25. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CATGTCCGGTCCTTGGTGCAG 0.498000 72 105 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30701292 30701292 + Nonsense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:30701292G>A ENST00000256246.2 - 1 5316 c.5242C>T c.(5242-5244)Caa>Taa p.Q1748* NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1748 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AATCTTCCTTGGAAACCAGGA 0.353000 26 4 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516880 140516880 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:140516880G>A ENST00000231134.5 + 1 2081 c.1864G>A c.(1864-1866)Gag>Aag p.E622K NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 622 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCACAATGGCGAGGTGCGCAC 0.706000 62 60 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211541835 211541835 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:211541835G>A ENST00000233072.5 + 37 4575 c.4379G>A c.(4378-4380)gGa>gAa p.G1460E CPS1_ENST00000451903.2_Missense_Mutation_p.G1009E|CPS1_ENST00000430249.2_Missense_Mutation_p.G1466E NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 1460 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) GTTGATAGTGGAATCCCTCTC 0.393000 129 65 0 0 1 0 0 TBC1D4 9882 broad.mit.edu 37 13 75866276 75866276 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr13:75866276C>T ENST00000377636.3 - 19 3794 c.3448G>A c.(3448-3450)Gat>Aat p.D1150N TBC1D4_ENST00000425511.1_Missense_Mutation_p.D314N|TBC1D4_ENST00000431480.2_Missense_Mutation_p.D1142N|TBC1D4_ENST00000377625.2_Missense_Mutation_p.D1087N NM_014832.2 NP_055647.2 O60343 TBCD4_HUMAN TBC1 domain family, member 4 1150 cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) GTATTCATATCAGGTAGCGTG 0.323000 55 22 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114284782 114284782 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:114284782C>T ENST00000393500.3 + 14 1627 c.807C>T c.(805-807)ggC>ggT p.G269G FOXP2_ENST00000360232.4_Silent_p.G344G|FOXP2_ENST00000393489.3_Silent_p.G252G|FOXP2_ENST00000408937.3_Silent_p.G369G|FOXP2_ENST00000378237.3_Silent_p.G344G|FOXP2_ENST00000393491.3_Silent_p.G252G|FOXP2_ENST00000403559.4_Silent_p.G361G|FOXP2_ENST00000393494.2_Silent_p.G344G|FOXP2_ENST00000350908.4_Silent_p.G344G|FOXP2_ENST00000390668.3_Silent_p.G368G|FOXP2_ENST00000393498.2_Silent_p.G323G O15409 FOXP2_HUMAN forkhead box P2 344 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA 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|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 CTCTCTATGGCCATGGAGTTT 0.458000 30 37 0 0 1 0 0 KAT5 10524 broad.mit.edu 37 11 65484141 65484141 + Missense_Mutation SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:65484141T>C ENST00000341318.4 + 9 1267 c.1033T>C c.(1033-1035)Tat>Cat p.Y345H KAT5_ENST00000530446.1_Missense_Mutation_p.Y293H|KAT5_ENST00000534650.1_Missense_Mutation_p.Y101H|KAT5_ENST00000352980.4_Missense_Mutation_p.Y260H|KAT5_ENST00000377046.3_Missense_Mutation_p.Y312H NM_182710.2 NP_874369.1 Q92993 KAT5_HUMAN K(lysine) acetyltransferase 5 312 androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9) 21 CTTGCAGAGTTATTCCCAGAA 0.498000 53 75 0 0 1 0 0 KRT78 196374 broad.mit.edu 37 12 53238382 53238382 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:53238382C>T ENST00000359499.4 - 5 563 c.552G>A c.(550-552)cgG>cgA p.R184R KRT78_ENST00000304620.4_Silent_p.R294R Q8N1N4 K2C78_HUMAN keratin 78 294 Coil 1B.|Rod. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 CCTTGCTGCTCCGGGCGATCT 0.612000 55 39 0 0 1 0 0 CREB3L2 64764 broad.mit.edu 37 7 137567225 137567225 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:137567225G>A ENST00000330387.6 - 11 1771 c.1420C>T c.(1420-1422)Ccc>Tcc p.P474S NM_194071.3 NP_919047.2 Q70SY1 CR3L2_HUMAN cAMP responsive element binding protein 3-like 2 474 chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L2(158) breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 ATGAAATGGGGAAGATCCACA 0.587000 T FUS fibromyxoid sarcoma 41 56 0 0 1 0 0 FCAMR 83953 broad.mit.edu 37 1 207135887 207135887 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:207135887G>A ENST00000324852.4 - 5 797 c.323C>T c.(322-324)tCa>tTa p.S108L FCAMR_ENST00000450945.2_Missense_Mutation_p.S108L|FCAMR_ENST00000400962.3_Missense_Mutation_p.S108L NM_001170631.1 NP_001164102.1 Q8WWV6 FCAMR_HUMAN Fc receptor, IgA, IgM, high affinity 63 Ig-like V-type. integral to membrane|plasma membrane receptor activity p.S84*(1)|p.S108*(1) endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1) 11 GCCCTTCAATGAATTTGGAGC 0.527000 9 15 0 0 1 0 0 ZNF165 7718 broad.mit.edu 37 6 28054000 28054000 + Silent SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:28054000T>C ENST00000377325.1 + 3 1018 c.462T>C c.(460-462)ccT>ccC p.P154P NM_003447.3 NP_003438.1 P49910 ZN165_HUMAN zinc finger protein 165 154 viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AAGTGTCACCTCCTGGACCAG 0.438000 39 76 0 0 1 0 0 PRRG3 79057 broad.mit.edu 37 X 150869415 150869415 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:150869415G>A ENST00000370353.3 + 4 996 c.606G>A c.(604-606)gaG>gaA p.E202E PRRG3_ENST00000538575.1_Silent_p.E202E Q9BZD7 TMG3_HUMAN proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) 202 extracellular region|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3) 24 Acute lymphoblastic leukemia(192;6.56e-05) CGCCCCAAGAGAGCAGCAGTG 0.617000 52 5 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72170466 72170466 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:72170466C>T ENST00000537465.1 - 9 1242 c.1084G>A c.(1084-1086)Gag>Aag p.E362K PMFBP1_ENST00000355636.6_Missense_Mutation_p.E217K|PMFBP1_ENST00000237353.10_Missense_Mutation_p.E362K Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 362 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) GATGTCTCCTCCCGCAGTCCG 0.582000 40 59 0 0 1 0 0 BCAM 4059 broad.mit.edu 37 19 45322372 45322372 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:45322372G>A ENST00000391955.1 + 11 1440 c.1396G>A c.(1396-1398)Gga>Aga p.G466R BCAM_ENST00000270233.6_Missense_Mutation_p.G466R P50895 BCAM_HUMAN basal cell adhesion molecule (Lutheran blood group) 466 Ig-like C2-type 3. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) CTGGAGGGAAGGAGACGAAGT 0.602000 121 133 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51287473 51287473 + Silent SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:51287473A>G ENST00000395542.2 - 2 394 c.210T>C c.(208-210)ccT>ccC p.P70P COBL_ENST00000395540.2_Silent_p.P70P|COBL_ENST00000441453.1_Silent_p.P70P|COBL_ENST00000265136.7_Silent_p.P70P O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 70 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) CCAGCCCACTAGGCAGGACCA 0.622000 29 104 0 0 1 0 0 CRP 1401 broad.mit.edu 37 1 159684231 159684231 + Silent SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:159684231A>G ENST00000255030.5 - 1 148 c.45T>C c.(43-45)caT>caC p.H15H CRP_ENST00000368110.1_Silent_p.H15H|CRP_ENST00000343919.2_Silent_p.H15H|CRP_ENST00000368111.1_Silent_p.H15H|CRP_ENST00000368112.1_Silent_p.H15H|CRP_ENST00000437342.1_Intron NM_000567.2 NP_000558.2 P02741 CRP_HUMAN C-reactive protein, pentraxin-related 15 acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1) 22 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) GGCCAAAAGCATGAGAGAGGC 0.498000 16 13 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179438979 179438979 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:179438979G>A ENST00000589042.1 - 326 72104 c.71880C>T c.(71878-71880)atC>atT p.I23960I TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.I22319I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.I15020I|TTN_ENST00000342992.6_Silent_p.I21392I|TTN_ENST00000460472.2_Silent_p.I14895I|TTN_ENST00000342175.6_Silent_p.I15087I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22319 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTTTTCAACGATATAACTGG 0.413000 59 35 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23898176 23898176 + Silent SNP G G A rs45508293 byFrequency TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:23898176G>A ENST00000355349.3 - 14 1557 c.1395C>T c.(1393-1395)ttC>ttT p.F465F NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 465 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.F465F(2) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CGAAGATCTCGAAGCCAGCGA 0.542000 31 28 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123810973 123810973 + Missense_Mutation SNP C C T rs138187932 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:123810973C>T ENST00000307033.2 + 1 724 c.650C>T c.(649-651)tCg>tTg p.S217L NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CTTCTGGGATCGTACACAGCA 0.517000 111 155 0 0 1 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155922468 155922468 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:155922468G>A ENST00000368316.1 - 19 2321 c.1851C>T c.(1849-1851)tcC>tcT p.S617S ARHGEF2_ENST00000313667.4_Silent_p.S644S|ARHGEF2_ENST00000313695.7_Silent_p.S617S|ARHGEF2_ENST00000368315.3_Silent_p.S646S|ARHGEF2_ENST00000361247.4_Silent_p.S645S Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 645 actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) GGGACTCAAGGGACTCAGAGC 0.637000 39 65 0 0 1 0 0 DHRS9 10170 broad.mit.edu 37 2 169938332 169938332 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:169938332C>T ENST00000327239.4 + 5 1745 c.241C>T c.(241-243)Ctt>Ttt p.L81F DHRS9_ENST00000602501.1_Missense_Mutation_p.L81F|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000428522.1_Missense_Mutation_p.L81F|DHRS9_ENST00000357546.2_Missense_Mutation_p.L81F|DHRS9_ENST00000432060.2_Missense_Mutation_p.L141F|DHRS9_ENST00000412271.1_Missense_Mutation_p.L81F|DHRS9_ENST00000436483.2_Missense_Mutation_p.L81F NM_005771.4 NP_005762.2 Q9BPW9 DHRS9_HUMAN dehydrogenase/reductase (SDR family) member 9 81 9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process integral to endoplasmic reticulum membrane|microsome alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 TCGTACTGTGCTTCTGGATGT 0.473000 64 40 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12854213 12854213 + Missense_Mutation SNP C C T rs147163117 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:12854213C>T ENST00000332296.7 + 3 540 c.437C>T c.(436-438)cCc>cTc p.P146L NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 146 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GAGCACCAGCCCTTAAAGGTG 0.542000 123 219 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38739651 38739651 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:38739651C>T ENST00000449082.2 - 27 5059 c.5060G>A c.(5059-5061)gGc>gAc p.G1687D NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1687 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CCCTCTGGTGCCATTGCTGTT 0.572000 36 62 0 0 1 0 0 KLHL23 151230 broad.mit.edu 37 2 170592400 170592400 + Nonsense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:170592400G>A ENST00000392647.2 + 2 1120 c.876G>A c.(874-876)tgG>tgA p.W292* KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Nonsense_Mutation_p.W292* NM_144711.5 NP_653312.2 Q8NBE8 KLH23_HUMAN kelch-like family member 23 292 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1) 16 TTCACATATGGGATCCTTTGA 0.413000 174 111 0 0 1 0 0 BMP1 649 broad.mit.edu 37 8 22035147 22035147 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:22035147C>T ENST00000354870.5 + 6 1064 c.798C>T c.(796-798)tcC>tcT p.S266S BMP1_ENST00000397816.3_Intron|BMP1_ENST00000306385.5_Intron|BMP1_ENST00000306349.8_Intron|BMP1_ENST00000397814.3_Intron P13497 BMP1_HUMAN bone morphogenetic protein 1 0 Metalloprotease. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) TCCCATGTTCCCTTGAGTCCT 0.612000 88 10 0 0 1 0 0 WDR7 23335 broad.mit.edu 37 18 54446734 54446734 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr18:54446734C>T ENST00000254442.3 + 18 3231 c.3020C>T c.(3019-3021)cCc>cTc p.P1007L WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.P974L NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 1007 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) TTTAGGCCTCCCCTTCTGGAG 0.403000 42 9 0 0 1 0 0 LDHC 3948 broad.mit.edu 37 11 18451355 18451355 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:18451355C>T ENST00000541669.1 + 4 427 c.316C>T c.(316-318)Cgc>Tgc p.R106C LDHC_ENST00000280704.4_Missense_Mutation_p.R106C|LDHC_ENST00000544105.1_Missense_Mutation_p.R106C|LDHC_ENST00000537486.1_Missense_Mutation_p.R106C|LDHC_ENST00000536880.1_Missense_Mutation_p.R92C|LDHC_ENST00000546146.1_Intron|LDHC_ENST00000535809.1_Missense_Mutation_p.R106C P07864 LDHC_HUMAN lactate dehydrogenase C 106 glycolysis cytoplasm binding|L-lactate dehydrogenase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 NADH(DB00157) GGGAGAAACTCGCCTTGCCCT 0.393000 44 59 0 0 1 0 0 PARP16 54956 broad.mit.edu 37 15 65558937 65558937 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr15:65558937G>A ENST00000261888.6 - 3 927 c.482C>T c.(481-483)tCc>tTc p.S161F PARP16_ENST00000558873.1_5'UTR|PARP16_ENST00000444347.2_Intron NM_017851.4 NP_060321.3 Q8N5Y8 PAR16_HUMAN poly (ADP-ribose) polymerase family, member 16 161 PARP catalytic. integral to membrane NAD+ ADP-ribosyltransferase activity kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 9 GTGGATAATGGAATGGAAGTT 0.507000 27 45 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34204825 34204825 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:34204825G>A ENST00000373381.4 - 15 2460 c.2284C>T c.(2284-2286)Ctt>Ttt p.L762F NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 722 CUB 5. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGAGTCCCAAGGAAGCCTTCA 0.607000 39 38 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30316594 30316594 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:30316594G>A ENST00000375377.1 - 3 2584 c.2483C>T c.(2482-2484)cCc>cTc p.P828L NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 828 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 CAAATCCCAGGGACGACGGCT 0.557000 6 126 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86124981 86124981 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr15:86124981C>T ENST00000394518.2 + 7 3777 c.3682C>T c.(3682-3684)Ccc>Tcc p.P1228S AKAP13_ENST00000361243.2_Missense_Mutation_p.P1228S NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 1228 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|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 AAGGAGCACTCCCTCTCTACC 0.607000 22 26 0 0 1 0 0 IGSF8 93185 broad.mit.edu 37 1 160061618 160061618 + Missense_Mutation SNP G G A rs150306822 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:160061618G>A ENST00000368086.1 - 6 2053 c.1837C>T c.(1837-1839)Cgg>Tgg p.R613W IGSF8_ENST00000314485.7_Missense_Mutation_p.R613W Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 613 cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) AGGGATCACCGTTTTCGAAGC 0.562000 34 48 0 0 1 0 0 IGFL1 374918 broad.mit.edu 37 19 46733596 46733596 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:46733596G>A ENST00000437936.1 + 3 168 c.145G>A c.(145-147)Gac>Aac p.D49N AC006262.10_ENST00000597337.1_RNA NM_198541.1 NP_940943.1 Q6UW32 IGFL1_HUMAN IGF-like family member 1 49 extracellular space protein binding lung(5) 5 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201) CAAGTTCTACGACCCCCTGCA 0.572000 77 87 0 0 1 0 0 CASP10 843 broad.mit.edu 37 2 202050808 202050808 + Missense_Mutation SNP A A T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:202050808A>T ENST00000286186.6 + 2 743 c.308A>T c.(307-309)gAg>gTg p.E103V CASP10_ENST00000346817.5_Missense_Mutation_p.E103V|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000272879.5_Missense_Mutation_p.E103V|CASP10_ENST00000313728.7_Missense_Mutation_p.E103V|CASP10_ENST00000374650.3_Missense_Mutation_p.E103V|CASP10_ENST00000360132.3_Missense_Mutation_p.E103V|CASP10_ENST00000448480.1_Missense_Mutation_p.E103V NM_032977.3 NP_116759.2 Q92851 CASPA_HUMAN caspase 10, apoptosis-related cysteine peptidase 103 apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 GAGGAAGTGGAGCGACTGCTG 0.527000 22 64 0 0 1 0 0 TBX18 9096 broad.mit.edu 37 6 85446770 85446770 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:85446770G>A ENST00000369663.5 - 8 1794 c.1457C>T c.(1456-1458)tCc>tTc p.S486F TBX18_ENST00000606784.1_Intron NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 486 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) AATCTGCATGGATAAGCTGGT 0.557000 69 76 0 0 1 0 0 TBR1 10716 broad.mit.edu 37 2 162273027 162273027 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:162273027G>A ENST00000389554.3 + 1 423 c.106G>A c.(106-108)Gat>Aat p.D36N NM_006593.2 NP_006584.1 Q16650 TBR1_HUMAN T-box, brain, 1 36 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 TGTCTTGCACGATCATCCCAT 0.468000 32 36 0 0 1 0 0 RANBP3L 202151 broad.mit.edu 37 5 36257658 36257658 + Splice_Site SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:36257658C>T ENST00000296604.3 - 9 1155 c.669_splice c.e9-1 p.G224_splice RANBP3L_ENST00000502994.1_Splice_Site_p.G249_splice|RANBP3L_ENST00000515759.1_Splice_Site_p.G224_splice NM_145000.3 NP_659437.3 Q86VV4 RNB3L_HUMAN RAN binding protein 3-like 224 intracellular transport endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 16 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) TTTTGAGTACCCTGAGAGCGG 0.333000 11 36 0 0 1 0 0 NT5DC2 64943 broad.mit.edu 37 3 52559077 52559077 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:52559077G>A ENST00000307076.4 - 12 1538 c.1138C>T c.(1138-1140)Ccc>Tcc p.P380S NT5DC2_ENST00000422318.2_Missense_Mutation_p.P417S|NT5DC2_ENST00000459839.1_Missense_Mutation_p.P392S|NT5DC2_ENST00000307092.4_Missense_Mutation_p.P321S NM_022908.2 NP_075059.1 Q9H857 NT5D2_HUMAN 5'-nucleotidase domain containing 2 380 hydrolase activity|metal ion binding endometrium(1)|lung(3)|prostate(1)|stomach(1) 6 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) TCCAGCTCGGGGATGATGGCG 0.687000 12 9 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186673384 186673384 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:186673384C>T ENST00000343098.5 + 17 19618 c.19618C>T c.(19618-19620)Cct>Tct p.P6540S FSIP2_ENST00000424728.1_Missense_Mutation_p.P6451S NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 TACAGCCTTTCCTAAAAAAGT 0.313000 31 60 0 0 1 0 0 AFF4 27125 broad.mit.edu 37 5 132270562 132270562 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:132270562G>A ENST00000265343.5 - 3 574 c.195C>T c.(193-195)ttC>ttT p.F65F AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Silent_p.F65F NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 65 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGTCTCCTATGAAATCCTTCA 0.333000 70 46 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82583815 82583815 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:82583815C>T ENST00000423517.2 - 5 6791 c.6454G>A c.(6454-6456)Gaa>Aaa p.E2152K PCLO_ENST00000333891.8_Missense_Mutation_p.E2152K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2083 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TCTTGAATTTCTCTTGTATAA 0.413000 34 49 0 0 1 0 0 OOEP 441161 broad.mit.edu 37 6 74078978 74078978 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:74078978C>T ENST00000370363.1 - 3 648 c.156G>A c.(154-156)aaG>aaA p.K52K OOEP_ENST00000370359.5_Silent_p.K107K A6NGQ2 OOEP_HUMAN oocyte expressed protein 107 KH; atypical. cytoplasm large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 8 GGAGCATGCTCTTCACCCGAT 0.567000 18 31 0 0 1 0 0 ARNT2 9915 broad.mit.edu 37 15 80845064 80845064 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr15:80845064C>T ENST00000533983.1 + 11 1344 c.1005C>T c.(1003-1005)atC>atT p.I335I ARNT2_ENST00000527771.1_Silent_p.I335I|ARNT2_ENST00000303329.4_Silent_p.I346I Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 346 PAS 2. central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) CCGATGGAATCATCACATTTG 0.463000 48 78 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79032713 79032713 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:79032713C>T ENST00000446378.2 + 2 8156 c.8125C>T c.(8125-8127)Cct>Tct p.P2709S NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2709 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CCAACCACGTCCTTTAGAAGA 0.408000 32 19 0 0 1 0 0 KCNH1 3756 broad.mit.edu 37 1 211093123 211093123 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:211093123C>T ENST00000367007.4 - 7 1409 c.1240G>A c.(1240-1242)Gaa>Aaa p.E414K KCNH1_ENST00000271751.4_Missense_Mutation_p.E441K NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 441 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) GGACCACCTTCCCACTTCCCT 0.527000 56 70 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78212361 78212361 + RNA SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr15:78212361C>T ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCGACATTTTCCACATCCTCT 0.498000 53 81 0 0 1 0 0 COL8A1 1295 broad.mit.edu 37 3 99513806 99513806 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:99513806G>A ENST00000261037.3 + 5 1441 c.1061G>A c.(1060-1062)gGc>gAc p.G354D COL8A1_ENST00000273342.4_Missense_Mutation_p.G354D NM_001850.4 NP_001841.2 P27658 CO8A1_HUMAN collagen, type VIII, alpha 1 354 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 GGGAAACCAGGCTTCCCAGGA 0.622000 19 20 0 0 1 0 0 ANKEF1 63926 broad.mit.edu 37 20 10023882 10023882 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr20:10023882C>T ENST00000378380.3 + 3 788 c.459C>T c.(457-459)ttC>ttT p.F153F ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Silent_p.F153F|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 AGCCAATATTCCTTAGAGCTT 0.418000 48 80 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3256960 3256960 + Nonsense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:3256960C>T ENST00000602557.1 - 17 2916 c.2361G>A c.(2359-2361)tgG>tgA p.W787* CSMD1_ENST00000539096.1_Nonsense_Mutation_p.W786*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.W786*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.W786*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.W787*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.W787*|CSMD1_ENST00000520002.1_Nonsense_Mutation_p.W787* Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 787 CUB 5. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTTCAATTATCCATTCACAAT 0.403000 41 6 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28588091 28588091 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr18:28588091G>A ENST00000434452.1 - 11 1708 c.1554C>T c.(1552-1554)atC>atT p.I518I DSC3_ENST00000360428.4_Silent_p.I518I NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 518 Cadherin 4. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) CATCAATGGTGATCCAACCTT 0.318000 18 19 0 0 1 0 0 OR7A17 26333 broad.mit.edu 37 19 14992139 14992139 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:14992139G>A ENST00000327462.2 - 1 125 c.29C>T c.(28-30)tCa>tTa p.S10L NM_030901.1 NP_112163.1 O14581 OR7AH_HUMAN olfactory receptor, family 7, subfamily A, member 17 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Ovarian(108;0.203) AACAAATTCTGAAATCCCTGT 0.368000 13 24 0 0 1 0 0 MYCN 4613 broad.mit.edu 37 2 16086021 16086021 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:16086021C>T ENST00000281043.3 + 3 1494 c.1197C>T c.(1195-1197)tcC>tcT p.S399S NM_005378.4 NP_005369.2 P04198 MYCN_HUMAN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog 399 Helix-loop-helix motif. regulation of transcription from RNA polymerase II promoter chromatin|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 31 all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(3;0.000332) ACCTTCGGTCCAGCTTTCTCA 0.572000 A neuroblastoma 77 90 0 0 1 0 0 CLCNKA 1187 broad.mit.edu 37 1 16353034 16353034 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:16353034C>T ENST00000375692.1 + 7 630 c.502C>T c.(502-504)Cct>Tct p.P168S CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.P125S|CLCNKA_ENST00000420078.1_Missense_Mutation_p.P168S|CLCNKA_ENST00000331433.4_Missense_Mutation_p.P168S P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 168 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) TCTGCAGGGCCCTTTCGTGCA 0.657000 48 37 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112669439 112669439 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:112669439G>A ENST00000550722.1 - 39 6035 c.5640C>T c.(5638-5640)atC>atT p.I1880I HECTD4_ENST00000430131.2_Silent_p.I1604I|HECTD4_ENST00000377560.5_Silent_p.I1854I NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 CAATGCTGACGATGAGGCCTG 0.552000 18 46 0 0 1 0 0 GALNT8 26290 broad.mit.edu 37 12 4835830 4835830 + Missense_Mutation SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:4835830A>G ENST00000252318.2 + 2 681 c.344A>G c.(343-345)cAa>cGa p.Q115R RP11-234B24.6_ENST00000544741.2_3'UTR NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 115 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 CACAAAACCCAAATGAAACTC 0.498000 15 9 0 0 1 0 0 ASPH 444 broad.mit.edu 37 8 62566184 62566184 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:62566184G>A ENST00000541428.1 - 4 431 c.271C>T c.(271-273)Ccg>Tcg p.P91S ASPH_ENST00000379454.4_Missense_Mutation_p.P120S|ASPH_ENST00000517847.2_Missense_Mutation_p.P106S|ASPH_ENST00000522835.1_Missense_Mutation_p.P106S|ASPH_ENST00000518068.1_Missense_Mutation_p.P120S|ASPH_ENST00000445642.3_Missense_Mutation_p.P106S|ASPH_ENST00000517903.1_Missense_Mutation_p.P106S|ASPH_ENST00000356457.5_Missense_Mutation_p.P120S NM_001164750.1 NP_001158222.1 Q12797 ASPH_HUMAN aspartate beta-hydroxylase 120 muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) TCTTCTGGCGGGACTGCTGGC 0.502000 37 39 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86375685 86375685 + Splice_Site SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:86375685C>T ENST00000370571.2 - 26 2984 c.2616_splice c.e26-1 p.G873_splice COL24A1_ENST00000436319.1_Splice_Site_p.G873_splice NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 873 Collagen-like 6. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TCCACGTTCTCCCTTTTAAGA 0.383000 83 121 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79026044 79026044 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:79026044G>A ENST00000446378.2 + 2 1487 c.1456G>A c.(1456-1458)Gaa>Aaa p.E486K NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 486 Glu-rich. perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AGAGAAGGAGGAAAACATGCT 0.468000 70 63 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 93027027 93027027 + Missense_Mutation SNP G G C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:93027027G>C ENST00000523629.1 - 4 702 c.248C>G c.(247-249)tCt>tGt p.S83C RUNX1T1_ENST00000436581.2_Missense_Mutation_p.S94C|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.S46C|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.S56C|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.S46C|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.S83C|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.S46C|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.S46C|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.S56C NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 83 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) GGCTGTAGGAGAATGGCTCGT 0.498000 23 43 0 0 1 0 0 EEF1G 1937 broad.mit.edu 37 11 62327779 62327779 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:62327779G>A ENST00000378019.3 - 8 1245 c.1155C>T c.(1153-1155)acC>acT p.T385T EEF1G_ENST00000329251.4_Silent_p.T335T|MIR3654_ENST00000496634.2_3'UTR P26641 EF1G_HUMAN eukaryotic translation elongation factor 1 gamma 335 EF-1-gamma C-terminal. response to virus cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 AGCTCATGAAGGTCTGAGTGA 0.498000 17 18 0 0 1 0 0 ZBTB44 29068 broad.mit.edu 37 11 130109726 130109726 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:130109726G>A ENST00000525842.1 - 3 1451 c.1084C>T c.(1084-1086)Cct>Tct p.P362S ZBTB44_ENST00000530205.1_Missense_Mutation_p.P362S|ZBTB44_ENST00000357899.4_Missense_Mutation_p.P362S|ZBTB44_ENST00000397753.1_Missense_Mutation_p.P362S NM_014155.4 NP_054874.3 Q8NCP5 ZBT44_HUMAN zinc finger and BTB domain containing 44 362 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 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;0.0192)|Lung(977;0.235) TCATCCGGAGGAGCATTAGTG 0.433000 11 16 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175087713 175087713 + Missense_Mutation SNP A A T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:175087713A>T ENST00000239462.4 + 11 2516 c.2403A>T c.(2401-2403)caA>caT p.Q801H NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 801 Fibronectin type-III 7. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) ACAGCCCCCAAAACCTGGTCA 0.512000 39 75 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108751586 108751586 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:108751586G>A ENST00000232603.5 - 16 1628 c.1546C>T c.(1546-1548)Ccc>Tcc p.P516S MORC1_ENST00000483760.1_Missense_Mutation_p.P516S NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 516 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 AAGCGGTTGGGATTATTAGCA 0.289000 29 37 0 0 1 0 0 PSG5 5673 broad.mit.edu 37 19 43683099 43683099 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:43683099G>A ENST00000599812.1 - 3 736 c.641C>T c.(640-642)cCc>cTc p.P214L PSG5_ENST00000404580.1_Intron|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000342951.6_Intron|PSG5_ENST00000366175.3_Intron|PSG5_ENST00000407356.1_Intron Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 119 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) ACATTCATAGGGTCCTGCAAT 0.502000 130 246 0 0 1 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140752181 140752181 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:140752181C>T ENST00000576222.1 + 1 2351 c.2220C>T c.(2218-2220)ctC>ctT p.L740L PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGAGTTCTCCCCACCTACA 0.502000 23 41 0 0 1 0 0 OTOP3 347741 broad.mit.edu 37 17 72937729 72937729 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:72937729C>T ENST00000328801.4 + 2 315 c.315C>T c.(313-315)ttC>ttT p.F105F NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 105 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) GTGGCGCCTTCATCTGCAGCA 0.602000 51 62 0 0 1 0 0 PLOD2 5352 broad.mit.edu 37 3 145796919 145796919 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:145796919C>T ENST00000282903.5 - 13 1661 c.1484G>A c.(1483-1485)cGa>cAa p.R495Q RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Missense_Mutation_p.R440Q|PLOD2_ENST00000461497.1_Missense_Mutation_p.R155Q|PLOD2_ENST00000360060.3_Missense_Mutation_p.R495Q NM_182943.2 NP_891988.1 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 495 protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding p.R495Q(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) TCTAGCATTTCGGCAAAGAGC 0.393000 70 85 0 0 1 0 0 NCAPD2 9918 broad.mit.edu 37 12 6631172 6631172 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:6631172C>T ENST00000315579.5 + 15 2722 c.1923C>T c.(1921-1923)atC>atT p.I641I NCAPD2_ENST00000545962.1_Silent_p.I596I NM_014865.3 NP_055680.3 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 641 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 TTGGCATCATCAGCAAGATGA 0.423000 28 66 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144946821 144946821 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:144946821G>A ENST00000525985.1 - 2 672 c.601C>T c.(601-603)Ctc>Ttc p.L201F P58107 EPIPL_HUMAN epiplakin 1 201 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TTGGGGTCGAGGAAGCGCAGG 0.662000 17 24 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155449108 155449108 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:155449108G>A ENST00000368346.3 - 3 4192 c.3553C>T c.(3553-3555)Cct>Tct p.P1185S ASH1L_ENST00000392403.3_Missense_Mutation_p.P1185S Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1185 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) ATTGGGGAAGGAGTAGCTTCT 0.453000 46 48 0 0 1 0 0 CDK10 8558 broad.mit.edu 37 16 89758292 89758292 + Silent SNP T T A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:89758292T>A ENST00000331006.8 + 4 2014 c.273T>A c.(271-273)gcT>gcA p.A91A CDK10_ENST00000505473.1_Silent_p.A67A|CDK10_ENST00000353379.7_Silent_p.A138A Q15131 CDK10_HUMAN cyclin-dependent kinase 10 138 Protein kinase. negative regulation of cell proliferation|traversing start control point of mitotic cell cycle ATP binding|cyclin-dependent protein kinase activity|protein binding ovary(1) 1 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0276) TCTCGGAGGCTCAGGTGCGTG 0.562000 26 30 0 0 1 0 0 CDRT15 146822 broad.mit.edu 37 17 14140027 14140027 + Missense_Mutation SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:14140027T>C ENST00000420162.2 - 1 139 c.124A>G c.(124-126)Ata>Gta p.I42V CDRT15_ENST00000431716.2_Missense_Mutation_p.N17S NM_001007530.1 NP_001007531.1 Q96T59 CDRTF_HUMAN CMT1A duplicated region transcript 15 42 endometrium(2)|large_intestine(1)|lung(2)|prostate(1) 6 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) ATGCGCCTTATTACAACGGGC 0.602000 18 28 0 0 1 0 0 RUSC2 9853 broad.mit.edu 37 9 35547173 35547173 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr9:35547173G>A ENST00000455600.1 + 2 1224 c.655G>A c.(655-657)Gat>Aat p.D219N RUSC2_ENST00000468041.1_3'UTR NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 219 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) TGGAGCCAGCGATACCTCTGG 0.617000 49 8 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54537603 54537603 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:54537603C>T ENST00000474759.1 + 5 514 c.466C>T c.(466-468)Cca>Tca p.P156S CACNA2D3_ENST00000415676.2_Missense_Mutation_p.P156S|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.P62S|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.P156S NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 156 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) CATCTTAGCCCCAAATGACCA 0.408000 37 62 0 0 1 0 0 MSL3P1 151507 broad.mit.edu 37 2 234775044 234775044 + RNA SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:234775044G>A ENST00000438684.1 - 0 1070 NR_024322.1 TGTCAGGTACGAGCTTCCAGG 0.488000 63 108 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158323824 158323824 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:158323824G>A ENST00000444681.2 + 1 339 c.46G>A c.(46-48)Gaa>Aaa p.E16K CD1E_ENST00000368160.3_Missense_Mutation_p.E16K|CD1E_ENST00000434258.1_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.E16K|CD1E_ENST00000368157.1_Missense_Mutation_p.E16K|CD1E_ENST00000368166.3_Missense_Mutation_p.E16K|CD1E_ENST00000368164.3_Missense_Mutation_p.E16K|CD1E_ENST00000368165.3_Missense_Mutation_p.E16K|CD1E_ENST00000368156.1_Missense_Mutation_p.E16K|CD1E_ENST00000368155.3_Missense_Mutation_p.E16K|CD1E_ENST00000368163.3_Missense_Mutation_p.E16K|CD1E_ENST00000368161.3_Missense_Mutation_p.E16K|CD1E_ENST00000452291.2_Missense_Mutation_p.E16K|CD1E_ENST00000368154.1_Missense_Mutation_p.E16K NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 16 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) CTGTCCTGGGGAAAATACAGC 0.542000 23 37 0 0 1 0 0 NRG3 10718 broad.mit.edu 37 10 83635777 83635777 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:83635777G>A ENST00000404547.1 + 1 681 c.681G>A c.(679-681)gcG>gcA p.A227A NRG3_ENST00000372141.2_Silent_p.A227A P56975 NRG3_HUMAN neuregulin 3 227 Ser/Thr-rich. regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) GGCCTACTGCGGCATACGCTA 0.617000 16 19 0 0 1 0 0 GALNTL6 442117 broad.mit.edu 37 4 173730523 173730523 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:173730523G>A ENST00000506823.1 + 6 1222 c.565G>A c.(565-567)Gat>Aat p.D189N GALNTL6_ENST00000508122.1_Missense_Mutation_p.D172N NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 189 Catalytic subdomain A. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 ACACCTGAAGGATAAATTGGA 0.428000 44 61 0 0 1 0 0 HSD3B2 3284 broad.mit.edu 37 1 119965159 119965159 + Nonsense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:119965159G>A ENST00000543831.1 + 4 1284 c.1035G>A c.(1033-1035)tgG>tgA p.W345* HSD3B2_ENST00000369416.3_Nonsense_Mutation_p.W345* NM_001166120.1 NP_001159592.1 P26439 3BHS2_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 345 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1) 27 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) TCTACAGCTGGGAGGAAGCCA 0.512000 30 47 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169529894 169529894 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:169529894G>A ENST00000367796.3 - 4 685 c.484C>T c.(484-486)Cat>Tat p.H162Y F5_ENST00000367797.3_Missense_Mutation_p.H162Y|F5_ENST00000546081.1_Missense_Mutation_p.H25Y P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 162 F5/8 type A 1.|Plastocyanin-like 1. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GGGTCATCATGGGTGGGTCCA 0.512000 79 98 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110527488 110527488 + Nonsense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:110527488G>A ENST00000378402.5 + 72 11747 c.11643G>A c.(11641-11643)tgG>tgA p.W3881* NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3881 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CTACAATATGGAATGCCCAGC 0.328000 HNSCC(38;0.096) 17 26 0 0 1 0 0 CCT5 22948 broad.mit.edu 37 5 10250465 10250465 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:10250465G>A ENST00000280326.4 + 1 433 c.13G>A c.(13-15)Ggg>Agg p.G5R CCT5_ENST00000503026.1_Intron|CCT5_ENST00000515390.1_Missense_Mutation_p.G5R NM_012073.3 NP_036205.1 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 5 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2) 26 GGCGTCCATGGGGACCCTCGC 0.577000 28 7 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106401576 106401576 + Missense_Mutation SNP C C G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:106401576C>G ENST00000369701.3 + 1 718 c.491C>G c.(490-492)tCc>tGc p.S164C NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 164 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GCTAAGGGTTCCCGGGAGGAG 0.721000 5 0 0 0 1 0 0 ETV7 51513 broad.mit.edu 37 6 36334487 36334487 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:36334487G>A ENST00000373738.1 - 7 1641 c.796C>T c.(796-798)Ccg>Tcg p.P266S ETV7_ENST00000373737.4_Missense_Mutation_p.P244S|ETV7_ENST00000340181.4_Missense_Mutation_p.P321S|ETV7_ENST00000339796.5_Intron|ETV7_ENST00000538992.1_Missense_Mutation_p.P170S NM_001207036.1 NP_001193965.1 Q9Y603 ETV7_HUMAN ets variant 7 321 organ morphogenesis|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4) 10 CTCTCCAGCGGCTCCAGGTGG 0.577000 35 109 0 0 1 0 0 OR51S1 119692 broad.mit.edu 37 11 4869575 4869575 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:4869575G>A ENST00000322101.2 - 1 939 c.864C>T c.(862-864)ttC>ttT p.F288F MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GAGGAAGAAGGAAATGGACAT 0.448000 49 82 0 0 1 0 0 CPED1 79974 broad.mit.edu 37 7 120655783 120655783 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:120655783C>T ENST00000310396.5 + 3 781 c.314C>T c.(313-315)cCt>cTt p.P105L CPED1_ENST00000450913.2_Missense_Mutation_p.P105L|CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000340646.5_Missense_Mutation_p.P105L NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 TACAGGCCTCCTTTCTACAGC 0.448000 24 37 0 0 1 0 0 PROX2 283571 broad.mit.edu 37 14 75329906 75329906 + Missense_Mutation SNP T T A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:75329906T>A ENST00000556084.2 - 1 631 c.632A>T c.(631-633)aAg>aTg p.K211M PROX2_ENST00000445876.1_Missense_Mutation_p.K211M|PROX2_ENST00000556489.2_Missense_Mutation_p.K211M NM_001080408.2 NP_001073877.2 Q3B8N5 PROX2_HUMAN prospero homeobox 2 211 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(2)|lung(3) 6 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) GAAACTGGGCTTCTCAGACTC 0.562000 34 2 0 0 1 0 0 PCDHB2 56133 broad.mit.edu 37 5 140476315 140476315 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:140476315G>A ENST00000194155.4 + 1 2089 c.1941G>A c.(1939-1941)aaG>aaA p.K647K NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 647 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCTGGTCAAGGACAATGGCG 0.716000 40 48 0 0 1 0 0 OR7D2 162998 broad.mit.edu 37 19 9296468 9296468 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:9296468G>A ENST00000344248.2 + 1 190 c.11G>A c.(10-12)gGa>gAa p.G4E NM_175883.2 NP_787079.1 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, member 2 4 regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 20 ATGGAAGCAGGAAACCAAACA 0.483000 18 22 0 0 1 0 0 RBMXL3 139804 broad.mit.edu 37 X 114424132 114424132 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:114424132G>A ENST00000424776.3 + 1 170 c.128G>A c.(127-129)cGa>cAa p.R43Q LRCH2_ENST00000317135.8_Intron|LRCH2_ENST00000538422.1_Intron NM_001145346.1 NP_001138818.1 Q8N7X1 RMXL3_HUMAN RNA binding motif protein, X-linked-like 3 43 RRM. nucleotide binding|RNA binding endometrium(13)|kidney(2)|skin(1) 16 ATGAAAGACCGAAAAACCAAC 0.532000 6 0 0 0 1 0 0 KATNAL1 84056 broad.mit.edu 37 13 30782818 30782818 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr13:30782818G>A ENST00000380615.3 - 11 1499 c.1332C>T c.(1330-1332)atC>atT p.I444I KATNAL1_ENST00000380617.3_Silent_p.I444I NM_032116.4 NP_115492.1 Q9BW62 KATL1_HUMAN katanin p60 subunit A-like 1 444 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3) 19 Lung SC(185;0.0257) all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213) AAAGTGCACGGATTTCTTCTG 0.408000 37 82 0 0 1 0 0 SEMA3D 223117 broad.mit.edu 37 7 84710896 84710896 + Splice_Site SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:84710896C>T ENST00000284136.6 - 3 356 c.e3-1 SEMA3D_ENST00000444867.1_Splice_Site NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 GCCAATAAATCTGCAAAACAT 0.358000 24 31 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38899722 38899722 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:38899722G>A ENST00000359357.3 + 74 11013 c.10759G>A c.(10759-10761)Gga>Aga p.G3587R RP1-207H1.3_ENST00000453417.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.G3804R|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.G3551R 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 TACAATGAAAGGACTTGAGAA 0.338000 43 75 0 0 1 0 0 LOC442028 442028 broad.mit.edu 37 2 95552768 95552768 + RNA SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:95552768C>T ENST00000568768.1 - 0 476 CTCAATTCCTCCTTTGTCATA 0.388000 20 20 0 0 1 0 0 CDK1 983 broad.mit.edu 37 10 62553692 62553692 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:62553692C>T ENST00000448257.2 + 8 1054 c.853C>T c.(853-855)Cca>Tca p.P285S CDK1_ENST00000316629.4_Missense_Mutation_p.P228S|CDK1_ENST00000373809.2_Missense_Mutation_p.P228S|CDK1_ENST00000395284.3_Missense_Mutation_p.P285S P06493 CDK1_HUMAN cyclin-dependent kinase 1 285 Protein kinase. activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|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|midbody|nucleoplasm|spindle microtubule ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity ovary(1) 1 ACTGAATCATCCATATTTTAA 0.289000 26 10 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138442251 138442251 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:138442251C>T ENST00000344876.4 - 4 3726 c.3340G>A c.(3340-3342)Gaa>Aaa p.E1114K PCDH18_ENST00000511115.1_Missense_Mutation_p.E294K|PCDH18_ENST00000412923.2_Missense_Mutation_p.E1113K|PCDH18_ENST00000510305.1_Missense_Mutation_p.E325K|PCDH18_ENST00000507846.1_Missense_Mutation_p.E893K NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 1114 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TCCATGAGTTCGTGTTTCCCA 0.448000 26 31 0 0 1 0 0 EMR2 30817 broad.mit.edu 37 19 14857767 14857767 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:14857767G>A ENST00000315576.3 - 17 2483 c.2032C>T c.(2032-2034)Ctc>Ttc p.L678F EMR2_ENST00000346057.1_Missense_Mutation_p.L629F|EMR2_ENST00000392967.2_Missense_Mutation_p.L667F|EMR2_ENST00000594294.1_Missense_Mutation_p.L629F|EMR2_ENST00000353005.1_Missense_Mutation_p.L536F|EMR2_ENST00000392964.3_3'UTR|EMR2_ENST00000596991.2_Missense_Mutation_p.L667F|EMR2_ENST00000392965.3_Missense_Mutation_p.L620F|EMR2_ENST00000595839.1_Missense_Mutation_p.L536F|EMR2_ENST00000594076.1_Missense_Mutation_p.L585F|EMR2_ENST00000353876.1_Missense_Mutation_p.L585F|EMR2_ENST00000601345.1_Missense_Mutation_p.L667F NM_013447.2 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 678 cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 TCTGGTTGGAGCCAGCAGCTG 0.463000 20 17 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111114468 111114468 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr13:111114468C>T ENST00000360467.5 + 23 1910 c.1604C>T c.(1603-1605)cCt>cTt p.P535L COL4A2-AS2_ENST00000458403.2_RNA NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 535 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) CAGGGAGTGCCTGGCAACATT 0.512000 25 17 0 0 1 0 0 ABCD2 225 broad.mit.edu 37 12 40010843 40010843 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:40010843C>T ENST00000308666.3 - 2 1202 c.1067G>A c.(1066-1068)gGa>gAa p.G356E NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 356 ABC transmembrane type-1. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 CATAATTAGTCCACTGCTGCT 0.353000 56 50 0 0 1 0 0 TTC6 319089 broad.mit.edu 37 14 38296443 38296443 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:38296443C>T ENST00000553443.1 + 29 5170 c.5170C>T c.(5170-5172)Cat>Tat p.H1724Y TTC6_ENST00000382320.3_Missense_Mutation_p.H438Y|TTC6_ENST00000476979.1_Missense_Mutation_p.H358Y|TTC6_ENST00000267368.7_Missense_Mutation_p.H358Y tetratricopeptide repeat domain 6 central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 14 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176) GBM - Glioblastoma multiforme(112;0.00551) TGGGGTGATTCATGAGTTTAT 0.363000 33 51 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13906778 13906778 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:13906778C>T ENST00000279593.3 - 3 692 c.483G>A c.(481-483)atG>atA p.M161I NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 161 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CATATTCTTCCATGATGTTGA 0.418000 14 23 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 117486768 117486768 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:117486768G>A ENST00000355044.3 + 27 3932 c.3806G>A c.(3805-3807)cGa>cAa p.R1269Q ATRNL1_ENST00000423111.2_Missense_Mutation_p.R320Q|ATRNL1_ENST00000303745.7_Missense_Mutation_p.R62Q NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 1269 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) CAACTGCTTCGAGAACGACAG 0.433000 24 6 0 0 1 0 0 COG4 25839 broad.mit.edu 37 16 70546202 70546202 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:70546202G>A ENST00000564653.1 - 5 557 c.551C>T c.(550-552)tCc>tTc p.S184F COG4_ENST00000323786.5_Silent_p.F226F|COG4_ENST00000393612.4_Silent_p.F222F Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 0 Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2) 33 Ovarian(137;0.0694) CCAGCAGTGGGAAGATCTTGA 0.512000 32 48 0 0 1 0 0 PDE6A 5145 broad.mit.edu 37 5 149263002 149263002 + Missense_Mutation SNP C C T rs148637474 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:149263002C>T ENST00000255266.5 - 17 2244 c.2125G>A c.(2125-2127)Gaa>Aaa p.E709K NM_000440.2 NP_000431.2 P16499 PDE6A_HUMAN phosphodiesterase 6A, cGMP-specific, rod, alpha 709 cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) ATAACGATTTCCTTCCGTGTC 0.483000 17 23 0 0 1 0 0 SAMSN1 64092 broad.mit.edu 37 21 15884877 15884877 + Missense_Mutation SNP C C G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr21:15884877C>G ENST00000285670.2 - 5 675 c.501G>C c.(499-501)gaG>gaC p.E167D SAMSN1_ENST00000400566.1_Missense_Mutation_p.E99D|SAMSN1_ENST00000400564.1_Intron NM_001256370.1 NP_001243299.1 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 99 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) GGTGGGCATTCTCTCCATCTT 0.443000 4 101 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179574483 179574483 + Silent SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:179574483T>C ENST00000589042.1 - 99 28787 c.28563A>G c.(28561-28563)caA>caG p.Q9521Q TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.Q9204Q|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.Q8277Q|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9204 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGTTATAGGTTGGGAACCAG 0.413000 100 80 0 0 1 0 0 CSNK1A1P1 161635 broad.mit.edu 37 15 37110336 37110336 + RNA SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr15:37110336G>A ENST00000430593.3 - 0 324 NR_027320.1 CCTGAGAGACGAAGATGGAGG 0.572000 9 0 0 0 1 0 0 NMBR 4829 broad.mit.edu 37 6 142396799 142396799 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:142396799C>T ENST00000258042.1 - 3 1299 c.1159G>A c.(1159-1161)Gaa>Aaa p.E387K NMBR_ENST00000480652.1_Intron NM_002511.2 NP_002502.2 P28336 NMBR_HUMAN neuromedin B receptor 387 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) AGTGCCATTTCCTGCTTCATG 0.433000 38 49 0 0 1 0 0 KRTAP3-3 85293 broad.mit.edu 37 17 39150226 39150226 + Silent SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:39150226A>G ENST00000391586.1 - 1 159 c.124T>C c.(124-126)Tta>Cta p.L42L NM_033185.2 NP_149441.1 Q9BYR6 KRA33_HUMAN keratin associated protein 3-3 42 3 X 5 AA repeats of C-C-X(3). keratin filament structural molecule activity lung(2)|prostate(2) 4 Breast(137;0.00043) GGCTCCAGTAACCAAACTGTG 0.632000 11 94 0 0 1 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45567078 45567078 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr18:45567078C>T ENST00000588982.1 - 3 902 c.401G>A c.(400-402)gGg>gAg p.G134E ZBTB7C_ENST00000332053.2_Missense_Mutation_p.G134E|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.G134E|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.G134E|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.G134E A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 134 Asp-rich.|Glu-rich. intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 atcctcctcccccccgtcccc 0.577000 21 23 0 0 1 0 0 RPSAP52 204010 broad.mit.edu 37 12 66152609 66152609 + RNA SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:66152609G>A ENST00000489520.2 - 0 334 NR_026825.2 GCCAGCAGAAGCTTCTCCCAG 0.443000 24 19 0 0 1 0 0 AGL 178 broad.mit.edu 37 1 100346234 100346234 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:100346234C>T ENST00000294724.4 + 14 2260 c.1782C>T c.(1780-1782)taC>taT p.Y594Y AGL_ENST00000361915.3_Silent_p.Y594Y|AGL_ENST00000361522.4_Silent_p.Y577Y|AGL_ENST00000370165.3_Silent_p.Y594Y|AGL_ENST00000370161.2_Silent_p.Y578Y|AGL_ENST00000361302.3_Silent_p.Y578Y|AGL_ENST00000370163.3_Silent_p.Y594Y NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 594 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) GATTAGTTTACCGATATGGAG 0.398000 64 96 0 0 1 0 0 CTSW 1521 broad.mit.edu 37 11 65650792 65650792 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:65650792G>A ENST00000528419.1 + 9 921 c.917G>A c.(916-918)gGg>gAg p.G306E CTSW_ENST00000307886.3_Missense_Mutation_p.G306E P56202 CATW_HUMAN cathepsin W 306 immune response|proteolysis cysteine-type endopeptidase activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5) 9 READ - Rectum adenocarcinoma(159;0.168) TCAGAGGAGGGGATATGGGCA 0.602000 70 117 0 0 1 0 0 CHRNA9 55584 broad.mit.edu 37 4 40339308 40339308 + Nonsense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:40339308C>T ENST00000310169.2 + 3 431 c.292C>T c.(292-294)Cag>Tag p.Q98* CHRNA9_ENST00000502377.1_3'UTR NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 98 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) GGACCGAGATCAGTACGATGG 0.478000 21 30 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107041554 107041554 + Nonsense_Mutation SNP T T A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:107041554T>A ENST00000409886.3 - 20 2956 c.2869A>T c.(2869-2871)Aag>Tag p.K957* RGPD3_ENST00000304514.7_Nonsense_Mutation_p.K957* NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 957 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 CCACGGCCCTTCTTCCGGCCA 0.398000 126 460 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76501376 76501376 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:76501376G>A ENST00000307431.8 + 11 1993 c.1608G>A c.(1606-1608)ggG>ggA p.G536G CNTNAP4_ENST00000377504.4_Silent_p.G488G|CNTNAP4_ENST00000478060.1_Silent_p.G464G|CNTNAP4_ENST00000476707.1_Silent_p.G540G|CNTNAP4_ENST00000469589.1_3'UTR NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 537 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GGTCCCTTGGGAACTTCAGTG 0.438000 20 24 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138452009 138452009 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:138452009C>T ENST00000344876.4 - 1 1620 c.1234G>A c.(1234-1236)Gaa>Aaa p.E412K PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.E412K|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.E192K NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 412 Cadherin 4. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TAATTGTTTTCATATGTCTTC 0.398000 48 63 0 0 1 0 0 NPY4R 5540 broad.mit.edu 37 10 47087350 47087350 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:47087350C>T ENST00000374312.1 + 3 986 c.567C>T c.(565-567)tcC>tcT p.S189S NPY4R_ENST00000395716.1_Silent_p.S189S NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 AGAACCACTCCAAGGCTCTGG 0.577000 45 55 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30936469 30936469 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:30936469G>A ENST00000355537.3 + 2 2147 c.2000G>A c.(1999-2001)gGc>gAc p.G667D NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 667 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CTGCACGTGGGCCTGGATGAG 0.697000 42 41 0 0 1 0 0 SLC5A8 160728 broad.mit.edu 37 12 101581199 101581199 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:101581199G>A ENST00000536262.2 - 7 1486 c.928C>T c.(928-930)Cct>Tct p.P310S NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 310 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GCTGTCCAAGGATCACAGTCA 0.438000 32 21 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578395 7578395 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:7578395G>A ENST00000420246.2 - 5 667 c.535C>T c.(535-537)Cat>Tat p.H179Y TP53_ENST00000359597.4_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.H179Y|TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 179 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAGCGCTCATGGTGGGGGCAG 0.642000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 40 6 0 0 1 0 0 USP53 54532 broad.mit.edu 37 4 120193177 120193177 + Missense_Mutation SNP C C A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:120193177C>A ENST00000450251.1 + 12 2706 c.2162C>A c.(2161-2163)aCa>aAa p.T721K USP53_ENST00000274030.6_Missense_Mutation_p.T721K Q70EK8 UBP53_HUMAN ubiquitin specific peptidase 53 721 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 27 GTTAAAGAAACAGTATGCTTC 0.333000 33 83 1.57945e-13 1.59072e-13 1 1 0 OR4K17 390436 broad.mit.edu 37 14 20586540 20586540 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:20586540G>A ENST00000315543.4 + 1 975 c.975G>A c.(973-975)atG>atA p.M325I NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) ACAAAGAAATGAAGATATCCA 0.383000 15 30 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25701294 25701294 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:25701294C>T ENST00000376351.3 + 4 1586 c.1227C>T c.(1225-1227)ttC>ttT p.F409F NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 409 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GCCCATGCTTCGTCCAGGAAG 0.498000 7 136 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189852853 189852853 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:189852853G>A ENST00000304636.3 + 6 745 c.575G>A c.(574-576)gGt>gAt p.G192D COL3A1_ENST00000317840.5_Missense_Mutation_p.G192D NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 192 Triple-helical region. G -> V (in EDS4). axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GGTCATCCTGGTTCCCCTGTA 0.398000 32 93 0 0 1 0 0 PHLPP2 23035 broad.mit.edu 37 16 71697894 71697894 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:71697894G>A ENST00000568954.1 - 13 2271 c.1893C>T c.(1891-1893)ctC>ctT p.L631L PHLPP2_ENST00000393524.2_Intron|PHLPP2_ENST00000360429.3_Silent_p.L631L|PHLPP2_ENST00000567016.1_Silent_p.L666L|PHLPP2_ENST00000356272.3_Silent_p.L631L|RP11-432I5.6_ENST00000567077.1_RNA Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 631 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 GATCCGTCAGGAGATTGTTGG 0.483000 22 43 0 0 1 0 0 LARS 51520 broad.mit.edu 37 5 145493731 145493731 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:145493731G>A ENST00000394434.2 - 32 3635 c.3469C>T c.(3469-3471)Cat>Tat p.H1157Y LARS_ENST00000510191.1_Missense_Mutation_p.H1103Y|RP11-118M9.3_ENST00000514002.1_RNA|LARS_ENST00000545646.1_Missense_Mutation_p.H1111Y|LARS_ENST00000274562.9_Missense_Mutation_p.H1130Y NM_020117.9 NP_064502.9 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 1157 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) TCAGTCAGATGAATTTTCTTG 0.448000 36 93 0 0 1 0 0 MT-CO1 4512 broad.mit.edu 37 MT 6216 6216 + Missense_Mutation SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrM:6216T>C ENST00000361624.2 + 1 313 c.313T>C c.(313-315)Tta>Cta p.105_105insL mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 GCTTCTGACTCTTACCTCCCT 0.522000 65 88 0 0 1 0 0 IFT122 55764 broad.mit.edu 37 3 129238562 129238562 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:129238562C>T ENST00000296266.3 + 30 3968 c.3776C>T c.(3775-3777)cCc>cTc p.P1259L IFT122_ENST00000440957.2_Missense_Mutation_p.P999L|IFT122_ENST00000431818.2_Missense_Mutation_p.P1058L|IFT122_ENST00000504021.1_Missense_Mutation_p.P1085L|IFT122_ENST00000349441.2_Missense_Mutation_p.P1098L|IFT122_ENST00000348417.2_Missense_Mutation_p.P1208L|IFT122_ENST00000347300.2_Missense_Mutation_p.P1149L|IFT122_ENST00000507564.1_Missense_Mutation_p.P1201L NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 1208 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 ACCATGTGCCCCTCCTGCTTC 0.617000 73 72 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179453650 179453650 + Nonsense_Mutation SNP A A T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:179453650A>T ENST00000589042.1 - 304 63026 c.62802T>A c.(62800-62802)taT>taA p.Y20934* TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.Y19293*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y11994*|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y18366*|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y11869*|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y12061* NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19293 Ig-like 112. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCTGAAAATATATTCATTTC 0.413000 38 21 0 0 1 0 0 HGD 3081 broad.mit.edu 37 3 120365120 120365120 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:120365120G>A ENST00000283871.5 - 9 1102 c.643C>T c.(643-645)Cca>Tca p.P215S NM_000187.3 NP_000178.2 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 215 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) TTACCAATTGGTCCAAGGTCA 0.453000 33 37 0 0 1 0 0 KIAA1683 80726 broad.mit.edu 37 19 18368599 18368599 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:18368599G>A ENST00000392413.3 - 4 3710 c.3495C>T c.(3493-3495)acC>acT p.T1165T KIAA1683_ENST00000600328.2_Silent_p.T978T|KIAA1683_ENST00000600359.2_Silent_p.T932T NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 132 IQ 6. mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CAGACTGGATGGTCGTGGTGG 0.706000 33 46 0 0 1 0 0 IGHV3-16 28447 broad.mit.edu 37 14 106622086 106622086 + RNA SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:106622086C>T ENST00000390604.2 - 0 232 GGGCCCAGTTCATGTCACTGT 0.592000 76 172 0 0 1 0 0 SUPT16H 11198 broad.mit.edu 37 14 21826572 21826572 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:21826572C>T ENST00000216297.2 - 20 2654 c.2316G>A c.(2314-2316)atG>atA p.M772I NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 772 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) GTTTGTGCCTCATTTCTCGTT 0.378000 31 22 0 0 1 0 0 NCF1B 654816 broad.mit.edu 37 7 72640017 72640017 + RNA SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:72640017C>T ENST00000423083.1 + 0 158 NR_003186.1 ACCAAGATCTCCCGCTGTCCC 0.617000 21 29 0 0 1 0 0 FYB 2533 broad.mit.edu 37 5 39202426 39202426 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:39202426C>T ENST00000351578.6 - 2 827 c.637G>A c.(637-639)Gaa>Aaa p.E213K FYB_ENST00000515010.1_Missense_Mutation_p.E213K|FYB_ENST00000540520.1_Missense_Mutation_p.E223K|FYB_ENST00000512982.1_Missense_Mutation_p.E213K|FYB_ENST00000505428.1_Missense_Mutation_p.E213K NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 213 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding p.E213K(2)|p.E223K(1) endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) ATGGGGCTTTCGTCTTCATGG 0.527000 26 67 0 0 1 0 0 RIPK3 11035 broad.mit.edu 37 14 24808479 24808479 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:24808479G>A ENST00000216274.5 - 3 431 c.213C>T c.(211-213)ttC>ttT p.F71F RIPK3_ENST00000554338.1_5'UTR NM_006871.3 NP_006862.2 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 71 Protein kinase. apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GBM - Glioblastoma multiforme(265;0.0181) GGCGCAGCACGAATTCGTTAT 0.567000 24 64 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7064152 7064152 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:7064152C>T ENST00000299481.4 + 4 1241 c.895C>T c.(895-897)Cct>Tct p.P299S NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 299 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) AGTGATGCTCCCTGAGGCATC 0.448000 45 55 0 0 1 0 0 LMOD3 56203 broad.mit.edu 37 3 69171426 69171426 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:69171426C>T ENST00000420581.2 - 1 291 c.112G>A c.(112-114)Gaa>Aaa p.E38K LMOD3_ENST00000475434.1_Missense_Mutation_p.E38K|LMOD3_ENST00000489031.1_Missense_Mutation_p.E38K NM_198271.3 NP_938012.2 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 38 cytoplasm|cytoskeleton tropomyosin binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1) 13 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) ACTTCCATTTCCGACTGCAGT 0.443000 7 16 0 0 1 0 0 NKD2 85409 broad.mit.edu 37 5 1033528 1033528 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:1033528G>A ENST00000296849.5 + 5 473 c.244G>A c.(244-246)Gga>Aga p.G82R NKD2_ENST00000274150.4_Missense_Mutation_p.G82R|NKD2_ENST00000537972.1_Missense_Mutation_p.G82R NM_033120.2 NP_149111.1 Q969F2 NKD2_HUMAN naked cuticle homolog 2 (Drosophila) 82 Targeting to the basolateral cell membrane. exocytosis|Wnt receptor signaling pathway cytoplasmic membrane-bounded vesicle|plasma membrane calcium ion binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1) 14 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09) Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165) CGAGCACCCGGGACAACTCCT 0.682000 8 0 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32634732 32634732 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr9:32634732C>T ENST00000242310.4 - 1 935 c.846G>A c.(844-846)agG>agA p.R282R RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 282 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GATGCTTCTTCCTCTTTCTCC 0.463000 58 10 0 0 1 0 0 CPA6 57094 broad.mit.edu 37 8 68658323 68658323 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:68658323G>A ENST00000297770.4 - 1 257 c.42C>T c.(40-42)ttC>ttT p.F14F CPA6_ENST00000297769.4_5'UTR|CPA6_ENST00000518549.1_Silent_p.F14F NM_020361.4 NP_065094.3 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 14 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) AAAGAGGCAGGAAAGCAGCTG 0.532000 42 56 0 0 1 0 0 PTPRR 5801 broad.mit.edu 37 12 71139735 71139735 + Silent SNP G G C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:71139735G>C ENST00000283228.2 - 6 1322 c.870C>G c.(868-870)gtC>gtG p.V290V PTPRR_ENST00000378778.1_Silent_p.V84V|PTPRR_ENST00000342084.4_Silent_p.V178V|PTPRR_ENST00000440835.2_Silent_p.V45V|PTPRR_ENST00000549308.1_Silent_p.V45V NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 290 in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) GCTCAGGTTGGACCATGCTGT 0.522000 7 42 0 0 1 0 0 BZW2 28969 broad.mit.edu 37 7 16744257 16744257 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:16744257G>A ENST00000433922.2 + 11 1372 c.1194G>A c.(1192-1194)atG>atA p.M398I AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000405202.1_Missense_Mutation_p.M322I|BZW2_ENST00000407633.1_Missense_Mutation_p.M204I|BZW2_ENST00000258761.3_Missense_Mutation_p.M398I NM_001159767.1 NP_001153239.1 Q9Y6E2 BZW2_HUMAN basic leucine zipper and W2 domains 2 398 W2. cell differentiation|nervous system development|RNA metabolic process protein binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 15 Lung NSC(10;0.0367)|all_lung(11;0.0837) UCEC - Uterine corpus endometrioid carcinoma (126;0.199) TTGACCAGATGAAGAAATTTG 0.333000 19 24 0 0 1 0 0 CATSPER2P1 440278 broad.mit.edu 37 15 44028197 44028197 + RNA SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr15:44028197G>A ENST00000381680.2 - 0 1587 NR_002318.2 ggctggtctcgaactcctgac 0.478000 20 4 0 0 1 0 0 CLIP4 79745 broad.mit.edu 37 2 29368177 29368177 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:29368177G>A ENST00000320081.5 + 8 1220 c.965G>A c.(964-966)gGa>gAa p.G322E CLIP4_ENST00000401617.2_Missense_Mutation_p.G215E|CLIP4_ENST00000404424.1_Missense_Mutation_p.G322E|CLIP4_ENST00000401605.1_Missense_Mutation_p.G322E NM_024692.4 NP_078968.3 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, member 4 322 CAP-Gly 1. endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(172;0.155) GAACCAGAAGGAAAAAATAAT 0.348000 29 32 0 0 1 0 0 HTR7 3363 broad.mit.edu 37 10 92509303 92509303 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:92509303C>T ENST00000371721.3 - 2 830 c.588G>A c.(586-588)ggG>ggA p.G196G HTR7_ENST00000277874.6_Silent_p.G196G|HTR7_ENST00000336152.3_Silent_p.G196G|HTR7_ENST00000371719.2_Silent_p.G196G P34969 5HT7R_HUMAN 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled 196 blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) CCATGCATTTCCCATTCTGCC 0.488000 46 15 0 0 1 0 0 MS4A8 83661 broad.mit.edu 37 11 60482508 60482508 + Silent SNP G G A rs142632950 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:60482508G>A ENST00000300226.2 + 6 752 c.549G>A c.(547-549)gcG>gcA p.A183A NM_031457.1 NP_113645.1 membrane-spanning 4-domains, subfamily A, member 8 p.A183A(1) CTGGAATGGCGATTTCTGGCG 0.577000 51 70 0 0 1 0 0 DUSP3 1845 broad.mit.edu 37 17 41847127 41847127 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:41847127G>A ENST00000226004.3 - 3 471 c.408C>T c.(406-408)atC>atT p.I136I DUSP3_ENST00000397937.2_Silent_p.I95I NM_004090.3 NP_004081.1 P51452 DUS3_HUMAN dual specificity phosphatase 3 136 Tyrosine-protein phosphatase. inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|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|immunological synapse|nucleoplasm MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 7 Breast(137;0.00725) BRCA - Breast invasive adenocarcinoma(366;0.116) TGAGGTAGGCGATAACTAGCG 0.612000 32 53 0 0 1 0 0 JUP 3728 broad.mit.edu 37 17 39914700 39914700 + Missense_Mutation SNP A A T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:39914700A>T ENST00000393931.3 - 10 1842 c.1724T>A c.(1723-1725)aTg>aAg p.M575K JUP_ENST00000310706.5_Missense_Mutation_p.M575K|JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.M575K NM_002230.2 NP_002221.1 P14923 PLAK_HUMAN junction plakoglobin 575 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) CATGCGGTTCATGGGGTCCCG 0.622000 43 48 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196963290 196963290 + Silent SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:196963290T>C ENST00000367414.5 + 4 639 c.583T>C c.(583-585)Ttg>Ctg p.L195L CFHR5_ENST00000256785.4_Silent_p.L171L NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 171 Sushi 3. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 TGGAGACGTGTTGAAATTCTC 0.353000 70 77 0 0 1 0 0 ZNF92 168374 broad.mit.edu 37 7 64864515 64864515 + Missense_Mutation SNP T T A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:64864515T>A ENST00000328747.7 + 4 1687 c.1488T>A c.(1486-1488)ttT>ttA p.F496L ZNF92_ENST00000450302.2_Missense_Mutation_p.F427L|ZNF92_ENST00000357512.2_Missense_Mutation_p.F464L|ZNF92_ENST00000431504.1_Missense_Mutation_p.F420L NM_152626.2 NP_689839.1 Q03936 ZNF92_HUMAN zinc finger protein 92 496 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1) 13 Lung NSC(55;0.159) CCTCAATTTTTACTAAACATA 0.338000 27 31 0 0 1 0 0 SLFN12 55106 broad.mit.edu 37 17 33738475 33738475 + Missense_Mutation SNP C C G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:33738475C>G ENST00000394562.1 - 6 2142 c.1619G>C c.(1618-1620)aGa>aCa p.R540T SLFN12_ENST00000452764.3_Missense_Mutation_p.R540T|SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000304905.5_Missense_Mutation_p.R540T Q8IYM2 SLN12_HUMAN schlafen family member 12 540 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGACTTGAGTCTCTTTAAGGC 0.348000 38 52 0 0 1 0 0 TBC1D10C 374403 broad.mit.edu 37 11 67171788 67171788 + Missense_Mutation SNP C C A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:67171788C>A ENST00000312390.5 + 2 144 c.115C>A c.(115-117)Cgc>Agc p.R39S TBC1D10C_ENST00000542590.1_Missense_Mutation_p.R39S|TBC1D10C_ENST00000526387.1_Missense_Mutation_p.R39S NM_198517.3 NP_940919.1 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 39 intracellular Rab GTPase activator activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CCAGGCCGACCGCTATGGATT 0.667000 23 27 1.66031e-10 1.6689e-10 1 1 0 CCDC158 339965 broad.mit.edu 37 4 77317509 77317509 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:77317509G>A ENST00000388914.3 - 3 353 c.201C>T c.(199-201)atC>atT p.I67I CCDC158_ENST00000504868.1_5'UTR|CCDC158_ENST00000434846.2_Silent_p.I67I NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 67 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 GAGATGGGATGATTTTTCTAG 0.373000 39 52 0 0 1 0 0 ASH2L 9070 broad.mit.edu 37 8 37985811 37985811 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:37985811C>T ENST00000343823.6 + 11 1477 c.1168C>T c.(1168-1170)Ccc>Tcc p.P390S ASH2L_ENST00000428278.2_Missense_Mutation_p.P296S|ASH2L_ENST00000250635.7_Missense_Mutation_p.P296S|ASH2L_ENST00000521652.1_Missense_Mutation_p.P296S|ASH2L_ENST00000545394.1_Missense_Mutation_p.P251S NM_004674.4 NP_004665.2 Q9UBL3 ASH2L_HUMAN ash2 (absent, small, or homeotic)-like (Drosophila) 390 B30.2/SPRY. hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter Set1C/COMPASS complex metal ion binding|protein binding|transcription regulatory region DNA binding NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1) 19 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) CACCGCAGCTCCCCAGTTAAA 0.448000 17 2 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 100170018 100170018 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:100170018G>A ENST00000524871.1 + 20 2800 c.2510G>A c.(2509-2511)cGa>cAa p.R837Q CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.R837Q|CNTN5_ENST00000279463.3_Missense_Mutation_p.R837Q|CNTN5_ENST00000418526.2_Missense_Mutation_p.R763Q|CNTN5_ENST00000527185.1_Missense_Mutation_p.R837Q NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 837 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding p.R837Q(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TTCATTTATCGAGATGAAAGT 0.433000 30 45 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97822244 97822244 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:97822244G>A ENST00000297293.5 + 11 2760 c.2467G>A c.(2467-2469)Gaa>Aaa p.E823K NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 823 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CTTCGAAACAGAAGAAACGCC 0.542000 66 98 0 0 1 0 0 CDR1 1038 broad.mit.edu 37 X 139866349 139866349 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:139866349C>T ENST00000370532.2 - 1 374 c.183G>A c.(181-183)acG>acA p.T61T NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 61 23 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) CCAGGAAATCCGTGTCTTCCA 0.443000 76 13 0 0 1 0 0 HERC3 8916 broad.mit.edu 37 4 89597509 89597509 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:89597509C>T ENST00000402738.1 + 18 2199 c.1960C>T c.(1960-1962)Cct>Tct p.P654S HERC3_ENST00000543130.1_Missense_Mutation_p.P98S|HERC3_ENST00000264345.3_Missense_Mutation_p.P654S NM_001271602.1|NM_014606.1 NP_001258531.1|NP_055421.1 Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 654 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) TTGTTCCTACCCTTTCATCTT 0.318000 33 60 0 0 1 0 0 SUPT16H 11198 broad.mit.edu 37 14 21837440 21837440 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:21837440G>A ENST00000216297.2 - 6 1043 c.705C>T c.(703-705)gaC>gaT p.D235D NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 235 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) CAGTAGAAGGGTCTGCCCCAG 0.418000 39 30 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906263 164906263 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:164906263C>T ENST00000475390.1 - 2 2799 c.2356G>A c.(2356-2358)Gga>Aga p.G786R SLITRK3_ENST00000241274.3_Missense_Mutation_p.G786R O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 786 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 TCACCCATTCCCGGTGGTTGT 0.562000 HNSCC(40;0.11) 61 66 0 0 1 0 0 CLVS1 157807 broad.mit.edu 37 8 62289219 62289219 + Missense_Mutation SNP G G A rs143211270 by1000genomes TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:62289219G>A ENST00000519846.1 + 4 983 c.511G>A c.(511-513)Gaa>Aaa p.E171K CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Missense_Mutation_p.E171K Q8IUQ0 CLVS1_HUMAN clavesin 1 171 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity p.E171K(1) endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 AGTCCTAATCGAAGATCCGGA 0.438000 64 78 0 0 1 0 0 FFAR3 2865 broad.mit.edu 37 19 35849909 35849909 + Silent SNP C C T rs148149328 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:35849909C>T ENST00000327809.4 + 2 318 c.117C>T c.(115-117)ttC>ttT p.F39F FFAR3_ENST00000594310.1_Silent_p.F39F NM_005304.3 NP_005295.1 O14843 FFAR3_HUMAN free fatty acid receptor 3 39 integral to plasma membrane G-protein coupled receptor activity|lipid binding p.F39F(1) endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1) 17 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) TGGTGGTCTTCGTGGGCAAGC 0.637000 68 256 0 0 1 0 0 OR8H3 390152 broad.mit.edu 37 11 55889948 55889948 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:55889948C>T ENST00000313472.3 + 1 100 c.100C>T c.(100-102)Ctc>Ttc p.L34F NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L34I(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) GCTATTTCTCCTCATATACCT 0.453000 114 147 0 0 1 0 0 PIGV 55650 broad.mit.edu 37 1 27121213 27121213 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:27121213C>T ENST00000374145.1 + 3 1370 c.688C>T c.(688-690)Cct>Tct p.P230S PIGV_ENST00000078527.4_Missense_Mutation_p.P230S|PIGV_ENST00000449950.2_Intron NM_001202554.1 NP_001189483.1 Q9NUD9 PIGV_HUMAN phosphatidylinositol glycan anchor biosynthesis, class V 230 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane glycolipid mannosyltransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 14 all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227) GATGCTGAATCCTCTGAGACA 0.498000 58 83 0 0 1 0 0 PID1 55022 broad.mit.edu 37 2 229890376 229890376 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:229890376G>A ENST00000392054.3 - 4 1058 c.719C>T c.(718-720)tCc>tTc p.S240F PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Missense_Mutation_p.S209F|PID1_ENST00000409462.1_Missense_Mutation_p.S160F|PID1_ENST00000354069.6_Missense_Mutation_p.S242F NM_017933.4 NP_060403.3 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 242 PID. cytoplasm breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) CAATTCCTGGGAAACCTCTTC 0.512000 42 104 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40770556 40770556 + Splice_Site SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr20:40770556G>A ENST00000373198.3 - 19 3070 c.2836_splice c.e19+1 p.S945_splice PTPRT_ENST00000373190.1_Splice_Site_p.S922_splice|PTPRT_ENST00000373187.1_Splice_Site_p.S923_splice|PTPRT_ENST00000373201.1_Splice_Site_p.S913_splice|PTPRT_ENST00000373184.1_Splice_Site_p.S913_splice|PTPRT_ENST00000356100.2_Splice_Site_p.S932_splice|PTPRT_ENST00000373193.3_Splice_Site_p.S926_splice NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 923 Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GGCACCTACAGGATATGATGT 0.453000 74 111 0 0 1 0 0 ARID3C 138715 broad.mit.edu 37 9 34623571 34623571 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr9:34623571C>T ENST00000378909.2 - 4 808 c.716G>A c.(715-717)gGg>gAg p.G239E NM_001017363.1 NP_001017363.1 A6NKF2 ARI3C_HUMAN AT rich interactive domain 3C (BRIGHT-like) 239 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 14 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) AGGGGGCGGCCCTGCCAAGCC 0.746000 20 6 0 0 1 0 0 SLC18A1 6570 broad.mit.edu 37 8 20022394 20022394 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:20022394G>A ENST00000440926.1 - 11 1471 c.1001C>T c.(1000-1002)cCc>cTc p.P334L SLC18A1_ENST00000265808.7_Intron|SLC18A1_ENST00000276373.5_Missense_Mutation_p.P334L|SLC18A1_ENST00000381608.4_Missense_Mutation_p.P334L|SLC18A1_ENST00000519026.1_Intron|SLC18A1_ENST00000437980.1_Missense_Mutation_p.P334L NM_001135691.2 NP_001129163.1 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 1 334 neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Colorectal(74;0.0747) CTGCCACTTGGGGGAGCACAT 0.602000 31 4 0 0 1 0 0 CYP7B1 9420 broad.mit.edu 37 8 65527784 65527784 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:65527784G>A ENST00000310193.3 - 4 1029 c.856C>T c.(856-858)Cat>Tat p.H286Y CYP7B1_ENST00000523954.1_5'UTR NM_004820.3 NP_004811.1 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, polypeptide 1 286 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) AAGCCTAAATGATGTGCTGGG 0.423000 22 24 0 0 1 0 0 AHRR 57491 broad.mit.edu 37 5 428049 428049 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:428049C>T ENST00000316418.5 + 9 946 c.902C>T c.(901-903)gCg>gTg p.A301V AHRR_ENST00000505113.1_Missense_Mutation_p.A283V|AHRR_ENST00000506456.1_Missense_Mutation_p.A139V|AHRR_ENST00000512529.1_Missense_Mutation_p.A129V NM_020731.4 NP_065782.2 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 283 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity p.A297V(1) breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) CCCTCCGCAGCGGAGATGAAA 0.617000 10 14 0 0 1 0 0 SMYD1 150572 broad.mit.edu 37 2 88390598 88390598 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:88390598C>T ENST00000419482.2 + 4 681 c.596C>T c.(595-597)cCc>cTc p.P199L SMYD1_ENST00000444564.2_Missense_Mutation_p.P199L|SMYD1_ENST00000438570.1_Intron NM_198274.3 NP_938015.1 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 199 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 GGCATCTTCCCCAACCTGGGC 0.507000 81 83 0 0 1 0 0 HS3ST5 222537 broad.mit.edu 37 6 114379241 114379241 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:114379241C>T ENST00000312719.5 - 5 1409 c.221G>A c.(220-222)gGc>gAc p.G74D RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.G74D Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 5 74 heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding p.G74V(1) breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 41 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) GGAAGCGTTGCCCTTCCGGAA 0.607000 14 33 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906264 164906264 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:164906264C>T ENST00000475390.1 - 2 2798 c.2355G>A c.(2353-2355)ccG>ccA p.P785P SLITRK3_ENST00000241274.3_Silent_p.P785P O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 785 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 CACCCATTCCCGGTGGTTGTG 0.557000 HNSCC(40;0.11) 61 67 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7568235 7568235 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:7568235C>T ENST00000340209.4 + 2 426 c.129C>T c.(127-129)ccC>ccT p.P43P RBFOX1_ENST00000355637.4_Silent_p.P58P|RBFOX1_ENST00000422070.4_Silent_p.P81P|RBFOX1_ENST00000550418.1_Silent_p.P38P|RBFOX1_ENST00000547338.1_Silent_p.P38P|RBFOX1_ENST00000436368.2_Silent_p.P58P|RBFOX1_ENST00000311745.5_Silent_p.P58P|RBFOX1_ENST00000553186.1_Silent_p.P38P|RBFOX1_ENST00000535565.2_Silent_p.P74P|RBFOX1_ENST00000547372.1_Silent_p.P81P|RBFOX1_ENST00000552089.1_Silent_p.P74P Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 38 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 ACGGTATCCCCGCGGAATACA 0.607000 103 83 0 0 1 0 0 PITX1 5307 broad.mit.edu 37 5 134364829 134364829 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:134364829G>A ENST00000265340.7 - 3 1001 c.585C>T c.(583-585)tcC>tcT p.S195S PITX1_ENST00000506438.1_Silent_p.S195S NM_002653.4 NP_002644.4 P78337 PITX1_HUMAN paired-like homeodomain 1 195 Interacts with PIT-1 (By similarity). nucleolus sequence-specific DNA binding central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) READ - Rectum adenocarcinoma(2;0.0607) AGCTCTTGGTGGAGAGCGGCG 0.627000 24 41 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31600107 31600107 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:31600107C>T ENST00000376033.2 + 16 3891 c.3657C>T c.(3655-3657)tcC>tcT p.S1219S PRRC2A_ENST00000376007.4_Silent_p.S1219S NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 1219 4 X 57 AA type A repeats. 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 GGCCTCTGTCCCCTGTGGCGC 0.607000 13 48 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36898910 36898910 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:36898910C>T ENST00000301807.6 - 12 2418 c.521G>A c.(520-522)gGa>gAa p.G174E TRANK1_ENST00000429976.2_Missense_Mutation_p.G724E|TRANK1_ENST00000428977.2_Missense_Mutation_p.G174E NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 724 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 ATCTTTCTTTCCTTCTTTGCC 0.562000 43 56 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10080284 10080284 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:10080284C>T ENST00000264828.3 - 56 4150 c.4065G>A c.(4063-4065)ggG>ggA p.G1355G NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1355 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GACCCTCAGGCCCCACACGTC 0.677000 8 29 0 0 1 0 0 SEMG2 6407 broad.mit.edu 37 20 43851810 43851810 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr20:43851810C>T ENST00000372769.3 + 2 1627 c.1537C>T c.(1537-1539)Cct>Tct p.P513S NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 513 Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) GACACCAAATCCTAATCAAGA 0.403000 43 37 0 0 1 0 0 FAM49B 51571 broad.mit.edu 37 8 130864455 130864455 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:130864455G>A ENST00000519824.2 - 8 859 c.586C>T c.(586-588)Cca>Tca p.P196S FAM49B_ENST00000522250.1_Missense_Mutation_p.P50S|FAM49B_ENST00000522941.1_Missense_Mutation_p.P50S|FAM49B_ENST00000519540.1_Missense_Mutation_p.P196S|FAM49B_ENST00000517654.1_Missense_Mutation_p.P196S|FAM49B_ENST00000522746.1_Missense_Mutation_p.P196S|FAM49B_ENST00000401979.2_Missense_Mutation_p.P196S|FAM49B_ENST00000519110.1_Missense_Mutation_p.P196S|FAM49B_ENST00000523509.1_Missense_Mutation_p.P196S NM_016623.4 NP_057707.3 Q9NUQ9 FA49B_HUMAN family with sequence similarity 49, member B 196 kidney(1)|large_intestine(6)|lung(4)|prostate(1) 12 Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155) LUAD - Lung adenocarcinoma(14;0.0989) TTCAGCATTGGAGTTGCCTCA 0.413000 55 60 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228128574 228128574 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:228128574G>A ENST00000396578.3 + 21 1391 c.1229G>A c.(1228-1230)gGa>gAa p.G410E AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000396588.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 410 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGCCGCCCAGGAAAGGATGCC 0.572000 33 74 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24835074 24835074 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:24835074G>A ENST00000376454.3 + 21 5683 c.5653G>A c.(5653-5655)Ggc>Agc p.G1885S KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000376452.3_Missense_Mutation_p.G1316S|KIAA1217_ENST00000376462.1_Missense_Mutation_p.G1206S|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000458595.1_Missense_Mutation_p.G1291S NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 1885 Ser-rich. embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GAGTCAAAATGGCCGAGCAcc 0.522000 45 12 0 0 1 0 0 AXDND1 126859 broad.mit.edu 37 1 179504007 179504007 + Nonsense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:179504007C>T ENST00000367618.3 + 25 3328 c.2941C>T c.(2941-2943)Caa>Taa p.Q981* NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 981 Glu-rich. NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 gaaagaaaatcaagatgaaag 0.328000 25 35 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35965804 35965804 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:35965804C>T ENST00000274278.3 - 4 884 c.527G>A c.(526-528)gGg>gAg p.G176E UGT3A1_ENST00000507113.1_Missense_Mutation_p.G142E|UGT3A1_ENST00000503189.1_Missense_Mutation_p.G176E|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Missense_Mutation_p.G122E NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 176 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GCTTGGTAGCCCAAAATCCAA 0.438000 12 44 0 0 1 0 0 USP53 54532 broad.mit.edu 37 4 120193171 120193171 + Missense_Mutation SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:120193171A>G ENST00000450251.1 + 12 2700 c.2156A>G c.(2155-2157)aAa>aGa p.K719R USP53_ENST00000274030.6_Missense_Mutation_p.K719R Q70EK8 UBP53_HUMAN ubiquitin specific peptidase 53 719 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 27 AGTGGTGTTAAAGAAACAGTA 0.343000 36 81 0 0 1 0 0 TSPAN32 10077 broad.mit.edu 37 11 2338704 2338704 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:2338704G>A ENST00000182290.4 + 9 987 c.850G>A c.(850-852)Gag>Aag p.E284K TSPAN32_ENST00000451520.2_Missense_Mutation_p.E273K|TSPAN32_ENST00000381121.3_Intron NM_139022.2 NP_620591.3 Q96QS1 TSN32_HUMAN tetraspanin 32 284 cell-cell signaling integral to membrane breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1) 8 all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) GTGGCTGCAGGAGAGCGATGC 0.622000 12 11 0 0 1 0 0 GDF3 9573 broad.mit.edu 37 12 7848234 7848234 + Nonsense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:7848234G>A ENST00000329913.3 - 1 138 c.91C>T c.(91-93)Caa>Taa p.Q31* NM_020634.1 NP_065685.1 Q9NR23 GDF3_HUMAN growth differentiation factor 3 31 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 CCCAGAAATTGGAGAAAGACA 0.478000 14 24 0 0 1 0 0 OR2A25 392138 broad.mit.edu 37 7 143771783 143771783 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:143771783C>T ENST00000408898.2 + 1 509 c.471C>T c.(469-471)gtC>gtT p.V157V NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) TGGCCCTTGTCCATCTAGTGT 0.453000 86 105 0 0 1 0 0 BPI 671 broad.mit.edu 37 20 36938934 36938934 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr20:36938934C>T ENST00000262865.4 + 4 517 c.428C>T c.(427-429)tCc>tTc p.S143F CTD-2308N23.2_ENST00000437016.1_RNA NM_001725.2 NP_001716.2 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 143 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) GAAGGCATGTCCATTTCGGCT 0.507000 37 51 0 0 1 0 0 DRD2 1813 broad.mit.edu 37 11 113295346 113295346 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:113295346C>T ENST00000362072.3 - 2 372 c.28G>A c.(28-30)Gat>Aat p.D10N DRD2_ENST00000542968.1_Missense_Mutation_p.D10N|DRD2_ENST00000346454.3_Missense_Mutation_p.D10N|DRD2_ENST00000544518.1_Missense_Mutation_p.D10N|DRD2_ENST00000538967.1_Missense_Mutation_p.D10N|DRD2_ENST00000355319.2_Missense_Mutation_p.D10N NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 10 activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) AGATCATCATCATACCAGGAC 0.582000 41 45 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589520 140589520 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:140589520C>T ENST00000239450.2 + 1 1230 c.1041C>T c.(1039-1041)atC>atT p.I347I PCDHB12_ENST00000541609.1_Silent_p.I10I NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 347 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCCTGAAATCACTGTGTCAT 0.438000 43 24 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95481750 95481750 + RNA SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:95481750C>T ENST00000432432.2 - 0 1610 NR_040113.1 TTATGAAAATCCTAAATAAAA 0.303000 52 103 0 0 1 0 0 ZFX 7543 broad.mit.edu 37 X 24228975 24228975 + Nonsense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:24228975C>T ENST00000379177.1 + 11 2327 c.1900C>T c.(1900-1902)Cag>Tag p.Q634* ZFX_ENST00000338565.3_Nonsense_Mutation_p.Q584*|ZFX_ENST00000540034.1_Nonsense_Mutation_p.Q673*|ZFX_ENST00000539115.1_Nonsense_Mutation_p.Q405*|ZFX_ENST00000379188.3_Nonsense_Mutation_p.Q634*|ZFX_ENST00000304543.5_Nonsense_Mutation_p.Q634* NM_001178085.1|NM_003410.3 NP_001171556.1|NP_003401.2 P17010 ZFX_HUMAN zinc finger protein, X-linked 634 Missing (in Ref. 5). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 CAAAACACACCAGTGTTTGCA 0.423000 73 10 0 0 1 0 0 PRELP 5549 broad.mit.edu 37 1 203453155 203453155 + Missense_Mutation SNP G G T rs146499921 by1000genomes TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:203453155G>T ENST00000343110.2 + 2 970 c.843G>T c.(841-843)agG>agT p.R281S NM_002725.3|NM_201348.1 NP_002716.1|NP_958505.1 P51888 PRELP_HUMAN proline/arginine-rich end leucine-rich repeat protein 281 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 BRCA - Breast invasive adenocarcinoma(75;0.109) TGACAGACAGGGGACTCCCCA 0.498000 50 71 1.02067e-35 1.03805e-35 1 1 0 CCDC63 160762 broad.mit.edu 37 12 111342456 111342456 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:111342456G>A ENST00000308208.5 + 11 1649 c.1407G>A c.(1405-1407)gtG>gtA p.V469V CCDC63_ENST00000552694.1_Silent_p.V390V|CCDC63_ENST00000545036.1_Silent_p.V429V NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 469 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 TCCTGGAAGTGGAAGGGGCAG 0.577000 31 62 0 0 1 0 0 ZNF525 170958 broad.mit.edu 37 19 53885228 53885228 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:53885228C>T ENST00000467003.1 + 4 1489 c.1288C>T c.(1288-1290)Cct>Tct p.P430S ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000355326.3_Missense_Mutation_p.P184S|ZNF525_ENST00000474037.1_Missense_Mutation_p.P466S zinc finger protein 525 endometrium(3)|kidney(3)|lung(3) 9 TGGAGAGAAACCTTGCAAGTG 0.373000 17 21 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82816726 82816726 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:82816726G>A ENST00000265077.3 + 7 3166 c.2601G>A c.(2599-2601)gaG>gaA p.E867E VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Silent_p.E867E|VCAN_ENST00000512590.2_Silent_p.E819E NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 867 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AGTTAGAGGAGGTTACTGATG 0.383000 43 88 0 0 1 0 0 SGK1 6446 broad.mit.edu 37 6 134491532 134491532 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:134491532G>A ENST00000367858.5 - 14 2052 c.1455C>T c.(1453-1455)acC>acT p.T485T SGK1_ENST00000475719.2_Silent_p.T346T|SGK1_ENST00000528577.1_Silent_p.T418T|SGK1_ENST00000367857.5_Silent_p.T380T|SGK1_ENST00000237305.7_Silent_p.T390T|SGK1_ENST00000413996.3_Silent_p.T404T NM_001143676.1 NP_001137148.1 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 390 apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1) 46 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) CAGGCTCTTCGGTAAACTCGG 0.557000 28 30 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58084492 58084492 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:58084492C>T ENST00000357272.4 + 8 1367 c.1202C>T c.(1201-1203)aCc>aTc p.T401I FLNB_ENST00000419752.2_Missense_Mutation_p.T232I|FLNB_ENST00000493452.1_Missense_Mutation_p.T232I|FLNB_ENST00000490882.1_Missense_Mutation_p.T401I|FLNB_ENST00000358537.3_Missense_Mutation_p.T401I|FLNB_ENST00000348383.5_Missense_Mutation_p.T401I|FLNB_ENST00000429972.2_Missense_Mutation_p.T401I|FLNB_ENST00000295956.4_Missense_Mutation_p.T401I O75369 FLNB_HUMAN filamin B, beta 401 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GGGAAGAACACCGTGGAGTTG 0.532000 45 53 0 0 1 0 0 MLH1 4292 broad.mit.edu 37 3 37067303 37067303 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:37067303C>T ENST00000231790.2 + 12 1430 c.1214C>T c.(1213-1215)tCc>tTc p.S405F MLH1_ENST00000435176.1_Missense_Mutation_p.S307F|MLH1_ENST00000455445.2_Missense_Mutation_p.S164F|MLH1_ENST00000458205.2_Missense_Mutation_p.S164F|MLH1_ENST00000536378.1_Missense_Mutation_p.S164F|MLH1_ENST00000539477.1_Missense_Mutation_p.S164F NM_000249.3|NM_001258273.1 NP_000240.1|NP_001245202.1 P40692 MLH1_HUMAN mutL homolog 1 405 mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding p.0?(1) NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 127 AAACCCCTGTCCAGTCAGCCC 0.522000 1 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian, CNS""" """colorectal, endometrial, ovarian, CNS""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 75 71 0 0 1 0 0 C5AR1 728 broad.mit.edu 37 19 47823172 47823172 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:47823172C>T ENST00000355085.3 + 2 160 c.138C>T c.(136-138)gtC>gtT p.V46V NM_001736.3 NP_001727.1 P21730 C5AR_HUMAN complement component 5a receptor 1 46 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 p.V46V(1) 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) TCTTTGCAGTCGTCTTCCTGG 0.552000 43 60 0 0 1 0 0 PHKA1 5255 broad.mit.edu 37 X 71895930 71895930 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:71895930C>T ENST00000373545.3 - 6 1046 c.608G>A c.(607-609)gGa>gAa p.G203E PHKA1_ENST00000339490.3_Missense_Mutation_p.G203E|PHKA1_ENST00000541944.1_Missense_Mutation_p.G203E|PHKA1_ENST00000373539.3_Missense_Mutation_p.G203E|PHKA1_ENST00000373542.4_Missense_Mutation_p.G203E P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 203 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) CTTTGCCATTCCAACTGAACT 0.418000 31 3 0 0 1 0 0 MYO19 80179 broad.mit.edu 37 17 34881076 34881076 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:34881076C>T ENST00000431794.3 - 6 919 c.397G>A c.(397-399)Gag>Aag p.E133K MYO19_ENST00000544606.1_Intron|MYO19_ENST00000268852.9_Missense_Mutation_p.E133K|MYO19_ENST00000586007.1_Missense_Mutation_p.E133K NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 133 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GCACCACTCTCTCCACTGACA 0.527000 105 111 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91804390 91804390 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:91804390C>T ENST00000389857.6 - 10 1095 c.1009G>A c.(1009-1011)Gag>Aag p.E337K NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 337 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TGCAGCTTCTCCTTGCAGCGG 0.627000 31 29 0 0 1 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24980025 24980025 + Missense_Mutation SNP A A T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:24980025A>T ENST00000289968.6 - 5 410 c.341T>A c.(340-342)tTt>tAt p.F114Y ARHGAP17_ENST00000303665.5_Missense_Mutation_p.F114Y|ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000441763.2_Missense_Mutation_p.F114Y NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 114 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) CTTCTCAACAAAGACTTCGTG 0.557000 58 81 0 0 1 0 0 SGK1 6446 broad.mit.edu 37 6 134491533 134491533 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:134491533G>A ENST00000367858.5 - 14 2051 c.1454C>T c.(1453-1455)aCc>aTc p.T485I SGK1_ENST00000475719.2_Missense_Mutation_p.T346I|SGK1_ENST00000528577.1_Missense_Mutation_p.T418I|SGK1_ENST00000367857.5_Missense_Mutation_p.T380I|SGK1_ENST00000237305.7_Missense_Mutation_p.T390I|SGK1_ENST00000413996.3_Missense_Mutation_p.T404I NM_001143676.1 NP_001137148.1 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 390 apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1) 46 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) AGGCTCTTCGGTAAACTCGGG 0.552000 29 30 0 0 1 0 0 SPEM1 374768 broad.mit.edu 37 17 7324546 7324546 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:7324546C>T ENST00000323675.3 + 3 577 c.552C>T c.(550-552)acC>acT p.T184T RP11-104H15.7_ENST00000575310.1_RNA NM_199339.2 NP_955371.2 Q8N4L4 SPEM1_HUMAN spermatid maturation 1 184 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 12 Prostate(122;0.173) TCCAGCCTACCGTAGAGGAAA 0.612000 34 9 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68264870 68264870 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:68264870G>A ENST00000347230.4 - 11 2247 c.2109C>T c.(2107-2109)agC>agT p.S703S ZFYVE26_ENST00000555452.1_Silent_p.S703S NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 703 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TCTCAGGAGGGCTGCGGCTAC 0.522000 40 21 0 0 1 0 0 SPERT 220082 broad.mit.edu 37 13 46287415 46287415 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr13:46287415G>A ENST00000378966.3 + 2 563 c.147G>A c.(145-147)gcG>gcA p.A49A SPERT_ENST00000310521.1_Silent_p.A85A Q8NA61 SPERT_HUMAN spermatid associated 85 cytoplasmic membrane-bounded vesicle NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 15 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) GCAGGATGGCGAGCCAGCACT 0.672000 23 104 0 0 1 0 0 CAPN13 92291 broad.mit.edu 37 2 30977214 30977214 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:30977214C>T ENST00000295055.8 - 9 1059 c.883G>A c.(883-885)Gaa>Aaa p.E295K CAPN13_ENST00000534090.2_Missense_Mutation_p.E295K NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 295 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) TCACAGGTTTCCTCCCACTCC 0.448000 10 9 0 0 1 0 0 RORC 6097 broad.mit.edu 37 1 151789199 151789199 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:151789199C>T ENST00000356728.6 - 3 330 c.176G>A c.(175-177)cGa>cAa p.R59Q RORC_ENST00000318247.6_Missense_Mutation_p.R80Q|RORC_ENST00000392697.3_Missense_Mutation_p.R134Q NM_001001523.1 NP_001001523.1 P51449 RORG_HUMAN RAR-related orphan receptor C 80 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GCATCGGTTTCGGCTGGTGCG 0.652000 9 7 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152644623 152644623 + Missense_Mutation SNP G G A rs149215868 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:152644623G>A ENST00000367255.5 - 82 16508 c.15907C>T c.(15907-15909)Cgg>Tgg p.R5303W SYNE1_ENST00000265368.4_Missense_Mutation_p.R5303W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R5232W|SYNE1_ENST00000341594.5_Missense_Mutation_p.R4996W|SYNE1_ENST00000448038.1_Missense_Mutation_p.R5232W NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5303 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTCAGGCACCGATCTTGCATG 0.537000 HNSCC(10;0.0054) 32 31 0 0 1 0 0 ZC3H12A 80149 broad.mit.edu 37 1 37949106 37949106 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:37949106C>T ENST00000373087.6 + 6 1810 c.1694C>T c.(1693-1695)cCc>cTc p.P565L NM_025079.2 NP_079355.2 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 565 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGTGTGTTTCCCCCGCACCTG 0.667000 43 46 0 0 1 0 0 PLA1A 51365 broad.mit.edu 37 3 119328347 119328347 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:119328347C>T ENST00000273371.4 + 4 558 c.486C>T c.(484-486)atC>atT p.I162I PLA1A_ENST00000494440.1_Silent_p.I146I|PLA1A_ENST00000488919.1_5'UTR|PLA1A_ENST00000495992.1_Silent_p.I146I NM_015900.3 NP_056984.1 Q53H76 PLA1A_HUMAN phospholipase A1 member A 162 lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CAATCCACATCATTGGTGTTA 0.587000 61 78 0 0 1 0 0 SCAP 22937 broad.mit.edu 37 3 47470067 47470067 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:47470067G>A ENST00000265565.5 - 4 758 c.346C>T c.(346-348)Cgt>Tgt p.R116C SCAP_ENST00000545718.1_Intron|SCAP_ENST00000441517.2_Intron NM_012235.2 NP_036367.2 Q12770 SCAP_HUMAN SREBF chaperone 116 cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) AAAGGTGAACGAAATACATCT 0.557000 68 98 0 0 1 0 0 CCDC93 54520 broad.mit.edu 37 2 118753067 118753067 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:118753067G>A ENST00000376300.2 - 6 611 c.474C>T c.(472-474)ttC>ttT p.F158F CCDC93_ENST00000319432.5_Silent_p.F158F|CCDC93_ENST00000460781.1_5'UTR NM_019044.4 NP_061917.3 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 158 breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2) 29 TTCTCTTTATGAAGTCATCAT 0.423000 51 56 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196799458 196799458 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:196799458C>T ENST00000312428.6 - 21 3428 c.3328G>A c.(3328-3330)Gaa>Aaa p.E1110K NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1110 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TCTAAAGTTTCCGTAAATTCT 0.378000 75 46 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86468435 86468435 + Silent SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:86468435A>G ENST00000361669.2 + 4 2704 c.1605A>G c.(1603-1605)gaA>gaG p.E535E GRM3_ENST00000546348.1_Silent_p.E127E|GRM3_ENST00000536043.1_Silent_p.E407E|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 535 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TCCCCTGTGAACCCTACGAAT 0.532000 67 94 0 0 1 0 0 TTC37 9652 broad.mit.edu 37 5 94820512 94820512 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:94820512G>A ENST00000358746.2 - 38 4267 c.3969C>T c.(3967-3969)tcC>tcT p.S1323S NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 1323 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 ACTTTTCAAGGGACTGGTTGT 0.343000 40 37 0 0 1 0 0 CFAP221 200373 broad.mit.edu 37 2 120362840 120362840 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:120362840G>A ENST00000602047.1 + 12 1362 c.250G>A c.(250-252)Gaa>Aaa p.E84K PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000413369.3_Missense_Mutation_p.E370K Q4G0U5 PCDP1_HUMAN 370 cilium calmodulin binding Colorectal(110;0.196) GGACATTCACGAAGAGATGGA 0.378000 26 33 0 0 1 0 0 GLYATL1 92292 broad.mit.edu 37 11 58711097 58711097 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:58711097C>T ENST00000300079.5 + 2 156 c.106C>T c.(106-108)Cca>Tca p.P36S RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_5'UTR NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 0 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) cctgcaggatccaattgtgtc 0.468000 22 40 0 0 1 0 0 LAMB2 3913 broad.mit.edu 37 3 49168499 49168499 + Nonsense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:49168499G>A ENST00000418109.1 - 8 963 c.799C>T c.(799-801)Cga>Tga p.R267* LAMB2_ENST00000305544.4_Nonsense_Mutation_p.R267* NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 267 Laminin N-terminal. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TACTTCTCTCGGATCTCCCTC 0.582000 47 57 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103471423 103471423 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:103471423G>A ENST00000358392.2 - 18 2169 c.1852C>T c.(1852-1854)Ccg>Tcg p.P618S COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000353414.4_Missense_Mutation_p.P567S|COL11A1_ENST00000512756.1_Missense_Mutation_p.P490S|COL11A1_ENST00000370096.3_Missense_Mutation_p.P606S NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 606 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) GGCAGACCCGGAAGTCCATCA 0.363000 52 74 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18524145 18524145 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:18524145C>T ENST00000433979.1 + 12 1773 c.1657C>T c.(1657-1659)Cca>Tca p.P553S PIK3C2G_ENST00000266497.5_Missense_Mutation_p.P553S|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.P594S NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 553 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) AAAGTCACTTCCAAGGGAATC 0.368000 6 8 0 0 1 0 0 KIAA1683 80726 broad.mit.edu 37 19 18376202 18376202 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:18376202C>T ENST00000392413.3 - 3 2363 c.2148G>A c.(2146-2148)atG>atA p.M716I KIAA1683_ENST00000600328.2_Missense_Mutation_p.M716I|KIAA1683_ENST00000600359.2_Missense_Mutation_p.M670I NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 716 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 TCTGGGAATGCATCTTGCTCA 0.627000 41 52 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4772483 4772483 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:4772483C>T ENST00000378191.4 + 2 934 c.553C>T c.(553-555)Ccc>Tcc p.P185S AJAP1_ENST00000378190.3_Missense_Mutation_p.P185S NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 185 Thr-rich. cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) CGCCTGGGGGCCCACGGGGGA 0.652000 13 5 0 0 1 0 0 PDILT 204474 broad.mit.edu 37 16 20384393 20384393 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:20384393C>T ENST00000302451.4 - 6 981 c.733G>A c.(733-735)Gaa>Aaa p.E245K NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 245 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 CGATTGAGTTCCTGTTTGTTG 0.423000 35 81 0 0 1 0 0 ABTB1 80325 broad.mit.edu 37 3 127395238 127395238 + Nonsense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:127395238G>A ENST00000468137.1 + 4 634 c.18G>A c.(16-18)tgG>tgA p.W6* ABTB1_ENST00000453791.2_Nonsense_Mutation_p.W6*|ABTB1_ENST00000232744.8_Nonsense_Mutation_p.W148*|ABTB1_ENST00000393363.3_Nonsense_Mutation_p.W6* Q969K4 ABTB1_HUMAN ankyrin repeat and BTB (POZ) domain containing 1 148 cytoplasm|nucleolus|plasma membrane translation elongation factor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 10 ACACCAAATGGAAGGGCAAGA 0.577000 45 58 0 0 1 0 0 LIMCH1 22998 broad.mit.edu 37 4 41652581 41652581 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:41652581G>A ENST00000313860.7 + 13 1891 c.1837G>A c.(1837-1839)Gag>Aag p.E613K LIMCH1_ENST00000381753.4_Missense_Mutation_p.E447K|LIMCH1_ENST00000514096.1_Missense_Mutation_p.E454K|LIMCH1_ENST00000503057.1_Missense_Mutation_p.E998K|LIMCH1_ENST00000512946.1_Missense_Mutation_p.E613K|LIMCH1_ENST00000509277.1_Missense_Mutation_p.E447K|LIMCH1_ENST00000508501.1_Missense_Mutation_p.E613K|LIMCH1_ENST00000396595.3_Missense_Mutation_p.E459K|LIMCH1_ENST00000512820.1_Missense_Mutation_p.E601K|LIMCH1_ENST00000512632.1_Missense_Mutation_p.E613K|LIMCH1_ENST00000511496.1_Missense_Mutation_p.E454K|LIMCH1_ENST00000513024.1_Missense_Mutation_p.E442K NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 613 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 CGGTAGCATCGAGATCAACAT 0.502000 24 23 0 0 1 0 0 KCNJ10 3766 broad.mit.edu 37 1 160011957 160011957 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:160011957G>A ENST00000368089.3 - 2 592 c.366C>T c.(364-366)tcC>tcT p.S122S KCNJ10_ENST00000509700.1_5'UTR NM_002241.4 NP_002232.2 P78508 IRK10_HUMAN potassium inwardly-rectifying channel, subfamily J, member 10 122 integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGGATTCAAGGGAGAAGAGGA 0.577000 43 75 0 0 1 0 0 LRRFIP2 9209 broad.mit.edu 37 3 37190414 37190414 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:37190414C>T ENST00000421307.1 - 3 483 c.61G>A c.(61-63)Gat>Aat p.D21N LRRFIP2_ENST00000354379.4_Missense_Mutation_p.D21N|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.D21N|LRRFIP2_ENST00000421276.2_Missense_Mutation_p.D21N|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.D21N|LRRFIP2_ENST00000440230.1_Missense_Mutation_p.D21N NM_006309.2 NP_006300.1 Q9Y608 LRRF2_HUMAN leucine rich repeat (in FLII) interacting protein 2 21 DVL3-binding. Wnt receptor signaling pathway LRR domain binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 AAAGCTTCATCTTCTGCAGAA 0.393000 49 66 0 0 1 0 0 USP17L2 377630 broad.mit.edu 37 8 11994905 11994905 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:11994905G>A ENST00000333796.3 - 1 1681 c.1365C>T c.(1363-1365)gtC>gtT p.V455V FAM66D_ENST00000434078.2_RNA NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2 NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2 Q6R6M4 U17L2_HUMAN ubiquitin specific peptidase 17-like family member 2 455 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 GGGTACCTTCGACTTTTCTGA 0.473000 37 98 0 0 1 0 0 OLFML2B 25903 broad.mit.edu 37 1 161989809 161989809 + Missense_Mutation SNP G G A rs142774017 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:161989809G>A ENST00000294794.3 - 2 761 c.338C>T c.(337-339)tCg>tTg p.S113L OLFML2B_ENST00000367940.2_Missense_Mutation_p.S113L NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 113 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) ACACTTGCACGACGAGCCTGA 0.617000 41 45 0 0 1 0 0 FAM198B 51313 broad.mit.edu 37 4 159091743 159091743 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:159091743G>A ENST00000296530.8 - 2 1406 c.785C>T c.(784-786)cCt>cTt p.P262L FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000585682.1_Missense_Mutation_p.P262L|FAM198B_ENST00000592057.1_Missense_Mutation_p.P262L|FAM198B_ENST00000393807.5_Missense_Mutation_p.P262L NM_016613.6 NP_057697.2 Q6UWH4 F198B_HUMAN family with sequence similarity 198, member B 262 Golgi membrane|integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1) 26 ACAGGGGCTAGGGCCACAGCG 0.657000 OREG0016378 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 55 0 0 1 0 0 FAM114A1 92689 broad.mit.edu 37 4 38907208 38907208 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:38907208G>A ENST00000358869.2 + 5 678 c.502G>A c.(502-504)Gga>Aga p.G168R FAM114A1_ENST00000515037.1_5'UTR NM_138389.2 NP_612398.2 Q8IWE2 NXP20_HUMAN family with sequence similarity 114, member A1 168 cytoplasm haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 20 TGTAAATTCTGGATCTTCTGA 0.433000 66 78 0 0 1 0 0 ATF4P4 100127952 broad.mit.edu 37 11 113660285 113660285 + RNA SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:113660285G>A ENST00000393544.2 + 0 333 CCACCAGAAGGAGCTAGGCAA 0.617000 17 20 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132498056 132498056 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:132498056C>T ENST00000333577.4 + 19 3850 c.3741C>T c.(3739-3741)atC>atT p.I1247I EP400_ENST00000389561.2_Silent_p.I1211I|EP400_ENST00000389562.2_Silent_p.I1210I|EP400_ENST00000332482.4_Silent_p.I1174I|EP400_ENST00000330386.6_Silent_p.I1211I Q96L91 EP400_HUMAN E1A binding protein p400 1247 Helicase ATP-binding.|Interactions with RUVBL1 and RUVBL2. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TGCTTCTGATCGACTCGCCGC 0.582000 22 64 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48349628 48349628 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:48349628G>A ENST00000435803.1 + 24 9430 c.9406G>A c.(9406-9408)Gaa>Aaa p.E3136K NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3136 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TCCCAAAGGGGAAAAATCTTG 0.483000 74 97 0 0 1 0 0 DOHH 83475 broad.mit.edu 37 19 3492321 3492321 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:3492321G>A ENST00000427575.1 - 4 979 c.528C>T c.(526-528)taC>taT p.Y176Y DOHH_ENST00000250937.3_Silent_p.Y176Y NM_001145165.1 NP_001138637.1 Q9BU89 DOHH_HUMAN deoxyhypusine hydroxylase/monooxygenase 176 peptidyl-lysine modification to hypusine|post-translational protein modification cytosol deoxyhypusine monooxygenase activity|metal ion binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) ACATGGCGCGGTATCGCTCGA 0.741000 10 6 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103861 53103861 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:53103861C>T ENST00000408890.4 + 1 513 c.497C>T c.(496-498)gCc>gTc p.A166V NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 166 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 cgccccgccgcccAGGAGCTC 0.721000 11 12 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141740567 141740567 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:141740567C>T ENST00000475668.2 + 21 2473 c.2419C>T c.(2419-2421)Cct>Tct p.P807S MGAM_ENST00000549489.2_Missense_Mutation_p.P807S O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 807 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity p.P807S(2) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GATGGAACTTCCTGGAGACAA 0.488000 21 19 0 0 1 0 0 TSHB 7252 broad.mit.edu 37 1 115576117 115576117 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:115576117C>T ENST00000256592.1 + 2 202 c.134C>T c.(133-135)aCc>aTc p.T45I TSHB_ENST00000369517.1_Missense_Mutation_p.T45I NM_000549.3|NM_001277991.1 NP_000540.2|NP_001264920.1 P01222 TSHB_HUMAN thyroid stimulating hormone, beta 45 anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing extracellular region hormone activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 Lung SC(450;0.211) all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) ATCAACACCACCATCTGTGCT 0.408000 55 103 0 0 1 0 0 LOC100631378 100631378 broad.mit.edu 37 19 38314532 38314532 + RNA SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:38314532G>A ENST00000592640.1 - 0 1545 CTD-2554C21.2_ENST00000590433.1_lincRNA NR_040015.1 GAAGAAAAAGGAAGATGGTGT 0.398000 13 8 0 0 1 0 0 ATP13A3 79572 broad.mit.edu 37 3 194147832 194147832 + Missense_Mutation SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:194147832A>G ENST00000439040.1 - 29 3888 c.3097T>C c.(3097-3099)Tgg>Cgg p.W1033R ATP13A3_ENST00000256031.4_Missense_Mutation_p.W1033R Q9H7F0 AT133_HUMAN ATPase type 13A3 1033 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) ACTTCATACCAAGGTTGCTGT 0.348000 29 42 0 0 1 0 0 OR2T10 127069 broad.mit.edu 37 1 248756846 248756846 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:248756846G>A ENST00000330500.2 - 1 254 c.224C>T c.(223-225)tCt>tTt p.S75F NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GACAGTGACAGAAATATATGT 0.448000 27 2 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34620245 34620245 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:34620245G>A ENST00000374789.3 - 19 2967 c.2642C>T c.(2641-2643)tCc>tTc p.S881F PARD3_ENST00000374794.3_Missense_Mutation_p.S806F|PARD3_ENST00000374790.3_Missense_Mutation_p.S821F|PARD3_ENST00000374788.3_Missense_Mutation_p.S878F|PARD3_ENST00000374776.1_Missense_Mutation_p.S835F|PARD3_ENST00000544292.1_Missense_Mutation_p.S594F|PARD3_ENST00000346874.4_Missense_Mutation_p.S881F|PARD3_ENST00000350537.4_Missense_Mutation_p.S835F|PARD3_ENST00000374773.1_Missense_Mutation_p.S848F|PARD3_ENST00000545260.1_Missense_Mutation_p.S791F|PARD3_ENST00000545693.1_Missense_Mutation_p.S865F|PARD3_ENST00000340077.5_Missense_Mutation_p.S878F|PARD3_ENST00000466092.1_5'UTR NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 881 Interacts with PRKCZ (By similarity). activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding p.P880_G883del(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) CAGACCCAGGGAAGGACCCAC 0.483000 38 8 0 0 1 0 0 OR4K14 122740 broad.mit.edu 37 14 20483167 20483167 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:20483167G>A ENST00000305045.2 - 1 185 c.186C>T c.(184-186)ttC>ttT p.F62F NM_001004712.1 NP_001004712.1 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, member 14 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6) 37 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) TCCCCAGCAGGAAGTACATAG 0.468000 20 23 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103889 53103889 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:53103889G>A ENST00000408890.4 + 1 541 c.525G>A c.(523-525)cgG>cgA p.R175R NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 175 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCTGCACCCGGGAGACTCTGC 0.716000 15 15 0 0 1 0 0 TNFAIP3 7128 broad.mit.edu 37 6 138200427 138200427 + Silent SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:138200427T>C ENST00000237289.4 + 7 1911 c.1845T>C c.(1843-1845)ttT>ttC p.F615F NM_001270507.1|NM_001270508.1|NM_006290.3 NP_001257436.1|NP_001257437.1|NP_006281.1 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 615 Interaction with NAF1 (By similarity). anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(25) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 225 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) GCGTGTATTTTGGGACTCCAG 0.547000 """D, N, F""" """marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma""" 46 37 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13735353 13735353 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:13735353G>A ENST00000265104.4 - 68 11752 c.11648C>T c.(11647-11649)gCt>gTt p.A3883V NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3883 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCCTCGGGCAGCATACTTATA 0.443000 Kartagener syndrome 9 53 0 0 1 0 0 FOXJ3 22887 broad.mit.edu 37 1 42647663 42647663 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:42647663G>A ENST00000372572.1 - 14 1989 c.1678C>T c.(1678-1680)Cct>Tct p.P560S FOXJ3_ENST00000372571.1_Missense_Mutation_p.P74S|FOXJ3_ENST00000545068.1_Missense_Mutation_p.P560S|FOXJ3_ENST00000372573.1_Missense_Mutation_p.P560S|FOXJ3_ENST00000361776.1_Missense_Mutation_p.P526S|FOXJ3_ENST00000361346.1_Missense_Mutation_p.P560S NM_001198851.1 NP_001185780.1 Q9UPW0 FOXJ3_HUMAN forkhead box J3 560 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA 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 NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ACTGAAGGAGGGAGATTTTGC 0.428000 16 21 0 0 1 0 0 ARSJ 79642 broad.mit.edu 37 4 114824378 114824378 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:114824378G>A ENST00000315366.7 - 2 1718 c.852C>T c.(850-852)tcC>tcT p.S284S ARSJ_ENST00000541197.1_Silent_p.S284S NM_024590.3 NP_078866.3 Q5FYB0 ARSJ_HUMAN arylsulfatase family, member J 284 extracellular region arylsulfatase activity|metal ion binding endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) TGTTGATAATGGATCGGTAGT 0.408000 60 75 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12124262 12124262 + Nonsense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:12124262C>T ENST00000379388.2 + 4 4566 c.4234C>T c.(4234-4236)Cga>Tga p.R1412* NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1412 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TTCACCTTCTCGAGTGGGAGT 0.498000 60 94 0 0 1 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45885983 45885983 + Splice_Site SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:45885983G>A ENST00000418234.2 - 12 2328 c.2248_splice c.e12-1 p.D750_splice PPP1R13L_ENST00000360957.5_Splice_Site_p.D750_splice NM_001142502.1 NP_001135974.1 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 like 750 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) TCTGCTCGACGTCTGAAACAT 0.647000 30 43 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39230053 39230053 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:39230053G>A ENST00000340369.3 - 2 1112 c.884C>T c.(883-885)tCc>tTc p.S295F XIRP1_ENST00000396251.1_Missense_Mutation_p.S295F|XIRP1_ENST00000421646.1_Intron NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 295 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CTCCTCCAGGGAAATCCCCCG 0.637000 30 40 0 0 1 0 0 RIPK4 54101 broad.mit.edu 37 21 43161141 43161141 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr21:43161141C>T ENST00000352483.2 - 9 2420 c.2356G>A c.(2356-2358)Gcg>Acg p.A786T RIPK4_ENST00000332512.3_Missense_Mutation_p.A738T|RIPK4_ENST00000544709.1_Missense_Mutation_p.A675T|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000542057.1_Missense_Mutation_p.A675T Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 738 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 AGGTGCAGCGCGCTGAGCCCC 0.687000 101 14 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 55942356 55942356 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:55942356G>A ENST00000244728.5 - 18 2225 c.1828C>T c.(1828-1830)Cct>Tct p.P610S COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.P10S|COL21A1_ENST00000535941.1_Missense_Mutation_p.P610S|COL21A1_ENST00000370819.1_Missense_Mutation_p.P607S NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 610 Collagen-like 3. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) CGGTTTCCAGGAAATCCTGGG 0.313000 6 6 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47367742 47367742 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr18:47367742C>T ENST00000285039.7 - 35 4993 c.4694G>A c.(4693-4695)gGg>gAg p.G1565E MYO5B_ENST00000324581.6_Missense_Mutation_p.G680E|MYO5B_ENST00000592688.1_Missense_Mutation_p.G135E|SCARNA17_ENST00000589499.1_RNA NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1565 Dilute. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CACCTCATCCCCGCTGTACTG 0.507000 93 130 0 0 1 0 0 SPTLC3 55304 broad.mit.edu 37 20 13029765 13029765 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr20:13029765G>A ENST00000399002.2 + 2 564 c.290G>A c.(289-291)aGa>aAa p.R97K SPTLC3_ENST00000378194.4_Missense_Mutation_p.R97K|SPTLC3_ENST00000476791.1_3'UTR NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 97 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) GCTGTGGAAAGAAAAGAACAA 0.428000 60 54 0 0 1 0 0 CTNNA1 1495 broad.mit.edu 37 5 138163296 138163296 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:138163296C>T ENST00000302763.7 + 7 1041 c.951C>T c.(949-951)gcC>gcT p.A317A CTNNA1_ENST00000518825.1_Silent_p.A317A|CTNNA1_ENST00000355078.5_Silent_p.A214A NM_001903.2 NP_001894.2 P35221 CTNA1_HUMAN catenin (cadherin-associated protein), alpha 1, 102kDa 317 adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 52 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GTGGGGCTGCCTTGATGGCCG 0.577000 21 55 0 0 1 0 0 NMT1 4836 broad.mit.edu 37 17 43138778 43138778 + Silent SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:43138778T>C ENST00000592782.1 + 2 212 c.81T>C c.(79-81)caT>caC p.H27H NMT1_ENST00000258960.2_Silent_p.H27H|NMT1_ENST00000590114.1_3'UTR P30419 NMT1_HUMAN N-myristoyltransferase 1 27 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation actin cytoskeleton|cell junction|cytosol glycylpeptide N-tetradecanoyltransferase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 8 Prostate(33;0.155) GGAACGGCCATGAGCACTGCA 0.607000 15 25 0 0 1 0 0 DENND1C 79958 broad.mit.edu 37 19 6481703 6481703 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:6481703C>T ENST00000381480.2 - 1 116 c.4G>A c.(4-6)Gaa>Aaa p.E2K DENND1C_ENST00000543576.1_5'UTR|DENND1C_ENST00000591030.1_5'UTR NM_024898.2 NP_079174.2 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 2 clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 GCTCTGGATTCCATGGTCCCT 0.677000 15 24 0 0 1 0 0 AGAP2 116986 broad.mit.edu 37 12 58127820 58127820 + Missense_Mutation SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:58127820A>G ENST00000257897.3 - 5 615 c.530T>C c.(529-531)gTg>gCg p.V177A AGAP2_ENST00000547588.1_Missense_Mutation_p.V513A NM_014770.3 NP_055585.1 Q99490 AGAP2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 513 axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 TTGTGTCCCCACCAGTGCCAA 0.582000 9 29 0 0 1 0 0 XRCC2 7516 broad.mit.edu 37 7 152346416 152346416 + Missense_Mutation SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:152346416T>C ENST00000359321.1 - 3 239 c.154A>G c.(154-156)Aca>Gca p.T52A XRCC2_ENST00000495707.1_5'UTR NM_005431.1 NP_005422.1 O43543 XRCC2_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 2 52 meiosis nucleus ATP binding|DNA binding|DNA-dependent ATPase activity NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2) 11 all_hematologic(28;0.0592)|Prostate(32;0.081) OV - Ovarian serous cystadenocarcinoma(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (81;0.0429) GTTTTTCCTGTTCCTTCTGGG 0.363000 Homologous recombination 34 38 0 0 1 0 0 C16orf92 146378 broad.mit.edu 37 16 30035385 30035385 + Missense_Mutation SNP C C A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:30035385C>A ENST00000300575.2 + 3 376 c.355C>A c.(355-357)Ctt>Att p.L119I NM_001109659.1|NM_001109660.1 NP_001103129.1|NP_001103130.1 Q96LL3 CP092_HUMAN chromosome 16 open reading frame 92 119 integral to membrane breast(3)|lung(3) 6 CTTCTTTCTCCTTTTCCAGTT 0.587000 51 87 7.34454e-26 7.43551e-26 1 1 0 NAF1 92345 broad.mit.edu 37 4 164050306 164050306 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:164050306G>A ENST00000274054.2 - 8 1421 c.1228C>T c.(1228-1230)Cct>Tct p.P410S NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron NM_138386.2 NP_612395.2 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 ribonucleoprotein 410 rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2) 21 all_hematologic(180;0.166) Prostate(90;0.109) CTCTGAGAAGGAAATCCTGAA 0.483000 37 29 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9520184 9520184 + Silent SNP G G A rs141553527 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr20:9520184G>A ENST00000378429.3 - 11 2631 c.2085C>T c.(2083-2085)ctC>ctT p.L695L PAK7_ENST00000378423.1_Silent_p.L695L|PAK7_ENST00000353224.5_Silent_p.L695L NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 695 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) ATGGATGTCCGAGGAGTTCCT 0.512000 122 146 0 0 1 0 0 GRAMD3 65983 broad.mit.edu 37 5 125816343 125816343 + Missense_Mutation SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:125816343A>G ENST00000285689.3 + 8 1140 c.679A>G c.(679-681)Aat>Gat p.N227D GRAMD3_ENST00000515200.1_Missense_Mutation_p.N204D|GRAMD3_ENST00000513040.1_Missense_Mutation_p.N242D|RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000502348.1_Missense_Mutation_p.N118D|GRAMD3_ENST00000511134.1_Missense_Mutation_p.N211D|GRAMD3_ENST00000543198.1_Missense_Mutation_p.N204D|GRAMD3_ENST00000544396.1_Missense_Mutation_p.N123D|RP11-517I3.1_ENST00000512500.1_RNA|GRAMD3_ENST00000542322.1_Missense_Mutation_p.N235D NM_023927.2 NP_076416.2 Q96HH9 GRAM3_HUMAN GRAM domain containing 3 227 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Prostate(80;0.0928) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108) TAACAGTCCCAATCCATCTTC 0.388000 24 42 0 0 1 0 0 PHTF1 10745 broad.mit.edu 37 1 114255996 114255996 + Missense_Mutation SNP G G C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:114255996G>C ENST00000369604.1 - 8 1171 c.688C>G c.(688-690)Cat>Gat p.H230D PHTF1_ENST00000393357.2_Missense_Mutation_p.H230D|PHTF1_ENST00000357783.2_Missense_Mutation_p.H230D|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000447664.2_Intron|PHTF1_ENST00000369598.1_Missense_Mutation_p.H185D|PHTF1_ENST00000369600.1_Missense_Mutation_p.H177D|PHTF1_ENST00000369596.2_Missense_Mutation_p.H177D Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 230 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ATGATAGGATGGACACAACTT 0.333000 37 49 0 0 1 0 0 TRIM13 10206 broad.mit.edu 37 13 50586079 50586079 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr13:50586079G>A ENST00000356017.4 + 4 400 c.12G>A c.(10-12)atG>atA p.M4I TRIM13_ENST00000378182.3_Start_Codon_SNP_p.M1I|TRIM13_ENST00000457662.2_Start_Codon_SNP_p.M1I|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000298772.5_Missense_Mutation_p.M4I|TRIM13_ENST00000420995.2_Start_Codon_SNP_p.M1I O60858 TRI13_HUMAN tripartite motif containing 13 1 anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination cytoplasm|endoplasmic reticulum membrane|integral to membrane protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205) AGGATGTGATGGAGCTGCTTG 0.378000 54 126 0 0 1 0 0 INTS4P1 285905 broad.mit.edu 37 7 64601707 64601707 + RNA SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:64601707C>T ENST00000587624.1 + 0 105 ATCGGCATCTCCATTGGCAGC 0.697000 7 7 0 0 1 0 0 PRMT5 10419 broad.mit.edu 37 14 23393690 23393690 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:23393690G>A ENST00000324366.8 - 10 1297 c.1074C>T c.(1072-1074)gtC>gtT p.V358V PRMT5-AS1_ENST00000599580.1_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000397440.4_Silent_p.V187V|PRMT5_ENST00000216350.8_Silent_p.V297V|PRMT5_ENST00000397441.2_Silent_p.V341V|PRMT5_ENST00000538452.1_Silent_p.V252V|PRMT5_ENST00000553897.1_Silent_p.V314V NM_006109.3 NP_006100.2 O14744 ANM5_HUMAN protein arginine methyltransferase 5 358 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 25 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) GCACTCACTGGACATTGGTAT 0.468000 23 58 0 0 1 0 0 SYT5 6861 broad.mit.edu 37 19 55689594 55689594 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:55689594C>T ENST00000354308.3 - 3 591 c.222G>A c.(220-222)gtG>gtA p.V74V SYT5_ENST00000590851.1_Intron|SYT5_ENST00000537500.1_Silent_p.V74V NM_003180.2 NP_003171.2 O00445 SYT5_HUMAN synaptotagmin V 74 energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) CCAGCCCCTTCACTTCCTGAA 0.622000 6 14 0 0 1 0 0 GAPVD1 26130 broad.mit.edu 37 9 128111772 128111772 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr9:128111772C>T ENST00000470056.1 + 18 3352 c.3192C>T c.(3190-3192)caC>caT p.H1064H GAPVD1_ENST00000312123.9_Silent_p.H1070H|GAPVD1_ENST00000394104.2_Silent_p.H1109H|GAPVD1_ENST00000394105.2_Silent_p.H1118H|GAPVD1_ENST00000495955.1_Silent_p.H1109H|GAPVD1_ENST00000297933.6_Silent_p.H1091H|GAPVD1_ENST00000394083.2_Silent_p.H1043H|GAPVD1_ENST00000265956.4_Silent_p.H1083H Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 1109 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 AAGCAGCCCACCCGCAGGATT 0.483000 40 5 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40421497 40421497 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:40421497G>A ENST00000221347.6 - 5 2431 c.2424C>T c.(2422-2424)ctC>ctT p.L808L NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 808 Cys-rich. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGCCCGGAGCGAGCTGGAGAC 0.706000 8 9 0 0 1 0 0 LMOD3 56203 broad.mit.edu 37 3 69171427 69171427 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:69171427C>T ENST00000420581.2 - 1 290 c.111G>A c.(109-111)tcG>tcA p.S37S LMOD3_ENST00000475434.1_Silent_p.S37S|LMOD3_ENST00000489031.1_Silent_p.S37S NM_198271.3 NP_938012.2 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 37 cytoplasm|cytoskeleton tropomyosin binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1) 13 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) CTTCCATTTCCGACTGCAGTT 0.443000 9 15 0 0 1 0 0 OR51A4 401666 broad.mit.edu 37 11 4968024 4968024 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:4968024C>T ENST00000380373.2 - 1 332 c.307G>A c.(307-309)Gaa>Aaa p.E103K MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGAAGAATTCCTGGGCAAAG 0.443000 64 152 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141754666 141754666 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:141754666C>T ENST00000475668.2 + 27 3326 c.3272C>T c.(3271-3273)cCa>cTa p.P1091L MGAM_ENST00000549489.2_Missense_Mutation_p.P1091L O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1091 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AAGAAGAATCCATTTGGGATT 0.488000 53 56 0 0 1 0 0 HNF4G 3174 broad.mit.edu 37 8 76456121 76456121 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:76456121G>A ENST00000396423.2 + 2 288 c.164G>A c.(163-165)aGa>aAa p.R55K HNF4G_ENST00000354370.1_Missense_Mutation_p.R18K NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 18 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) TGTGGGGACAGAGCAACAGGA 0.453000 48 65 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61601727 61601727 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:61601727G>A ENST00000583023.1 + 2 315 c.304G>A c.(304-306)Gat>Aat p.D102N KCNH6_ENST00000580652.1_Missense_Mutation_p.D102N|KCNH6_ENST00000456941.2_Missense_Mutation_p.D102N|KCNH6_ENST00000314672.5_Missense_Mutation_p.D102N|KCNH6_ENST00000581784.1_Missense_Mutation_p.D102N NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 102 PAC. regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) CTACCGCAAGGATGGTGAGGC 0.647000 33 34 0 0 1 0 0 LIN28A 79727 broad.mit.edu 37 1 26737876 26737876 + Splice_Site SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:26737876G>A ENST00000326279.6 + 2 145 c.e2-1 LIN28A_ENST00000254231.4_Splice_Site NM_024674.4 NP_078950.1 Q9H9Z2 LN28A_HUMAN lin-28 homolog A (C. elegans) miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance cytoplasmic mRNA processing body|nucleolus|stress granule DNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2) 8 CCTCTCTCCAGGTGGCTGCGC 0.736000 6 11 0 0 1 0 0 PRAMEF6 440561 broad.mit.edu 37 1 13001267 13001267 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:13001267G>A ENST00000376189.1 - 3 515 c.416C>T c.(415-417)cCa>cTa p.P139L PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000415464.2_Missense_Mutation_p.P139L NM_001010889.2 NP_001010889.1 Q5VXH4 PRAM6_HUMAN PRAME family member 6 139 p.P139Q(1) NS(1)|kidney(1)|lung(5)|urinary_tract(2) 9 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCTCATCCTTGGACAGTCCTG 0.512000 39 759 0 0 1 0 0 PDLIM3 27295 broad.mit.edu 37 4 186456496 186456496 + Splice_Site SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:186456496C>T ENST00000284767.5 - 1 160 c.93_splice c.e1+1 p.R31_splice PDLIM3_ENST00000284771.6_Splice_Site_p.R31_splice|PDLIM3_ENST00000284770.5_Splice_Site_p.R31_splice Q53GG5 PDLI3_HUMAN PDZ and LIM domain 3 31 PDZ. sarcomere zinc ion binding breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171) CGACACCTACCCTGGTGATGA 0.682000 9 12 0 0 1 0 0 CHRDL2 25884 broad.mit.edu 37 11 74414401 74414401 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:74414401G>A ENST00000376332.3 - 8 1391 c.895C>T c.(895-897)Ccc>Tcc p.P299S CHRDL2_ENST00000263671.5_Missense_Mutation_p.P299S|CHRDL2_ENST00000534159.1_5'UTR NM_001278473.1 NP_001265402.1 Q6WN34 CRDL2_HUMAN chordin-like 2 299 VWFC 3. cartilage development|cell differentiation|ossification extracellular region|mitochondrion endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2) 15 Hepatocellular(1;0.098) TGACGGCAGGGGTACTCGGTG 0.657000 26 34 0 0 1 0 0 SRI 6717 broad.mit.edu 37 7 87838680 87838680 + Missense_Mutation SNP C C A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:87838680C>A ENST00000265729.2 - 6 537 c.485G>T c.(484-486)tGc>tTc p.C162F SRI_ENST00000431660.1_Missense_Mutation_p.C147F|SRI_ENST00000490437.1_Missense_Mutation_p.C119F|SRI_ENST00000419179.1_Missense_Mutation_p.C122F|SRI_ENST00000394641.3_Missense_Mutation_p.C147F NM_003130.3 NP_003121.1 P30626 SORCN_HUMAN sorcin 162 EF-hand 4. heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction sarcoplasmic reticulum membrane calcium channel regulator activity|calcium ion binding|receptor binding large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 5 Esophageal squamous(14;0.00202) TTTGACGCAGCAGGCGATGTA 0.443000 33 51 4.34311e-12 4.36842e-12 1 1 0 NYNRIN 57523 broad.mit.edu 37 14 24886501 24886501 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:24886501C>T ENST00000382554.3 + 9 5864 c.5546C>T c.(5545-5547)cCc>cTc p.P1849L NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1849 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 TGGGTGGGTCCCTTCTATATC 0.572000 11 11 0 0 1 0 0 OR7C2 26658 broad.mit.edu 37 19 15052817 15052817 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:15052817G>A ENST00000248072.3 + 1 517 c.517G>A c.(517-519)Gaa>Aaa p.E173K NM_012377.1 NP_036509.1 O60412 OR7C2_HUMAN olfactory receptor, family 7, subfamily C, member 2 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(8)|ovary(2)|skin(2) 15 Ovarian(108;0.203) CACAAATATGGAAATTCCGCA 0.473000 79 115 0 0 1 0 0 LOC728323 728323 broad.mit.edu 37 2 243064452 243064452 + RNA SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:243064452C>T ENST00000456398.1 + 0 571 AGGACAAATTCGAGCATCTTA 0.378000 20 16 0 0 1 0 0 SLC1A7 6512 broad.mit.edu 37 1 53608038 53608038 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:53608038G>A ENST00000371494.4 - 1 211 c.84C>T c.(82-84)atC>atT p.I28I SLC1A7_ENST00000371491.4_Silent_p.I28I NM_006671.4 NP_006662.3 O00341 EAA5_HUMAN solute carrier family 1 (glutamate transporter), member 7 28 integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) GGCAGCCCACGATGACAGACA 0.652000 9 6 0 0 1 0 0 NRXN2 9379 broad.mit.edu 37 11 64375003 64375003 + Missense_Mutation SNP A A T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:64375003A>T ENST00000265459.6 - 23 5265 c.4804T>A c.(4804-4806)Tca>Aca p.S1602T NRXN2_ENST00000377551.1_Missense_Mutation_p.S1602T|NRXN2_ENST00000301894.2_Missense_Mutation_p.S556T|NRXN2_ENST00000409571.1_Missense_Mutation_p.S1595T|NRXN2_ENST00000377559.3_Missense_Mutation_p.S1532T NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 1602 cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 CCGGGGGCTGAGGTCACGCCG 0.751000 3 16 0 0 1 0 0 TULP1 7287 broad.mit.edu 37 6 35479494 35479494 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:35479494C>T ENST00000229771.6 - 4 359 c.280G>A c.(280-282)Gac>Aac p.D94N TULP1_ENST00000322263.4_Intron NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 94 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 GCCTCGGGGTCCCTGAGGAAC 0.731000 4 5 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106899245 106899245 + Splice_Site SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:106899245G>A ENST00000369701.3 + 8 1529 c.e8+1 NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GTTGCCAAAGGTACTGCATGC 0.507000 48 3 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12656048 12656048 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:12656048C>T ENST00000425538.1 + 10 1643 c.1443C>T c.(1441-1443)tcC>tcT p.S481S MYOCD_ENST00000395988.1_Silent_p.S385S|MYOCD_ENST00000343344.4_Silent_p.S481S NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 481 Ser-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CCTCCCCCTCCTTCGGCCTGC 0.632000 46 55 0 0 1 0 0 GTF2E2 2961 broad.mit.edu 37 8 30469831 30469831 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:30469831G>A ENST00000355904.4 - 5 816 c.534C>T c.(532-534)tcC>tcT p.S178S GTF2E2_ENST00000522833.1_5'UTR NM_002095.4 NP_002086.1 P29084 T2EB_HUMAN general transcription factor IIE, polypeptide 2, beta 34kDa 178 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription factor TFIIE complex DNA binding|protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135) CAGCTTTCTGGGAATTGGGCA 0.348000 25 9 0 0 1 0 0 GANAB 23193 broad.mit.edu 37 11 62393590 62393590 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:62393590C>T ENST00000346178.4 - 24 2753 c.2738G>A c.(2737-2739)cGg>cAg p.R913Q GANAB_ENST00000356638.3_Missense_Mutation_p.R891Q|GANAB_ENST00000540933.1_Missense_Mutation_p.R794Q|GANAB_ENST00000534779.1_Missense_Mutation_p.R799Q NM_001278192.1|NM_198335.2 NP_001265121.1|NP_938149.2 Q14697 GANAB_HUMAN glucosidase, alpha; neutral AB 891 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 TATCACCACCCGCTCAATCCA 0.527000 163 214 0 0 1 0 0 TCEAL5 340543 broad.mit.edu 37 X 102529337 102529337 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:102529337C>T ENST00000372680.1 - 3 449 c.155G>A c.(154-156)gGa>gAa p.G52E NM_001012979.2 NP_001012997.1 Q5H9L2 TCAL5_HUMAN transcription elongation factor A (SII)-like 5 52 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 ctctcgctttccctcgcattc 0.522000 68 8 0 0 1 0 0 PRKD3 23683 broad.mit.edu 37 2 37543423 37543423 + Missense_Mutation SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:37543423A>G ENST00000379066.1 - 2 1007 c.245T>C c.(244-246)tTa>tCa p.L82S PRKD3_ENST00000234179.2_Missense_Mutation_p.L82S O94806 KPCD3_HUMAN protein kinase D3 82 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.21) GACAGCAGATAAAGACAGTTC 0.398000 76 74 0 0 1 0 0 MKX 283078 broad.mit.edu 37 10 28030399 28030399 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:28030399G>A ENST00000375790.5 - 3 655 c.223C>T c.(223-225)Cgg>Tgg p.R75W MKX_ENST00000419761.1_Missense_Mutation_p.R75W Q8IYA7 MKX_HUMAN mohawk homeobox 75 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 AGGGCCTGCCGCTTGTGCCTC 0.662000 40 10 0 0 1 0 0 SLC12A4 6560 broad.mit.edu 37 16 67991661 67991661 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:67991661G>A ENST00000422611.2 - 4 573 c.534C>T c.(532-534)acC>acT p.T178T SLC12A4_ENST00000576616.1_Silent_p.T176T|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000537830.2_Silent_p.T170T|SLC12A4_ENST00000316341.3_Silent_p.T176T|SLC12A4_ENST00000572037.1_Silent_p.T128T|SLC12A4_ENST00000338335.3_Silent_p.T176T|SLC12A4_ENST00000541864.2_Silent_p.T145T NM_001145962.1 NP_001139434.1 Q9UP95 S12A4_HUMAN solute carrier family 12 (potassium/chloride transporter), member 4 176 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) CCACACCGTTGGTGGCGATGG 0.637000 19 26 0 0 1 0 0 DDX3X 1654 broad.mit.edu 37 X 41198333 41198333 + Nonsense_Mutation SNP A A T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:41198333A>T ENST00000399959.2 + 3 1003 c.148A>T c.(148-150)Aaa>Taa p.K50* DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Intron|DDX3X_ENST00000441189.2_Nonsense_Mutation_p.K50*|DDX3X_ENST00000542215.1_Nonsense_Mutation_p.K94* NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 50 K -> R (in Ref. 3; AAC51830/AAC51829). interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 AGAAGCTACTAAAGGTAGGTC 0.353000 HNSCC(61;0.18) 36 1 0 0 1 0 0 FAF1 11124 broad.mit.edu 37 1 51061849 51061849 + Nonsense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:51061849G>A ENST00000396153.2 - 9 1235 c.784C>T c.(784-786)Cga>Tga p.R262* FAF1_ENST00000371778.4_Nonsense_Mutation_p.R262*|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000545823.1_Nonsense_Mutation_p.R20* NM_007051.2 NP_008982.1 Q9UNN5 FAF1_HUMAN Fas (TNFRSF6) associated factor 1 262 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity p.0?(1) breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) ACTGTAAGTCGATGGCAGGGA 0.453000 34 19 0 0 1 0 0 ANO7 50636 broad.mit.edu 37 2 242144280 242144280 + Splice_Site SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:242144280G>A ENST00000274979.8 + 10 1155 c.1051_splice c.e10-1 p.G351_splice ANO7_ENST00000402430.3_Splice_Site_p.G350_splice NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 351 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 CTCTCTACAGGGTTTTACACA 0.617000 29 25 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3990781 3990781 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:3990781G>A ENST00000381638.2 - 14 2413 c.2289C>T c.(2287-2289)ttC>ttT p.F763F ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 763 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 CAAGACCCGCGAAGTCCAGAA 0.303000 40 48 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167420055 167420055 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:167420055C>T ENST00000519204.1 + 4 809 c.691C>T c.(691-693)Ctg>Ttg p.L231L TENM2_ENST00000545108.1_Silent_p.L352L|TENM2_ENST00000518659.1_Silent_p.L352L|TENM2_ENST00000403607.2_Silent_p.L185L|TENM2_ENST00000520394.1_Silent_p.L161L teneurin transmembrane protein 2 GCCCCGCCTGCTGCCCAGGAA 0.597000 27 70 0 0 1 0 0 NR5A2 2494 broad.mit.edu 37 1 200017327 200017327 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:200017327G>A ENST00000367362.3 + 5 737 c.491G>A c.(490-492)gGa>gAa p.G164E NR5A2_ENST00000236914.3_Missense_Mutation_p.G118E|NR5A2_ENST00000544748.1_Missense_Mutation_p.G92E NM_001276464.1|NM_205860.1 NP_001263393.1|NP_995582.1 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 164 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) ATGCGTGGAGGAAGGAATAAG 0.483000 47 68 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9075646 9075646 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:9075646G>A ENST00000397910.4 - 3 12003 c.11800C>T c.(11800-11802)Cct>Tct p.P3934S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3935 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GACTCAGAAGGGGCAATTCTC 0.483000 14 29 0 0 1 0 0 SNORD115-42 100033816 broad.mit.edu 37 15 25492538 25492538 + RNA SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr15:25492538T>C ENST00000364273.1 + 0 47 NR_003357.1 AGGTGATGACTTAAAAATCAT 0.498000 151 41 0 0 1 0 0 NKAIN2 154215 broad.mit.edu 37 6 124125348 124125348 + Translation_Start_Site SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:124125348G>A ENST00000368417.1 + 1 63 c.3G>A c.(1-3)atG>atA p.M1I NKAIN2_ENST00000476571.1_3'UTR|NKAIN2_ENST00000368416.1_Start_Codon_SNP_p.M1I|NKAIN2_ENST00000546092.1_Start_Codon_SNP_p.M1I NM_001040214.1 NP_001035304.1 Q5VXU1 NKAI2_HUMAN Na+/K+ transporting ATPase interacting 2 1 integral to membrane|plasma membrane cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2) 19 GBM - Glioblastoma multiforme(226;0.104) CGGAAACCATGGGTTATTGCA 0.532000 22 68 0 0 1 0 0 BTBD11 121551 broad.mit.edu 37 12 108011990 108011990 + Missense_Mutation SNP T T A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:108011990T>A ENST00000280758.5 + 10 2815 c.2287T>A c.(2287-2289)Tcc>Acc p.S763T BTBD11_ENST00000420571.2_Intron|BTBD11_ENST00000490090.2_Missense_Mutation_p.S763T|BTBD11_ENST00000357167.4_Missense_Mutation_p.S300T NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 763 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 TGATATCCTGTCCCTGGAGGA 0.587000 33 23 0 0 1 0 0 SEC14L5 9717 broad.mit.edu 37 16 5064878 5064878 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:5064878G>A ENST00000251170.7 + 16 2178 c.1998G>A c.(1996-1998)ctG>ctA p.L666L RP11-165E7.1_ENST00000588778.1_RNA NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 666 Ser-rich. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 TGTCCAGCCTGGAATCCTGCA 0.637000 30 37 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82579147 82579147 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:82579147G>A ENST00000423517.2 - 6 11094 c.10757C>T c.(10756-10758)cCa>cTa p.P3586L PCLO_ENST00000437081.1_Missense_Mutation_p.P306L|PCLO_ENST00000333891.8_Missense_Mutation_p.P3586L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3517 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GTCTTTGGGTGGAGATGTGGC 0.473000 22 48 0 0 1 0 0 AKAP14 158798 broad.mit.edu 37 X 119037261 119037261 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:119037261G>A ENST00000371431.3 + 3 349 c.75G>A c.(73-75)ccG>ccA p.P25P AKAP14_ENST00000334356.2_Silent_p.P25P|AKAP14_ENST00000371422.1_Silent_p.P25P|AKAP14_ENST00000371423.2_Silent_p.P25P|AKAP14_ENST00000394594.2_Silent_p.P25P|AKAP14_ENST00000371425.4_Silent_p.P25P NM_178813.5 NP_848928.1 Q86UN6 AKA28_HUMAN A kinase (PRKA) anchor protein 14 25 cytoplasm p.P25P(1) endometrium(4)|large_intestine(1)|lung(8) 13 AAACAATGCCGAATACACAAG 0.403000 3 44 0 0 1 0 0 CPXM1 56265 broad.mit.edu 37 20 2777928 2777928 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr20:2777928C>T ENST00000380605.2 - 6 806 c.742G>A c.(742-744)Gtg>Atg p.V248M NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 248 F5/8 type C. cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 AAGCGGGCCACCTGGGGCTCC 0.642000 4 6 0 0 1 0 0 ITGA3 3675 broad.mit.edu 37 17 48153768 48153768 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:48153768C>T ENST00000320031.8 + 13 2083 c.1753C>T c.(1753-1755)Cgg>Tgg p.R585W ITGA3_ENST00000544892.1_3'UTR|ITGA3_ENST00000007722.7_Missense_Mutation_p.R585W NM_002204.2|NM_005501.2 NP_002195.1|NP_005492.1 P26006 ITA3_HUMAN integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) 585 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 CGATCGCCCCCGGCTGGGGCT 0.622000 119 177 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 21592356 21592356 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:21592356C>T ENST00000298925.5 + 19 2264 c.2111C>T c.(2110-2112)cCa>cTa p.P704L NELL1_ENST00000325319.5_Missense_Mutation_p.P619L|NELL1_ENST00000532434.1_Missense_Mutation_p.P629L|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000357134.5_Missense_Mutation_p.P676L Q92832 NELL1_HUMAN NEL-like 1 (chicken) 676 VWFC 4. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 TGCCAGAATCCAAGTGCTGAC 0.438000 63 71 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94344033 94344033 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:94344033G>A ENST00000282020.4 + 10 1717 c.1459G>A c.(1459-1461)Gaa>Aaa p.E487K GRID2_ENST00000510992.1_Missense_Mutation_p.E392K NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 487 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity p.E487Q(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TTTTAACTACGAAATTTACGT 0.418000 31 39 0 0 1 0 0 ELAVL3 1995 broad.mit.edu 37 19 11569355 11569355 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:11569355G>A ENST00000359227.3 - 4 829 c.405C>T c.(403-405)acC>acT p.T135T ELAVL3_ENST00000438662.2_Silent_p.T135T NM_001420.3|NM_032281.2 NP_001411.2|NP_115657.2 Q14576 ELAV3_HUMAN ELAV like neuron-specific RNA binding protein 3 135 RRM 2. cell differentiation|nervous system development AU-rich element binding|nucleotide binding breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 TCTGGCTCATGGTCTTGGGGA 0.607000 58 100 0 0 1 0 0 PABPN1L 390748 broad.mit.edu 37 16 88931527 88931527 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:88931527C>T ENST00000419291.2 - 4 480 c.469G>A c.(469-471)Ggg>Agg p.G157R PABPN1L_ENST00000411789.2_Missense_Mutation_p.G157R|PABPN1L_ENST00000427766.1_Intron|PABPN1L_ENST00000378358.4_Missense_Mutation_p.G157R NM_001080487.2 NP_001073956.2 A6NDY0 EPAB2_HUMAN poly(A) binding protein, nuclear 1-like (cytoplasmic) 157 RRM. cytoplasm nucleotide binding|RNA binding kidney(1) 1 GCGGAGCCCCCGTAGTCCACC 0.637000 5 10 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3426136 3426136 + RNA SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:3426136C>T ENST00000529482.1 + 0 845 AGAAGCATTTCCAGCACATCC 0.607000 40 50 0 0 1 0 0 CLVS2 134829 broad.mit.edu 37 6 123369775 123369775 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:123369775C>T ENST00000275162.4 + 4 1908 c.573C>T c.(571-573)ttC>ttT p.F191F CLVS2_ENST00000368438.1_Silent_p.F45F NM_001010852.2 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 191 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 AGGATAGTTTCCCAGCGCGAT 0.373000 48 53 0 0 1 0 0 TRPS1 7227 broad.mit.edu 37 8 116631994 116631994 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:116631994G>A ENST00000395715.3 - 3 908 c.331C>T c.(331-333)Ccc>Tcc p.P111S TRPS1_ENST00000519674.1_Missense_Mutation_p.P98S|TRPS1_ENST00000520276.1_Missense_Mutation_p.P102S|TRPS1_ENST00000220888.5_Missense_Mutation_p.P98S|TRPS1_ENST00000519076.1_Intron NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 98 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GGAAAGGAGGGAAAGTTTCCT 0.488000 Langer-Giedion syndrome 53 81 0 0 1 0 0 CPEB1 64506 broad.mit.edu 37 15 83226581 83226581 + Nonsense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr15:83226581G>A ENST00000563800.1 - 4 2341 c.616C>T c.(616-618)Cga>Tga p.R206* CPEB1_ENST00000450751.2_Nonsense_Mutation_p.R104*|CPEB1_ENST00000423133.2_Nonsense_Mutation_p.R104*|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Nonsense_Mutation_p.R104*|CPEB1_ENST00000568128.1_Nonsense_Mutation_p.R179*|CPEB1_ENST00000564522.1_Nonsense_Mutation_p.R104*|CPEB1_ENST00000562019.1_Nonsense_Mutation_p.R179*|CPEB1_ENST00000398591.2_Nonsense_Mutation_p.R104*|CPEB1_ENST00000398592.2_Intron|CPEB1_ENST00000261723.6_Nonsense_Mutation_p.R182* Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding protein 1 179 Ser-rich. mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(143;0.229) CTGCTAGATCGAGAGTCCAGG 0.532000 35 56 0 0 1 0 0 KCNH8 131096 broad.mit.edu 37 3 19384153 19384153 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:19384153C>T ENST00000328405.2 + 4 783 c.517C>T c.(517-519)Cac>Tac p.H173Y NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 173 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 AGTCCTTTATCACATCTCTGG 0.448000 29 48 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141113930 141113930 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:141113930C>T ENST00000389484.3 - 75 12482 c.11511G>A c.(11509-11511)atG>atA p.M3837I NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3837 EGF-like 8. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTCTGTTTTTCATGTTTCTCT 0.353000 TSP Lung(27;0.18) 34 43 0 0 1 0 0 CTSW 1521 broad.mit.edu 37 11 65650791 65650791 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:65650791G>A ENST00000528419.1 + 9 920 c.916G>A c.(916-918)Ggg>Agg p.G306R CTSW_ENST00000307886.3_Missense_Mutation_p.G306R P56202 CATW_HUMAN cathepsin W 306 immune response|proteolysis cysteine-type endopeptidase activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5) 9 READ - Rectum adenocarcinoma(159;0.168) GTCAGAGGAGGGGATATGGGC 0.602000 69 116 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21178791 21178791 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:21178791C>T ENST00000377122.4 - 3 637 c.241G>A c.(241-243)Ggt>Agt p.G81S NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.G81S|NEBL_ENST00000377159.4_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 81 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 ATAAAAGCACCGATATTTTTT 0.318000 28 4 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88966266 88966266 + Missense_Mutation SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:88966266T>C ENST00000333190.4 + 4 4579 c.3970T>C c.(3970-3972)Tgc>Cgc p.C1324R NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1324 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TCAAGATTTTTGCCATCATTC 0.393000 HNSCC(36;0.09) 77 77 0 0 1 0 0 MLNR 2862 broad.mit.edu 37 13 49795297 49795297 + Nonsense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr13:49795297G>A ENST00000398307.1 + 1 824 c.824G>A c.(823-825)tGg>tAg p.W275* MLNR_ENST00000218721.1_Nonsense_Mutation_p.W275* O43193 MTLR_HUMAN motilin receptor 275 digestion integral to plasma membrane growth hormone-releasing hormone receptor activity endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1) 14 all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;6.1e-09) CGGGAGCTGTGGAGCAGCCGG 0.711000 7 55 0 0 1 0 0 LOC101929006 101929006 broad.mit.edu 37 6 29231565 29231565 + RNA SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:29231565G>A ENST00000441381.1 + 0 79 GTGAAAAGTTGAAAAGCACAG 0.428000 58 148 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140255991 140255991 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:140255991G>A ENST00000398631.2 + 1 934 c.934G>A c.(934-936)Gag>Aag p.E312K PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGATTTTGAAGAGAATAATGC 0.393000 22 92 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101892298 101892298 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:101892298G>A ENST00000360264.3 + 24 4547 c.4527G>A c.(4525-4527)gaG>gaA p.E1509E CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000556210.1_Silent_p.E1340E|CUX1_ENST00000546411.2_Silent_p.E1396E|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000292535.7_Silent_p.E1498E|CUX1_ENST00000549414.2_Silent_p.E1476E|CUX1_ENST00000550008.2_Silent_p.E1442E|CUX1_ENST00000560541.1_Intron NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 1498 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 CCAGCCGGGAGGAACCTATCG 0.726000 3 9 0 0 1 0 0 FAM90A1 55138 broad.mit.edu 37 12 8374650 8374650 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:8374650C>T ENST00000538603.1 - 7 1721 c.1163G>A c.(1162-1164)gGg>gAg p.G388E FAM90A1_ENST00000307435.6_Missense_Mutation_p.G388E NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 388 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) AGGCTGGGCCCCATCATGGCT 0.647000 8 38 0 0 1 0 0 OR4K15 81127 broad.mit.edu 37 14 20443712 20443712 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:20443712C>T ENST00000305051.5 + 1 110 c.35C>T c.(34-36)cCt>cTt p.P12L NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) TGTTTCTCTCCTATTCAGGTA 0.378000 19 38 0 0 1 0 0 SMG5 23381 broad.mit.edu 37 1 156222768 156222768 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:156222768G>A ENST00000361813.5 - 18 2748 c.2604C>T c.(2602-2604)ctC>ctT p.L868L SMG5_ENST00000368267.4_Intron NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 868 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) GGATGACAGGGAGATGGTGGC 0.572000 11 13 0 0 1 0 0 KDM8 79831 broad.mit.edu 37 16 27221524 27221524 + Missense_Mutation SNP C C T rs34614782 byFrequency TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:27221524C>T ENST00000286096.4 + 2 253 c.80C>T c.(79-81)cCg>cTg p.P27L KDM8_ENST00000380948.2_Missense_Mutation_p.P27L|KDM8_ENST00000568965.1_Missense_Mutation_p.P27L|KDM8_ENST00000441782.2_Missense_Mutation_p.P65L NM_024773.2 NP_079049.2 Q8N371 KDM8_HUMAN lysine (K)-specific demethylase 8 27 G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GCGCTCCTGCCGCACAGTAAA 0.622000 41 55 0 0 1 0 0 LRP10 26020 broad.mit.edu 37 14 23346598 23346598 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:23346598C>T ENST00000359591.4 + 7 2695 c.2004C>T c.(2002-2004)ccC>ccT p.P668P LRP10_ENST00000546834.1_Intron|LRP10_ENST00000470660.1_Intron NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 668 Pro-rich. endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) GCCTGGGGCCCCCAGGACCAA 0.677000 58 46 0 0 1 0 0 EXOC3L4 91828 broad.mit.edu 37 14 103566802 103566802 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:103566802C>T ENST00000380069.3 + 1 322 c.246C>T c.(244-246)tcC>tcT p.S82S NM_001077594.1 NP_001071062.1 Q17RC7 EX3L4_HUMAN exocyst complex component 3-like 4 82 cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1) 10 GCTCCTGCTCCCTGTTCCGGT 0.667000 23 18 0 0 1 0 0 STK19 8859 broad.mit.edu 37 6 31940093 31940093 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:31940093G>A ENST00000375331.2 + 2 401 c.235G>A c.(235-237)Gag>Aag p.E79K STK19_ENST00000375333.2_Missense_Mutation_p.E79K NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 79 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GACGCCCGGGGAGACCGTACG 0.602000 46 92 0 0 1 0 0 CERKL 375298 broad.mit.edu 37 2 182468676 182468676 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:182468676G>A ENST00000410087.3 - 2 469 c.369C>T c.(367-369)ttC>ttT p.F123F CERKL_ENST00000374969.2_Silent_p.F123F|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Silent_p.F123F|CERKL_ENST00000374970.2_Silent_p.F123F|CERKL_ENST00000339098.5_Silent_p.F123F NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 123 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) TCAAGCAGATGAAGAGTGTGA 0.328000 50 20 0 0 1 0 0 NEFH 4744 broad.mit.edu 37 22 29885295 29885295 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr22:29885295G>A ENST00000310624.6 + 4 1699 c.1666G>A c.(1666-1668)Gaa>Aaa p.E556K NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 556 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 TCCAGCAAAGGAAGAGGCAAA 0.572000 154 80 0 0 1 0 0 LPO 4025 broad.mit.edu 37 17 56344924 56344924 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:56344924C>T ENST00000262290.4 + 12 2224 c.1908C>T c.(1906-1908)ttC>ttT p.F636F LPO_ENST00000543544.1_Silent_p.F577F|LPO_ENST00000421678.2_Silent_p.F553F|LPO_ENST00000582328.1_Silent_p.F553F NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 636 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 GCAAGCAGTTCCAGCAGATCC 0.642000 23 21 0 0 1 0 0 TCTE1 202500 broad.mit.edu 37 6 44248076 44248076 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:44248076C>T ENST00000371505.4 - 5 1470 c.1348G>A c.(1348-1350)Gaa>Aaa p.E450K TCTE1_ENST00000371504.1_Missense_Mutation_p.E147K|TCTE1_ENST00000371503.3_Missense_Mutation_p.E147K|TMEM151B_ENST00000438774.2_Intron NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 450 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AAGTCAAATTCCAGGAGGGTC 0.577000 20 77 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32912282 32912282 + Missense_Mutation SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr13:32912282A>G ENST00000544455.1 + 11 4017 c.3790A>G c.(3790-3792)Aaa>Gaa p.K1264E BRCA2_ENST00000380152.3_Missense_Mutation_p.K1264E NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 1264 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) ATCTTCAAGTAAATGTCATGA 0.284000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 21 47 0 0 1 0 0 DGKH 160851 broad.mit.edu 37 13 42763238 42763238 + Missense_Mutation SNP C C T rs147089288 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr13:42763238C>T ENST00000379274.2 + 15 1726 c.1297C>T c.(1297-1299)Cct>Tct p.P433S DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Missense_Mutation_p.P433S|DGKH_ENST00000538674.1_Missense_Mutation_p.P324S|DGKH_ENST00000540693.1_Missense_Mutation_p.P569S|DGKH_ENST00000337343.4_Missense_Mutation_p.P569S|DGKH_ENST00000261491.4_Missense_Mutation_p.P569S Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta 569 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) CCAGGCTGCGCCTGTTCTCCC 0.507000 19 88 0 0 1 0 0 LHB 3972 broad.mit.edu 37 19 49519937 49519937 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:49519937C>T ENST00000221421.2 - 2 49 c.50G>A c.(49-51)gGg>gAg p.G17E NM_000894.2 NP_000885.1 P01229 LSHB_HUMAN luteinizing hormone beta polypeptide 17 cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction extracellular region|soluble fraction hormone activity cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 8 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) Lutropin alfa(DB00044)|Menotropins(DB00032) TGCCCATGCCCCGCCCATGCT 0.652000 43 78 0 0 1 0 0 PUSL1 126789 broad.mit.edu 37 1 1244489 1244489 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:1244489C>T ENST00000379031.5 + 3 236 c.159C>T c.(157-159)tcC>tcT p.S53S PUSL1_ENST00000470520.1_3'UTR NM_153339.1 NP_699170.1 Q8N0Z8 PUSL1_HUMAN pseudouridylate synthase-like 1 53 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding lung(3)|skin(1)|urinary_tract(1) 5 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GGCTGAATTCCGTGGAGCCGG 0.766000 4 2 0 0 1 0 0 ANKH 56172 broad.mit.edu 37 5 14769258 14769258 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:14769258C>T ENST00000284268.6 - 2 469 c.139G>A c.(139-141)Gag>Aag p.E47K NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 47 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 GCCAGCATCTCGACTGCATCC 0.522000 22 5 0 0 1 0 0 EEF1A1 1915 broad.mit.edu 37 6 74229070 74229070 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:74229070C>T ENST00000316292.9 - 2 1305 c.314G>A c.(313-315)gGg>gAg p.G105E EEF1A1_ENST00000491404.1_5'UTR|EEF1A1_ENST00000309268.6_Missense_Mutation_p.G105E|EEF1A1_ENST00000331523.2_Missense_Mutation_p.G105E NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 105 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity p.G105A(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 CTGAGATGTCCCTGTAATCAT 0.398000 OREG0003890 type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 46 57 0 0 1 0 0 SPATA5 166378 broad.mit.edu 37 4 123868494 123868494 + Missense_Mutation SNP G G C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:123868494G>C ENST00000274008.3 + 9 1634 c.1565G>C c.(1564-1566)gGa>gCa p.G522A SPATA5_ENST00000422835.2_3'UTR NM_145207.2 NP_660208.2 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 522 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 ATTGAGATTGGAGTTCCCAAT 0.512000 53 49 0 0 1 0 0 MDGA1 266727 broad.mit.edu 37 6 37622203 37622203 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:37622203G>A ENST00000434837.2 - 6 2007 c.829C>T c.(829-831)Cat>Tat p.H277Y MDGA1_ENST00000505425.1_Missense_Mutation_p.H277Y|MDGA1_ENST00000297153.7_Missense_Mutation_p.H277Y NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 277 Ig-like 3. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 CCAGGCCCATGGGACCACTGC 0.642000 11 36 0 0 1 0 0 MYL2 4633 broad.mit.edu 37 12 111350935 111350935 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:111350935G>A ENST00000228841.8 - 6 414 c.367C>T c.(367-369)Ctg>Ttg p.L123L MYL2_ENST00000548438.1_Silent_p.L109L NM_000432.3 NP_000423.2 P10916 MLRV_HUMAN myosin, light chain 2, regulatory, cardiac, slow 123 EF-hand 2. cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis cytosol|myosin complex|sarcomere actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1) 12 TGCGTGGTCAGCATTTCCCGA 0.597000 70 31 0 0 1 0 0 TAT 6898 broad.mit.edu 37 16 71606214 71606214 + Nonsense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:71606214C>T ENST00000355962.4 - 6 714 c.581G>A c.(580-582)tGg>tAg p.W194* RP11-432I5.1_ENST00000561529.1_RNA NM_000353.2 NP_000344.1 P17735 ATTY_HUMAN tyrosine aminotransferase 194 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3) 29 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) GTCAATTTCCCAAGATTTCTC 0.398000 26 39 0 0 1 0 0 PDYN 5173 broad.mit.edu 37 20 1961530 1961530 + Missense_Mutation SNP A A T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr20:1961530A>T ENST00000217305.2 - 4 429 c.204T>A c.(202-204)ttT>ttA p.F68L RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.F68L|PDYN_ENST00000539905.1_Missense_Mutation_p.F68L NM_001190892.1|NM_001190898.2|NM_024411.4 NP_001177821.1|NP_001177827.1|NP_077722.1 P01213 PDYN_HUMAN prodynorphin 68 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 AGGGGGTGAAAAAAGACAGAA 0.562000 60 61 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132490833 132490833 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:132490833C>T ENST00000333577.4 + 15 3329 c.3220C>T c.(3220-3222)Cgg>Tgg p.R1074W EP400_ENST00000389561.2_Missense_Mutation_p.R1038W|EP400_ENST00000389562.2_Missense_Mutation_p.R1037W|EP400_ENST00000332482.4_Missense_Mutation_p.R1001W|EP400_ENST00000330386.6_Missense_Mutation_p.R1038W Q96L91 EP400_HUMAN E1A binding protein p400 1074 Interactions with RUVBL1 and RUVBL2. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GGGCAGTGCTCGGGTCACAAC 0.552000 10 43 0 0 1 0 0 DOHH 83475 broad.mit.edu 37 19 3492320 3492320 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:3492320G>A ENST00000427575.1 - 4 980 c.529C>T c.(529-531)Cgc>Tgc p.R177C DOHH_ENST00000250937.3_Missense_Mutation_p.R177C NM_001145165.1 NP_001138637.1 Q9BU89 DOHH_HUMAN deoxyhypusine hydroxylase/monooxygenase 177 peptidyl-lysine modification to hypusine|post-translational protein modification cytosol deoxyhypusine monooxygenase activity|metal ion binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) AACATGGCGCGGTATCGCTCG 0.736000 10 6 0 0 1 0 0 ZC3H10 84872 broad.mit.edu 37 12 56514527 56514527 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:56514527C>T ENST00000257940.2 + 3 457 c.181C>T c.(181-183)Cca>Tca p.P61S RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA NM_032786.1 NP_116175.1 Q96K80 ZC3HA_HUMAN zinc finger CCCH-type containing 10 61 nucleic acid binding|zinc ion binding p.P61S(1) breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 11 OV - Ovarian serous cystadenocarcinoma(18;0.12) ATATCGCCACCCAGACATGAG 0.557000 55 40 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245704205 245704205 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:245704205C>T ENST00000366518.4 + 2 264 c.160C>T c.(160-162)Ctg>Ttg p.L54L KIF26B_ENST00000407071.2_Silent_p.L435L Q2KJY2 KI26B_HUMAN kinesin family member 26B 435 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) CCCACCCTGCCTGCTGAGGGC 0.622000 36 46 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 51254847 51254847 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:51254847C>T ENST00000404971.1 - 2 1904 c.565G>A c.(565-567)Gtc>Atc p.V189I NRXN1_ENST00000405581.1_Missense_Mutation_p.V189I|NRXN1_ENST00000406859.3_Missense_Mutation_p.V189I|NRXN1_ENST00000401669.2_Missense_Mutation_p.V189I|NRXN1_ENST00000406316.2_Missense_Mutation_p.V189I|NRXN1_ENST00000402717.3_Missense_Mutation_p.V189I|NRXN1_ENST00000405472.3_Missense_Mutation_p.V189I NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 189 Laminin G-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GAGGAGTTGACCCTCACGTCA 0.721000 4 3 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10130136 10130136 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:10130136C>T ENST00000287647.3 + 35 3563 c.3470C>T c.(3469-3471)tCc>tTc p.S1157F FANCD2_ENST00000419585.1_Missense_Mutation_p.S1157F|FANCD2_ENST00000383807.1_Missense_Mutation_p.S1157F|FANCD2_ENST00000383806.1_Missense_Mutation_p.S1157F|FANCD2OS_ENST00000436517.1_Intron|FANCD2OS_ENST00000524279.1_Intron NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 1157 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) CTAACAGCTTCCCTTGCCAGA 0.423000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 35 49 0 0 1 0 0 PSEN2 5664 broad.mit.edu 37 1 227081808 227081808 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:227081808C>T ENST00000366782.1 + 12 1772 c.1272C>T c.(1270-1272)tgC>tgT p.C424C PSEN2_ENST00000422240.2_Silent_p.C390C|PSEN2_ENST00000391872.2_Silent_p.C424C|PSEN2_ENST00000340188.4_Silent_p.C358C|PSEN2_ENST00000366783.3_Silent_p.C391C|PSEN2_ENST00000471728.1_3'UTR|PSEN2_ENST00000472139.2_Silent_p.C247C P49810 PSN2_HUMAN presenilin 2 (Alzheimer disease 4) 391 amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc aspartic-type endopeptidase activity|protein binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1) 20 Prostate(94;0.0771) CGCTGGCCTGCTTCGTGGCCA 0.657000 25 28 0 0 1 0 0 CDH11 1009 broad.mit.edu 37 16 65032667 65032667 + Silent SNP T T G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:65032667T>G ENST00000394156.3 - 4 774 c.321A>C c.(319-321)tcA>tcC p.S107S CDH11_ENST00000268603.4_Silent_p.S107S|CDH11_ENST00000566827.1_5'UTR P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 107 Cadherin 1. 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) GAATGTTCCCTGATTTGTCAT 0.488000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 22 38 0 0 1 0 0 C7orf63 79846 broad.mit.edu 37 7 89901167 89901167 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:89901167C>T ENST00000389297.4 + 8 1006 c.755C>T c.(754-756)cCc>cTc p.P252L C7orf63_ENST00000316089.8_Missense_Mutation_p.P252L|C7orf63_ENST00000463311.1_Intron|C7orf63_ENST00000497910.1_Missense_Mutation_p.P234L NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN chromosome 7 open reading frame 63 252 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 GACCCAGATCCCTCTGGACAG 0.338000 11 19 0 0 1 0 0 OR10K2 391107 broad.mit.edu 37 1 158390503 158390503 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:158390503C>T ENST00000314902.2 - 1 153 c.154G>A c.(154-156)Gac>Aac p.D52N NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) AGGGCCCTGTCCAGGACAATG 0.502000 57 75 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454410 84454410 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr13:84454410G>A ENST00000377084.2 - 1 2118 c.1233C>T c.(1231-1233)atC>atT p.I411I NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 411 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CTACAGTAGCGATGTTATTGT 0.458000 29 242 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54917697 54917697 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:54917697C>T ENST00000293373.6 + 20 2192 c.2113C>T c.(2113-2115)Cct>Tct p.P705S NCKAP1L_ENST00000545638.2_Missense_Mutation_p.P655S NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 705 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 TACTATCTTCCCTTCTGAGTA 0.443000 18 47 0 0 1 0 0 GRAMD1C 54762 broad.mit.edu 37 3 113634687 113634687 + Splice_Site SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:113634687T>C ENST00000358160.4 + 10 1582 c.e10+2 GRAMD1C_ENST00000479212.1_Splice_Site|GRAMD1C_ENST00000472026.1_Splice_Site|GRAMD1C_ENST00000452134.2_Splice_Site|GRAMD1C_ENST00000440446.2_Splice_Site NM_017577.4 NP_060047.3 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C integral to membrane NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 26 ATATAATAGGTTAGTCCTTGT 0.323000 27 41 0 0 1 0 0 KIR2DL4 3805 broad.mit.edu 37 19 55320288 55320288 + Splice_Site SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:55320288G>A ENST00000396284.2 + 5 650 c.649_splice c.e5-1 p.G217_splice KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000346587.4_Splice_Site_p.G124_splice|KIR2DL4_ENST00000345540.5_Splice_Site_p.G219_splice|KIR2DL4_ENST00000359085.4_Splice_Site_p.G219_splice|KIR2DL4_ENST00000463062.1_Intron|KIR2DL4_ENST00000357494.4_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CGTGTTCTAGGAAACCCTTCT 0.468000 149 15 0 0 1 0 0 OR4A16 81327 broad.mit.edu 37 11 55110948 55110948 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:55110948C>T ENST00000314721.2 + 1 322 c.272C>T c.(271-273)tCc>tTc p.S91F NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 ATCGCTATTTCCTTGTCAGCT 0.438000 113 169 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16150146 16150146 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:16150146C>T ENST00000399408.2 + 12 1846 c.1671C>T c.(1669-1671)ccC>ccT p.P557P ABCC1_ENST00000349029.5_Silent_p.P557P|ABCC1_ENST00000345148.5_Silent_p.P557P|ABCC1_ENST00000399410.3_Silent_p.P557P|ABCC1_ENST00000351154.5_Silent_p.P557P|ABCC1_ENST00000346370.5_Silent_p.P557P P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 557 ABC transmembrane type-1 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TCTGCACGCCCTTTCTGGTGA 0.502000 20 19 0 0 1 0 0 ITFG3 83986 broad.mit.edu 37 16 314957 314957 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:314957G>A ENST00000399932.3 + 13 2046 c.1595G>A c.(1594-1596)gGg>gAg p.G532E ITFG3_ENST00000301678.3_Missense_Mutation_p.G532E|ITFG3_ENST00000301679.2_Intron|ITFG3_ENST00000442458.2_Intron|ITFG3_ENST00000600536.1_Intron|ITFG3_ENST00000450082.2_Intron Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 532 integral to membrane central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) GGTGAGGGTGGGCCAGACAGT 0.667000 25 47 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50211045 50211045 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr15:50211045C>T ENST00000284509.6 - 19 2167 c.2026G>A c.(2026-2028)Gac>Aac p.D676N ATP8B4_ENST00000559829.1_Missense_Mutation_p.D676N NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 676 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CCTTGTTTGTCTCCTGTTAGG 0.333000 44 13 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231106160 231106160 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:231106160G>A ENST00000392045.3 + 4 562 c.448G>A c.(448-450)Gat>Aat p.D150N SP140_ENST00000486687.2_Missense_Mutation_p.D150N|SP140_ENST00000343805.6_Missense_Mutation_p.D150N|SP140_ENST00000417495.3_Missense_Mutation_p.D150N|SP140_ENST00000350136.5_Missense_Mutation_p.D130N|SP140_ENST00000420434.3_Missense_Mutation_p.D150N NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 150 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TAATGTAAACGATTTAGAAGA 0.378000 32 25 0 0 1 0 0 KCNK4 50801 broad.mit.edu 37 11 64064723 64064723 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:64064723G>A ENST00000539216.1 + 3 806 c.446G>A c.(445-447)gGc>gAc p.G149D KCNK4_ENST00000394525.2_Missense_Mutation_p.G149D|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000422670.2_Missense_Mutation_p.G149D|KCNK4_ENST00000538767.1_Missense_Mutation_p.A83T|KCNK4_ENST00000539651.1_3'UTR Q9NYG8 KCNK4_HUMAN potassium channel, subfamily K, member 4 149 integral to membrane potassium channel activity|voltage-gated ion channel activity breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1) 10 CTGCGCCATGGCATCGGTCAC 0.627000 45 42 0 0 1 0 0 TTLL6 284076 broad.mit.edu 37 17 46867382 46867382 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:46867382G>A ENST00000393382.3 - 10 1452 c.1311C>T c.(1309-1311)atC>atT p.I437I TTLL6_ENST00000433608.2_Silent_p.I130I NM_001130918.1 NP_001124390.1 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 389 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 TTTCCAGGTTGATCAGGACTA 0.512000 28 55 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3248173 3248173 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:3248173G>A ENST00000217939.6 - 4 749 c.595C>T c.(595-597)Cct>Tct p.P199S NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 199 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) ATGCTGGCAGGAAGAGTTCTA 0.483000 17 2 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152443716 152443716 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:152443716G>A ENST00000367255.5 - 146 26850 c.26249C>T c.(26248-26250)cCc>cTc p.P8750L SYNE1_ENST00000265368.4_Missense_Mutation_p.P8750L|ESR1_ENST00000544394.1_Intron|SYNE1_ENST00000356820.4_Missense_Mutation_p.P3274L|SYNE1_ENST00000539504.1_Missense_Mutation_p.P905L|SYNE1_ENST00000354674.4_Missense_Mutation_p.P928L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P8702L|SYNE1_ENST00000341594.5_Missense_Mutation_p.P8362L|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.P8702L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8750 KASH. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AAGCTGAAGGGGAAGAGCTGC 0.597000 HNSCC(10;0.0054) 25 52 0 0 1 0 0 PRLR 5618 broad.mit.edu 37 5 35066004 35066004 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:35066004C>T ENST00000382002.5 - 10 1482 c.1056G>A c.(1054-1056)ggG>ggA p.G352G PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Silent_p.G251G|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000342362.5_Silent_p.G251G|PRLR_ENST00000542609.1_Intron NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 352 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TGTCACAGCTCCCCCGGCCTG 0.498000 21 46 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 120387862 120387862 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:120387862G>A ENST00000331113.4 + 6 2808 c.1843G>A c.(1843-1845)Gaa>Aaa p.E615K RP4-797C5.2_ENST00000450480.1_RNA NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 615 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) CGATAGGCCAGAATCCCCTGA 0.423000 25 24 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14852198 14852198 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr18:14852198G>A ENST00000358984.4 + 36 4078 c.3898G>A c.(3898-3900)Gag>Aag p.E1300K NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1385 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 GGAGTCTCTGGAGCAGAAATT 0.353000 8 7 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64607904 64607904 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:64607904G>A ENST00000498707.1 - 18 2998 c.2656C>T c.(2656-2658)Cca>Tca p.P886S ADAMTS9_ENST00000295903.4_Missense_Mutation_p.P858S NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 886 TSP type-1 2. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) GCTTGCCATGGCCCATGACTG 0.373000 34 45 0 0 1 0 0 IFT172 26160 broad.mit.edu 37 2 27693801 27693801 + Silent SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:27693801A>G ENST00000260570.3 - 16 1789 c.1686T>C c.(1684-1686)acT>acC p.T562T NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 562 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) ATACCCTAATAGTGAACATGG 0.488000 26 31 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91714203 91714203 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:91714203C>T ENST00000359028.2 + 35 9018 c.8793C>T c.(8791-8793)ggC>ggT p.G2931G AKAP9_ENST00000358100.2_Intron|AKAP9_ENST00000356239.3_Silent_p.G2927G Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 2931 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CATCAGAAGGCCGAGGAGAAG 0.353000 T BRAF papillary thyroid 74 101 0 0 1 0 0 ST6GALNAC3 256435 broad.mit.edu 37 1 77093151 77093151 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:77093151C>T ENST00000328299.3 + 4 786 c.638C>T c.(637-639)tCa>tTa p.S213L NM_152996.2 NP_694541.2 Q8NDV1 SIA7C_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 213 protein glycosylation integral to Golgi membrane sialyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2) 36 CAGTCTGGCTCATATCTCAGC 0.438000 54 90 0 0 1 0 0 ANKRD12 23253 broad.mit.edu 37 18 9258458 9258458 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr18:9258458C>T ENST00000383440.2 + 8 5381 c.5124C>T c.(5122-5124)atC>atT p.I1708I ANKRD12_ENST00000400020.3_Silent_p.I1708I|ANKRD12_ENST00000262126.3_Silent_p.I1731I NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 1731 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 AAAACCAAATCCCTCAAAGAA 0.338000 20 25 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6719397 6719397 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:6719397G>A ENST00000245907.6 - 2 184 c.92C>T c.(91-93)cCc>cTc p.P31L NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 31 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CAAGATGTTGGGGGTGATGAT 0.617000 30 44 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78369253 78369253 + Nonsense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:78369253C>T ENST00000278550.7 - 34 8622 c.8160G>A c.(8158-8160)tgG>tgA p.W2720* NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 CCCCCTCTGTCCAGGCCCGCA 0.662000 54 66 0 0 1 0 0 TRAV9-2 28677 broad.mit.edu 37 14 22409834 22409834 + RNA SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:22409834C>T ENST00000390441.2 + 0 380 CGGTGTACTTCTGTGCTCTGA 0.537000 30 35 0 0 1 0 0 SEMA3D 223117 broad.mit.edu 37 7 84642162 84642162 + Splice_Site SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:84642162C>T ENST00000284136.6 - 15 1747 c.1703_splice c.e15-1 p.R568_splice SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 568 PSI. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 GTCTAGCTCTCCTGCGGAAAG 0.408000 44 44 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193029693 193029693 + Missense_Mutation SNP C C G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:193029693C>G ENST00000342358.4 - 20 2474 c.2357G>C c.(2356-2358)cGt>cCt p.R786P ATP13A5-AS1_ENST00000414634.1_RNA|ATP13A5_ENST00000495496.1_5'UTR NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 786 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) TCCTTCCCCACGAGGGGTTGA 0.413000 36 42 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8415576 8415576 + Missense_Mutation SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:8415576A>G ENST00000337907.3 - 23 5204 c.4570T>C c.(4570-4572)Tcg>Ccg p.S1524P RERE_ENST00000377464.1_Missense_Mutation_p.S1256P|RERE_ENST00000476556.1_Missense_Mutation_p.S970P|RERE_ENST00000400908.2_Missense_Mutation_p.S1524P|RERE_ENST00000400907.2_Missense_Mutation_p.S542P NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 1524 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) AGCTCGGCCGACTGGGCATGC 0.627000 22 22 0 0 1 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1606189 1606189 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:1606189C>T ENST00000382171.2 - 1 324 c.291G>A c.(289-291)ggG>ggA p.G97G KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 97 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) AGCCACAACCCCCCTTGGATC 0.677000 52 39 0 0 1 0 0 ADH6 130 broad.mit.edu 37 4 100129904 100129904 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:100129904G>A ENST00000394897.1 - 6 831 c.749C>T c.(748-750)cCc>cTc p.P250L ADH6_ENST00000237653.7_Missense_Mutation_p.P250L|ADH6_ENST00000504257.1_5'UTR|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.P41L|ADH6_ENST00000394899.2_Missense_Mutation_p.P250L P28332 ADH6_HUMAN alcohol dehydrogenase 6 (class V) 250 ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2) 20 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) TTCTTGAATGGGTTTCTTTAA 0.438000 193 271 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3432467 3432467 + Splice_Site SNP C C A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:3432467C>A ENST00000602557.1 - 11 1902 c.1347_splice c.e11+1 p.K449_splice CSMD1_ENST00000539096.1_Splice_Site_p.K448_splice|CSMD1_ENST00000537824.1_Splice_Site_p.K448_splice|CSMD1_ENST00000542608.1_Splice_Site_p.K448_splice|CSMD1_ENST00000602723.1_Splice_Site_p.K449_splice|CSMD1_ENST00000400186.3_Splice_Site_p.K449_splice|CSMD1_ENST00000520002.1_Splice_Site_p.K449_splice Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 449 CUB 3. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGAGCCTTACCTTGTCCGGGT 0.522000 52 10 1.59911e-31 1.62103e-31 1 1 0 DGKI 9162 broad.mit.edu 37 7 137206704 137206704 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:137206704G>A ENST00000453654.1 - 21 1795 c.1256C>T c.(1255-1257)tCt>tTt p.S419F DGKI_ENST00000288490.5_Missense_Mutation_p.S719F|DGKI_ENST00000446122.1_Missense_Mutation_p.S719F|DGKI_ENST00000424189.2_Missense_Mutation_p.S740F O75912 DGKI_HUMAN diacylglycerol kinase, iota 719 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 ATCTGGGACAGACTGGGGACT 0.453000 18 20 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38997970 38997970 + Silent SNP C C A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:38997970C>A ENST00000359357.3 + 91 13529 c.13275C>A c.(13273-13275)ctC>ctA p.L4425L DNAH8_ENST00000441566.1_Silent_p.L4389L 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 CCAAGGTACTCTTCACGCAGT 0.517000 OREG0017409 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 68 0.000229342 0.000229637 1 1 0 CLEC16A 23274 broad.mit.edu 37 16 11065064 11065064 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:11065064C>T ENST00000409790.1 + 5 805 c.575C>T c.(574-576)aCc>aTc p.T192I CLEC16A_ENST00000409552.3_Missense_Mutation_p.T192I NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 192 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 GCTGTAAGAACCATAACTTTG 0.433000 OREG0023609 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 20 0 0 1 0 0 HNF4G 3174 broad.mit.edu 37 8 76463644 76463644 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:76463644G>A ENST00000396423.2 + 4 498 c.374G>A c.(373-375)aGa>aAa p.R125K HNF4G_ENST00000354370.1_Missense_Mutation_p.R88K NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 88 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) GAACGTGACAGAATAAGCACC 0.418000 38 45 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 99932104 99932104 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:99932104C>T ENST00000524871.1 + 10 1431 c.1141C>T c.(1141-1143)Cgt>Tgt p.R381C CNTN5_ENST00000528682.1_Missense_Mutation_p.R381C|CNTN5_ENST00000279463.3_Missense_Mutation_p.R381C|CNTN5_ENST00000418526.2_Missense_Mutation_p.R307C|CNTN5_ENST00000527185.1_Missense_Mutation_p.R381C NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 381 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AAATTCCTTTCGTGGACAATT 0.393000 29 40 0 0 1 0 0 NFE2 4778 broad.mit.edu 37 12 54686213 54686213 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:54686213G>A ENST00000540264.2 - 2 1576 c.1067C>T c.(1066-1068)gCc>gTc p.A356V NFE2_ENST00000312156.4_Missense_Mutation_p.A356V|NFE2_ENST00000435572.2_Missense_Mutation_p.A356V|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Missense_Mutation_p.A356V Q16621 NFE2_HUMAN nuclear factor, erythroid 2 356 blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytoplasm|PML body protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2) 16 GGTCCCATCGGCAGCCTGTTG 0.577000 19 60 0 0 1 0 0 CCDC87 55231 broad.mit.edu 37 11 66359170 66359170 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:66359170G>A ENST00000333861.3 - 1 1384 c.1317C>T c.(1315-1317)gtC>gtT p.V439V NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 439 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 CCTGGACCACGACCTCATTTC 0.552000 57 58 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167793728 167793728 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:167793728G>A ENST00000367848.1 - 28 4259 c.3762C>T c.(3760-3762)ctC>ctT p.L1254L ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Silent_p.L1346L|ADCY10_ENST00000545172.1_Silent_p.L1193L Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 1346 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 TGTTCAGAAGGAGACATCTGC 0.468000 112 141 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966399 41966399 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:41966399C>T ENST00000298919.7 + 10 1426 c.1038C>T c.(1036-1038)ctC>ctT p.L346L PDZRN4_ENST00000539469.2_Silent_p.L348L|PDZRN4_ENST00000402685.2_Silent_p.L606L Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 606 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) ATGAGAGCCTCGTATCTGGTG 0.488000 24 24 0 0 1 0 0 FOCAD 54914 broad.mit.edu 37 9 20981651 20981651 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr9:20981651G>A ENST00000380249.1 + 40 4968 c.4604G>A c.(4603-4605)gGg>gAg p.G1535E FOCAD_ENST00000605086.1_Missense_Mutation_p.G971E|FOCAD_ENST00000338382.6_Missense_Mutation_p.G1535E NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 1535 integral to membrane binding GAAGCTACTGGGAAAATTTTT 0.463000 28 6 0 0 1 0 0 CALCR 799 broad.mit.edu 37 7 93101730 93101730 + Missense_Mutation SNP G G A rs138829125 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:93101730G>A ENST00000359558.2 - 7 739 c.440C>T c.(439-441)tCc>tTc p.S147F CALCR_ENST00000421592.1_Missense_Mutation_p.S129F|CALCR_ENST00000394441.1_Missense_Mutation_p.S129F|CALCR_ENST00000360249.4_Missense_Mutation_p.S129F|CALCR_ENST00000426151.1_Missense_Mutation_p.S129F NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 129 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) AGTATAGTTGGACCAGGTTCG 0.338000 42 75 0 0 1 0 0 TRA2A 29896 broad.mit.edu 37 7 23555982 23555982 + Splice_Site SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:23555982C>T ENST00000297071.4 - 3 552 c.336_splice c.e3+1 p.R112_splice TRA2A_ENST00000538367.1_Splice_Site_p.R11_splice|TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000392502.4_Splice_Site_p.R11_splice NM_013293.3 NP_037425.1 Q13595 TRA2A_HUMAN transformer 2 alpha homolog (Drosophila) 112 Arg/Ser-rich (RS1 domain). nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|RNA binding endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 10 AACCACGTACCCTGCTGCCAG 0.433000 21 35 0 0 1 0 0 ABCG4 64137 broad.mit.edu 37 11 119031618 119031618 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:119031618G>A ENST00000307417.3 + 15 2107 c.1743G>A c.(1741-1743)acG>acA p.T581T ABCG4_ENST00000531739.1_Silent_p.T581T|ABCG4_ENST00000449422.2_Silent_p.T581T NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 581 ABC transmembrane type-2. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity p.T581T(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) TGATCCTGACGATCTATGGCA 0.572000 22 23 0 0 1 0 0 TOX 9760 broad.mit.edu 37 8 59851926 59851926 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:59851926G>A ENST00000361421.1 - 3 566 c.346C>T c.(346-348)Cct>Tct p.P116S NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 116 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) GTGATTTCAGGGAGGTCCATG 0.478000 66 56 0 0 1 0 0 MYO10 4651 broad.mit.edu 37 5 16711089 16711089 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:16711089G>A ENST00000513610.1 - 21 2551 c.2097C>T c.(2095-2097)gtC>gtT p.V699V MYO10_ENST00000505695.1_Silent_p.V38V|MYO10_ENST00000274203.9_Silent_p.V56V|MYO10_ENST00000512061.1_5'UTR|MYO10_ENST00000427430.2_Silent_p.V56V|MYO10_ENST00000515803.1_Silent_p.V38V NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 699 Myosin head-like. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 ACTTCCCTCGGACGTCCTCAG 0.557000 15 4 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183600941 183600941 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:183600941C>T ENST00000511685.1 + 8 1572 c.1449C>T c.(1447-1449)atC>atT p.I483I TENM3_ENST00000406950.2_Silent_p.I483I teneurin transmembrane protein 3 CCGGCTTTATCCAGTACTTGG 0.502000 21 32 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107569953 107569953 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:107569953C>T ENST00000393561.1 - 28 4905 c.4721G>A c.(4720-4722)cGa>cAa p.R1574Q LAMB1_ENST00000474380.1_5'UTR|LAMB1_ENST00000222399.6_Missense_Mutation_p.R1550Q P07942 LAMB1_HUMAN laminin, beta 1 1550 Domain I. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCTTTCAACTCGTTCACGTAT 0.418000 43 67 0 0 1 0 0 SETBP1 26040 broad.mit.edu 37 18 42532485 42532485 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr18:42532485G>A ENST00000282030.5 + 4 3476 c.3180G>A c.(3178-3180)atG>atA p.M1060I NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 1060 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CAATGCCTATGATGAACCTTG 0.488000 Schinzel-Giedion syndrome 21 33 0 0 1 0 0 YBX3 8531 broad.mit.edu 37 12 10856714 10856714 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:10856714G>A ENST00000228251.4 - 7 1014 c.814C>T c.(814-816)Cca>Tca p.P272S YBX3_ENST00000279550.7_Missense_Mutation_p.P203S|YBX3_ENST00000546164.1_5'UTR NM_003651.4 NP_003642.3 Y box binding protein 3 GCTCCCTCTGGGACTCCATCC 0.507000 41 31 0 0 1 0 0 CASP10 843 broad.mit.edu 37 2 202082378 202082378 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:202082378G>A ENST00000286186.6 + 10 1918 c.1483G>A c.(1483-1485)Gga>Aga p.G495R CASP10_ENST00000346817.5_Missense_Mutation_p.G452R|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000272879.5_Intron|CASP10_ENST00000313728.7_Missense_Mutation_p.G428R|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000448480.1_Intron NM_032977.3 NP_116759.2 Q92851 CASPA_HUMAN caspase 10, apoptosis-related cysteine peptidase 0 apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 GGACAAACAGGGAACAAAGAA 0.403000 51 109 0 0 1 0 0 MCPH1 79648 broad.mit.edu 37 8 6302682 6302682 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:6302682C>T ENST00000344683.5 + 8 1515 c.1439C>T c.(1438-1440)aCc>aTc p.T480I MCPH1_ENST00000522905.1_Missense_Mutation_p.T432I|MCPH1_ENST00000519480.1_Missense_Mutation_p.T480I NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 480 microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) ACAGCAAAAACCATCTCCAGT 0.443000 34 13 0 0 1 0 0 TBX15 6913 broad.mit.edu 37 1 119474366 119474366 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:119474366C>T ENST00000369429.3 - 2 304 c.295G>A c.(295-297)Gct>Act p.A99T TBX15_ENST00000207157.3_5'UTR Q96SF7 TBX15_HUMAN T-box 15 99 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) GGGCCTGCAGCACCAGAGGCC 0.532000 21 27 0 0 1 0 0 NKAIN3 286183 broad.mit.edu 37 8 63659497 63659497 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:63659497G>A ENST00000523211.1 + 4 412 c.280G>A c.(280-282)Gat>Aat p.D94N NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Missense_Mutation_p.D94N NM_173688.2 NP_775959.1 Q8N8D7 NKAI3_HUMAN Na+/K+ transporting ATPase interacting 3 94 integral to membrane|plasma membrane kidney(3)|large_intestine(2)|lung(8) 13 Breast(64;0.127) Lung NSC(129;0.187) CTAGGACACCGATCTAATGAC 0.448000 45 32 0 0 1 0 0 CACHD1 57685 broad.mit.edu 37 1 65141605 65141605 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:65141605C>T ENST00000371073.2 + 21 2914 c.2914C>T c.(2914-2916)Cct>Tct p.P972S CACHD1_ENST00000290039.5_Missense_Mutation_p.P921S|CACHD1_ENST00000495994.1_3'UTR Q5VU97 CAHD1_HUMAN cache domain containing 1 972 Cys-rich. calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 ATGTGAATGTCCTTGTGAGTG 0.358000 12 22 0 0 1 0 0 JAK1 3716 broad.mit.edu 37 1 65310460 65310460 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:65310460G>A ENST00000342505.4 - 16 2476 c.2228C>T c.(2227-2229)cCc>cTc p.P743L JAK1_ENST00000465376.1_5'UTR NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 743 Protein kinase 1. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) CACCGTAATGGGGATGCCGGG 0.597000 Mis ALL 35 36 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179477716 179477716 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:179477716C>T ENST00000589042.1 - 265 49956 c.49732G>A c.(49732-49734)Gat>Aat p.D16578N TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D14937N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D7638N|TTN_ENST00000342992.6_Missense_Mutation_p.D14010N|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D7513N|TTN_ENST00000342175.6_Missense_Mutation_p.D7705N|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14937 Fibronectin type-III 20. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCACCTCCATCATGTTCTGGT 0.458000 60 35 0 0 1 0 0 TREM1 54210 broad.mit.edu 37 6 41248702 41248702 + Missense_Mutation SNP A A T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:41248702A>T ENST00000591620.1 - 3 622 c.596T>A c.(595-597)aTc>aAc p.I199N TREM1_ENST00000244709.4_Missense_Mutation_p.I199N|TREM1_ENST00000589614.1_Missense_Mutation_p.I199N|TREM1_ENST00000334475.6_Intron NM_001242589.1 NP_001229518.1 Q9NP99 TREM1_HUMAN triggering receptor expressed on myeloid cells 1 199 blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration extracellular region|integral to membrane|intracellular|plasma membrane receptor activity NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) Glutathione(DB00143) ACTATACCTGATGATATCTGT 0.512000 19 43 0 0 1 0 0 CLCA1 1179 broad.mit.edu 37 1 86959202 86959202 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:86959202C>T ENST00000234701.3 + 11 1951 c.1600C>T c.(1600-1602)Ccc>Tcc p.P534S CLCA1_ENST00000394711.1_Missense_Mutation_p.P534S A8K7I4 CLCA1_HUMAN chloride channel accessory 1 534 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) TCTCTGGGATCCCAGTGGACA 0.488000 44 52 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4735308 4735308 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:4735308C>T ENST00000354582.6 + 33 4514 c.4164C>T c.(4162-4164)gtC>gtT p.V1388V ITPR1_ENST00000357086.4_Silent_p.V1379V|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Silent_p.V1364V|ITPR1_ENST00000443694.2_Silent_p.V1373V|ITPR1_ENST00000302640.8_Silent_p.V1373V|ITPR1_ENST00000423119.2_Silent_p.V1379V Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 1388 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) TCCACTTGGTCGAGCTCCTGG 0.552000 35 48 0 0 1 0 0 C1orf177 163747 broad.mit.edu 37 1 55279598 55279598 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:55279598C>T ENST00000358193.3 + 7 928 c.874C>T c.(874-876)Cct>Tct p.P292S C1orf177_ENST00000371273.3_Missense_Mutation_p.P292S NM_152607.2 NP_689820.2 Q3ZCV2 CA177_HUMAN chromosome 1 open reading frame 177 292 breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2) 17 CCCGAAAACCCCTACAGAGAG 0.507000 47 99 0 0 1 0 0 PCOLCE2 26577 broad.mit.edu 37 3 142539803 142539803 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:142539803C>T ENST00000295992.3 - 8 1340 c.1034G>A c.(1033-1035)gGa>gAa p.G345E PCOLCE2_ENST00000485766.1_Silent_p.G265G NM_013363.3 NP_037495.1 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 345 NTR. extracellular region collagen binding|heparin binding|peptidase activator activity p.G345E(1) NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 32 CGCCAAATTTCCCTCTTTGTA 0.507000 24 40 0 0 1 0 0 PODXL2 50512 broad.mit.edu 37 3 127379952 127379952 + Missense_Mutation SNP G G A rs151077692 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:127379952G>A ENST00000342480.6 + 3 1120 c.1081G>A c.(1081-1083)Gaa>Aaa p.E361K NM_015720.2 NP_056535.1 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 361 leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 26 GCAGCTCCTAGAAGGGCAGGC 0.567000 37 35 0 0 1 0 0 STEAP2 261729 broad.mit.edu 37 7 89861844 89861844 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:89861844G>A ENST00000287908.3 + 5 1772 c.1379G>A c.(1378-1380)cGa>cAa p.R460Q STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394622.2_Missense_Mutation_p.R460Q|STEAP2_ENST00000394632.1_Intron|STEAP2_ENST00000394621.2_Missense_Mutation_p.R460Q|STEAP2_ENST00000394626.1_Intron|STEAP2_ENST00000394629.2_Intron NM_001244944.1|NM_152999.3 NP_001231873.1|NP_694544.2 Q8NFT2 STEA2_HUMAN STEAP family member 2, metalloreductase 460 electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 all_hematologic(106;0.112) AAGCTAAAACGAATTAAAAAA 0.398000 21 24 0 0 1 0 0 SPON1 10418 broad.mit.edu 37 11 14284353 14284353 + RNA SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:14284353G>A ENST00000310358.7 + 0 2627 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GATCCAAATGGAGCCTCAGTT 0.537000 17 26 0 0 1 0 0 HEATR6 63897 broad.mit.edu 37 17 58144812 58144812 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:58144812G>A ENST00000184956.6 - 8 1237 c.1221C>T c.(1219-1221)ggC>ggT p.G407G HEATR6_ENST00000585976.1_Silent_p.G407G NM_022070.4 NP_071353.4 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 407 binding NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) TACTCTGCATGCCTCCTTCAG 0.393000 55 58 0 0 1 0 0 GGH 8836 broad.mit.edu 37 8 63936713 63936713 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:63936713G>A ENST00000260118.6 - 6 934 c.532C>T c.(532-534)Cct>Tct p.P178S GGH_ENST00000518113.1_5'UTR NM_003878.2 NP_003869.1 Q92820 GGH_HUMAN gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) 178 Gamma-glutamyl hydrolase. glutamine metabolic process extracellular space|lysosome|melanosome gamma-glutamyl-peptidase activity breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1) 11 Breast(64;0.0716) all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131) Folic Acid(DB00158)|L-Glutamic Acid(DB00142) AACTCAGTAGGAAAATTCTGG 0.353000 33 47 0 0 1 0 0 HPSE2 60495 broad.mit.edu 37 10 100374730 100374730 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:100374730G>A ENST00000370552.3 - 9 1310 c.1251C>T c.(1249-1251)gtC>gtT p.V417V HPSE2_ENST00000404542.1_Silent_p.V305V|HPSE2_ENST00000370546.1_Silent_p.V417V|HPSE2_ENST00000370549.1_Silent_p.V359V NM_021828.4 NP_068600.4 Q8WWQ2 HPSE2_HUMAN heparanase 2 417 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 40 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) GCCGTATCACGACATCAATGC 0.388000 59 11 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109605814 109605814 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:109605814C>T ENST00000338432.7 + 4 1019 c.900C>T c.(898-900)acC>acT p.T300T ACACB_ENST00000377854.5_Silent_p.T300T|ACACB_ENST00000377848.3_Silent_p.T300T O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 300 Biotin carboxylation. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) TGATGGTGACCCCCGAGGACC 0.627000 15 44 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058985 152058985 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:152058985C>T ENST00000368806.1 - 3 1237 c.1173G>A c.(1171-1173)agG>agA p.R391R NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 391 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TCCTCTCTTTCCTTTCATCTC 0.473000 111 127 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77377180 77377180 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr9:77377180C>T ENST00000451710.3 - 26 4644 c.4407G>A c.(4405-4407)aaG>aaA p.K1469K TRPM6_ENST00000449912.2_Silent_p.K1464K|TRPM6_ENST00000376864.4_Silent_p.K1469K|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000360774.1_Silent_p.K1469K|TRPM6_ENST00000361255.3_Silent_p.K1464K|TRPM6_ENST00000376872.3_Intron Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1469 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity p.K1469K(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 GCCACTTTTTCTTGATGCTAA 0.488000 72 6 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48744443 48744443 + Missense_Mutation SNP T T A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:48744443T>A ENST00000314191.2 - 61 8250 c.8194A>T c.(8194-8196)Atg>Ttg p.M2732L PRKDC_ENST00000338368.3_Missense_Mutation_p.M2732L|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2733 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TGGTCCCTCATAAACCGTCTG 0.547000 Non-homologous end-joining 171 217 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157454325 157454325 + Missense_Mutation SNP C C G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:157454325C>G ENST00000346085.5 + 8 2536 c.2535C>G c.(2533-2535)agC>agG p.S845R ARID1B_ENST00000367148.1_Missense_Mutation_p.S832R|ARID1B_ENST00000350026.5_Missense_Mutation_p.S832R|ARID1B_ENST00000275248.4_Missense_Mutation_p.S774R NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 832 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CACAGATGAGCCAGTATGGAC 0.448000 14 30 0 0 1 0 0 SEC63 11231 broad.mit.edu 37 6 108224095 108224095 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:108224095G>A ENST00000369002.4 - 12 1341 c.1162C>T c.(1162-1164)Cct>Tct p.P388S NM_007214.4 NP_009145.1 Q9UGP8 SEC63_HUMAN SEC63 homolog (S. cerevisiae) 388 SEC63 1. protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) TCAATATGAGGGAGCTGCAGA 0.423000 43 87 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201058480 201058480 + Missense_Mutation SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:201058480T>C ENST00000362061.3 - 6 1032 c.806A>G c.(805-807)aAc>aGc p.N269S CACNA1S_ENST00000367338.3_Missense_Mutation_p.N269S NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 269 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GATGCCATGGTTGGGCCCTGG 0.622000 20 28 0 0 1 0 0 ADH4 127 broad.mit.edu 37 4 100047751 100047751 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:100047751C>T ENST00000508393.1 - 9 1334 c.1169G>A c.(1168-1170)gGa>gAa p.G390E ADH4_ENST00000505590.1_Missense_Mutation_p.G390E|ADH4_ENST00000265512.7_Missense_Mutation_p.G371E|ADH4_ENST00000423445.1_Missense_Mutation_p.G390E|RP11-696N14.1_ENST00000500358.2_RNA P08319 ADH4_HUMAN alcohol dehydrogenase 4 (class II), pi polypeptide 371 alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2) 18 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) NADH(DB00157) GTACCTTTTTCCTTGGTTCAT 0.343000 39 50 0 0 1 0 0 KIAA0895L 653319 broad.mit.edu 37 16 67213944 67213944 + Splice_Site SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:67213944C>T ENST00000290881.7 - 3 1496 c.570_splice c.e3+1 p.Q190_splice KIAA0895L_ENST00000561621.1_Splice_Site_p.Q190_splice|KIAA0895L_ENST00000563902.1_Splice_Site_p.Q190_splice|KIAA0895L_ENST00000563831.2_Intron Q68EN5 K895L_HUMAN KIAA0895-like 190 breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1) 17 CTGGACTGACCTGATGGATGA 0.582000 31 47 0 0 1 0 0 RAD51B 5890 broad.mit.edu 37 14 68331730 68331730 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:68331730C>T ENST00000487270.1 + 5 374 c.326C>T c.(325-327)cCa>cTa p.P109L RAD51B_ENST00000488612.1_Missense_Mutation_p.P109L|RAD51B_ENST00000471583.1_Missense_Mutation_p.P109L|RAD51B_ENST00000487861.1_Missense_Mutation_p.P109L|RAD51B_ENST00000390683.3_Missense_Mutation_p.P109L NM_133509.3 NP_598193.2 O15315 RA51B_HUMAN RAD51 paralog B 109 blood coagulation|DNA repair|reciprocal meiotic recombination nucleoplasm ATP binding|DNA binding|DNA-dependent ATPase activity HMGA2/RAD51B(11) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 ATTACAGGTCCACCAGGTTGT 0.313000 Direct reversal of damage 5 8 0 0 1 0 0 RGS8 85397 broad.mit.edu 37 1 182615927 182615927 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:182615927G>A ENST00000483095.2 - 7 743 c.486C>T c.(484-486)ttC>ttT p.F162F RGS8_ENST00000367556.1_Silent_p.F162F|RGS8_ENST00000367557.4_Silent_p.F162F|RGS8_ENST00000258302.4_Silent_p.F180F P57771 RGS8_HUMAN regulator of G-protein signaling 8 162 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 5 TGGACCTCAGGAACCTGGGGT 0.522000 67 85 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94029571 94029571 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:94029571G>A ENST00000297268.6 + 5 667 c.196G>A c.(196-198)Ggt>Agt p.G66S NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 66 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TGGTCCACCTGGTCCTCCTGG 0.502000 HNSCC(75;0.22) 63 47 0 0 1 0 0 MARCH1 55016 broad.mit.edu 37 4 164507036 164507036 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:164507036G>A ENST00000503008.1 - 6 1264 c.288C>T c.(286-288)ccC>ccT p.P96P MARCH1_ENST00000514618.1_Silent_p.P352P|MARCH1_ENST00000274056.7_Silent_p.P96P|MARCH1_ENST00000339875.5_Silent_p.P79P NM_001166373.1 NP_001159845.1 Q8TCQ1 MARH1_HUMAN membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 96 antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TGCAGCGACAGGGTGTGATGA 0.542000 26 49 0 0 1 0 0 FAM13A 10144 broad.mit.edu 37 4 89772259 89772259 + Nonsense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:89772259G>A ENST00000264344.5 - 7 1126 c.919C>T c.(919-921)Cag>Tag p.Q307* FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR NM_014883.3 NP_055698.2 O94988 FA13A_HUMAN family with sequence similarity 13, member A 307 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 AAGCTGAGCTGAGGAATGCCA 0.468000 76 104 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65266269 65266269 + RNA SNP T T G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:65266269T>G ENST00000534336.1 + 0 1037 NR_002819.2 ATGATTTCCATGTTTCTTTTG 0.363000 92 114 0 0 1 0 0 RASSF6 166824 broad.mit.edu 37 4 74459252 74459252 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:74459252C>T ENST00000307439.5 - 4 497 c.203G>A c.(202-204)cGa>cAa p.R68Q RASSF6_ENST00000395777.2_Missense_Mutation_p.R68Q|RASSF6_ENST00000342081.3_Missense_Mutation_p.R100Q|RASSF6_ENST00000335049.5_Missense_Mutation_p.R56Q NM_001270391.1|NM_177532.4 NP_001257320.1|NP_803876.1 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family member 6 100 apoptosis|signal transduction protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2) 17 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) CTGTATAGGTCGTTTTACTCC 0.363000 61 59 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71913605 71913605 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:71913605G>A ENST00000258104.3 + 55 6503 c.6226G>A c.(6226-6228)Gtg>Atg p.V2076M DYSF_ENST00000409744.1_Missense_Mutation_p.V2084M|DYSF_ENST00000409651.1_Missense_Mutation_p.V2108M|DYSF_ENST00000409762.1_Missense_Mutation_p.V2093M|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.V2098M|DYSF_ENST00000413539.2_Missense_Mutation_p.V2107M|DYSF_ENST00000429174.2_Missense_Mutation_p.V2097M|DYSF_ENST00000410041.1_Missense_Mutation_p.V2094M|DYSF_ENST00000409582.3_Missense_Mutation_p.V2114M|DYSF_ENST00000410020.3_Missense_Mutation_p.V2115M|DYSF_ENST00000394120.2_Missense_Mutation_p.V2077M NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 2076 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CATGAAGCTGGTGAAGCCCTT 0.657000 87 121 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110530694 110530694 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:110530694G>A ENST00000378402.5 + 73 12092 c.11988G>A c.(11986-11988)gaG>gaA p.E3996E NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3996 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTGAAATAGAGATTGGAGACC 0.398000 HNSCC(38;0.096) 40 43 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1250322 1250322 + Silent SNP C C A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:1250322C>A ENST00000348261.5 + 7 1118 c.870C>A c.(868-870)atC>atA p.I290I CACNA1H_ENST00000358590.4_Silent_p.I290I|CACNA1H_ENST00000565831.1_Silent_p.I290I NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 290 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) ACCCGTTCATCTGCTCCTCAC 0.652000 11 3 9.70103e-10 9.74495e-10 1 1 0 C11orf88 399949 broad.mit.edu 37 11 111407520 111407520 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:111407520G>A ENST00000332814.6 + 7 559 c.559G>A c.(559-561)Gag>Aag p.E187K C11orf88_ENST00000529167.1_3'UTR|C11orf88_ENST00000375618.4_Missense_Mutation_p.E160K NM_207430.2 NP_997313.2 Q6PI97 CK088_HUMAN chromosome 11 open reading frame 88 160 endometrium(1)|large_intestine(3)|lung(2) 6 GTCAGATAAAGAGGACCAAGA 0.403000 28 39 0 0 1 0 0 KIAA2018 205717 broad.mit.edu 37 3 113379462 113379462 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:113379462G>A ENST00000316407.4 - 7 1477 c.1067C>T c.(1066-1068)cCa>cTa p.P356L KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.P356L NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 356 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 AATGCTCATTGGAGAAGAATC 0.473000 25 47 0 0 1 0 0 SMYD3 64754 broad.mit.edu 37 1 245912889 245912889 + Silent SNP G G A rs139195102 by1000genomes TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:245912889G>A ENST00000490107.1 - 12 1302 c.1086C>T c.(1084-1086)tgC>tgT p.C362C SMYD3_ENST00000388985.4_Silent_p.C421C|SMYD3_ENST00000541742.1_Silent_p.C362C|SMYD3_ENST00000366517.1_5'UTR NM_001167740.1 NP_001161212.1 Q9H7B4 SMYD3_HUMAN SET and MYND domain containing 3 421 cytoplasm|nucleus histone-lysine N-methyltransferase activity|protein binding|zinc ion binding p.C362C(1) breast(3)|large_intestine(5)|lung(8)|skin(1) 17 all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242) all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164) OV - Ovarian serous cystadenocarcinoma(106;0.0129) all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537) TGTTGGCGTCGCATTCTTCTA 0.433000 5 70 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113308503 113308503 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr9:113308503C>T ENST00000401783.2 - 3 1192 c.856G>A c.(856-858)Gac>Aac p.D286N SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.D286N|SVEP1_ENST00000374461.1_Missense_Mutation_p.D263N|SVEP1_ENST00000374469.1_Missense_Mutation_p.D263N NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 286 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TCACAGCAGTCCTTGCCTTCA 0.438000 8 1 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36873570 36873570 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:36873570C>T ENST00000301807.6 - 21 7619 c.5722G>A c.(5722-5724)Gat>Aat p.D1908N TRANK1_ENST00000429976.2_Missense_Mutation_p.D2458N|TRANK1_ENST00000428977.2_Missense_Mutation_p.D1908N NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2458 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 GAGAACACATCCCCAAGCTCC 0.502000 55 74 0 0 1 0 0 PGLYRP3 114771 broad.mit.edu 37 1 153276366 153276366 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:153276366G>A ENST00000290722.1 - 4 548 c.496C>T c.(496-498)Ctg>Ttg p.L166L NM_052891.1 NP_443123.1 Q96LB9 PGRP3_HUMAN peptidoglycan recognition protein 3 166 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 28 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TGAGGGTCCAGGCAGGTCTCT 0.537000 33 48 0 0 1 0 0 DSC2 1824 broad.mit.edu 37 18 28672105 28672105 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr18:28672105C>T ENST00000280904.6 - 3 756 c.313G>A c.(313-315)Gaa>Aaa p.E105K DSC2_ENST00000251081.6_Missense_Mutation_p.E105K NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 105 homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) TTCTTCTTTTCTTGGTTCTCA 0.323000 51 56 0 0 1 0 0 KIAA0226L 80183 broad.mit.edu 37 13 46924403 46924403 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr13:46924403G>A ENST00000429979.1 - 11 2018 c.1414C>T c.(1414-1416)Cct>Tct p.P472S KIAA0226L_ENST00000378787.3_Missense_Mutation_p.P472S|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.P472S|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.P315S|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.P405S|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.P472S|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.P315S|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.P337S NM_025113.2 NP_079389.2 Q9H714 CM018_HUMAN KIAA0226-like 472 NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1) 26 ATTCGGGCAGGGATGCACGAC 0.498000 5 10 0 0 1 0 0 SLC35F3 148641 broad.mit.edu 37 1 234452443 234452443 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:234452443G>A ENST00000366618.3 + 5 1069 c.924G>A c.(922-924)gtG>gtA p.V308V SLC35F3_ENST00000366617.3_Silent_p.V239V NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 239 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) CACTGGTGGTGGCCTCAGCAT 0.602000 91 116 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 96025626 96025626 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:96025626C>T ENST00000260766.3 + 16 4826 c.4192C>T c.(4192-4194)Ctc>Ttc p.L1398F PLCE1_ENST00000371380.2_Missense_Mutation_p.L1398F|PLCE1_ENST00000371385.3_Missense_Mutation_p.L1090F|PLCE1_ENST00000371375.1_Missense_Mutation_p.L1090F NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 1398 PI-PLC X-box. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) GCAGCTACCCCTCTCATACTA 0.413000 39 13 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3141982 3141982 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr18:3141982G>A ENST00000400569.3 - 14 2313 c.1980C>T c.(1978-1980)ccC>ccT p.P660P MYOM1_ENST00000356443.4_Silent_p.P660P|MYOM1_ENST00000261606.7_Silent_p.P660P P52179 MYOM1_HUMAN myomesin 1 660 Fibronectin type-III 2. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GCTGGCCAGGGGGCTTCCAGC 0.498000 44 67 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19486690 19486690 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:19486690G>A ENST00000375267.2 - 39 5495 c.5492C>T c.(5491-5493)gCc>gTc p.A1831V UBR4_ENST00000375254.3_Missense_Mutation_p.A1831V|UBR4_ENST00000375226.2_Missense_Mutation_p.A1831V|UBR4_ENST00000375217.2_Missense_Mutation_p.A1831V Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 1831 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GCTCCCGACGGCTGAAGCTTG 0.517000 32 28 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40727112 40727112 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr20:40727112G>A ENST00000373198.3 - 28 4096 c.3861C>T c.(3859-3861)ttC>ttT p.F1287F PTPRT_ENST00000373190.1_Silent_p.F1264F|PTPRT_ENST00000373187.1_Silent_p.F1265F|PTPRT_ENST00000373201.1_Silent_p.F1255F|PTPRT_ENST00000373184.1_Silent_p.F1275F|PTPRT_ENST00000356100.2_Silent_p.F1274F|PTPRT_ENST00000373193.3_Silent_p.F1268F NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1265 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.F1287F(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) AGTTGTAATCGAACACCAGCC 0.592000 41 53 0 0 1 0 0 SERTAD3 29946 broad.mit.edu 37 19 40947746 40947746 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:40947746G>A ENST00000322354.3 - 2 738 c.242C>T c.(241-243)cCc>cTc p.P81L SERTAD3_ENST00000392028.4_Missense_Mutation_p.P81L NM_203344.2 NP_976219.1 Q9UJW9 SRTD3_HUMAN SERTA domain containing 3 81 negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding kidney(1)|large_intestine(4)|lung(2) 7 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CAGGAAGAGGGGCTCGGGGGG 0.642000 31 28 0 0 1 0 0 BCO2 83875 broad.mit.edu 37 11 112084482 112084482 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:112084482G>A ENST00000357685.5 + 9 1365 c.1230G>A c.(1228-1230)agG>agA p.R410R BCO2_ENST00000438022.1_Silent_p.R376R|BCO2_ENST00000393032.2_Silent_p.R376R|BCO2_ENST00000361053.4_Silent_p.R337R|BCO2_ENST00000531169.1_Silent_p.R376R|BCO2_ENST00000526088.1_Silent_p.R376R|BCO2_ENST00000532593.1_Silent_p.R305R Q9BYV7 BCDO2_HUMAN beta-carotene oxygenase 2 410 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1) 16 TCCCTCGAAGGTTTGTTTTGC 0.413000 87 142 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76528873 76528873 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:76528873C>T ENST00000307431.8 + 15 2529 c.2144C>T c.(2143-2145)tCg>tTg p.S715L CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S667L|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S643L|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S719L|CNTNAP4_ENST00000469589.1_3'UTR NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 716 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding p.S691L(2)|p.S643L(2) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GGAGGTTCTTCGCCTGATCTT 0.423000 52 70 0 0 1 0 0 LRTM1 57408 broad.mit.edu 37 3 54958874 54958874 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:54958874C>T ENST00000273286.5 - 2 538 c.376G>A c.(376-378)Gag>Aag p.E126K CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.E50K|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000288197.5_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 126 integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) AAATCAAGCTCCCTCAGCTGA 0.463000 36 48 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29779929 29779929 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:29779929C>T ENST00000375398.2 - 24 4488 c.4039G>A c.(4039-4041)Gag>Aag p.E1347K SVIL_ENST00000535393.1_Missense_Mutation_p.E261K|SVIL_ENST00000355867.4_Missense_Mutation_p.E1347K|SVIL_ENST00000375400.3_Missense_Mutation_p.E921K|SVIL_ENST00000538146.1_Missense_Mutation_p.E139K O95425 SVIL_HUMAN supervillin 1347 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding p.E1347K(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) CGCTTGTGCTCGGCCACGGAA 0.592000 7 20 0 0 1 0 0 SRL 6345 broad.mit.edu 37 16 4254582 4254582 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:4254582C>T ENST00000399609.3 - 2 127 c.115G>A c.(115-117)Gag>Aag p.E39K SRL_ENST00000537996.1_5'UTR NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 498 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity p.E39K(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 AGGGTCTTCTCGATGTGGGAG 0.572000 34 64 0 0 1 0 0 OR2T12 127064 broad.mit.edu 37 1 248458252 248458252 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:248458252G>A ENST00000317996.1 - 1 628 c.629C>T c.(628-630)tCc>tTc p.S210F NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) CAGGATGAGGGAAAAGGGGAC 0.547000 35 12 0 0 1 0 0 ARID5A 10865 broad.mit.edu 37 2 97217908 97217908 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:97217908C>T ENST00000454558.2 + 7 2616 c.1439C>T c.(1438-1440)gCc>gTc p.A480V ARID5A_ENST00000357485.3_Missense_Mutation_p.A548V Q03989 ARI5A_HUMAN AT rich interactive domain 5A (MRF1-like) 548 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 TCGCCCATGGCCGCTGGCCTG 0.697000 90 141 0 0 1 0 0 HELQ 113510 broad.mit.edu 37 4 84337938 84337938 + Missense_Mutation SNP C C A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:84337938C>A ENST00000295488.3 - 17 3306 c.3144G>T c.(3142-3144)agG>agT p.R1048S HELQ_ENST00000510985.1_Missense_Mutation_p.R981S NM_133636.2 NP_598375.2 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 1048 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 GATCAATTGTCCTTACGAGCA 0.363000 Other identified genes with known or suspected DNA repair function 62 70 6.20203e-27 6.28295e-27 1 1 0 CDH6 1004 broad.mit.edu 37 5 31317546 31317546 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:31317546C>T ENST00000265071.2 + 10 1842 c.1577C>T c.(1576-1578)tCc>tTc p.S526F CDH6_ENST00000514738.1_Missense_Mutation_p.S471F NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 526 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TTTTCGTTTTCCTTGGCCCCT 0.413000 54 37 0 0 1 0 0 LDB2 9079 broad.mit.edu 37 4 16597413 16597413 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:16597413C>T ENST00000502640.1 - 3 469 c.321G>A c.(319-321)tcG>tcA p.S107S LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000441778.2_Silent_p.S107S|LDB2_ENST00000503178.2_5'UTR|LDB2_ENST00000515064.1_Silent_p.S107S|LDB2_ENST00000304523.5_Silent_p.S107S O43679 LDB2_HUMAN LIM domain binding 2 107 LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 ATGACTCTTTCGAGTGTTTGA 0.527000 38 45 0 0 1 0 0 ERAS 3266 broad.mit.edu 37 X 48687974 48687974 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:48687974C>T ENST00000338270.1 + 1 692 c.441C>T c.(439-441)gtC>gtT p.V147V NM_181532.2 NP_853510.1 Q7Z444 RASE_HUMAN ES cell expressed Ras 147 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 14 AGCCCCTTGTCCTCGTGGGCA 0.642000 23 1 0 0 1 0 0 PPFIA1 8500 broad.mit.edu 37 11 70224280 70224280 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:70224280C>T ENST00000253925.7 + 26 3744 c.3529C>T c.(3529-3531)Cca>Tca p.P1177S AP000487.5_ENST00000500185.2_RNA|PPFIA1_ENST00000530548.1_3'UTR|AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.P1177S NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 1177 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) CTCTATGCAGCCAAAGAAGAT 0.478000 36 50 0 0 1 0 0 FMO3 2328 broad.mit.edu 37 1 171083269 171083269 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:171083269C>T ENST00000367755.4 + 7 1061 c.950C>T c.(949-951)aCc>aTc p.T317I FMO3_ENST00000538429.1_Missense_Mutation_p.T254I|FMO3_ENST00000542847.1_Missense_Mutation_p.T297I|FMO3_ENST00000392085.2_Missense_Mutation_p.T317I NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 317 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GAGGATGGGACCATATTTGAG 0.443000 32 35 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95511667 95511667 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:95511667C>T ENST00000297591.5 - 17 4240 c.4165G>A c.(4165-4167)Gac>Aac p.D1389N KIAA1429_ENST00000437199.1_Intron NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1389 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TCTCCTGTGTCCTTACTAAAT 0.318000 16 33 0 0 1 0 0 PPP6R3 55291 broad.mit.edu 37 11 68321647 68321647 + Missense_Mutation SNP T T A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:68321647T>A ENST00000393799.2 + 7 920 c.653T>A c.(652-654)aTt>aAt p.I218N PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000265637.4_Missense_Mutation_p.I218N|PPP6R3_ENST00000529710.1_Missense_Mutation_p.I218N|PPP6R3_ENST00000527403.2_Missense_Mutation_p.I218N|PPP6R3_ENST00000524904.1_Missense_Mutation_p.I218N|PPP6R3_ENST00000524845.1_Missense_Mutation_p.I218N|PPP6R3_ENST00000393800.2_Missense_Mutation_p.I218N|PPP6R3_ENST00000393801.3_Missense_Mutation_p.I218N|PPP6R3_ENST00000265636.5_Missense_Mutation_p.I218N Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 218 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 CTTTGTGAAATTGTTCGCCTG 0.348000 37 36 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 55043454 55043454 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:55043454C>T ENST00000474759.1 + 34 2907 c.2859C>T c.(2857-2859)tcC>tcT p.S953S CACNA2D3_ENST00000415676.2_Silent_p.S953S|CACNA2D3_ENST00000490478.1_Silent_p.S859S|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000288197.5_Silent_p.S953S NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 953 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) GGTGGCACTCCGATATGACAG 0.493000 19 24 0 0 1 0 0 ARL11 115761 broad.mit.edu 37 13 50204683 50204683 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr13:50204683G>A ENST00000282026.1 + 2 435 c.100G>A c.(100-102)Ggc>Agc p.G34S ARL11_ENST00000490932.1_Intron NM_138450.5 NP_612459.1 Q969Q4 ARL11_HUMAN ADP-ribosylation factor-like 11 34 small GTPase mediated signal transduction intracellular GTP binding|protein binding kidney(1)|large_intestine(4)|ovary(1) 6 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169) GBM - Glioblastoma multiforme(99;1.67e-09) CAAGCTGAAGGGCCACCAGCT 0.602000 50 86 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92600370 92600370 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:92600370C>T ENST00000298047.6 + 21 12139 c.12122C>T c.(12121-12123)tCg>tTg p.S4041L FAT3_ENST00000525166.1_Missense_Mutation_p.S3891L|FAT3_ENST00000409404.2_Missense_Mutation_p.S4041L|FAT3_ENST00000533797.1_Missense_Mutation_p.S376L Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4041 EGF-like 2. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GGCCTGCCATCGGGGGGTGAG 0.672000 TCGA Ovarian(4;0.039) 3 7 0 0 1 0 0 CCDC30 728621 broad.mit.edu 37 1 43047117 43047117 + Silent SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:43047117A>G ENST00000428554.2 + 15 2295 c.1152A>G c.(1150-1152)gaA>gaG p.E384E CCDC30_ENST00000340612.4_Silent_p.E384E|CCDC30_ENST00000390640.4_Silent_p.E173E|CCDC30_ENST00000342022.4_Silent_p.E384E|CCDC30_ENST00000507855.1_Silent_p.E173E Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 384 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 AGCTAGAGGAAAAGATAAAAG 0.383000 29 42 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68992704 68992704 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:68992704G>A ENST00000288368.4 + 16 1946 c.1669G>A c.(1669-1671)Gaa>Aaa p.E557K PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 557 DEP 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 ATTCAAAGATGAACCCCTACT 0.328000 35 61 0 0 1 0 0 PPIC 5480 broad.mit.edu 37 5 122361498 122361498 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:122361498C>T ENST00000306442.4 - 4 606 c.491G>A c.(490-492)gGa>gAa p.G164E NM_000943.4 NP_000934.1 P45877 PPIC_HUMAN peptidylprolyl isomerase C (cyclophilin C) 164 PPIase cyclophilin-type. protein folding|signal transduction cytoplasm cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 6 all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505) L-Proline(DB00172) AATGACTTTTCCAAACACCAC 0.393000 31 26 0 0 1 0 0 HRG 3273 broad.mit.edu 37 3 186395101 186395101 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:186395101G>A ENST00000232003.4 + 7 1087 c.1007G>A c.(1006-1008)gGg>gAg p.G336E NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 336 fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) GGCACAAATGGGGCCCAAAGA 0.498000 31 50 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32513747 32513747 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr21:32513747G>A ENST00000286827.3 - 22 4022 c.3551C>T c.(3550-3552)tCg>tTg p.S1184L TIAM1_ENST00000541036.1_Missense_Mutation_p.S1124L NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1184 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 GATGAGGTACGACTCCAGCGT 0.567000 94 24 0 0 1 0 0 ATG2A 23130 broad.mit.edu 37 11 64673805 64673805 + Splice_Site SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:64673805C>T ENST00000421419.2 - 21 3298 c.e21+1 ATG2A_ENST00000377264.3_Splice_Site Q2TAZ0 ATG2A_HUMAN autophagy related 2A protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 CAAGCCCATACCTTCACATTC 0.697000 43 72 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150324824 150324824 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:150324824C>T ENST00000328902.5 - 3 1078 c.862G>A c.(862-864)Ggg>Agg p.G288R GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 288 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCAGCCTTCCCCAGCAGGCAT 0.587000 51 60 0 0 1 0 0 PDGFRB 5159 broad.mit.edu 37 5 149501461 149501461 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:149501461C>T ENST00000261799.4 - 16 2795 c.2326G>A c.(2326-2328)Gat>Aat p.D776N NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 776 Protein kinase. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) ACGTAGTTATCGTAAGGGGCC 0.517000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 25 65 0 0 1 0 0 SHQ1 55164 broad.mit.edu 37 3 72799677 72799677 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:72799677C>T ENST00000325599.8 - 11 1631 c.1492G>A c.(1492-1494)Gaa>Aaa p.E498K SHQ1_ENST00000468371.1_5'UTR|SHQ1_ENST00000463369.1_Missense_Mutation_p.E470K NM_018130.2 NP_060600.2 Q6PI26 SHQ1_HUMAN SHQ1, H/ACA ribonucleoprotein assembly factor 498 ribonucleoprotein complex assembly cytosol|nucleoplasm protein binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213) GCACTGCTTTCTTCAAGAAAG 0.478000 56 78 0 0 1 0 0 SLC26A3 1811 broad.mit.edu 37 7 107415299 107415299 + Nonsense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:107415299G>A ENST00000340010.5 - 16 1880 c.1696C>T c.(1696-1698)Cga>Tga p.R566* SLC26A3_ENST00000422236.2_Nonsense_Mutation_p.R531* NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 566 STAS. excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 CGTAGAATTCGAAGTGGACTA 0.398000 46 69 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29599894 29599894 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr13:29599894C>T ENST00000431530.3 + 1 1147 c.1089C>T c.(1087-1089)caC>caT p.H363H NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 353 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GGGAAGCACACCCGGAAGCCA 0.567000 41 10 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85707259 85707259 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:85707259G>A ENST00000322366.6 - 24 4342 c.3935C>T c.(3934-3936)tCc>tTc p.S1312F WDFY3_ENST00000295888.4_Missense_Mutation_p.S1312F Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1312 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TGACACAGGGGATGGCACCAC 0.388000 46 47 0 0 1 0 0 GGT1 2678 broad.mit.edu 37 22 25023485 25023485 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr22:25023485C>T ENST00000400382.1 + 12 1862 c.1107C>T c.(1105-1107)taC>taT p.Y369Y GGT1_ENST00000406383.2_Silent_p.Y369Y|GGT1_ENST00000404920.1_Silent_p.Y25Y|GGT1_ENST00000403838.1_Silent_p.Y25Y|GGT1_ENST00000401885.1_Silent_p.Y25Y|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400383.1_Silent_p.Y369Y|GGT1_ENST00000404532.1_Silent_p.Y25Y|GGT1_ENST00000248923.4_Silent_p.Y369Y|GGT1_ENST00000400380.1_Silent_p.Y369Y|GGT1_ENST00000404223.1_Silent_p.Y25Y P19440 GGT1_HUMAN gamma-glutamyltransferase 1 369 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) TCTCCTACTACAAGCCCGAGT 0.627000 40 56 0 0 1 0 0 EFHB 151651 broad.mit.edu 37 3 19924107 19924107 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:19924107G>A ENST00000295824.9 - 12 2424 c.2263C>T c.(2263-2265)Cct>Tct p.P755S EFHB_ENST00000344838.4_Missense_Mutation_p.P625S NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 755 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 AAAATGGTAGGATATAGTAGT 0.393000 9 15 0 0 1 0 0 SHROOM4 57477 broad.mit.edu 37 X 50350844 50350844 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:50350844G>A ENST00000376020.2 - 6 3323 c.3298C>T c.(3298-3300)Cct>Tct p.P1100S SHROOM4_ENST00000289292.7_Missense_Mutation_p.P1100S|SHROOM4_ENST00000460112.3_Missense_Mutation_p.P984S NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1100 Poly-Pro. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) CGAGGAGGAGGAAAGGCCTTC 0.602000 34 4 0 0 1 0 0 OR6B3 150681 broad.mit.edu 37 2 240984558 240984558 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:240984558G>A ENST00000319423.4 - 1 931 c.932C>T c.(931-933)gCc>gTc p.A311V NM_173351.1 NP_775486.1 Q8NGW1 OR6B3_HUMAN olfactory receptor, family 6, subfamily B, member 3 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1) 18 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) CCCCTCTACGGCGCAGCTCGT 0.468000 172 90 0 0 1 0 0 PLS1 5357 broad.mit.edu 37 3 142413348 142413348 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:142413348G>A ENST00000337777.3 + 11 1428 c.1215G>A c.(1213-1215)atG>atA p.M405I PLS1_ENST00000497002.1_Missense_Mutation_p.M405I|PLS1_ENST00000457734.2_Missense_Mutation_p.M405I NM_002670.2 NP_002661.2 Q14651 PLSI_HUMAN plastin 1 405 Actin-binding 2.|CH 3. cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 27 GGAACTGGATGAATTCCTTGG 0.393000 29 51 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23825131 23825131 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:23825131G>A ENST00000354639.3 + 18 2578 c.2114G>A c.(2113-2115)cGa>cAa p.R705Q STK31_ENST00000428484.1_Missense_Mutation_p.R705Q|STK31_ENST00000433467.2_Missense_Mutation_p.R728Q|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.R728Q NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 728 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 AGCTTGGAACGAGATCTTCTT 0.403000 66 76 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80735823 80735823 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:80735823G>A ENST00000458043.2 + 43 5125 c.5119G>A c.(5119-5121)Gaa>Aaa p.E1707K OTOGL_ENST00000547103.1_Missense_Mutation_p.E1695K NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TGAGAGCTGGGAAATTGAGAA 0.333000 10 8 0 0 1 0 0 ENO1 2023 broad.mit.edu 37 1 8926471 8926471 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:8926471G>A ENST00000234590.4 - 7 653 c.534C>T c.(532-534)ttC>ttT p.F178F NM_001428.3 NP_001419.1 P06733 ENOA_HUMAN enolase 1, (alpha) 178 Required for repression of c-myc promoter activity. gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus phosphopyruvate hydratase complex|plasma membrane|sarcomere DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.F178F(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 10 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) TGGCTTCCCTGAAGTTTGCTG 0.527000 80 92 0 0 1 0 0 RPL13AP3 645683 broad.mit.edu 37 14 56233096 56233096 + RNA SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:56233096C>T ENST00000554458.1 + 0 75 RPL13AP3_ENST00000494676.1_RNA CAACCCTTTTCGAAGCGCCTA 0.572000 16 3 0 0 1 0 0 OR4K17 390436 broad.mit.edu 37 14 20586059 20586059 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:20586059C>T ENST00000315543.4 + 1 494 c.494C>T c.(493-495)aCc>aTc p.T165I NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 137 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) CACTACATGACCATCATGAAC 0.453000 52 33 0 0 1 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27766345 27766345 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:27766345G>A ENST00000451261.2 + 5 1732 c.1333G>A c.(1333-1335)Gat>Aat p.D445N NM_001136533.1 NP_001130005.1 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 CAATGATGACGATATTTACCT 0.423000 28 5 0 0 1 0 0 MYCN 4613 broad.mit.edu 37 2 16085834 16085834 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:16085834C>T ENST00000281043.3 + 3 1307 c.1010C>T c.(1009-1011)cCc>cTc p.P337L NM_005378.4 NP_005369.2 P04198 MYCN_HUMAN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog 337 regulation of transcription from RNA polymerase II promoter chromatin|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 31 all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(3;0.000332) GCCCCCTCTCCCTACGTGGAG 0.602000 A neuroblastoma 22 35 0 0 1 0 0 CDC7 8317 broad.mit.edu 37 1 91979528 91979528 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:91979528C>T ENST00000428239.1 + 8 1105 c.846C>T c.(844-846)gtC>gtT p.V282V CDC7_ENST00000234626.6_Silent_p.V282V|CDC7_ENST00000430031.2_Silent_p.V254V NM_001134420.1 NP_001127892.1 O00311 CDC7_HUMAN cell division cycle 7 282 Protein kinase. cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2) 23 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) GCCTTTCTGTCCAGCGCTCTG 0.388000 25 40 0 0 1 0 0 NRSN1 140767 broad.mit.edu 37 6 24145856 24145856 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:24145856C>T ENST00000378491.4 + 4 571 c.270C>T c.(268-270)atC>atT p.I90I NM_080723.4 NP_542454.3 Q8IZ57 NRSN1_HUMAN neurensin 1 90 nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 22 CCCCCAAAATCGAAGCATTTG 0.488000 54 76 0 0 1 0 0 DEF6 50619 broad.mit.edu 37 6 35280512 35280512 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:35280512G>A ENST00000316637.5 + 5 775 c.770G>A c.(769-771)aGg>aAg p.R257K DEF6_ENST00000542066.1_Intron NM_022047.3 NP_071330.3 Q9H4E7 DEFI6_HUMAN differentially expressed in FDCP 6 homolog (mouse) 257 PH. cytoplasm|nucleus|plasma membrane cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 15 AAAGAGAAAAGGGGCATTATC 0.602000 3 26 0 0 1 0 0 FSCN3 29999 broad.mit.edu 37 7 127239446 127239446 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:127239446G>A ENST00000265825.5 + 5 1351 c.1132G>A c.(1132-1134)Gaa>Aaa p.E378K FSCN3_ENST00000420086.2_Missense_Mutation_p.E244K NM_020369.2 NP_065102.1 Q9NQT6 FSCN3_HUMAN fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) 378 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 CCCAAATGAGGAATTTGGGAT 0.498000 43 61 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106116852 106116852 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:106116852C>T ENST00000357242.5 + 21 3194 c.3020C>T c.(3019-3021)cCt>cTt p.P1007L TBC1D8B_ENST00000276175.3_Missense_Mutation_p.P1001L NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 1007 intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CATGAGGACCCTGAAGAAGAA 0.373000 45 1 0 0 1 0 0 ICK 22858 broad.mit.edu 37 6 52876952 52876952 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:52876952G>A ENST00000356971.3 - 11 1715 c.1226C>T c.(1225-1227)tCc>tTc p.S409F ICK_ENST00000350082.5_Missense_Mutation_p.S409F NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 409 intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) TGTTGACCTGGAAATAAGACC 0.453000 35 48 0 0 1 0 0 TRAV2 28691 broad.mit.edu 37 14 22180973 22180973 + RNA SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:22180973G>A ENST00000390424.2 + 0 255 CAGCAGGGACGATACAACATG 0.512000 38 101 0 0 1 0 0 C14orf105 55195 broad.mit.edu 37 14 57949829 57949829 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:57949829C>T ENST00000216445.3 - 3 483 c.347G>A c.(346-348)gGa>gAa p.G116E C14orf105_ENST00000422976.2_Missense_Mutation_p.G116E|C14orf105_ENST00000534126.1_Missense_Mutation_p.G116E|C14orf105_ENST00000526336.1_3'UTR NM_018168.2 NP_060638.2 Q9NVL8 CN105_HUMAN chromosome 14 open reading frame 105 116 breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1) 11 CAGGAGTCTTCCTGAAGTAAT 0.502000 37 4 0 0 1 0 0 LARS2 23395 broad.mit.edu 37 3 45557692 45557692 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:45557692G>A ENST00000415258.1 + 16 2109 c.1968G>A c.(1966-1968)caG>caA p.Q656Q LARS2_ENST00000467936.1_3'UTR|LARS2_ENST00000414984.1_Silent_p.Q613Q|LARS2_ENST00000265537.3_Silent_p.Q656Q Q15031 SYLM_HUMAN leucyl-tRNA synthetase 2, mitochondrial 656 leucyl-tRNA aminoacylation mitochondrial matrix ATP binding|leucine-tRNA ligase activity endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372) L-Leucine(DB00149) TTGTGGAGCAGTATGGGATCG 0.483000 50 59 0 0 1 0 0 GPR39 2863 broad.mit.edu 37 2 133402744 133402744 + Silent SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:133402744A>G ENST00000329321.3 + 2 1396 c.927A>G c.(925-927)aaA>aaG p.K309K LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 309 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CTGCGGCCAAACCCAAGCACG 0.582000 40 41 0 0 1 0 0 DUXA 503835 broad.mit.edu 37 19 57670611 57670611 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:57670611G>A ENST00000554048.2 - 3 215 c.216C>T c.(214-216)ttC>ttT p.F72F NM_001012729.1 NP_001012747.1 A6NLW8 DUXA_HUMAN double homeobox A 72 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) GTCTTTTCTGGAATCCGTGCC 0.418000 49 65 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91804391 91804391 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:91804391C>T ENST00000389857.6 - 10 1094 c.1008G>A c.(1006-1008)aaG>aaA p.K336K NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 336 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) GCAGCTTCTCCTTGCAGCGGG 0.632000 30 29 0 0 1 0 0 GRIK1 2897 broad.mit.edu 37 21 31023498 31023498 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr21:31023498G>A ENST00000399914.1 - 6 1415 c.894C>T c.(892-894)tcC>tcT p.S298S GRIK1_ENST00000389125.3_Silent_p.S298S|GRIK1_ENST00000399907.1_Silent_p.S298S|GRIK1_ENST00000389124.2_Silent_p.S298S|GRIK1_ENST00000399913.1_Silent_p.S298S|GRIK1_ENST00000309434.7_Silent_p.S298S|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000535441.1_Silent_p.S298S|GRIK1_ENST00000327783.4_Silent_p.S298S|GRIK1_ENST00000399909.1_Silent_p.S298S P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 298 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) GTCTCTCCATGGACCACTTCT 0.468000 68 8 0 0 1 0 0 MROH9 80133 broad.mit.edu 37 1 170965688 170965688 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:170965688G>A ENST00000367759.4 + 14 1532 c.1378G>A c.(1378-1380)Gga>Aga p.G460R MROH9_ENST00000367758.3_Missense_Mutation_p.G460R NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 GAATTGTTCTGGACTGCAACA 0.413000 39 74 0 0 1 0 0 KIAA1377 57562 broad.mit.edu 37 11 101818765 101818765 + Missense_Mutation SNP C C G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:101818765C>G ENST00000263468.8 + 4 668 c.398C>G c.(397-399)tCc>tGc p.S133C NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 133 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) TCTTTAGTTTCCCGAAAACCA 0.333000 27 33 0 0 1 0 0 OR4K15 81127 broad.mit.edu 37 14 20443711 20443711 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:20443711C>T ENST00000305051.5 + 1 109 c.34C>T c.(34-36)Cct>Tct p.P12S NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) CTGTTTCTCTCCTATTCAGGT 0.378000 19 38 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212495235 212495235 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:212495235C>T ENST00000342788.4 - 17 2341 c.2031G>A c.(2029-2031)agG>agA p.R677R ERBB4_ENST00000402597.1_Silent_p.R667R|ERBB4_ENST00000436443.1_Silent_p.R677R NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 677 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TGATGCTCTTCCTTCTAACAT 0.418000 TSP Lung(8;0.080) 91 56 0 0 1 0 0 SLC9A5 6553 broad.mit.edu 37 16 67289320 67289320 + Missense_Mutation SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:67289320T>C ENST00000299798.11 + 4 744 c.679T>C c.(679-681)Ttt>Ctt p.F227L SLC9A5_ENST00000561472.2_3'UTR NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 227 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CTGCAACTCCTTTGTGGAGAT 0.597000 63 68 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30680705 30680705 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:30680705G>A ENST00000376406.3 - 5 1661 c.1014C>T c.(1012-1014)atC>atT p.I338I MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.I338I NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 338 Required for nuclear localization (NLS1). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 GGGTTGCTGGGATCCTCTCTT 0.552000 Other conserved DNA damage response genes 67 87 0 0 1 0 0 JPH4 84502 broad.mit.edu 37 14 24040407 24040407 + Silent SNP G G C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:24040407G>C ENST00000397118.3 - 6 2435 c.1533C>G c.(1531-1533)ggC>ggG p.G511G JPH4_ENST00000544177.1_Silent_p.G176G|JPH4_ENST00000356300.4_Silent_p.G511G NM_032452.2 NP_115828.2 Q96JJ6 JPH4_HUMAN junctophilin 4 511 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) CAGCCTCATAGCCAGCTAGTT 0.657000 160 103 0 0 1 0 0 OR10S1 219873 broad.mit.edu 37 11 123848276 123848276 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:123848276G>A ENST00000531945.1 - 1 212 c.123C>T c.(121-123)ttC>ttT p.F41F NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GGAAGAGGAGGAAGAAGAGGC 0.517000 30 26 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227895221 227895221 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:227895221C>T ENST00000396625.3 - 41 4118 c.3911G>A c.(3910-3912)gGc>gAc p.G1304D COL4A4_ENST00000329662.7_Missense_Mutation_p.G1304D NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1304 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GCCTGGTGGGCCAGGGGGACC 0.552000 25 113 0 0 1 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27766047 27766047 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:27766047C>T ENST00000451261.2 + 5 1434 c.1035C>T c.(1033-1035)acC>acT p.T345T NM_001136533.1 NP_001130005.1 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 TTGTCTTCACCATTGACCTCA 0.478000 19 5 0 0 1 0 0 PRRT3 285368 broad.mit.edu 37 3 9991428 9991428 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:9991428G>A ENST00000412055.1 - 2 501 c.372C>T c.(370-372)tcC>tcT p.S124S PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Silent_p.S124S NM_207351.3 NP_997234.3 Q5FWE3 PRRT3_HUMAN proline-rich transmembrane protein 3 124 integral to membrane NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2) 13 TCCAGCCGTGGGAGCTTGGTC 0.592000 51 76 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179650466 179650466 + Missense_Mutation SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:179650466T>C ENST00000589042.1 - 15 2598 c.2374A>G c.(2374-2376)Aag>Gag p.K792E TTN_ENST00000591111.1_Missense_Mutation_p.K792E|TTN_ENST00000359218.5_Missense_Mutation_p.K746E|TTN_ENST00000342992.6_Missense_Mutation_p.K792E|TTN_ENST00000460472.2_Missense_Mutation_p.K746E|TTN_ENST00000342175.6_Missense_Mutation_p.K746E|TTN_ENST00000360870.5_Missense_Mutation_p.K792E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 792 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTAGTTTTCTTGATCTGCATT 0.413000 67 46 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072794 17072794 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr22:17072794G>A ENST00000359963.3 - 1 906 c.647C>T c.(646-648)tCc>tTc p.S216F NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 216 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GAGGAGGCAGGAATCCTCCAG 0.612000 140 67 0 0 1 0 0 GPR180 160897 broad.mit.edu 37 13 95264488 95264488 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr13:95264488C>T ENST00000376958.4 + 3 374 c.349C>T c.(349-351)Ccg>Tcg p.P117S NM_180989.5 NP_851320.1 Q86V85 GP180_HUMAN G protein-coupled receptor 180 117 integral to membrane breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 10 all_neural(89;0.0684)|Medulloblastoma(90;0.163) GTCCCAGATTCCGTCTCCACA 0.393000 85 130 0 0 1 0 0 F2 2147 broad.mit.edu 37 11 46747708 46747708 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:46747708G>A ENST00000311907.5 + 7 915 c.859G>A c.(859-861)Gac>Aac p.D287N F2_ENST00000530231.1_Missense_Mutation_p.D287N NM_000506.3 NP_000497.1 P00734 THRB_HUMAN coagulation factor II (thrombin) 287 Kringle 2. activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) TGGGTACTGCGACCTCAACTA 0.582000 62 9 0 0 1 0 0 NUDT16L1 84309 broad.mit.edu 37 16 4743802 4743802 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:4743802C>T ENST00000405142.1 + 1 84 c.75C>T c.(73-75)agC>agT p.S25S NUDT16L1_ENST00000304301.6_Silent_p.S25S|NUDT16L1_ENST00000586536.1_Silent_p.S25S|NUDT16L1_ENST00000586252.1_Silent_p.S25S Q9BRJ7 SDOS_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1 25 cytoplasm hydrolase activity endometrium(1)|large_intestine(1)|lung(1)|skin(1) 4 CGGGCTGGAGCCACTCGTGCC 0.716000 4 7 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86469000 86469000 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:86469000G>A ENST00000361669.2 + 4 3269 c.2170G>A c.(2170-2172)Gaa>Aaa p.E724K GRM3_ENST00000546348.1_Missense_Mutation_p.E316K|GRM3_ENST00000536043.1_Missense_Mutation_p.E596K|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 724 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) AGAGAAGCGGGAAACAGTCAT 0.498000 24 31 0 0 1 0 0 CCDC110 256309 broad.mit.edu 37 4 186379979 186379979 + Silent SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:186379979A>G ENST00000307588.3 - 6 1837 c.1762T>C c.(1762-1764)Tta>Cta p.L588L CCDC110_ENST00000393540.3_Silent_p.L551L|CCDC110_ENST00000510617.1_Silent_p.L588L NM_152775.3 NP_689988.1 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 588 nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9) 30 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) TTTTTCTCTAACATTTCTTTT 0.308000 31 41 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151171382 151171382 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:151171382G>A ENST00000282466.3 - 3 504 c.505C>T c.(505-507)Cac>Tac p.H169Y NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 169 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GTATCTGGGTGGAGCTTAGTG 0.418000 47 55 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 36229804 36229804 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr13:36229804C>T ENST00000400445.3 + 54 8751 c.8217C>T c.(8215-8217)atC>atT p.I2739I NBEA_ENST00000379922.3_Silent_p.I317I|NBEA_ENST00000310336.4_Silent_p.I2739I|NBEA_ENST00000537702.1_Silent_p.I532I|NBEA_ENST00000379939.2_Silent_p.I2736I|NBEA_ENST00000540320.1_Silent_p.I2739I NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 2739 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ACTGCTACATCGTGTCCGGAT 0.512000 49 167 0 0 1 0 0 HSP90AB2P 391634 broad.mit.edu 37 4 13338663 13338663 + RNA SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:13338663G>A ENST00000602906.1 + 0 451 kidney(3)|lung(1) 4 CCTTAAAGAAGATCAGACAGA 0.488000 25 30 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20037429 20037429 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr20:20037429C>T ENST00000245957.5 + 2 208 c.132C>T c.(130-132)atC>atT p.I44I C20orf26_ENST00000377306.1_Silent_p.I44I|C20orf26_ENST00000451767.2_Silent_p.I44I|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 44 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) AGCTAAATATCATCTATCTTC 0.368000 48 76 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141736713 141736713 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:141736713C>T ENST00000475668.2 + 18 2221 c.2167C>T c.(2167-2169)Cta>Tta p.L723L MGAM_ENST00000549489.2_Silent_p.L723L O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 723 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ATTGCCCTACCTATACACCCT 0.512000 115 155 0 0 1 0 0 ELF4 2000 broad.mit.edu 37 X 129201425 129201425 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:129201425C>T ENST00000308167.5 - 9 1642 c.1263G>A c.(1261-1263)acG>acA p.T421T ELF4_ENST00000335997.7_Silent_p.T421T NM_001421.3 NP_001412.1 Q99607 ELF4_HUMAN E74-like factor 4 (ets domain transcription factor) 421 natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 22 TCAGTGGGATCGTCTGCAGGG 0.592000 T ERG AML 55 4 0 0 1 0 0 CASS4 57091 broad.mit.edu 37 20 55027362 55027362 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr20:55027362C>T ENST00000371336.3 + 5 1331 c.1130C>T c.(1129-1131)gCg>gTg p.A377V CASS4_ENST00000360314.3_Missense_Mutation_p.A377V|CASS4_ENST00000434344.1_Intron NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 377 Ser-rich. cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 GAGAATTCCGCGGGCCATAAT 0.502000 30 35 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19483499 19483499 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:19483499C>T ENST00000507958.1 - 14 2783 c.1793G>A c.(1792-1794)cGg>cAg p.R598Q CDH18_ENST00000502796.1_Missense_Mutation_p.G562R|CDH18_ENST00000382275.1_Missense_Mutation_p.R598Q|CDH18_ENST00000274170.4_Missense_Mutation_p.R598Q|CDH18_ENST00000506372.1_Missense_Mutation_p.G563R Q13634 CAD18_HUMAN cadherin 18, type 2 598 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) ATGGCAGGTCCGCACACGCCC 0.527000 17 2 0 0 1 0 0 NIPAL4 348938 broad.mit.edu 37 5 156898686 156898686 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:156898686C>T ENST00000311946.7 + 5 749 c.633C>T c.(631-633)ttC>ttT p.F211F ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Silent_p.F192F NM_001099287.1 NP_001092757.1 Q0D2K0 NIPA4_HUMAN NIPA-like domain containing 4 211 integral to membrane receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1) 22 CCTCATATTTCCTGAGGGAGA 0.547000 OREG0016979 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 8 0 0 1 0 0 CRMP1 1400 broad.mit.edu 37 4 5868433 5868433 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:5868433G>A ENST00000324989.7 - 2 520 c.432C>T c.(430-432)tcC>tcT p.S144S CRMP1_ENST00000397890.2_Silent_p.S30S|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Silent_p.S28S NM_001014809.1 NP_001014809.1 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 30 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 Colorectal(103;0.0721) CAGCATAAAGGGATTGGTCAT 0.478000 38 61 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154393573 154393573 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:154393573G>A ENST00000435029.4 + 1 314 c.154G>A c.(154-156)Gat>Aat p.D52N NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 52 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CTTCACCTACGATTTTGTGTT 0.483000 36 18 0 0 1 0 0 SDR16C5 195814 broad.mit.edu 37 8 57228786 57228786 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:57228786C>T ENST00000396721.2 - 2 251 c.121G>A c.(121-123)Gaa>Aaa p.E41K SDR16C5_ENST00000522671.1_Missense_Mutation_p.E41K|SDR16C5_ENST00000303749.3_Missense_Mutation_p.E41K Q8N3Y7 RDHE2_HUMAN short chain dehydrogenase/reductase family 16C, member 5 41 detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 AGGACTATTTCACCAGCAACG 0.448000 48 79 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 83065753 83065753 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:83065753G>A ENST00000566620.1 + 3 586 c.296G>A c.(295-297)cGg>cAg p.R99Q CDH13_ENST00000268613.10_Missense_Mutation_p.R146Q|CDH13_ENST00000446376.2_Missense_Mutation_p.R99Q|CDH13_ENST00000431540.3_Missense_Mutation_p.R99Q|CDH13_ENST00000428848.3_Missense_Mutation_p.R99Q|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000565636.1_Missense_Mutation_p.R99Q NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 99 adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) GTCCATGCACGGACCCCCCAT 0.512000 11 15 0 0 1 0 0 DNM3 26052 broad.mit.edu 37 1 172357894 172357894 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:172357894G>A ENST00000358155.4 + 20 2643 c.2467G>A c.(2467-2469)Gga>Aga p.G823R DNM3_ENST00000367731.1_Missense_Mutation_p.G819R|DNM3_ENST00000355305.5_Missense_Mutation_p.G829R NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 829 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 TGACTCCTTCGGAGCCCCTCC 0.622000 10 16 0 0 1 0 0 ACSM2A 123876 broad.mit.edu 37 16 20482414 20482414 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:20482414C>T ENST00000573854.1 + 5 730 c.616C>T c.(616-618)Cac>Tac p.H206Y ACSM2A_ENST00000396104.2_Missense_Mutation_p.H206Y|ACSM2A_ENST00000417235.2_Missense_Mutation_p.H127Y|ACSM2A_ENST00000536134.1_Silent_p.I7I|ACSM2A_ENST00000575690.1_Missense_Mutation_p.H206Y|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Missense_Mutation_p.H206Y NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 206 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 CACCACTCATCACTGTGTGGA 0.507000 52 41 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 84028139 84028139 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:84028139C>T ENST00000280241.8 - 1 49 c.50G>A c.(49-51)gGg>gAg p.G17E DLG2_ENST00000543673.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398301.2_Missense_Mutation_p.G17E NM_001206769.1 NP_001193698.1 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 0 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) GGCATCCATCCCATCGGACCC 0.572000 89 110 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453137 140453137 + Missense_Mutation SNP C C T rs121913227 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:140453137C>T ENST00000288602.6 - 15 1858 c.1798G>A c.(1798-1800)Gtg>Atg p.V600M 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.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(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) CGAGATTTCACTGTAGCTAGA 0.363000 V600M(IGR1_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 37 45 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179441841 179441841 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:179441841G>A ENST00000589042.1 - 324 69445 c.69221C>T c.(69220-69222)tCc>tTc p.S23074F TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S21433F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S14134F|TTN_ENST00000342992.6_Missense_Mutation_p.S20506F|TTN_ENST00000460472.2_Missense_Mutation_p.S14009F|TTN_ENST00000342175.6_Missense_Mutation_p.S14201F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21433 P -> L. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAGTATATAGGACTTAATTGG 0.453000 35 96 0 0 1 0 0 PTPN13 5783 broad.mit.edu 37 4 87674195 87674195 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:87674195C>T ENST00000436978.1 + 20 3680 c.3200C>T c.(3199-3201)tCc>tTc p.S1067F PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000427191.2_Intron|PTPN13_ENST00000411767.2_Missense_Mutation_p.S1067F|PTPN13_ENST00000511467.1_Missense_Mutation_p.S1067F NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 1067 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) AACTCTTCATCCCAAGTACCC 0.348000 17 18 0 0 1 0 0 CYP2C8 1558 broad.mit.edu 37 10 96827158 96827158 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:96827158G>A ENST00000539050.1 - 2 591 c.30C>T c.(28-30)ttC>ttT p.F10F CYP2C8_ENST00000535898.1_Intron|CYP2C8_ENST00000371270.3_Intron P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 169 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) CACAGCCAAGGAAGAAAGTGC 0.478000 26 8 0 0 1 0 0 ITGA7 3679 broad.mit.edu 37 12 56094762 56094762 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:56094762G>A ENST00000257880.7 - 4 810 c.591C>T c.(589-591)tgC>tgT p.C197C ITGA7_ENST00000257879.6_Silent_p.C197C|ITGA7_ENST00000394229.2_Silent_p.C197C|ITGA7_ENST00000553804.1_Silent_p.C197C|ITGA7_ENST00000394230.2_Silent_p.C197C|ITGA7_ENST00000555728.1_Silent_p.C197C|ITGA7_ENST00000347027.6_Silent_p.C197C|ITGA7_ENST00000452168.2_Silent_p.C100C Q13683 ITA7_HUMAN integrin, alpha 7 197 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 TGCCCTGCTGGCAGAACCCAA 0.587000 18 21 0 0 1 0 0 ATP2B1 490 broad.mit.edu 37 12 89998001 89998001 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:89998001G>A ENST00000428670.3 - 16 3021 c.2565C>T c.(2563-2565)ttC>ttT p.F855F ATP2B1_ENST00000261173.2_Silent_p.F855F|ATP2B1_ENST00000359142.3_Silent_p.F855F|ATP2B1_ENST00000393164.2_Silent_p.F598F|ATP2B1_ENST00000348959.3_Silent_p.F855F P20020 AT2B1_HUMAN ATPase, Ca++ transporting, plasma membrane 1 855 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 GGAACTGAAGGAATTTTGAGA 0.383000 32 22 0 0 1 0 0 DTX3 196403 broad.mit.edu 37 12 58002893 58002893 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:58002893G>A ENST00000548198.1 + 5 2506 c.1002G>A c.(1000-1002)cgG>cgA p.R334R DTX3_ENST00000548804.1_Silent_p.R334R|DTX3_ENST00000337737.3_Silent_p.R334R|DTX3_ENST00000551632.1_Silent_p.R337R Q8N9I9 DTX3_HUMAN deltex homolog 3 (Drosophila) 334 Notch signaling pathway cytoplasm zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1) 12 Melanoma(17;0.122) ACCTGACCCGGGTGCAAGAGG 0.547000 13 42 0 0 1 0 0 NRD1 4898 broad.mit.edu 37 1 52344001 52344001 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:52344001C>T ENST00000354831.7 - 1 476 c.287G>A c.(286-288)aGt>aAt p.S96N NRD1_ENST00000352171.7_Missense_Mutation_p.S96N|NRD1_ENST00000544028.1_Intron NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 96 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 CCCAGCATTACTGAGAGACCC 0.612000 34 51 0 0 1 0 0 PATZ1 23598 broad.mit.edu 37 22 31738942 31738942 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr22:31738942C>T ENST00000266269.5 - 2 1905 c.1276G>A c.(1276-1278)Gat>Aat p.D426N PATZ1_ENST00000351933.4_Missense_Mutation_p.D426N|PATZ1_ENST00000405309.3_Missense_Mutation_p.D426N|PATZ1_ENST00000215919.3_Missense_Mutation_p.D426N NM_014323.2 NP_055138.2 Q9HBE1 PATZ1_HUMAN POZ (BTB) and AT hook containing zinc finger 1 426 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/PATZ1(2) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2) 12 TTCAAGTGATCAGGCCTGGAA 0.527000 38 121 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128320017 128320017 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:128320017G>A ENST00000368227.3 - 17 2929 c.2563C>T c.(2563-2565)Cgc>Tgc p.R855C PTPRK_ENST00000368215.3_Missense_Mutation_p.R842C|PTPRK_ENST00000368210.3_Missense_Mutation_p.R855C|PTPRK_ENST00000532331.1_Missense_Mutation_p.R859C|PTPRK_ENST00000368213.5_Missense_Mutation_p.R843C|PTPRK_ENST00000368226.4_Missense_Mutation_p.R843C|PTPRK_ENST00000368207.3_Missense_Mutation_p.R869C Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 842 cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) TCTAGAAGGCGACTGGACTCT 0.448000 15 28 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141722156 141722156 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:141722156G>A ENST00000475668.2 + 7 853 c.799G>A c.(799-801)Gga>Aga p.G267R MGAM_ENST00000549489.2_Missense_Mutation_p.G267R O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 267 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity p.G267*(4) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GTATGGCCTGGGAGAGCATGT 0.502000 61 53 0 0 1 0 0 IL17RE 132014 broad.mit.edu 37 3 9945716 9945716 + Splice_Site SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:9945716G>A ENST00000454190.2 + 3 234 c.148_splice c.e3-1 p.G50_splice IL17RE_ENST00000295980.3_Splice_Site_p.G50_splice|IL17RE_ENST00000421412.1_Splice_Site_p.G83_splice|IL17RE_ENST00000383814.3_Splice_Site_p.G50_splice NM_001193380.1 NP_001180309.1 Q8NFR9 I17RE_HUMAN interleukin 17 receptor E 50 cytoplasm|extracellular region|integral to membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(96;5.34e-64) TCTTTCCCAGGAAGTTCTGCC 0.537000 102 124 0 0 1 0 0 CNGA4 1262 broad.mit.edu 37 11 6265192 6265192 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:6265192G>A ENST00000379936.2 + 6 1396 c.1281G>A c.(1279-1281)ggG>ggA p.G427G NM_001037329.3 NP_001032406.1 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 427 response to stimulus|sensory perception of smell cAMP binding endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACATGTCTGGGAACCGCCGCA 0.562000 29 41 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48311748 48311748 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:48311748G>A ENST00000435803.1 + 17 2509 c.2485G>A c.(2485-2487)Gaa>Aaa p.E829K NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 829 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 AATACTTTTTGAAATTAATCC 0.318000 14 12 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48448477 48448477 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:48448477G>A ENST00000358536.4 - 35 6378 c.6109C>T c.(6109-6111)Ctg>Ttg p.L2037L PLXNB1_ENST00000456774.1_Silent_p.L1854L|PLXNB1_ENST00000448774.2_Silent_p.L648L|PLXNB1_ENST00000358459.4_Silent_p.L1854L|PLXNB1_ENST00000296440.6_Silent_p.L2037L NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 2037 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CGTGCATACAGAAGTTTGTTG 0.572000 37 51 0 0 1 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44221313 44221313 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:44221313C>T ENST00000371554.1 + 12 2367 c.2153C>T c.(2152-2154)tCt>tTt p.S718F HSP90AB1_ENST00000371646.5_Missense_Mutation_p.S718F|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.S718F P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 718 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GAGGATGCGTCTCGCATGGAA 0.512000 OREG0017471 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 80 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18573875 18573875 + Splice_Site SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:18573875T>C ENST00000433979.1 + 16 2309 c.2192_splice c.e16-1 p.S731_splice PIK3C2G_ENST00000266497.5_Splice_Site_p.S731_splice|PIK3C2G_ENST00000538779.1_Splice_Site_p.S772_splice NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 731 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) TGTGTATTAGTTTTCCAGATC 0.373000 33 30 0 0 1 0 0 CEP135 9662 broad.mit.edu 37 4 56890737 56890737 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:56890737C>T ENST00000257287.4 + 25 3515 c.3391C>T c.(3391-3393)Cct>Tct p.P1131S NM_025009.4 NP_079285.2 Q66GS9 CP135_HUMAN centrosomal protein 135kDa 1131 centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 50 Glioma(25;0.08)|all_neural(26;0.101) TCTGAGGTCTCCTTCACATTC 0.398000 109 155 0 0 1 0 0 PPP4R4 57718 broad.mit.edu 37 14 94707102 94707102 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:94707102C>T ENST00000304338.3 + 9 1100 c.946C>T c.(946-948)Cat>Tat p.H316Y NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 316 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 TTTATCTTTCCATTTAGGAAA 0.289000 14 17 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910607 29910607 + Silent SNP G G C rs72555397 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:29910607G>C ENST00000396634.1 + 4 488 c.147G>C c.(145-147)gtG>gtC p.V49V HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V P30443 1A01_HUMAN major histocompatibility complex, class I, A 49 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.V49V(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TCATCGCCGTGGGCTACGTGG 0.692000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 4 55 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138442555 138442555 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:138442555G>A ENST00000344876.4 - 4 3422 c.3036C>T c.(3034-3036)ttC>ttT p.F1012F PCDH18_ENST00000511115.1_Silent_p.F192F|PCDH18_ENST00000412923.2_Silent_p.F1011F|PCDH18_ENST00000510305.1_Silent_p.F223F|PCDH18_ENST00000507846.1_Silent_p.F791F NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 1012 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) AGAGACGCTGGAACACACTGC 0.532000 45 48 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24835075 24835075 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:24835075G>A ENST00000376454.3 + 21 5684 c.5654G>A c.(5653-5655)gGc>gAc p.G1885D KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000376452.3_Missense_Mutation_p.G1316D|KIAA1217_ENST00000376462.1_Missense_Mutation_p.G1206D|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000458595.1_Missense_Mutation_p.G1291D NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 1885 Ser-rich. embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 AGTCAAAATGGCCGAGCAccc 0.517000 46 12 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167217996 167217996 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:167217996C>T ENST00000308378.3 - 14 2225 c.1920G>A c.(1918-1920)agG>agA p.R640R WDR49_ENST00000476376.1_Silent_p.R465R|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Silent_p.R605R NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 640 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 CTGGTTCTTTCCTAAAGTATT 0.438000 118 134 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30701013 30701013 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:30701013C>T ENST00000256246.2 - 1 5595 c.5521G>A c.(5521-5523)Gac>Aac p.D1841N NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1841 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTAGGAGAGTCCCCACATACA 0.358000 63 17 0 0 1 0 0 IFT43 112752 broad.mit.edu 37 14 76488722 76488722 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:76488722C>T ENST00000556742.1 + 3 203 c.200C>T c.(199-201)tCc>tTc p.S67F IFT43_ENST00000238628.6_Missense_Mutation_p.S67F|IFT43_ENST00000553338.1_3'UTR|IFT43_ENST00000314067.6_Missense_Mutation_p.S67F NM_001255995.1 NP_001242924.1 Q96FT9 IFT43_HUMAN intraflagellar transport 43 homolog (Chlamydomonas) 67 cilium morphogenesis|intraflagellar retrograde transport endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 GCAGGTGATTCCGTGAAGGCT 0.478000 32 78 0 0 1 0 0 C17orf70 80233 broad.mit.edu 37 17 79514225 79514225 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:79514225G>A ENST00000537152.1 - 5 1955 c.1430C>T c.(1429-1431)cCc>cTc p.P477L C17orf70_ENST00000425898.2_Missense_Mutation_p.P277L|C17orf70_ENST00000327787.8_Missense_Mutation_p.P628L NM_025161.5 NP_079437.5 Q0VG06 FP100_HUMAN chromosome 17 open reading frame 70 628 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) GACGTCGGAGGGGCACTCATC 0.662000 55 56 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19856954 19856954 + RNA SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:19856954C>T ENST00000548109.1 + 0 72 TAAACATGCTCCCTATTTCTG 0.383000 12 33 0 0 1 0 0 CR2 1380 broad.mit.edu 37 1 207647184 207647184 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:207647184C>T ENST00000367057.3 + 12 2383 c.2194C>T c.(2194-2196)Cca>Tca p.P732S CR2_ENST00000458541.2_Missense_Mutation_p.P646S|CR2_ENST00000367059.3_Missense_Mutation_p.P673S|CR2_ENST00000367058.3_Missense_Mutation_p.P673S NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 794 Sushi 12. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 TCAAGAACTTCCAGCTGGTTC 0.423000 53 75 0 0 1 0 0 KCTD12 115207 broad.mit.edu 37 13 77459429 77459429 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr13:77459429G>A ENST00000377474.2 - 1 1096 c.855C>T c.(853-855)tcC>tcT p.S285S KCTD12_ENST00000317765.2_Silent_p.S285S NM_138444.3 NP_612453.1 Q96CX2 KCD12_HUMAN potassium channel tetramerization domain containing 12 285 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity kidney(1)|large_intestine(1)|lung(1)|ovary(1) 4 Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.0499) AGCCCGACTCGGACAGCTTGT 0.637000 OREG0022449 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 7 0 0 1 0 0 OR4S2 219431 broad.mit.edu 37 11 55418737 55418737 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:55418737C>T ENST00000312422.2 + 1 358 c.358C>T c.(358-360)Cgt>Tgt p.R120C NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R120C(1) endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) GGCCTATGATCGTTATGTGGC 0.428000 99 142 0 0 1 0 0 FOXI2 399823 broad.mit.edu 37 10 129536903 129536903 + Missense_Mutation SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:129536903A>G ENST00000388920.4 + 2 670 c.631A>G c.(631-633)Agc>Ggc p.S211G NM_207426.2 NP_997309.2 Q6ZQN5 FOXI2_HUMAN forkhead box I2 211 epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA 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 large_intestine(1)|lung(3) 4 all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222) GGGAGCCAGGAGCGTGGGAGG 0.697000 5 1 0 0 1 0 0 RNF40 9810 broad.mit.edu 37 16 30774532 30774532 + Nonsense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:30774532C>T ENST00000324685.6 + 3 661 c.226C>T c.(226-228)Cga>Tga p.R76* RNF40_ENST00000563683.1_Nonsense_Mutation_p.R76*|RNF40_ENST00000357890.5_Nonsense_Mutation_p.R76*|RNF40_ENST00000402121.3_Nonsense_Mutation_p.R76* NM_001207033.1|NM_014771.3 NP_001193962.1|NP_055586.1 O75150 BRE1B_HUMAN ring finger protein 40, E3 ubiquitin protein ligase 76 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) ACTCCGAGAACGAATTGAGAA 0.517000 29 44 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75037210 75037210 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:75037210C>T ENST00000326665.5 - 14 4402 c.4184G>A c.(4183-4185)gGa>gAa p.G1395E C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1395 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TGCTGTTTTTCCTACTAACTC 0.498000 62 80 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1994045 1994045 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:1994045G>A ENST00000382722.5 - 11 1523 c.1161C>T c.(1159-1161)ttC>ttT p.F387F CACNA2D4_ENST00000588077.1_Silent_p.F323F|CACNA2D4_ENST00000585732.1_Silent_p.F303F|CACNA2D4_ENST00000587995.1_Silent_p.F387F|CACNA2D4_ENST00000585708.1_Silent_p.F323F|CACNA2D4_ENST00000586184.1_Silent_p.F387F NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 387 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) TGGCCTCTTGGAACTGTGTAG 0.612000 11 23 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48389734 48389734 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:48389734C>T ENST00000224600.4 - 1 1257 c.1144G>A c.(1144-1146)Gat>Aat p.D382N NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 382 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) AGCCTGGGATCCTCAGACGCA 0.647000 26 9 0 0 1 0 0 LGI1 9211 broad.mit.edu 37 10 95518009 95518009 + Silent SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:95518009A>G ENST00000371418.4 + 1 368 c.108A>G c.(106-108)aaA>aaG p.K36K LGI1_ENST00000478763.1_3'UTR|LGI1_ENST00000371413.3_Silent_p.K36K|LGI1_ENST00000542308.1_Silent_p.K36K NM_005097.2 NP_005088.1 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 36 LRRNT. axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) AGGGGAAGAAACCAGCGAAGC 0.453000 67 7 0 0 1 0 0 KAT5 10524 broad.mit.edu 37 11 65484175 65484175 + Missense_Mutation SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:65484175T>C ENST00000341318.4 + 9 1301 c.1067T>C c.(1066-1068)tTc>tCc p.F356S KAT5_ENST00000530446.1_Missense_Mutation_p.F304S|KAT5_ENST00000534650.1_Missense_Mutation_p.F112S|KAT5_ENST00000352980.4_Missense_Mutation_p.F271S|KAT5_ENST00000377046.3_Missense_Mutation_p.F323S NM_182710.2 NP_874369.1 Q92993 KAT5_HUMAN K(lysine) acetyltransferase 5 323 androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9) 21 GCCAAGTGTTTCCTTGACCAT 0.498000 78 97 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128484918 128484918 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:128484918C>T ENST00000325888.8 + 21 3660 c.3399C>T c.(3397-3399)atC>atT p.I1133I FLNC_ENST00000346177.6_Silent_p.I1133I NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1133 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CCATCAACATCCTGTTTGCTG 0.627000 57 81 0 0 1 0 0 DDX11 1663 broad.mit.edu 37 12 31236892 31236892 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:31236892C>T ENST00000251758.5 + 3 541 c.290C>T c.(289-291)tCc>tTc p.S97F DDX11_ENST00000545668.1_Missense_Mutation_p.S97F|DDX11_ENST00000228264.6_Missense_Mutation_p.S71F|DDX11_ENST00000407793.2_Missense_Mutation_p.S97F|DDX11_ENST00000350437.4_Missense_Mutation_p.S97F|DDX11_ENST00000542838.1_Missense_Mutation_p.S97F Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 97 Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) CTGTCTTCTTCCTGCGAAGGG 0.537000 Multiple Myeloma(12;0.14) 74 61 0 0 1 0 0 PIK3R5 23533 broad.mit.edu 37 17 8784239 8784239 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:8784239G>A ENST00000447110.1 - 18 2602 c.2478C>T c.(2476-2478)atC>atT p.I826I PIK3R5_ENST00000584803.1_Silent_p.I825I|PIK3R5_ENST00000581552.1_Silent_p.I826I NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 826 platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 CACTCTGCAGGATCTTTCTCT 0.572000 36 8 0 0 1 0 0 CCDC170 80129 broad.mit.edu 37 6 151936701 151936701 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:151936701G>A ENST00000367290.5 + 10 1944 c.1855G>A c.(1855-1857)Gaa>Aaa p.E619K CCDC170_ENST00000239374.7_Missense_Mutation_p.E612K Q8IYT3 CF097_HUMAN coiled-coil domain containing 170 612 GGATACCACAGAACATGAGGC 0.398000 84 76 0 0 1 0 0 CNN3 1266 broad.mit.edu 37 1 95367312 95367312 + Silent SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:95367312A>G ENST00000370206.4 - 5 797 c.414T>C c.(412-414)atT>atC p.I138I CNN3_ENST00000487539.1_5'UTR|CNN3_ENST00000545882.1_Silent_p.I97I|CNN3_ENST00000538964.1_Silent_p.I138I|CNN3_ENST00000394202.4_Silent_p.I92I NM_001839.3 NP_001830.1 Q15417 CNN3_HUMAN calponin 3, acidic 138 actomyosin structure organization|smooth muscle contraction actin binding|calmodulin binding|tropomyosin binding|troponin C binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2) 18 all_lung(203;0.00206)|Lung NSC(277;0.00948) all cancers(265;0.0325)|Epithelial(280;0.0861) CTCCAATGTCAATGGTTGTAT 0.368000 14 32 0 0 1 0 0 HTR1E 3354 broad.mit.edu 37 6 87725856 87725856 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:87725856C>T ENST00000305344.4 + 2 1507 c.804C>T c.(802-804)ttC>ttT p.F268F HTR1E_ENST00000369584.1_Silent_p.F268F NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 268 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) TCCCCCCCTTCGACAATGATC 0.507000 43 100 0 0 1 0 0 CAMK2G 818 broad.mit.edu 37 10 75576875 75576875 + Splice_Site SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:75576875C>T ENST00000423381.1 - 21 1563 c.1439_splice c.e21-1 p.T480_splice CAMK2G_ENST00000305762.7_Splice_Site_p.T421_splice|CAMK2G_ENST00000351293.3_Splice_Site_p.T387_splice|CAMK2G_ENST00000322680.3_Splice_Site_p.T448_splice|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000394762.2_Splice_Site_p.T425_splice|CAMK2G_ENST00000372765.1_Splice_Site_p.T408_splice|CAMK2G_ENST00000322635.3_Splice_Site_p.T419_splice NM_001204492.1 NP_001191421.1 Q13555 KCC2G_HUMAN calcium/calmodulin-dependent protein kinase II gamma 450 insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 15 Prostate(51;0.0112) CACAAATCTTCCTACAGGGAG 0.473000 67 22 0 0 1 0 0 PPFIA1 8500 broad.mit.edu 37 11 70224281 70224281 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:70224281C>T ENST00000253925.7 + 26 3745 c.3530C>T c.(3529-3531)cCa>cTa p.P1177L AP000487.5_ENST00000500185.2_RNA|PPFIA1_ENST00000530548.1_3'UTR|AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.P1177L NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 1177 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) TCTATGCAGCCAAAGAAGATG 0.473000 35 49 0 0 1 0 0 SOX30 11063 broad.mit.edu 37 5 157065365 157065365 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:157065365G>A ENST00000265007.6 - 4 2094 c.1753C>T c.(1753-1755)Ccc>Tcc p.P585S SOX30_ENST00000519442.1_Missense_Mutation_p.P280S|SOX30_ENST00000311371.5_Intron NM_178424.1 NP_848511.1 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 585 Pro-rich. regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGTGGAATGGGAGAAGCCTGG 0.547000 30 22 0 0 1 0 0 CCL22 6367 broad.mit.edu 37 16 57397432 57397432 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:57397432G>A ENST00000219235.4 + 3 259 c.214G>A c.(214-216)Gat>Aat p.D72N NM_002990.4 NP_002981.2 O00626 CCL22_HUMAN chemokine (C-C motif) ligand 22 72 cell-cell signaling|chemotaxis|immune response|inflammatory response|response to virus|signal transduction extracellular space chemokine activity large_intestine(1)|lung(1)|prostate(1)|skin(1) 4 AACCTTCAGGGATAAGGAGAT 0.522000 14 32 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167060703 167060703 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:167060703C>T ENST00000375387.4 - 26 4879 c.4539G>A c.(4537-4539)gtG>gtA p.V1513V AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.V1501V|SCN9A_ENST00000409435.1_Silent_p.V1512V|SCN9A_ENST00000303354.6_Silent_p.V1513V Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1512 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) CTTGATTTGTCACTAGGTCAA 0.328000 30 59 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131955666 131955666 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:131955666C>T ENST00000286355.5 - 4 3376 c.1284G>A c.(1282-1284)acG>acA p.T428T ADCY8_ENST00000377928.3_Silent_p.T428T|RP11-737F9.1_ENST00000523318.1_RNA NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 428 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CAGACAAGGTCGTGGAGAGGT 0.453000 HNSCC(32;0.087) 25 41 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20598203 20598203 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:20598203G>A ENST00000504154.1 + 32 3738 c.3486G>A c.(3484-3486)gtG>gtA p.V1162V SLIT2_ENST00000273739.5_Silent_p.V1175V|SLIT2_ENST00000503823.1_Silent_p.V1154V|SLIT2_ENST00000503837.1_Silent_p.V1158V NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1162 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TGGTTAGTGTGAATTTTATAA 0.403000 30 38 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121415582 121415582 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:121415582G>A ENST00000393667.3 - 13 3898 c.3788C>T c.(3787-3789)tCt>tTt p.S1263F GOLGB1_ENST00000340645.5_Missense_Mutation_p.S1258F NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 1258 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TGGAGTGGAAGAACACGATTC 0.453000 55 70 0 0 1 0 0 KCNJ8 3764 broad.mit.edu 37 12 21926284 21926284 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:21926284G>A ENST00000240662.2 - 2 612 c.267C>T c.(265-267)atC>atT p.I89I NM_004982.3 NP_004973.1 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel, subfamily J, member 8 89 voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) GCCACCACATGATAGCGAAGA 0.512000 OREG0021704 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 51 34 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52569741 52569741 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:52569741C>T ENST00000395489.2 - 14 1921 c.1525G>A c.(1525-1527)Gaa>Aaa p.E509K A1CF_ENST00000373997.3_Missense_Mutation_p.E508K|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000395495.1_Missense_Mutation_p.E461K|A1CF_ENST00000373993.1_Missense_Mutation_p.E516K|A1CF_ENST00000374001.1_Missense_Mutation_p.E508K|A1CF_ENST00000373995.3_Missense_Mutation_p.E516K|A1CF_ENST00000282641.2_Missense_Mutation_p.E516K NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 516 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding p.E516K(1)|p.E508K(1) NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 AGGGTGTATTCGGCTGCATAC 0.527000 33 8 0 0 1 0 0 EDNRA 1909 broad.mit.edu 37 4 148463691 148463691 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:148463691G>A ENST00000324300.5 + 8 1720 c.1205G>A c.(1204-1206)gGa>gAa p.G402E EDNRA_ENST00000511804.1_Missense_Mutation_p.G177E|EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000506066.1_Missense_Mutation_p.G293E|EDNRA_ENST00000358556.4_Missense_Mutation_p.G293E NM_001957.3 NP_001948.1 P25101 EDNRA_HUMAN endothelin receptor type A 402 activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1) 17 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) CCCATGAACGGAACAAGCATC 0.532000 46 49 0 0 1 0 0 NFE2 4778 broad.mit.edu 37 12 54686212 54686212 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:54686212G>A ENST00000540264.2 - 2 1577 c.1068C>T c.(1066-1068)gcC>gcT p.A356A NFE2_ENST00000312156.4_Silent_p.A356A|NFE2_ENST00000435572.2_Silent_p.A356A|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Silent_p.A356A Q16621 NFE2_HUMAN nuclear factor, erythroid 2 356 blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytoplasm|PML body protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2) 16 TGGTCCCATCGGCAGCCTGTT 0.577000 18 61 0 0 1 0 0 CCR2 729230 broad.mit.edu 37 3 46399575 46399575 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:46399575C>T ENST00000292301.4 + 2 1042 c.557C>T c.(556-558)tCt>tTt p.S186F CCR2_ENST00000400888.2_Missense_Mutation_p.S186F|CCR2_ENST00000445132.2_Missense_Mutation_p.S186F|CCR2_ENST00000465202.1_Intron NM_001123041.2 NP_001116513.2 P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 186 astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) AAAGAAGATTCTGTTTATGTC 0.468000 144 169 0 0 1 0 0 FNIP2 57600 broad.mit.edu 37 4 159790119 159790119 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:159790119C>T ENST00000264433.6 + 13 2406 c.2331C>T c.(2329-2331)tgC>tgT p.C777C FNIP2_ENST00000379346.3_Silent_p.C800C NM_020840.1 NP_065891.1 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 777 Interaction with PRKAA1. DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) AGAATGTTTGCTGTCCTCAGA 0.552000 71 53 0 0 1 0 0 ABAT 18 broad.mit.edu 37 16 8858601 8858601 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:8858601C>T ENST00000396600.2 + 8 1392 c.454C>T c.(454-456)Ccc>Tcc p.P152S ABAT_ENST00000425191.2_Missense_Mutation_p.P152S|ABAT_ENST00000268251.8_Missense_Mutation_p.P152S|ABAT_ENST00000569156.1_Missense_Mutation_p.P152S|ABAT_ENST00000567812.1_Missense_Mutation_p.P167S NM_000663.4 NP_000654.2 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase 152 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) ACAGGTGGCTCCCAAAGGGAT 0.597000 35 69 0 0 1 0 0 FOXI1 2299 broad.mit.edu 37 5 169535147 169535147 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:169535147C>T ENST00000306268.6 + 2 730 c.669C>T c.(667-669)tcC>tcT p.S223S FOXI1_ENST00000449804.2_Intron Q12951 FOXI1_HUMAN forkhead box I1 223 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA 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(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAGATGTTTCCTCTAGCACAG 0.512000 Pendred syndrome 18 47 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53678728 53678728 + Silent SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:53678728A>G ENST00000396424.3 - 3 201 c.112T>C c.(112-114)Ttg>Ctg p.L38L ZNF665_ENST00000600412.1_Intron NM_024733.3 NP_079009.3 Q9H7R5 ZN665_HUMAN zinc finger protein 665 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) TAATTCTCCAACATGACGTCC 0.468000 98 98 0 0 1 0 0 NEFM 4741 broad.mit.edu 37 8 24774618 24774618 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:24774618G>A ENST00000221166.5 + 3 2032 c.1250G>A c.(1249-1251)gGa>gAa p.G417E NEFM_ENST00000518131.1_Missense_Mutation_p.G417E|NEFM_ENST00000433454.2_Missense_Mutation_p.G41E|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.G417E P07197 NFM_HUMAN neurofilament, medium polypeptide 417 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) ACATTTGCAGGAAGCATCACT 0.438000 29 6 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62257029 62257029 + Missense_Mutation SNP T T G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr15:62257029T>G ENST00000261517.5 - 31 3156 c.3083A>C c.(3082-3084)cAa>cCa p.Q1028P VPS13C_ENST00000395896.4_Missense_Mutation_p.Q1028P|VPS13C_ENST00000249837.3_Missense_Mutation_p.Q985P|VPS13C_ENST00000395898.3_Missense_Mutation_p.Q985P NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1028 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 AGCTTGTGTTTGCAGCAACAG 0.363000 46 50 0 0 1 0 0 MAB21L1 4081 broad.mit.edu 37 13 36049891 36049891 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr13:36049891G>A ENST00000379919.4 - 1 941 c.385C>T c.(385-387)Cgg>Tgg p.R129W NBEA_ENST00000310336.4_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000540320.1_Intron NM_005584.4 NP_005575.1 Q13394 MB211_HUMAN mab-21-like 1 (C. elegans) 129 anatomical structure morphogenesis nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 20 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) AACCTGGACCGGATTTTGCGC 0.577000 17 61 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125058037 125058037 + Nonsense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:125058037G>A ENST00000522917.1 + 21 2825 c.2619G>A c.(2617-2619)tgG>tgA p.W873* FER1L6_ENST00000399018.1_Nonsense_Mutation_p.W873* NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 873 C2 3. integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CTCCGACCTGGAACCAGATGC 0.502000 163 189 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143018858 143018858 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:143018858G>A ENST00000343257.2 + 5 700 c.613G>A c.(613-615)Gaa>Aaa p.E205K CLCN1_ENST00000495612.1_3'UTR NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 205 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) TGTCCTGAAGGAATACCTCAC 0.532000 28 16 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100346061 100346061 + RNA SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:100346061G>A ENST00000542585.1 + 0 1365 ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCCGTCCATGGCATGGGCCCT 0.582000 10 19 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76532518 76532518 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:76532518C>T ENST00000307431.8 + 16 2674 c.2289C>T c.(2287-2289)atC>atT p.I763I CNTNAP4_ENST00000377504.4_Silent_p.I715I|CNTNAP4_ENST00000478060.1_Silent_p.I691I|CNTNAP4_ENST00000476707.1_Silent_p.I767I|CNTNAP4_ENST00000469589.1_3'UTR NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 764 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 TAACTAAGATCGTGATTACAG 0.403000 14 37 0 0 1 0 0 DYM 54808 broad.mit.edu 37 18 46812894 46812894 + Missense_Mutation SNP G G T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr18:46812894G>T ENST00000269445.6 - 9 1313 c.856C>A c.(856-858)Ctg>Atg p.L286M DYM_ENST00000442713.2_Missense_Mutation_p.L96M NM_017653.3 NP_060123.3 Q7RTS9 DYM_HUMAN dymeclin 286 Golgi apparatus NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 18 AGCAGAAGCAGGAGACTCTGG 0.547000 56 64 2.27459e-33 2.30879e-33 1 1 0 SPTBN2 6712 broad.mit.edu 37 11 66457360 66457360 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:66457360C>T ENST00000533211.1 - 29 6196 c.5865G>A c.(5863-5865)gaG>gaA p.E1955E SPTBN2_ENST00000529997.1_Silent_p.E1955E|SPTBN2_ENST00000309996.2_Silent_p.E1955E O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1955 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 GGGCCTCTATCTCTGCCTTGA 0.632000 56 50 0 0 1 0 0 MTTP 4547 broad.mit.edu 37 4 100518276 100518276 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:100518276C>T ENST00000457717.1 + 9 1218 c.962C>T c.(961-963)tCc>tTc p.S321F MTTP_ENST00000265517.5_Missense_Mutation_p.S321F|MTTP_ENST00000511045.1_Missense_Mutation_p.S348F|RP11-766F14.1_ENST00000508578.1_RNA NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 321 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) GACAACCTTTCCAAGGCTGAG 0.483000 76 81 0 0 1 0 0 OR2G3 81469 broad.mit.edu 37 1 247769160 247769160 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:247769160G>A ENST00000320002.2 + 1 305 c.273G>A c.(271-273)acG>acA p.T91T RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CAAAGAAGACGATCACTTACG 0.463000 156 31 0 0 1 0 0 LNX1 84708 broad.mit.edu 37 4 54373514 54373514 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:54373514C>T ENST00000306888.2 - 3 708 c.457G>A c.(457-459)Gaa>Aaa p.E153K LNX1-AS1_ENST00000514364.1_RNA|LNX1-AS1_ENST00000510785.1_RNA|LNX1-AS1_ENST00000511989.1_RNA|LNX1_ENST00000263925.7_Missense_Mutation_p.E249K|FIP1L1_ENST00000507166.1_Intron NM_032622.2 NP_116011.2 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1, E3 ubiquitin protein ligase 249 cytoplasm zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) TCAGAATTTTCCCTGCCCTGG 0.488000 53 59 0 0 1 0 0 AMY2A 279 broad.mit.edu 37 1 104160207 104160207 + Missense_Mutation SNP C C A rs147709536 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:104160207C>A ENST00000414303.2 + 1 209 c.145C>A c.(145-147)Ccg>Acg p.P49T NM_000699.2 NP_000690.1 P04746 AMYP_HUMAN amylase, alpha 2A (pancreatic) 49 carbohydrate catabolic process|polysaccharide digestion extracellular space alpha-amylase activity|calcium ion binding|chloride ion binding endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085) ATATTTAGCTCCGAAGGGATT 0.413000 134 147 2.92151e-79 2.97711e-79 1 1 0 ARHGEF18 23370 broad.mit.edu 37 19 7527133 7527133 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:7527133C>T ENST00000359920.6 + 11 2237 c.1984C>T c.(1984-1986)Ctg>Ttg p.L662L ARHGEF18_ENST00000319670.9_Silent_p.L504L|CTD-2207O23.3_ENST00000593531.1_Silent_p.T619T NM_001130955.1 NP_001124427.1 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 18 662 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 23 Renal(5;0.0902) CCTCGAAGACCTGCCCCAGCC 0.602000 59 68 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117691547 117691547 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:117691547G>A ENST00000317775.6 - 17 3229 c.2544C>T c.(2542-2544)gtC>gtT p.V848V NOS1_ENST00000338101.4_Silent_p.V882V|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 848 Flavodoxin-like. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TGTTGAATCGGACCTTGTAGC 0.547000 36 34 0 0 1 0 0 STXBP5 134957 broad.mit.edu 37 6 147646216 147646216 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:147646216G>A ENST00000367481.3 + 17 2032 c.1924G>A c.(1924-1926)Gga>Aga p.G642R STXBP5_ENST00000321680.6_Missense_Mutation_p.G642R|STXBP5_ENST00000367480.3_Missense_Mutation_p.G642R|STXBP5_ENST00000179882.6_Missense_Mutation_p.G313R NM_139244.4 NP_640337.3 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) 642 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 42 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) TTCTTCCTATGGACTGTAAGT 0.363000 31 23 0 0 1 0 0 HNF1A 6927 broad.mit.edu 37 12 121431475 121431475 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:121431475G>A ENST00000257555.6 + 3 905 c.679G>A c.(679-681)Gag>Aag p.E227K HNF1A_ENST00000543427.1_Missense_Mutation_p.E110K|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000402929.1_Missense_Mutation_p.E227K|HNF1A_ENST00000400024.2_Missense_Mutation_p.E227K|HNF1A_ENST00000541395.1_Missense_Mutation_p.E227K|HNF1A_ENST00000544413.1_Missense_Mutation_p.E227K P20823 HNF1A_HUMAN HNF1 homeobox A 227 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCCTAGCAAGGAGGAGCGAGA 0.602000 Hepatic Adenoma, Familial Clustering of 20 21 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112647831 112647831 + Missense_Mutation SNP T T A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:112647831T>A ENST00000550722.1 - 50 7812 c.7417A>T c.(7417-7419)Acc>Tcc p.T2473S HECTD4_ENST00000430131.2_Missense_Mutation_p.T2197S|HECTD4_ENST00000377560.5_Missense_Mutation_p.T2447S NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TGCTGAGCGGTGGCCACGGCA 0.532000 10 16 0 0 1 0 0 IGSF8 93185 broad.mit.edu 37 1 160061620 160061620 + Missense_Mutation SNP T T A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:160061620T>A ENST00000368086.1 - 6 2051 c.1835A>T c.(1834-1836)aAa>aTa p.K612I IGSF8_ENST00000314485.7_Missense_Mutation_p.K612I Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 612 cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GGATCACCGTTTTCGAAGCCT 0.557000 36 48 0 0 1 0 0 DMPK 1760 broad.mit.edu 37 19 46275920 46275920 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:46275920C>T ENST00000600757.1 - 9 2025 c.1338G>A c.(1336-1338)tcG>tcA p.S446S DMPK_ENST00000291270.4_Silent_p.S441S|DMPK_ENST00000447742.2_Silent_p.S436S|DMPK_ENST00000343373.4_Silent_p.S451S|DMPK_ENST00000354227.5_Silent_p.S436S|DMPK_ENST00000458663.2_Silent_p.S436S Q09013 DMPK_HUMAN dystrophia myotonica-protein kinase 451 regulation of heart contraction ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24) GTGGGGACACCGAGGGCTCCA 0.642000 11 24 0 0 1 0 0 HCN3 57657 broad.mit.edu 37 1 155257005 155257005 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:155257005C>T ENST00000368358.3 + 7 1527 c.1519C>T c.(1519-1521)Cgg>Tgg p.R507W HCN3_ENST00000496230.1_Intron NM_020897.1 NP_065948.1 Q9P1Z3 HCN3_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 3 507 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) AGCCAGTGTTCGGGCTGACAC 0.577000 31 35 0 0 1 0 0 HPS5 11234 broad.mit.edu 37 11 18319221 18319221 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:18319221G>A ENST00000396253.3 - 10 1328 c.866C>T c.(865-867)tCt>tTt p.S289F HPS5_ENST00000531848.1_Missense_Mutation_p.S289F|HPS5_ENST00000438420.2_Missense_Mutation_p.S289F|HPS5_ENST00000349215.3_Missense_Mutation_p.S403F NM_007216.3 NP_009147.3 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 403 cytosol breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 GTCCAGCTGAGATTTCAAATG 0.353000 Hermansky-Pudlak syndrome 58 42 0 0 1 0 0 USP53 54532 broad.mit.edu 37 4 120193172 120193172 + Silent SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:120193172A>G ENST00000450251.1 + 12 2701 c.2157A>G c.(2155-2157)aaA>aaG p.K719K USP53_ENST00000274030.6_Silent_p.K719K Q70EK8 UBP53_HUMAN ubiquitin specific peptidase 53 719 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 27 GTGGTGTTAAAGAAACAGTAT 0.348000 36 83 0 0 1 0 0 OR10S1 219873 broad.mit.edu 37 11 123848215 123848215 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:123848215C>T ENST00000531945.1 - 1 273 c.184G>A c.(184-186)Gtg>Atg p.V62M NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TCAGAGCCCACAGTTAGGAGG 0.527000 12 20 0 0 1 0 0 MUTYH 4595 broad.mit.edu 37 1 45798487 45798487 + Missense_Mutation SNP G G C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:45798487G>C ENST00000450313.1 - 7 739 c.524C>G c.(523-525)gCt>gGt p.A175G MUTYH_ENST00000355498.2_Missense_Mutation_p.A147G|MUTYH_ENST00000372104.1_Missense_Mutation_p.A147G|MUTYH_ENST00000529984.1_Silent_p.G45G|MUTYH_ENST00000354383.6_Missense_Mutation_p.A148G|MUTYH_ENST00000372115.3_Missense_Mutation_p.A161G|MUTYH_ENST00000372098.3_Missense_Mutation_p.A172G|MUTYH_ENST00000528332.2_Silent_p.G59G|MUTYH_ENST00000456914.2_Missense_Mutation_p.A147G|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372100.5_Missense_Mutation_p.A158G|MUTYH_ENST00000488731.2_Silent_p.G45G|MUTYH_ENST00000372110.3_Missense_Mutation_p.A162G|MUTYH_ENST00000448481.1_Missense_Mutation_p.A158G NM_001128425.1|NM_012222.2 NP_001121897.1|NP_036354.1 Q9UIF7 MUTYH_HUMAN mutY homolog 172 depurination|mismatch repair nucleoplasm 4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) GCCCAGGCCAGCCCAGAGTTG 0.577000 Mis colorectal Base excision repair (BER), DNA glycosylases MUTYH-associated polyposis 33 132 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32183145 32183145 + Missense_Mutation SNP G G T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:32183145G>T ENST00000375023.3 - 12 2017 c.1879C>A c.(1879-1881)Ccc>Acc p.P627T NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 627 EGF-like 16. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GCACACAGGGGAACCTCACAG 0.557000 3 14 2.56e-06 2.56661e-06 1 1 0 SEC14L5 9717 broad.mit.edu 37 16 5046880 5046880 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:5046880C>T ENST00000251170.7 + 8 985 c.805C>T c.(805-807)Cgg>Tgg p.R269W NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 269 integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 GCACATCCTTCGGTTCCTGCG 0.547000 14 15 0 0 1 0 0 DHRS7C 201140 broad.mit.edu 37 17 9680577 9680577 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:9680577C>T ENST00000330255.4 - 4 519 c.507G>A c.(505-507)cgG>cgA p.R169R DHRS7C_ENST00000571134.1_Silent_p.R168R NM_001220493.1 NP_001207422.1 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 169 extracellular region binding|oxidoreductase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 GGCCTGTTCTCCGGGAGATCA 0.458000 24 30 0 0 1 0 0 GBA3 57733 broad.mit.edu 37 4 22729163 22729163 + RNA SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:22729163G>A ENST00000508166.1 + 0 160 GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA NM_020973.4 NP_066024.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TCTCTGGAGTGATAGGCTTCT 0.448000 142 168 0 0 1 0 0 DIO2 1734 broad.mit.edu 37 14 80669068 80669068 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:80669068G>A ENST00000557010.1 - 4 1171 c.786C>T c.(784-786)ttC>ttT p.F262F DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000555750.1_Silent_p.F298F|DIO2_ENST00000438257.4_Silent_p.F262F NM_000793.5|NM_001242502.1|NM_001242503.1 NP_000784.2|NP_001229431.1|NP_001229432.1 Q92813 IOD2_HUMAN deiodinase, iodothyronine, type II 262 hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1) 25 BRCA - Breast invasive adenocarcinoma(234;0.0281) ATCTCTTGCTGAAATTCTTCT 0.383000 12 12 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f 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 38 43 0 0 1 0 0 AMDHD2 51005 broad.mit.edu 37 16 2577827 2577827 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:2577827G>A ENST00000302956.4 + 5 563 c.469G>A c.(469-471)Gag>Aag p.E157K AMDHD2_ENST00000413459.3_Missense_Mutation_p.E157K|AMDHD2_ENST00000293971.6_Missense_Mutation_p.E157K|ATP6C_ENST00000569317.1_Missense_Mutation_p.110_110insK|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000565570.1_Intron Q9Y303 NAGA_HUMAN amidohydrolase domain containing 2 157 N-acetylglucosamine metabolic process N-acetylglucosamine-6-phosphate deacetylase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2) 19 CGCGCACCCCGAGGCCCACCT 0.697000 11 17 0 0 1 0 0 COL9A2 1298 broad.mit.edu 37 1 40771393 40771393 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:40771393C>T ENST00000372748.3 - 21 1197 c.1101G>A c.(1099-1101)ggG>ggA p.G367G NM_001852.3 NP_001843.1 Q14055 CO9A2_HUMAN collagen, type IX, alpha 2 367 Triple-helical region 3 (COL3). axon guidance|skeletal system development collagen type IX endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) TTACCTCTTTCCCAGGGGGAC 0.617000 30 45 0 0 1 0 0 LDHAL6A 160287 broad.mit.edu 37 11 18498019 18498019 + Nonsense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:18498019G>A ENST00000280706.2 + 5 1478 c.681G>A c.(679-681)tgG>tgA p.W227* LDHAL6A_ENST00000396213.3_Nonsense_Mutation_p.W227*|TSG101_ENST00000536719.1_Intron NM_144972.4 NP_659409.2 Q6ZMR3 LDH6A_HUMAN lactate dehydrogenase A-like 6A 227 glycolysis cytoplasm binding|L-lactate dehydrogenase activity large_intestine(3)|lung(9)|urinary_tract(1) 13 NADH(DB00157) CTGAGCAGTGGGAAAATGTCC 0.418000 44 60 0 0 1 0 0 H2AFY2 55506 broad.mit.edu 37 10 71835473 71835473 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:71835473G>A ENST00000373255.4 + 2 323 c.59G>A c.(58-60)gGt>gAt p.G20D NM_018649.2 NP_061119.1 Q9P0M6 H2AW_HUMAN H2A histone family, member Y2 20 Histone H2A. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1) 15 GCTAGGGCAGGTGTCATCTTT 0.557000 30 8 0 0 1 0 0 PRKCQ 5588 broad.mit.edu 37 10 6527122 6527122 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:6527122C>T ENST00000263125.5 - 10 1109 c.1010G>A c.(1009-1011)gGa>gAa p.G337E PRKCQ_ENST00000539722.1_Missense_Mutation_p.G212E|PRKCQ_ENST00000397176.2_Missense_Mutation_p.G337E NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 337 axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 ACCTCTTTTTCCCGGTGTCGG 0.433000 74 23 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106116851 106116851 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:106116851C>T ENST00000357242.5 + 21 3193 c.3019C>T c.(3019-3021)Cct>Tct p.P1007S TBC1D8B_ENST00000276175.3_Missense_Mutation_p.P1001S NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 1007 intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TCATGAGGACCCTGAAGAAGA 0.368000 47 1 0 0 1 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67320515 67320515 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:67320515C>T ENST00000360461.5 + 15 5235 c.2700C>T c.(2698-2700)ttC>ttT p.F900F PLEKHG4_ENST00000450733.1_Silent_p.F819F|PLEKHG4_ENST00000427155.2_Silent_p.F900F|PLEKHG4_ENST00000379344.3_Silent_p.F900F NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 900 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) TTGTGCACTTCCAGCTGCGGC 0.662000 4 7 0 0 1 0 0 TRMT10B 158234 broad.mit.edu 37 9 37762051 37762051 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr9:37762051C>T ENST00000297994.3 + 2 188 c.123C>T c.(121-123)atC>atT p.I41I TRMT10B_ENST00000377754.2_5'UTR|TRMT10B_ENST00000377753.2_Silent_p.I41I|TRMT10B_ENST00000537911.1_Silent_p.I41I|RP11-613M10.9_ENST00000540557.1_Intron NM_144964.2 NP_659401.2 tRNA methyltransferase 10 homolog B (S. cerevisiae) TTCTGCAGATCGATGCGGAAG 0.567000 17 3 0 0 1 0 0 SORBS2 8470 broad.mit.edu 37 4 186544635 186544635 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:186544635G>A ENST00000431808.1 - 14 2499 c.1936C>T c.(1936-1938)Cac>Tac p.H646Y SORBS2_ENST00000418609.1_Missense_Mutation_p.H550Y|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.H646Y|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.H746Y|SORBS2_ENST00000393528.3_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 646 His-rich. 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) tggtggtggtggtgatggtgg 0.527000 45 59 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169511839 169511839 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:169511839G>A ENST00000367796.3 - 13 2705 c.2504C>T c.(2503-2505)cCa>cTa p.P835L F5_ENST00000367797.3_Missense_Mutation_p.P830L P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 830 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TTCAGAATATGGGCTGGAATG 0.488000 100 132 0 0 1 0 0 NEU2 4759 broad.mit.edu 37 2 233898955 233898955 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:233898955G>A ENST00000233840.3 + 2 331 c.331G>A c.(331-333)Gag>Aag p.E111K NM_005383.2 NP_005374.2 Q9Y3R4 NEUR2_HUMAN sialidase 2 (cytosolic sialidase) 111 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) GCAAGTCACGGAGCAACAGCA 0.627000 77 49 0 0 1 0 0 CLEC17A 388512 broad.mit.edu 37 19 14706128 14706128 + Splice_Site SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:14706128G>A ENST00000547437.1 + 8 522 c.e8+1 CLEC17A_ENST00000397439.2_Splice_Site|CLEC17A_ENST00000417570.1_Splice_Site NM_207390.3 NP_997273.3 Q6ZS10 CL17A_HUMAN C-type lectin domain family 17, member A cell surface|integral to membrane fucose binding|mannose binding|metal ion binding|receptor activity TCCCTGGCCGGTAAGTGTCCT 0.502000 104 141 0 0 1 0 0 UXT 8409 broad.mit.edu 37 X 47516988 47516988 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:47516988G>A ENST00000335890.2 - 3 420 c.267C>T c.(265-267)ttC>ttT p.F89F UXT_ENST00000333119.3_Silent_p.F77F NM_153477.2 NP_705582.1 Q9UBK9 UXT_HUMAN ubiquitously-expressed, prefoldin-like chaperone 77 centrosome organization|mitochondrion transport along microtubule|protein folding centrosome|nucleus|prefoldin complex beta-tubulin binding|microtubule binding|unfolded protein binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1) 6 TGTCAACGAAGAAGTTACAGC 0.498000 15 2 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75037945 75037945 + Missense_Mutation SNP T T G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:75037945T>G ENST00000326665.5 - 14 3667 c.3449A>C c.(3448-3450)aAa>aCa p.K1150T C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1150 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CACTGTCTCTTTTAGTGAATC 0.473000 39 57 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92523233 92523233 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:92523233G>A ENST00000298047.6 + 7 4477 c.4460G>A c.(4459-4461)aGa>aAa p.R1487K FAT3_ENST00000525166.1_Missense_Mutation_p.R1337K|FAT3_ENST00000409404.2_Missense_Mutation_p.R1487K Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1487 Cadherin 14. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GCCACAGATAGAGATGAGAAG 0.473000 TCGA Ovarian(4;0.039) 85 111 0 0 1 0 0 UGT2A3 79799 broad.mit.edu 37 4 69796478 69796478 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:69796478G>A ENST00000251566.4 - 5 1120 c.1090C>T c.(1090-1092)Ccc>Tcc p.P364S UGT2A3_ENST00000420231.2_Missense_Mutation_p.P75S NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 364 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TTGGTTTTGGGATGACCTAGT 0.358000 37 27 0 0 1 0 0 EEF1G 1937 broad.mit.edu 37 11 62327780 62327780 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:62327780G>A ENST00000378019.3 - 8 1244 c.1154C>T c.(1153-1155)aCc>aTc p.T385I EEF1G_ENST00000329251.4_Missense_Mutation_p.T335I|MIR3654_ENST00000496634.2_3'UTR P26641 EF1G_HUMAN eukaryotic translation elongation factor 1 gamma 335 EF-1-gamma C-terminal. response to virus cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GCTCATGAAGGTCTGAGTGAG 0.493000 17 18 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28276434 28276434 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:28276434C>T ENST00000305242.5 - 3 355 c.263G>A c.(262-264)gGa>gAa p.G88E NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 88 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 CAAAGGCTGTCCATTTTTATC 0.343000 6 31 0 0 1 0 0 AGXT2 64902 broad.mit.edu 37 5 35014124 35014124 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:35014124C>T ENST00000231420.6 - 10 1264 c.1064G>A c.(1063-1065)gGc>gAc p.G355D NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 355 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) CATGGGAAAGCCATTCCCAAT 0.527000 69 36 0 0 1 0 0 OR2A25 392138 broad.mit.edu 37 7 143771784 143771784 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:143771784C>T ENST00000408898.2 + 1 510 c.472C>T c.(472-474)Cat>Tat p.H158Y NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) GGCCCTTGTCCATCTAGTGTT 0.453000 86 106 0 0 1 0 0 EPHA10 284656 broad.mit.edu 37 1 38227207 38227207 + Nonsense_Mutation SNP G G T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:38227207G>T ENST00000373048.4 - 3 719 c.720C>A c.(718-720)tgC>tgA p.C240* EPHA10_ENST00000319637.6_Nonsense_Mutation_p.C240*|EPHA10_ENST00000427468.2_Nonsense_Mutation_p.C240* NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 240 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AGTGCGCCACGCACGTTCCGG 0.726000 18 25 8.28177e-16 8.35711e-16 1 1 0 CASK 8573 broad.mit.edu 37 X 41524605 41524605 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:41524605G>A ENST00000318588.9 - 7 678 c.633C>T c.(631-633)atC>atT p.I211I CASK_ENST00000378163.1_Silent_p.I211I|CASK_ENST00000378166.4_Silent_p.I211I|CASK_ENST00000378154.1_Silent_p.I211I|CASK_ENST00000421587.2_Silent_p.I211I|CASK_ENST00000442742.2_Silent_p.I211I|CASK_ENST00000378158.1_Silent_p.I211I|CASK_ENST00000361962.4_Silent_p.I211I O14936 CSKP_HUMAN calcium/calmodulin-dependent serine protein kinase (MAGUK family) 211 Protein kinase. cell adhesion actin cytoskeleton|cytoplasm|nucleus|plasma membrane ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1) 32 CACTGAGCAGGATAAAAAGGA 0.418000 13 2 0 0 1 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72685590 72685590 + RNA SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:72685590C>T ENST00000425256.1 - 0 68 NR_002164.1 ATTTCCGTTTCGCCCGAGTGG 0.433000 70 84 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561564 11561564 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:11561564C>T ENST00000294484.6 + 2 653 c.515C>T c.(514-516)cCc>cTc p.P172L PTCHD2_ENST00000389575.3_Missense_Mutation_p.P172L NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 172 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) TCCCGAGCCCCCCGCGTCATC 0.672000 20 18 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78399234 78399234 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:78399234G>A ENST00000278550.7 - 29 5587 c.5125C>T c.(5125-5127)Cct>Tct p.P1709S NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 TGGCCAGTAGGGAAGGTCACA 0.507000 80 124 0 0 1 0 0 DCLK3 85443 broad.mit.edu 37 3 36779975 36779975 + Missense_Mutation SNP G G C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:36779975G>C ENST00000416516.2 - 2 666 c.176C>G c.(175-177)aCc>aGc p.T59S NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 59 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 GCTCTTGGGGGTCTCGGTCTC 0.612000 60 83 0 0 1 0 0 SLC4A11 83959 broad.mit.edu 37 20 3211214 3211214 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr20:3211214G>A ENST00000380059.3 - 12 1592 c.1491C>T c.(1489-1491)ttC>ttT p.F497F SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Silent_p.F470F|SLC4A11_ENST00000539553.1_Silent_p.F454F NM_001174090.1 NP_001167561.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 470 Membrane (bicarbonate transporter). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 AAAGCGCAAGGAAGAAACTAT 0.547000 82 80 0 0 1 0 0 LARP1 23367 broad.mit.edu 37 5 154183801 154183801 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:154183801C>T ENST00000336314.4 + 14 2273 c.2249C>T c.(2248-2250)cCc>cTc p.P750L NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 827 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TCAAACCCACCCTTGGAGAGC 0.532000 22 104 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126411646 126411646 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:126411646G>A ENST00000394329.3 + 17 13682 c.13669G>A c.(13669-13671)Gat>Aat p.D4557N FAT4_ENST00000335110.5_Missense_Mutation_p.D2798N NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4557 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CGTTGCTTTTGATGACCCTGA 0.473000 50 67 0 0 1 0 0 ITFG3 83986 broad.mit.edu 37 16 314958 314958 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:314958G>A ENST00000399932.3 + 13 2047 c.1596G>A c.(1594-1596)ggG>ggA p.G532G ITFG3_ENST00000301678.3_Silent_p.G532G|ITFG3_ENST00000301679.2_Intron|ITFG3_ENST00000442458.2_Intron|ITFG3_ENST00000600536.1_Intron|ITFG3_ENST00000450082.2_Intron Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 532 integral to membrane central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) GTGAGGGTGGGCCAGACAGTG 0.662000 25 47 0 0 1 0 0 SLC4A7 9497 broad.mit.edu 37 3 27436502 27436502 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:27436502G>A ENST00000295736.5 - 19 2851 c.2781C>T c.(2779-2781)atC>atT p.I927I SLC4A7_ENST00000445684.1_Silent_p.I923I|SLC4A7_ENST00000446700.1_Silent_p.I919I|SLC4A7_ENST00000428386.1_Silent_p.I803I|SLC4A7_ENST00000388777.4_Silent_p.I477I|SLC4A7_ENST00000437179.1_Silent_p.I808I|SLC4A7_ENST00000435667.2_Silent_p.I812I|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000440156.1_Silent_p.I923I|SLC4A7_ENST00000454389.1_Silent_p.I936I|SLC4A7_ENST00000455077.1_Silent_p.I808I NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 927 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 GATCCATAAAGATGAGAATGG 0.383000 25 26 0 0 1 0 0 CDHR2 54825 broad.mit.edu 37 5 176008463 176008463 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:176008463G>A ENST00000510636.1 + 17 2212 c.1938G>A c.(1936-1938)ggG>ggA p.G646G CDHR2_ENST00000506348.1_Silent_p.G646G|CDHR2_ENST00000261944.5_Silent_p.G646G NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 646 Cadherin 6. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding p.G646G(1) breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 GAAACCTGGGGCCCCTGGACA 0.632000 18 37 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89400085 89400085 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr15:89400085C>T ENST00000439576.2 + 12 4643 c.4269C>T c.(4267-4269)gcC>gcT p.A1423A ACAN_ENST00000559004.1_Silent_p.A1423A|ACAN_ENST00000561243.1_Silent_p.A1423A|ACAN_ENST00000352105.7_Silent_p.A1423A NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1423 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) AGACTACTGCCCCTGGAGTAG 0.532000 122 175 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325190 150325190 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:150325190C>T ENST00000328902.5 - 3 712 c.496G>A c.(496-498)Gaa>Aaa p.E166K GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 166 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCCAGGTCTTCCTTCCGGGTG 0.627000 126 168 0 0 1 0 0 ZNF687 57592 broad.mit.edu 37 1 151259006 151259006 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:151259006C>T ENST00000368879.2 + 2 337 c.239C>T c.(238-240)tCt>tTt p.S80F NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 80 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CCAGACATTTCTGTAGTCAGT 0.602000 31 43 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179441255 179441255 + Splice_Site SNP C C G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:179441255C>G ENST00000589042.1 - 325 69940 c.e325+1 TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000460472.2_Splice_Site|TTN_ENST00000342175.6_Splice_Site NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAAATACTAACATGCTGCATC 0.398000 83 54 0 0 1 0 0 PRKAG3 53632 broad.mit.edu 37 2 219693314 219693314 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:219693314C>T ENST00000439262.2 - 5 663 c.568G>A c.(568-570)Gcc>Acc p.A190T PRKAG3_ENST00000392098.3_Missense_Mutation_p.A215T|PRKAG3_ENST00000529249.1_Missense_Mutation_p.A215T|PRKAG3_ENST00000545803.1_Missense_Mutation_p.A31T NM_017431.2 NP_059127.2 Q9UGI9 AAKG3_HUMAN protein kinase, AMP-activated, gamma 3 non-catalytic subunit 215 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCAAAGAAGGCCTTCTTGATC 0.627000 12 37 0 0 1 0 0 PDZD9 255762 broad.mit.edu 37 16 21995787 21995787 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:21995787C>T ENST00000286143.6 - 5 731 c.410G>A c.(409-411)gGa>gAa p.G137E PDZD9_ENST00000424898.2_Missense_Mutation_p.G199E|PDZD9_ENST00000537222.2_Missense_Mutation_p.G139E Q8IXQ8 PDZD9_HUMAN PDZ domain containing 9 199 breast(3)|endometrium(2)|lung(3)|pancreas(1) 9 AATGTCTTTTCCTACACTAAT 0.433000 69 81 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111603475 111603475 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:111603475C>T ENST00000431670.2 + 2 962 c.551C>T c.(550-552)tCc>tTc p.S184F PHLDB2_ENST00000477695.1_Missense_Mutation_p.S184F|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S211F|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S184F|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S184F|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S184F|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S184F NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 184 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 AATGGAAGTTCCCTGAGTGAT 0.547000 31 37 0 0 1 0 0 MAGEB3 4114 broad.mit.edu 37 X 30254404 30254404 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:30254404C>T ENST00000361644.2 + 5 1100 c.363C>T c.(361-363)ttC>ttT p.F121F MAGEB3_ENST00000378986.1_Silent_p.F121F NM_002365.4 NP_002356.2 O15480 MAGB3_HUMAN melanoma antigen family B, 3 121 MAGE. NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 25 TGGTGCAGTTCCTGATGGAAA 0.393000 37 5 0 0 1 0 0 MCHR2 84539 broad.mit.edu 37 6 100395759 100395759 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:100395759G>A ENST00000281806.2 - 3 585 c.271C>T c.(271-273)Cac>Tac p.H91Y MCHR2_ENST00000445970.1_Missense_Mutation_p.H91Y|MCHR2_ENST00000369212.1_Missense_Mutation_p.H91Y NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 91 integral to membrane|plasma membrane G-protein coupled receptor activity p.H91Y(2) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) GCCCATTGGTGAATAAGAAAA 0.483000 48 54 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70071292 70071292 + Missense_Mutation SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:70071292T>C ENST00000370598.1 + 29 4948 c.4127T>C c.(4126-4128)tTg>tCg p.L1376S BAI3_ENST00000238918.8_Missense_Mutation_p.L582S|BAI3_ENST00000546190.1_Missense_Mutation_p.L340S NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1376 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) ATGCAGAATTTGCCCTTTGAA 0.418000 58 48 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158637763 158637763 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:158637763C>T ENST00000368148.3 - 15 2103 c.1923G>A c.(1921-1923)caG>caA p.Q641Q SPTA1_ENST00000368147.3_Silent_p.Q641Q NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 641 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GGCCAGTTTTCTGTATGTTTT 0.473000 55 84 0 0 1 0 0 PTBP1 5725 broad.mit.edu 37 19 805537 805537 + Missense_Mutation SNP T T A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:805537T>A ENST00000356948.6 + 9 1361 c.938T>A c.(937-939)tTc>tAc p.F313Y PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Missense_Mutation_p.F306Y|PTBP1_ENST00000349038.4_Intron NM_002819.4 NP_002810.1 P26599 PTBP1_HUMAN polypyrimidine tract binding protein 1 297 negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4) 19 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) GGAGCTGGTTTCCCTCCCACC 0.562000 75 128 0 0 1 0 0 ANKRD22 118932 broad.mit.edu 37 10 90588368 90588368 + Missense_Mutation SNP T T A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:90588368T>A ENST00000371930.4 - 3 479 c.269A>T c.(268-270)tAt>tTt p.Y90F NM_144590.2 NP_653191.2 Q5VYY1 ANR22_HUMAN ankyrin repeat domain 22 90 NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3) 10 Colorectal(252;0.0163) Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05) AATTAGTAGATAATCAATGAA 0.338000 83 16 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56297162 56297162 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:56297162G>A ENST00000443188.1 - 12 3641 c.2931C>T c.(2929-2931)atC>atT p.I977I NLRP11_ENST00000589093.1_Silent_p.I977I|NLRP11_ENST00000360133.3_Silent_p.I923I|NLRP11_ENST00000592953.1_Silent_p.I878I|NLRP11_ENST00000589824.2_Silent_p.I923I NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 977 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CAGACAGAAAGATCAAACTGG 0.418000 43 52 0 0 1 0 0 ZNF525 170958 broad.mit.edu 37 19 53885229 53885229 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:53885229C>T ENST00000467003.1 + 4 1490 c.1289C>T c.(1288-1290)cCt>cTt p.P430L ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000355326.3_Missense_Mutation_p.P184L|ZNF525_ENST00000474037.1_Missense_Mutation_p.P466L zinc finger protein 525 endometrium(3)|kidney(3)|lung(3) 9 GGAGAGAAACCTTGCAAGTGT 0.373000 15 22 0 0 1 0 0 SUPT5H 6829 broad.mit.edu 37 19 39963692 39963692 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:39963692C>T ENST00000599117.1 + 24 2563 c.2196C>T c.(2194-2196)gcC>gcT p.A732A SUPT5H_ENST00000402194.2_Silent_p.A728A|SUPT5H_ENST00000432763.2_Silent_p.A732A|SUPT5H_ENST00000359191.6_Silent_p.A728A|SUPT5H_ENST00000598725.1_Silent_p.A732A O00267 SPT5H_HUMAN suppressor of Ty 5 homolog (S. cerevisiae) 732 KOW 5. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity p.A732A(1) breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) AGTCCACGGCCCGTGTGGAGC 0.677000 29 54 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138452990 138452990 + Nonsense_Mutation SNP C C A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:138452990C>A ENST00000344876.4 - 1 639 c.253G>T c.(253-255)Gaa>Taa p.E85* PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Nonsense_Mutation_p.E85*|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 85 Cadherin 1. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) ATGCTGATTTCCCCATTATCC 0.433000 66 129 1.85135e-42 1.88411e-42 1 1 0 DAAM1 23002 broad.mit.edu 37 14 59797987 59797987 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:59797987C>T ENST00000395125.1 + 13 1644 c.1621C>T c.(1621-1623)Cct>Tct p.P541S DAAM1_ENST00000351081.1_Missense_Mutation_p.P541S|DAAM1_ENST00000360909.3_Missense_Mutation_p.P541S NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 541 FH1.|Pro-rich. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) AGGGCCCTTTCCTTCCTCTGT 0.592000 24 85 0 0 1 0 0 PDE7B 27115 broad.mit.edu 37 6 136476860 136476860 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:136476860G>A ENST00000308191.6 + 8 978 c.675G>A c.(673-675)ttG>ttA p.L225L RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA NM_018945.3 NP_061818.1 Q9NP56 PDE7B_HUMAN phosphodiesterase 7B 225 Catalytic (By similarity). signal transduction|synaptic transmission cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Colorectal(23;0.24) OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147) Dyphylline(DB00651)|Ketotifen(DB00920) AGCCATTTTTGATAAAAACTA 0.542000 25 21 0 0 1 0 0 CORT 1325 broad.mit.edu 37 1 10510203 10510203 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:10510203C>T ENST00000320498.4 + 1 233 c.73C>T c.(73-75)Ccc>Tcc p.P25S APITD1-CORT_ENST00000465026.1_Intron|APITD1_ENST00000602296.1_Intron|CORT_ENST00000377049.3_5'UTR|APITD1-CORT_ENST00000400900.2_Intron|APITD1-CORT_ENST00000470413.2_Intron|APITD1_ENST00000602787.1_Intron cortistatin breast(1)|endometrium(1)|stomach(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487) GACCCAAGTCCCCAAAACATT 0.522000 90 155 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162421170 162421170 + Nonsense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:162421170G>A ENST00000306100.5 - 12 1892 c.1456C>T c.(1456-1458)Cag>Tag p.Q486* FSTL5_ENST00000427802.2_Nonsense_Mutation_p.Q476*|FSTL5_ENST00000379164.4_Nonsense_Mutation_p.Q485*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.Q485* NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 486 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) ATACTTGCCTGAAATCCAAGG 0.318000 10 15 0 0 1 0 0 FCRL4 83417 broad.mit.edu 37 1 157557280 157557280 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:157557280G>A ENST00000271532.1 - 5 768 c.633C>T c.(631-633)agC>agT p.S211S FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 211 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) GTGTTTCACAGCTCAGGTTTA 0.502000 92 102 0 0 1 0 0 MIER1 57708 broad.mit.edu 37 1 67428787 67428787 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:67428787C>T ENST00000357692.2 + 9 865 c.608C>T c.(607-609)tCc>tTc p.S203F MIER1_ENST00000371014.1_Missense_Mutation_p.S239F|MIER1_ENST00000371018.3_Missense_Mutation_p.S203F|MIER1_ENST00000401042.3_Missense_Mutation_p.S186F|MIER1_ENST00000355356.3_Missense_Mutation_p.S186F|MIER1_ENST00000355977.6_Missense_Mutation_p.S123F|MIER1_ENST00000371016.1_Missense_Mutation_p.S203F|MIER1_ENST00000401041.1_Missense_Mutation_p.S239F NM_001146110.1 NP_001139582.1 Q8N108 MIER1_HUMAN mesoderm induction early response 1, transcriptional regulator 210 Glu-rich. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3) 15 ATGGTGGGCTCCATGTTTCAA 0.308000 21 31 0 0 1 0 0 ARSG 22901 broad.mit.edu 37 17 66391313 66391313 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:66391313C>T ENST00000448504.2 + 10 1987 c.1191C>T c.(1189-1191)ggC>ggT p.G397G ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Silent_p.G233G NM_014960.4 NP_055775.2 Q96EG1 ARSG_HUMAN arylsulfatase G 397 sulfur compound metabolic process endoplasmic reticulum|extracellular space|lysosome arylsulfatase activity|metal ion binding NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 26 BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) TGCTCTTTGGCCGGTCACAGC 0.587000 41 63 0 0 1 0 0 NCAPG 64151 broad.mit.edu 37 4 17839387 17839387 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:17839387G>A ENST00000251496.2 + 16 2605 c.2429G>A c.(2428-2430)gGa>gAa p.G810E NM_022346.3 NP_071741.2 Q9BPX3 CND3_HUMAN non-SMC condensin I complex, subunit G 810 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 27 STAD - Stomach adenocarcinoma(129;0.18) AGACCAAGTGGATTAAATCCT 0.418000 74 86 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63970294 63970294 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr15:63970294C>T ENST00000443617.2 - 37 6907 c.6820G>A c.(6820-6822)Gag>Aag p.E2274K RP11-317G6.1_ENST00000559303.2_RNA NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 2274 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 TCTTTGCTCTCCTTCTCCTCT 0.473000 29 30 0 0 1 0 0 LMOD2 442721 broad.mit.edu 37 7 123302538 123302538 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:123302538G>A ENST00000458573.2 + 2 1055 c.898G>A c.(898-900)Gag>Aag p.E300K LMOD2_ENST00000456238.2_Intron NM_207163.1 NP_997046.1 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 300 cytoskeleton actin binding|tropomyosin binding GGTGCTCACGGAGCTGCGTTT 0.537000 49 53 0 0 1 0 0 TCERG1 10915 broad.mit.edu 37 5 145886624 145886624 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:145886624C>T ENST00000296702.5 + 19 2802 c.2764C>T c.(2764-2766)Cgt>Tgt p.R922C TCERG1_ENST00000394421.2_Missense_Mutation_p.R901C NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 922 FF 4. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTCTGATACTCGTAGGACCCT 0.393000 44 118 0 0 1 0 0 ITGA7 3679 broad.mit.edu 37 12 56094071 56094071 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:56094071G>A ENST00000257880.7 - 5 996 c.777C>T c.(775-777)atC>atT p.I259I ITGA7_ENST00000257879.6_Intron|ITGA7_ENST00000394229.2_Intron|ITGA7_ENST00000553804.1_Silent_p.I259I|ITGA7_ENST00000394230.2_Silent_p.I259I|ITGA7_ENST00000555728.1_Silent_p.I259I|ITGA7_ENST00000347027.6_Intron|ITGA7_ENST00000452168.2_Silent_p.I162I Q13683 ITA7_HUMAN integrin, alpha 7 259 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CAGGGACCGGGATGAGGCGGG 0.647000 11 14 0 0 1 0 0 GABRG2 2566 broad.mit.edu 37 5 161524644 161524644 + Splice_Site SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:161524644G>A ENST00000356592.3 + 4 788 c.327_splice c.e4-1 p.E110_splice GABRG2_ENST00000414552.2_Splice_Site_p.E110_splice|GABRG2_ENST00000361925.4_Splice_Site_p.E110_splice|GABRG2_ENST00000393933.4_Splice_Site_p.E15_splice NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 110 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) ATTAAAACAGGAATACACTAT 0.313000 33 27 0 0 1 0 0 GPATCH1 55094 broad.mit.edu 37 19 33592450 33592450 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:33592450C>T ENST00000170564.2 + 9 1364 c.1050C>T c.(1048-1050)tcC>tcT p.S350S NM_018025.2 NP_060495.2 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 350 catalytic step 2 spliceosome nucleic acid binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) ATGGATTTTCCTTGGCTTCTA 0.303000 20 37 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26286821 26286821 + Missense_Mutation SNP C C G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr22:26286821C>G ENST00000335473.7 + 26 4663 c.4413C>G c.(4411-4413)ttC>ttG p.F1471L CTA-125H2.2_ENST00000600211.1_RNA|MYO18B_ENST00000407587.2_Missense_Mutation_p.F1472L|CTA-125H2.2_ENST00000453457.2_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.F1471L NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1471 Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 TACAGGCCTTCCGGGAGGTCC 0.607000 19 17 0 0 1 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216483 20216483 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:20216483G>A ENST00000331723.1 + 1 897 c.897G>A c.(895-897)atG>atA p.M299I NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGACAGCTATGAAGAAGCTGA 0.388000 21 29 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61619602 61619602 + Splice_Site SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:61619602G>A ENST00000583023.1 + 9 1966 c.1954_splice c.e9-1 p.G652_splice KCNH6_ENST00000456941.2_Splice_Site_p.G599_splice|KCNH6_ENST00000581784.1_Splice_Site_p.G599_splice|KCNH6_ENST00000314672.5_Splice_Site_p.G652_splice NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 652 regulation of transcription, DNA-dependent|signal transduction p.G652E(1) breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) TGGCTGGCAGGAAAGAATGAC 0.587000 30 44 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152697585 152697585 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:152697585G>A ENST00000367255.5 - 58 9856 c.9255C>T c.(9253-9255)atC>atT p.I3085I SYNE1_ENST00000265368.4_Silent_p.I3085I|SYNE1_ENST00000423061.1_Silent_p.I3092I|SYNE1_ENST00000341594.5_Silent_p.I3124I|SYNE1_ENST00000448038.1_Silent_p.I3092I NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3085 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGGCGGTAGTGATTTTTGCAT 0.378000 HNSCC(10;0.0054) 40 25 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644336 53644336 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:53644336G>A ENST00000452676.2 - 5 2174 c.1748C>T c.(1747-1749)tCa>tTa p.S583L ZNF347_ENST00000334197.7_Missense_Mutation_p.S582L|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.S583L NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 582 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) TGCAAGGTGTGAATTCTGAGT 0.408000 100 138 0 0 1 0 0 KRTAP4-12 83755 broad.mit.edu 37 17 39280338 39280338 + Nonsense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:39280338G>A ENST00000394014.1 - 1 81 c.37C>T c.(37-39)Cag>Tag p.Q13* NM_031854.2 NP_114060.1 Q9BQ66 KR412_HUMAN keratin associated protein 4-12 13 31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) CCACAGCCCTGGTCAGAGCAC 0.612000 67 95 0 0 1 0 0 TUSC3 7991 broad.mit.edu 37 8 15398068 15398068 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:15398068G>A ENST00000382020.4 + 1 337 c.129G>A c.(127-129)aaG>aaA p.K43K TUSC3_ENST00000509380.1_Silent_p.K43K|TUSC3_ENST00000506802.1_Silent_p.K43K|TUSC3_ENST00000503731.1_Silent_p.K43K|TUSC3_ENST00000503191.1_Intron NM_178234.2 NP_839952.1 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 43 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2) 28 Colorectal(111;0.113) GAGGACAGAAGAAAAAGGAGG 0.677000 25 10 0 0 1 0 0 GIPC1 10755 broad.mit.edu 37 19 14591413 14591413 + Missense_Mutation SNP A A C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:14591413A>C ENST00000393033.4 - 5 735 c.466T>G c.(466-468)Ttc>Gtc p.F156V GIPC1_ENST00000393029.3_Missense_Mutation_p.F59V|GIPC1_ENST00000591349.1_Missense_Mutation_p.F59V|GIPC1_ENST00000393028.1_Missense_Mutation_p.F59V|GIPC1_ENST00000586027.1_Missense_Mutation_p.F156V|GIPC1_ENST00000345425.2_Missense_Mutation_p.F156V NM_005716.3 NP_005707.1 O14908 GIPC1_HUMAN GIPC PDZ domain containing family, member 1 156 PDZ. endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 ACCTTGATGAAGGCGTAGCCA 0.662000 OREG0025316 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 62 56 0 0 1 0 0 TRIM29 23650 broad.mit.edu 37 11 119988939 119988939 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:119988939G>A ENST00000341846.5 - 7 2040 c.1619C>T c.(1618-1620)tCc>tTc p.S540F TRIM29_ENST00000525887.1_5'UTR|TRIM29_ENST00000524816.3_Missense_Mutation_p.S106F|TRIM29_ENST00000529044.1_Missense_Mutation_p.S279F|TRIM29_ENST00000528870.1_Missense_Mutation_p.S73F|TRIM29_ENST00000541857.1_Missense_Mutation_p.S273F NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 540 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) ACCTTTCAGGGAGAAGGAGGA 0.602000 16 14 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135430955 135430955 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:135430955C>T ENST00000394143.1 + 6 5381 c.5090C>T c.(5089-5091)tCa>tTa p.S1697L GPR112_ENST00000287534.4_Missense_Mutation_p.S1634L|GPR112_ENST00000412101.1_Missense_Mutation_p.S1492L|GPR112_ENST00000394141.1_Missense_Mutation_p.S1492L|GPR112_ENST00000370652.1_Missense_Mutation_p.S1697L NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1697 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ACCACATTTTCACCATTTCTA 0.448000 102 10 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 107012560 107012560 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:107012560C>T ENST00000369701.3 + 23 3360 c.3133C>T c.(3133-3135)Ctc>Ttc p.L1045F NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 1045 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GGACCAGATCCTCATTGCCGT 0.527000 48 12 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4878583 4878583 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:4878583G>A ENST00000354582.6 + 60 8459 c.8109G>A c.(8107-8109)acG>acA p.T2703T ITPR1_ENST00000357086.4_Silent_p.T2670T|ITPR1_ENST00000544951.1_Silent_p.T681T|ITPR1_ENST00000456211.2_Silent_p.T2655T|ITPR1_ENST00000443694.2_Silent_p.T2703T|ITPR1_ENST00000302640.8_Silent_p.T2703T|ITPR1_ENST00000423119.2_Silent_p.T2670T|AC018816.3_ENST00000441894.1_Intron|AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000463980.1_3'UTR Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 2718 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding p.T2703T(1)|p.T2670T(1)|p.T2655T(1) NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) AACTTGTCACGAACCTTTCTG 0.502000 11 21 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38903998 38903998 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:38903998C>T ENST00000274276.3 + 8 1408 c.1006C>T c.(1006-1008)Cct>Tct p.P336S NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 336 Fibronectin type-III 1. cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) TTTAATGAATCCTTTTAGTGT 0.299000 8 25 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9066367 9066367 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:9066367C>T ENST00000397910.4 - 3 21282 c.21079G>A c.(21079-21081)Gaa>Aaa p.E7027K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7029 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATGGTCATTTCTGCTGATTCT 0.498000 98 136 0 0 1 0 0 HIRA 7290 broad.mit.edu 37 22 19396038 19396038 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr22:19396038G>A ENST00000263208.5 - 3 435 c.179C>T c.(178-180)cCc>cTc p.P60L HIRA_ENST00000464189.1_5'UTR|HIRA_ENST00000546308.1_Missense_Mutation_p.P16L|HIRA_ENST00000340170.4_Missense_Mutation_p.P60L|HIRA_ENST00000541063.1_Missense_Mutation_p.P16L NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 60 chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) AAGCATCTTGGGAATATTTTC 0.483000 47 34 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120599834 120599834 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:120599834G>A ENST00000300648.6 - 21 2204 c.2192C>T c.(2191-2193)tCc>tTc p.S731F NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 731 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CGACAGGACGGAAAGGGAGCC 0.617000 13 21 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110453598 110453598 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:110453598G>A ENST00000378402.5 + 34 4298 c.4194G>A c.(4192-4194)ggG>ggA p.G1398G NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1398 IPT/TIG 7. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CCAACAATGGGAAAGATTCAG 0.289000 HNSCC(38;0.096) 14 13 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117696239 117696239 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:117696239C>T ENST00000317775.6 - 16 3179 c.2494G>A c.(2494-2496)Gaa>Aaa p.E832K NOS1_ENST00000338101.4_Missense_Mutation_p.E832K|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 832 Flavodoxin-like. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TGCCTCATTTCCATCAAAGCA 0.498000 4 22 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89058988 89058988 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:89058988C>T ENST00000286614.6 - 9 1679 c.1398G>A c.(1396-1398)atG>atA p.M466I NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 466 Hemopexin-like 3. collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 CCATTGTTTTCATTTCTTCAC 0.368000 45 62 0 0 1 0 0 UGT2B10 7365 broad.mit.edu 37 4 69682021 69682021 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:69682021G>A ENST00000265403.7 + 1 311 c.284G>A c.(283-285)aGa>aAa p.R95K UGT2B10_ENST00000458688.2_Missense_Mutation_p.R95K NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 95 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 TTGGTTAAGAGATTGTCAGAA 0.308000 43 70 0 0 1 0 0 PASD1 139135 broad.mit.edu 37 X 150832782 150832782 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:150832782G>A ENST00000370357.4 + 11 1278 c.1033G>A c.(1033-1035)Gac>Aac p.D345N NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 345 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) GGATCCAGAGGACTCAGTGGA 0.592000 38 2 0 0 1 0 0 PHKG1 5260 broad.mit.edu 37 7 56149894 56149894 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:56149894C>T ENST00000452681.2 - 8 845 c.696G>A c.(694-696)atG>atA p.M232I PHKG1_ENST00000537360.1_Missense_Mutation_p.M146I|PHKG1_ENST00000297373.2_Missense_Mutation_p.M200I NM_001258459.1 NP_001245388.1 Q16816 PHKG1_HUMAN phosphorylase kinase, gamma 1 (muscle) 200 Protein kinase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity endometrium(1)|large_intestine(1)|lung(5) 7 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GGTCCTCATTCATGGAGCACT 0.607000 40 69 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12125433 12125433 + Missense_Mutation SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:12125433T>C ENST00000379388.2 + 4 5737 c.5405T>C c.(5404-5406)gTt>gCt p.V1802A NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1802 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GTGAGACAGGTTTGTACTACA 0.398000 50 166 0 0 1 0 0 RIT2 6014 broad.mit.edu 37 18 40503664 40503664 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr18:40503664G>A ENST00000589109.1 - 4 470 c.299C>T c.(298-300)tCc>tTc p.S100F RIT2_ENST00000590910.1_Missense_Mutation_p.P121S|RIT2_ENST00000326695.5_Missense_Mutation_p.S100F|RIT2_ENST00000282028.4_Missense_Mutation_p.S100F NM_001272077.1 NP_001259006.1 Q99578 RIT2_HUMAN Ras-like without CAAX 2 100 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GTCAGTGACGGAGTAGCAGAT 0.478000 135 158 0 0 1 0 0 PSG5 5673 broad.mit.edu 37 19 43683098 43683098 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:43683098G>A ENST00000599812.1 - 3 737 c.642C>T c.(640-642)ccC>ccT p.P214P PSG5_ENST00000404580.1_Intron|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000342951.6_Intron|PSG5_ENST00000366175.3_Intron|PSG5_ENST00000407356.1_Intron Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 119 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) CACATTCATAGGGTCCTGCAA 0.502000 131 246 0 0 1 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42279460 42279460 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr15:42279460G>A ENST00000399518.3 - 17 2431 c.1945C>T c.(1945-1947)Cgg>Tgg p.R649W CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.R620W NM_001206670.1 NP_001193599.1 Q3MJ16 PA24E_HUMAN phospholipase A2, group IVE 637 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) ACGAAGGACCGATGGGTAAGG 0.517000 36 8 0 0 1 0 0 GPR88 54112 broad.mit.edu 37 1 101004699 101004699 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:101004699C>T ENST00000315033.4 + 2 616 c.177C>T c.(175-177)ttC>ttT p.F59F NM_022049.2 NP_071332.2 Q9GZN0 GPR88_HUMAN G protein-coupled receptor 88 59 integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(2)|skin(1) 3 all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171) Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189) TGTCGTCCTTCCGAAAGCTGC 0.682000 9 21 0 0 1 0 0 MPZL1 9019 broad.mit.edu 37 1 167742490 167742490 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:167742490C>T ENST00000359523.2 + 4 692 c.490C>T c.(490-492)Cca>Tca p.P164S MPZL1_ENST00000474859.1_Missense_Mutation_p.P164S|MPZL1_ENST00000392121.3_Intron NM_003953.5|NM_024569.4 NP_003944.1|NP_078845.3 O95297 MPZL1_HUMAN myelin protein zero-like 1 164 cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane protein binding|structural molecule activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2) 15 all_hematologic(923;0.215) GCCTGTGTTTCCAGTTTGGGT 0.388000 59 83 0 0 1 0 0 SERTAD3 29946 broad.mit.edu 37 19 40947745 40947745 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:40947745G>A ENST00000322354.3 - 2 739 c.243C>T c.(241-243)ccC>ccT p.P81P SERTAD3_ENST00000392028.4_Silent_p.P81P NM_203344.2 NP_976219.1 Q9UJW9 SRTD3_HUMAN SERTA domain containing 3 81 negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding kidney(1)|large_intestine(4)|lung(2) 7 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCAGGAAGAGGGGCTCGGGGG 0.642000 31 29 0 0 1 0 0 CD22 933 broad.mit.edu 37 19 35823575 35823575 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:35823575G>A ENST00000085219.5 + 3 226 c.160G>A c.(160-162)Gaa>Aaa p.E54K CD22_ENST00000595419.1_3'UTR|CD22_ENST00000536635.2_Missense_Mutation_p.E54K|CD22_ENST00000270311.6_5'UTR|CD22_ENST00000419549.2_5'UTR|CD22_ENST00000341773.6_Missense_Mutation_p.E54K|CD22_ENST00000544992.2_Missense_Mutation_p.E54K|CD22_ENST00000594250.1_Missense_Mutation_p.E54K NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 54 Ig-like V-type. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) TGGTGACCTGGAAAGCTTCAT 0.507000 48 55 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124402732 124402732 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:124402732C>T ENST00000368909.3 + 53 7166 c.7060C>T c.(7060-7062)Ccc>Tcc p.P2354S DMBT1_ENST00000368955.3_Missense_Mutation_p.P2344S|DMBT1_ENST00000359586.6_Missense_Mutation_p.P1074S|DMBT1_ENST00000330163.4_Missense_Mutation_p.P1726S|DMBT1_ENST00000368956.2_Missense_Mutation_p.P1726S|DMBT1_ENST00000344338.3_Missense_Mutation_p.P2344S|DMBT1_ENST00000338354.3_Missense_Mutation_p.P2354S NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2354 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GAACCGCTTCCCCTCCGTGTA 0.587000 52 9 0 0 1 0 0 PTPRN 5798 broad.mit.edu 37 2 220156203 220156203 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:220156203G>A ENST00000295718.2 - 20 2958 c.2718C>T c.(2716-2718)atC>atT p.I906I PTPRN_ENST00000423636.2_Silent_p.I816I|PTPRN_ENST00000409251.3_Silent_p.I877I|PTPRN_ENST00000497977.1_5'UTR NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 906 Tyrosine-protein phosphatase. response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) TGCAGTGCACGATGATGGGGC 0.597000 24 53 0 0 1 0 0 GFPT2 9945 broad.mit.edu 37 5 179729488 179729488 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:179729488C>T ENST00000253778.8 - 18 2108 c.1939G>A c.(1939-1941)Ggc>Agc p.G647S NM_005110.2 NP_005101.1 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 647 SIS 2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) CTCAGGATGCCCTGGAGGCAG 0.532000 51 39 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101549045 101549045 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr15:101549045C>T ENST00000284395.5 + 8 1157 c.757C>T c.(757-759)Ctc>Ttc p.L253F LRRK1_ENST00000388948.3_Missense_Mutation_p.L256F Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 256 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CCACCAGGCTCTCCGTGTGAA 0.532000 OREG0023521 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 31 0 0 1 0 0 SAMD7 344658 broad.mit.edu 37 3 169644879 169644879 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:169644879G>A ENST00000428432.2 + 6 1218 c.829G>A c.(829-831)Gat>Aat p.D277N SAMD7_ENST00000335556.3_Missense_Mutation_p.D277N NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 277 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) GGCCTGGGACGATGGGAAAGA 0.567000 35 56 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89480345 89480345 + Nonsense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:89480345C>T ENST00000336596.2 + 13 2407 c.2182C>T c.(2182-2184)Cga>Tga p.R728* EPHA3_ENST00000494014.1_Nonsense_Mutation_p.R728* NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 728 Protein kinase. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GGGGATGCTTCGAGGGATAGC 0.433000 TSP Lung(6;0.00050) 29 33 0 0 1 0 0 TPRG1 285386 broad.mit.edu 37 3 188925281 188925281 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:188925281G>A ENST00000345063.3 + 2 275 c.108G>A c.(106-108)ccG>ccA p.P36P TPRG1_ENST00000433971.1_Silent_p.P36P NM_198485.3 NP_940887.1 Q6ZUI0 TPRG1_HUMAN tumor protein p63 regulated 1 36 p.P36P(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1) 16 all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925) all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255) Lung(62;6.93e-06) GBM - Glioblastoma multiforme(93;4.77e-14) AAGAGGACCCGATGCCAAGAC 0.478000 60 57 0 0 1 0 0 NLRP10 338322 broad.mit.edu 37 11 7981752 7981752 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:7981752G>A ENST00000328600.2 - 2 1568 c.1407C>T c.(1405-1407)ttC>ttT p.F469F NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 469 NACHT. ATP binding p.F469F(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AAAAGTCCTGGAAGCTGATGT 0.512000 66 81 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54735297 54735297 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:54735297G>A ENST00000306858.7 + 2 369 c.253G>A c.(253-255)Gat>Aat p.D85N NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 85 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TTCCTGTGATGATACCTTATC 0.433000 62 77 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47913603 47913603 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:47913603C>T ENST00000289672.2 - 24 3840 c.3790G>A c.(3790-3792)Gtt>Att p.V1264I NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1264 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 TCAGTGGAAACCATGACTGTG 0.512000 17 11 0 0 1 0 0 KLF3 51274 broad.mit.edu 37 4 38696384 38696384 + Missense_Mutation SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:38696384T>C ENST00000261438.5 + 5 1018 c.713T>C c.(712-714)aTc>aCc p.I238T NM_016531.5 NP_057615.3 P57682 KLF3_HUMAN Kruppel-like factor 3 (basic) 238 Pro-rich. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 CCTTCGGTCATCGTGCAGCCT 0.463000 75 81 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34125558 34125558 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:34125558C>T ENST00000297161.2 + 14 1973 c.1599C>T c.(1597-1599)ttC>ttT p.F533F BMPER_ENST00000426693.1_Silent_p.F533F NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 533 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 CCAATGAGTTCTGCAACAGAC 0.473000 38 56 0 0 1 0 0 PYGM 5837 broad.mit.edu 37 11 64514754 64514754 + Missense_Mutation SNP A A T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:64514754A>T ENST00000164139.3 - 18 2652 c.2254T>A c.(2254-2256)Tcc>Acc p.S752T PYGM_ENST00000377432.3_Missense_Mutation_p.S664T NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 752 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) TGTTTGGGGGAGAAGAAGCCA 0.577000 43 64 0 0 1 0 0 IDO1 3620 broad.mit.edu 37 8 39780114 39780114 + Missense_Mutation SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:39780114A>G ENST00000518237.1 + 6 1120 c.481A>G c.(481-483)Aaa>Gaa p.K161E IDO1_ENST00000522495.1_Missense_Mutation_p.K161E|RP11-44K6.3_ENST00000517623.1_RNA NM_002164.5 NP_002155.1 P14902 I23O1_HUMAN indoleamine 2,3-dioxygenase 1 161 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) AGACTGCAGTAAAGGATTCTT 0.368000 38 9 0 0 1 0 0 CSHL1 1444 broad.mit.edu 37 17 61988214 61988214 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:61988214G>A ENST00000392824.4 - 2 142 c.81C>T c.(79-81)gtC>gtT p.V27V CSHL1_ENST00000309894.5_Silent_p.V27V|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000346606.6_Intron Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 27 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 GAACGGTTTGGACGGCACCAG 0.582000 55 79 0 0 1 0 0 UGT1A10 54575 broad.mit.edu 37 2 234545374 234545374 + Missense_Mutation SNP C C T rs146289100 byFrequency TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:234545374C>T ENST00000344644.5 + 1 275 c.206C>T c.(205-207)tCa>tTa p.S69L UGT1A10_ENST00000373445.1_Missense_Mutation_p.S69L|UGT1A8_ENST00000373450.4_Intron NM_019075.2 NP_061948.1 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3) 32 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;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) CTGGAAAGATCACTGAATTGC 0.498000 138 90 0 0 1 0 0 IFT172 26160 broad.mit.edu 37 2 27680737 27680737 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:27680737G>A ENST00000260570.3 - 28 3185 c.3082C>T c.(3082-3084)Ctc>Ttc p.L1028F NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 1028 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) GTATCACTGAGGAGATCTGGA 0.517000 36 42 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118353182 118353182 + Missense_Mutation SNP T T G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:118353182T>G ENST00000534358.1 + 8 4081 c.4058T>G c.(4057-4059)aTc>aGc p.I1353S KMT2A_ENST00000389506.5_Missense_Mutation_p.I1353S|KMT2A_ENST00000354520.4_Missense_Mutation_p.I1353S|KMT2A_ENST00000420751.2_Intron NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A CGCCCAAGTATCCCTGTAAAA 0.403000 11 80 0 0 1 0 0 PTH1R 5745 broad.mit.edu 37 3 46944016 46944016 + Splice_Site SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:46944016G>A ENST00000449590.1 + 14 1415 c.1211_splice c.e14-1 p.R404_splice PTH1R_ENST00000418619.1_Splice_Site_p.R404_splice|PTH1R_ENST00000430002.2_Splice_Site_p.R404_splice|PTH1R_ENST00000313049.5_Splice_Site_p.R404_splice NM_000316.2 NP_000307.1 Q03431 PTH1R_HUMAN parathyroid hormone 1 receptor 404 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 GCTGGCCCAGGAAGCTGCTCA 0.617000 15 21 0 0 1 0 0 WDR7 23335 broad.mit.edu 37 18 54363643 54363643 + Missense_Mutation SNP G G T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr18:54363643G>T ENST00000254442.3 + 12 1739 c.1528G>T c.(1528-1530)Gtt>Ttt p.V510F WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.V510F NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 510 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) TATCTTCTGTGTTCATGGTGG 0.353000 38 17 3.09479e-21 3.13108e-21 1 1 0 GRIA1 2890 broad.mit.edu 37 5 153175112 153175112 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:153175112G>A ENST00000340592.5 + 14 2420 c.2347G>A c.(2347-2349)Gat>Aat p.D783N GRIA1_ENST00000285900.5_Intron|GRIA1_ENST00000521843.2_Intron|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000518783.1_Intron|GRIA1_ENST00000448073.4_Missense_Mutation_p.D793N NM_001114183.1|NM_001258020.1 NP_001107655.1|NP_001244949.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 783 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ATGGTGGTACGATAAAGGGGA 0.483000 16 14 0 0 1 0 0 CDHR5 53841 broad.mit.edu 37 11 621829 621829 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:621829C>T ENST00000358353.3 - 5 710 c.388G>A c.(388-390)Gag>Aag p.E130K CDHR5_ENST00000397542.2_Missense_Mutation_p.E130K|CDHR5_ENST00000349570.7_Missense_Mutation_p.E130K Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 130 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 ACCCTTATCTCCTTGGTCTTA 0.642000 29 58 0 0 1 0 0 TAS2R39 259285 broad.mit.edu 37 7 142881181 142881181 + Missense_Mutation SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:142881181T>C ENST00000446620.1 + 1 670 c.670T>C c.(670-672)Ttc>Ctc p.F224L NM_176881.2 NP_795362.2 P59534 T2R39_HUMAN taste receptor, type 2, member 39 224 sensory perception of taste integral to membrane G-protein coupled receptor activity p.F224L(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 Melanoma(164;0.059) TCTGATCATGTTCATCCTGAC 0.507000 54 62 0 0 1 0 0 REST 5978 broad.mit.edu 37 4 57798003 57798003 + Silent SNP T T G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:57798003T>G ENST00000309042.7 + 4 3293 c.2979T>G c.(2977-2979)ccT>ccG p.P993P NM_001193508.1|NM_005612.4 NP_001180437.1|NP_005603.3 Q13127 REST_HUMAN RE1-silencing transcription factor 993 cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 50 Glioma(25;0.08)|all_neural(26;0.181) TGGCATCACCTCCTGCTACAA 0.458000 29 33 0 0 1 0 0 OR1L1 26737 broad.mit.edu 37 9 125424775 125424775 + Nonsense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr9:125424775C>T ENST00000373686.1 + 1 931 c.931C>T c.(931-933)Cag>Tag p.Q311* Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, member 1 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 TCTCTATTTTCAGCCCCTGTC 0.413000 131 19 0 0 1 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65810580 65810580 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:65810580C>T ENST00000312006.4 - 3 975 c.694G>A c.(694-696)Gag>Aag p.E232K GAL3ST3_ENST00000527878.1_Missense_Mutation_p.E232K NM_033036.2 NP_149025.1 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 232 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity kidney(1)|lung(9)|ovary(2)|skin(2) 14 AAAACCTCCTCCACCTGGCGG 0.662000 42 48 0 0 1 0 0 ITGAM 3684 broad.mit.edu 37 16 31287013 31287013 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:31287013G>A ENST00000544665.3 + 9 1073 c.1002G>A c.(1000-1002)gcG>gcA p.A334A ITGAM_ENST00000287497.8_Silent_p.A334A NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 334 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 AGATCTTTGCGATCGAGGGTG 0.542000 24 19 0 0 1 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21793427 21793427 + Nonsense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:21793427G>A ENST00000206660.6 + 15 2252 c.2252G>A c.(2251-2253)tGg>tAg p.W751* RPGRIP1_ENST00000307974.4_Nonsense_Mutation_p.W110*|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000400017.2_Nonsense_Mutation_p.W751*|RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.W713*|RPGRIP1_ENST00000556336.1_Intron Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 751 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) CTAGAGTACTGGATGAGGCTG 0.522000 20 9 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34191094 34191094 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:34191094C>T ENST00000373381.4 - 17 2727 c.2551G>A c.(2551-2553)Ggg>Agg p.G851R NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 811 CUB 5. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TAAGTCCGCCCATCGCGTACT 0.493000 26 33 0 0 1 0 0 OR51B6 390058 broad.mit.edu 37 11 5373581 5373581 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:5373581C>T ENST00000380219.1 + 1 844 c.844C>T c.(844-846)Cca>Tca p.P282S HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron NM_001004750.1 NP_001004750.1 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, member 6 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 21 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTTCCTTTTCCCACCTTTTAT 0.388000 58 85 0 0 1 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50657167 50657167 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr22:50657167G>A ENST00000248846.5 - 21 4890 c.4786C>T c.(4786-4788)Ccg>Tcg p.P1596S TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1596 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) AGCACATCCGGGGCGTTGGGG 0.677000 22 55 0 0 1 0 0 BAI2 576 broad.mit.edu 37 1 32193847 32193847 + Missense_Mutation SNP A A T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:32193847A>T ENST00000373658.3 - 31 4792 c.4451T>A c.(4450-4452)cTc>cAc p.L1484H BAI2_ENST00000527361.1_Missense_Mutation_p.L1450H|BAI2_ENST00000398538.1_Missense_Mutation_p.L1472H|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398542.1_Missense_Mutation_p.L1384H|BAI2_ENST00000398547.1_Missense_Mutation_p.L1417H|BAI2_ENST00000398556.3_Missense_Mutation_p.L1399H|BAI2_ENST00000257070.4_Missense_Mutation_p.L1450H|BAI2_ENST00000373655.2_Missense_Mutation_p.L1483H|BAI2_ENST00000440175.2_Missense_Mutation_p.L1093H NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 1484 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) CTCGTGGTAGAGTTCTGAATG 0.642000 34 37 0 0 1 0 0 NOS3 4846 broad.mit.edu 37 7 150697629 150697629 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:150697629C>T ENST00000297494.3 + 10 1532 c.1175C>T c.(1174-1176)tCc>tTc p.S392F NOS3_ENST00000461406.1_Missense_Mutation_p.S186F|NOS3_ENST00000467517.1_Missense_Mutation_p.S392F|NOS3_ENST00000484524.1_Missense_Mutation_p.S392F NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 392 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) ACCACCTCGTCCCTGTGGAAA 0.602000 37 49 0 0 1 0 0 PARP8 79668 broad.mit.edu 37 5 50084407 50084407 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:50084407G>A ENST00000281631.5 + 10 879 c.721G>A c.(721-723)Gga>Aga p.G241R PARP8_ENST00000505697.2_Missense_Mutation_p.G241R|PARP8_ENST00000503750.2_Missense_Mutation_p.G241R|PARP8_ENST00000505554.1_Missense_Mutation_p.G220R|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.G241R|PARP8_ENST00000514342.2_5'UTR NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 241 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) ATTTGGATTGGGACATCAGCT 0.343000 8 17 0 0 1 0 0 C9orf129 445577 broad.mit.edu 37 9 96081391 96081391 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr9:96081391C>T ENST00000375419.1 - 4 794 c.431G>A c.(430-432)aGg>aAg p.R144K WNK2_ENST00000395475.2_Intron|WNK2_ENST00000349097.3_Intron|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000395477.2_Intron|WNK2_ENST00000471076.1_Intron NM_001098808.1 NP_001092278.1 Q5T035 CI129_HUMAN chromosome 9 open reading frame 129 144 endometrium(2)|large_intestine(1)|lung(1)|ovary(2) 6 ACCTGTCCCCCTTGCCTGTGA 0.512000 61 6 0 0 1 0 0 GRXCR2 643226 broad.mit.edu 37 5 145252487 145252487 + Silent SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:145252487T>C ENST00000377976.1 - 1 44 c.45A>G c.(43-45)aaA>aaG p.K15K NM_001080516.1 NP_001073985.1 A6NFK2 GRCR2_HUMAN glutaredoxin, cysteine rich 2 15 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 CTTTCCGGGGTTTGCCATCAC 0.502000 27 82 0 0 1 0 0 LRRC18 474354 broad.mit.edu 37 10 50121703 50121703 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:50121703G>A ENST00000374160.3 - 1 574 c.498C>T c.(496-498)ctC>ctT p.L166L WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Silent_p.L166L|WDFY4_ENST00000413659.2_Intron|RP11-523O18.7_ENST00000430438.1_RNA NM_001006939.3 NP_001006940.3 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 166 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 TCAGCTTGGGGAGCTTGGAGA 0.537000 20 3 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174541 150174541 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:150174541G>A ENST00000307271.3 + 5 2245 c.1671G>A c.(1669-1671)acG>acA p.T557T NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 557 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) CAGACTTTACGAAATACGCGA 0.493000 53 75 0 0 1 0 0 NOTCH2NL 388677 broad.mit.edu 37 1 145290442 145290442 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:145290442C>T ENST00000344859.3 + 5 1010 c.648C>T c.(646-648)atC>atT p.I216I NBPF10_ENST00000369339.2_5'UTR|RP11-458D21.5_ENST00000468030.1_Intron|NOTCH2NL_ENST00000479995.2_3'UTR Q7Z3S9 NT2NL_HUMAN notch 2 N-terminal like 0 EGF-like 6. cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 27 CATGGCCAATCTTTCCTAAGC 0.368000 17 323 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77542398 77542398 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:77542398G>A ENST00000461745.1 + 5 1571 c.671G>A c.(670-672)cGa>cAa p.R224Q ROBO2_ENST00000332191.8_Missense_Mutation_p.R224Q|ROBO2_ENST00000487694.3_Missense_Mutation_p.R240Q NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 224 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding p.R224Q(1) NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TTTCAAGAACGACCCACATTT 0.363000 27 49 0 0 1 0 0 CENPK 64105 broad.mit.edu 37 5 64838670 64838670 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:64838670G>A ENST00000396679.1 - 6 461 c.247C>T c.(247-249)Ccc>Tcc p.P83S CENPK_ENST00000510693.1_Missense_Mutation_p.P53S|CENPK_ENST00000508421.1_Missense_Mutation_p.P53S|CENPK_ENST00000506282.2_5'UTR|CENPK_ENST00000242872.3_Missense_Mutation_p.P83S|CENPK_ENST00000514814.1_Missense_Mutation_p.P83S NM_022145.4 NP_071428.2 Q9BS16 CENPK_HUMAN centromere protein K 83 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm breast(1)|endometrium(1)|large_intestine(3)|lung(5) 10 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) Lung(70;0.00466) TCAGTCAAGGGAATTGCTACA 0.299000 32 19 0 0 1 0 0 FANCI 55215 broad.mit.edu 37 15 89837175 89837175 + Silent SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr15:89837175T>C ENST00000310775.7 + 23 2489 c.2403T>C c.(2401-2403)agT>agC p.S801S FANCI_ENST00000300027.8_Silent_p.S801S NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 801 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) ACAAGACAAGTGATAGTCTTT 0.398000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 34 77 0 0 1 0 0 STAR 6770 broad.mit.edu 37 8 38003836 38003836 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:38003836C>T ENST00000276449.4 - 4 882 c.436G>A c.(436-438)Gag>Aag p.E146K NM_000349.2 NP_000340.2 P49675 STAR_HUMAN steroidogenic acute regulatory protein 146 START. C21-steroid hormone biosynthetic process mitochondrial intermembrane space cholesterol transporter activity breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 Colorectal(12;0.000442) all_lung(54;0.0151)|Lung NSC(58;0.0295) READ - Rectum adenocarcinoma(644;0.188) GGGTTCCACTCCCCCATTGCT 0.587000 54 8 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11190804 11190804 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:11190804C>T ENST00000361445.4 - 39 5471 c.5395G>A c.(5395-5397)Gaa>Aaa p.E1799K MTOR_ENST00000376838.1_Missense_Mutation_p.E4K NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 1799 FAT. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity p.E1799K(4) breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 AGCACAGCTTCGAAGTTCATC 0.582000 8 11 0 0 1 0 0 BACH2 60468 broad.mit.edu 37 6 90642326 90642326 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:90642326G>A ENST00000257749.4 - 9 3034 c.2327C>T c.(2326-2328)cCc>cTc p.P776L BACH2_ENST00000537989.1_Missense_Mutation_p.P776L|BACH2_ENST00000343122.3_Missense_Mutation_p.P776L NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 776 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) GGGTCCGGGGGGAGCCGCGCC 0.627000 46 58 0 0 1 0 0 RSF1 51773 broad.mit.edu 37 11 77404608 77404608 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:77404608G>A ENST00000308488.6 - 8 3066 c.2764C>T c.(2764-2766)Cgc>Tgc p.R922C RSF1_ENST00000360355.2_Missense_Mutation_p.R891C|RSF1_ENST00000480887.1_Missense_Mutation_p.R670C Q96T23 RSF1_HUMAN remodeling and spacing factor 1 922 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) AGAGGAGGGCGAAGGCAGGCA 0.443000 13 21 0 0 1 0 0 CNKSR2 22866 broad.mit.edu 37 X 21627600 21627600 + Missense_Mutation SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:21627600T>C ENST00000425654.2 + 19 2947 c.2467T>C c.(2467-2469)Ttc>Ctc p.F823L CNKSR2_ENST00000543067.1_Missense_Mutation_p.F804L|CNKSR2_ENST00000279451.4_Missense_Mutation_p.F853L|CNKSR2_ENST00000379510.3_Missense_Mutation_p.F853L NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 853 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 AGATAGCGGGTTCAACCATTG 0.542000 58 7 0 0 1 0 0 SLC26A3 1811 broad.mit.edu 37 7 107432324 107432324 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:107432324G>A ENST00000340010.5 - 4 517 c.333C>T c.(331-333)ttC>ttT p.F111F SLC26A3_ENST00000422236.2_Silent_p.F76F NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 111 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 TTATGGCTGGGAAAAAGGATG 0.443000 45 55 0 0 1 0 0 VPS4A 27183 broad.mit.edu 37 16 69352604 69352604 + Silent SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:69352604A>G ENST00000254950.11 + 4 489 c.333A>G c.(331-333)gaA>gaG p.E111E RP11-343C2.3_ENST00000570054.2_Silent_p.E135E|VPS4A_ENST00000569775.1_Intron NM_013245.2 NP_037377.1 Q9UN37 VPS4A_HUMAN vacuolar protein sorting 4 homolog A (S. cerevisiae) 111 cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3) 7 Ovarian(137;0.101) AACTGCAAGAACAGCTGATGG 0.622000 19 23 0 0 1 0 0 PTPN21 11099 broad.mit.edu 37 14 88946333 88946333 + Missense_Mutation SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:88946333T>C ENST00000556564.1 - 13 1726 c.1442A>G c.(1441-1443)tAc>tGc p.Y481C PTPN21_ENST00000328736.3_Missense_Mutation_p.Y481C NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 481 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GCTGTAGGCGTACGAGCTGCC 0.657000 17 41 0 0 1 0 0 PHKB 5257 broad.mit.edu 37 16 47627449 47627449 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:47627449C>T ENST00000455779.1 + 12 1271 c.1086C>T c.(1084-1086)ttC>ttT p.F362F PHKB_ENST00000299167.8_Silent_p.F369F|PHKB_ENST00000566044.1_Silent_p.F362F|PHKB_ENST00000323584.5_Silent_p.F369F Q93100 KPBB_HUMAN phosphorylase kinase, beta 369 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1) 41 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) CCATATTTTTCCTTTATATGA 0.254000 15 25 0 0 1 0 0 MT-ND5 4540 broad.mit.edu 37 MT 14012 14012 + Missense_Mutation SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrM:14012A>G ENST00000361567.2 + 1 1676 c.1676A>G c.(1675-1677)gAa>gGa p.E559G P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 559 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) AACCTGACTAGAAAAGCTATT 0.443000 82 69 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 169099271 169099271 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:169099271C>T ENST00000494292.1 - 2 176 c.79G>A c.(79-81)Gaa>Aaa p.E27K MECOM_ENST00000485957.1_5'UTR NM_004991.3 NP_004982.2 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 27 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 GGCATTTCTTCCAAAGGTATT 0.418000 14 15 0 0 1 0 0 ACSM4 341392 broad.mit.edu 37 12 7470723 7470723 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:7470723G>A ENST00000399422.4 + 5 914 c.866G>A c.(865-867)gGa>gAa p.G289E NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 289 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 TGGCTGTGTGGAGCCTGTGTT 0.473000 47 27 0 0 1 0 0 GRK6 2870 broad.mit.edu 37 5 176862086 176862086 + Missense_Mutation SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:176862086A>G ENST00000355472.5 + 11 1189 c.1021A>G c.(1021-1023)Acc>Gcc p.T341A GRK6_ENST00000507633.1_Missense_Mutation_p.T341A|GRK6_ENST00000355958.5_Missense_Mutation_p.T341A|GRK6_ENST00000393576.3_Missense_Mutation_p.T307A|GRK6_ENST00000528793.1_Missense_Mutation_p.T341A NM_001004106.2|NM_002082.3 NP_001004106.1|NP_002073.2 P43250 GRK6_HUMAN G protein-coupled receptor kinase 6 341 Protein kinase. regulation of G-protein coupled receptor protein signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1) 25 all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) 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) CGAGGGCCAGACCATCAAAGG 0.622000 29 19 0 0 1 0 0 CAMK2A 815 broad.mit.edu 37 5 149602638 149602638 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:149602638C>T ENST00000348628.6 - 17 2012 c.1347G>A c.(1345-1347)tcG>tcA p.S449S CAMK2A_ENST00000398376.3_Silent_p.S460S|CAMK2A_ENST00000351010.6_5'UTR NM_015981.3|NM_171825.2 NP_057065.2|NP_741960.1 Q9UQM7 KCC2A_HUMAN calcium/calmodulin-dependent protein kinase II alpha 449 interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1) 15 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGGTCTCCTCCGACTGGGCGG 0.647000 21 61 0 0 1 0 0 NOS2 4843 broad.mit.edu 37 17 26085919 26085919 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:26085919G>A ENST00000313735.6 - 26 3575 c.3342C>T c.(3340-3342)ttC>ttT p.F1114F NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 1114 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) TGAGCTGAAAGAAATAGTCCT 0.612000 9 18 0 0 1 0 0 SLC22A9 114571 broad.mit.edu 37 11 63176292 63176292 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:63176292C>T ENST00000279178.3 + 9 1791 c.1542C>T c.(1540-1542)ctC>ctT p.L514L SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 514 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 TTGCTTTCCTCCTCCTTCCTG 0.517000 46 63 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34148365 34148365 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:34148365C>T ENST00000346193.3 - 1 2082 c.2031G>A c.(2029-2031)agG>agA p.R677R NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 677 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TGTGGAATTTCCTGCCCCAGT 0.433000 67 6 0 0 1 0 0 OR1N2 138882 broad.mit.edu 37 9 125315495 125315495 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr9:125315495G>A ENST00000373688.2 + 1 105 c.47G>A c.(46-48)gGa>gAa p.G16E NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 CAAGGGATGGGAAAACCAGGC 0.448000 75 12 0 0 1 0 0 FRMPD3 84443 broad.mit.edu 37 X 106768868 106768868 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:106768868G>A ENST00000276185.4 + 2 78 c.78G>A c.(76-78)caG>caA p.Q26Q FRMPD3-AS1_ENST00000415252.1_RNA Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 26 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 CTGGCCAACAGGAACTCTTTT 0.463000 39 1 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10411879 10411879 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:10411879G>A ENST00000226207.5 - 16 1792 c.1698C>T c.(1696-1698)ttC>ttT p.F566F CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 566 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TGGGCTTCTGGAAGTTATTGG 0.502000 54 66 0 0 1 0 0 AGAP1 116987 broad.mit.edu 37 2 236715901 236715901 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:236715901C>T ENST00000409538.1 + 9 2267 c.1771C>T c.(1771-1773)Cca>Tca p.P591S AGAP1_ENST00000336665.5_Missense_Mutation_p.P326S|AGAP1_ENST00000428334.2_Missense_Mutation_p.P165S|AGAP1_ENST00000304032.7_Missense_Mutation_p.P326S|AGAP1_ENST00000409457.1_Missense_Mutation_p.P326S Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 326 protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 AGGGAGCGACCCAGACAAAGA 0.567000 102 87 0 0 1 0 0 OR10C1 442194 broad.mit.edu 37 6 29408446 29408446 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:29408446G>A ENST00000444197.2 + 1 1364 c.654G>A c.(652-654)ggG>ggA p.G218G OR11A1_ENST00000377149.1_Intron NM_013941.3 NP_039229.3 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene) 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 GCTCCTACGGGCGTATCCTCG 0.577000 126 169 0 0 1 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56736206 56736206 + Silent SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:56736206A>G ENST00000587340.1 - 4 905 c.210T>C c.(208-210)caT>caC p.H70H ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000254165.3_Intron|ZSCAN5A_ENST00000592355.1_Silent_p.H70H|ZSCAN5A_ENST00000391713.1_Silent_p.H70H Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 70 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TCAGCCACAGATGGCACAGCT 0.567000 19 38 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146065533 146065533 + Silent SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:146065533T>C ENST00000454497.2 - 15 1418 c.1281A>G c.(1279-1281)agA>agG p.R427R OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_Silent_p.R492R NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 491 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GTGATGATTTTCTCTGGACAC 0.383000 107 117 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66461281 66461281 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:66461281C>T ENST00000533211.1 - 23 4886 c.4555G>A c.(4555-4557)Gac>Aac p.D1519N SPTBN2_ENST00000529997.1_Missense_Mutation_p.D1519N|SPTBN2_ENST00000309996.2_Missense_Mutation_p.D1519N O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1519 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 CTGGGCAGGTCCTTGCCATGC 0.592000 14 26 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23527584 23527584 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:23527584G>A ENST00000296682.3 + 11 2569 c.2387G>A c.(2386-2388)aGg>aAg p.R796K NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 796 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AGTCACCAGAGGACACACACA 0.572000 HNSCC(3;0.000094) 90 23 0 0 1 0 0 RLF 6018 broad.mit.edu 37 1 40656453 40656453 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:40656453C>T ENST00000372771.4 + 3 429 c.402C>T c.(400-402)ttC>ttT p.F134F NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 134 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) GGAGTTGTTTCGAATTACTGC 0.323000 29 30 0 0 1 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71276890 71276890 + Missense_Mutation SNP C C T rs36179995 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:71276890C>T ENST00000398531.1 + 1 282 c.257C>T c.(256-258)tCc>tTc p.S86F KRTAP5-10_ENST00000376536.4_Intron NM_001012710.1 NP_001012728.1 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 86 7 X 4 AA repeats of C-C-X-P. keratin filament endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 GGCTGTGGTTCCTGTGGGGGC 0.687000 52 81 0 0 1 0 0 BMP3 651 broad.mit.edu 37 4 81974625 81974625 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:81974625G>A ENST00000282701.2 + 3 1674 c.1354G>A c.(1354-1356)Gaa>Aaa p.E452K NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 452 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 ATTCTTTGATGAAAATAAGAA 0.408000 55 90 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21188850 21188850 + Splice_Site SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr22:21188850C>T ENST00000255882.6 - 3 453 c.367_splice c.e3+1 p.G123_splice PI4KA_ENST00000572273.1_Splice_Site_p.G65_splice NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 65 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) ATACAATTACCTCTGCCTTTC 0.373000 74 154 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65267689 65267689 + RNA SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:65267689G>A ENST00000534336.1 + 0 2457 NR_002819.2 GCTTTTGGAAGAGTTAGAAGA 0.333000 19 11 0 0 1 0 0 KLK15 55554 broad.mit.edu 37 19 51329169 51329169 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:51329169G>A ENST00000326856.4 - 6 780 c.651C>T c.(649-651)atC>atT p.I217I KLK15_ENST00000598239.1_Silent_p.I218I|KLK15_ENST00000416184.1_Silent_p.I133I|KLK15_ENST00000301421.2_3'UTR|KLK15_ENST00000596931.1_3'UTR NM_001277081.1 NP_001264010.1 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 218 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) TGCCCTGCAGGATGCCCCCAC 0.557000 29 24 0 0 1 0 0 ANO7 50636 broad.mit.edu 37 2 242142881 242142881 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:242142881G>A ENST00000274979.8 + 9 1122 c.1019G>A c.(1018-1020)gGg>gAg p.G340E ANO7_ENST00000402430.3_Missense_Mutation_p.G339E NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 340 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 AGGTACTTCGGGGAGAAGGTG 0.647000 5 8 0 0 1 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1606190 1606190 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:1606190C>T ENST00000382171.2 - 1 323 c.290G>A c.(289-291)gGg>gAg p.G97E KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 97 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GCCACAACCCCCCTTGGATCC 0.677000 53 40 0 0 1 0 0 ETV7 51513 broad.mit.edu 37 6 36334429 36334429 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:36334429G>A ENST00000373738.1 - 7 1699 c.854C>T c.(853-855)tCt>tTt p.S285F ETV7_ENST00000373737.4_Missense_Mutation_p.S263F|ETV7_ENST00000340181.4_Missense_Mutation_p.S340F|ETV7_ENST00000339796.5_Intron|ETV7_ENST00000538992.1_Missense_Mutation_p.S189F NM_001207036.1 NP_001193965.1 Q9Y603 ETV7_HUMAN ets variant 7 340 organ morphogenesis|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4) 10 CCCTCACGGAGAGATTTCTGG 0.612000 35 126 0 0 1 0 0 AFP 174 broad.mit.edu 37 4 74315155 74315155 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:74315155G>A ENST00000395792.2 + 9 1262 c.1162G>A c.(1162-1164)Gaa>Aaa p.E388K AFP_ENST00000226359.2_Missense_Mutation_p.E388K NM_001134.1 NP_001125.1 P02771 FETA_HUMAN alpha-fetoprotein 388 Albumin 2. transport metal ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TTTCCAGACTGAAAACCCTCT 0.368000 Alpha-Fetoprotein, Hereditary Persistence of 32 44 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63966673 63966673 + Missense_Mutation SNP T T G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr15:63966673T>G ENST00000443617.2 - 38 7801 c.7714A>C c.(7714-7716)Aag>Cag p.K2572Q NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 2572 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 ACTGCTCGCTTCACCATGTGT 0.493000 17 29 0 0 1 0 0 ITIH5 80760 broad.mit.edu 37 10 7608228 7608228 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:7608228G>A ENST00000256861.6 - 13 2370 c.2292C>T c.(2290-2292)atC>atT p.I764I ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Silent_p.I550I|ITIH5_ENST00000446830.2_Silent_p.I546I NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 764 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 CACCATCCAAGATGACTCTGC 0.562000 16 4 0 0 1 0 0 DSG2 1829 broad.mit.edu 37 18 29101160 29101160 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr18:29101160C>T ENST00000261590.8 + 5 686 c.477C>T c.(475-477)ttC>ttT p.F159F DSG2_ENST00000585206.1_Silent_p.F159F NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 159 Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) AACCAGTGTTCACACAGGATG 0.368000 38 55 0 0 1 0 0 RFX1 5989 broad.mit.edu 37 19 14077481 14077481 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:14077481G>A ENST00000254325.4 - 13 2049 c.1815C>T c.(1813-1815)atC>atT p.I605I NM_002918.4 NP_002909.4 P22670 RFX1_HUMAN regulatory factor X, 1 (influences HLA class II expression) 605 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) GGAAGGCTTTGATGTCCCCGG 0.677000 59 57 0 0 1 0 0 WISP1 8840 broad.mit.edu 37 8 134232939 134232939 + Silent SNP A A C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:134232939A>C ENST00000250160.6 + 3 571 c.465A>C c.(463-465)ccA>ccC p.P155P WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000377863.2_Intron NM_003882.3 NP_003873.1 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 155 VWFC. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) GCTGCACACCACTGTGCCTCC 0.662000 75 107 0 0 1 0 0 SLC25A52 147407 broad.mit.edu 37 18 29340393 29340393 + Nonsense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr18:29340393G>A ENST00000269205.5 - 1 450 c.262C>T c.(262-264)Cga>Tga p.R88* SLC25A52_ENST00000579441.2_Nonsense_Mutation_p.R78* NM_001034172.2 NP_001029344.3 Q3SY17 MCAR2_HUMAN solute carrier family 25, member 52 78 transport integral to membrane|mitochondrial inner membrane TACAAATTTCGAAATCCATCC 0.463000 64 71 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6697724 6697724 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:6697724C>T ENST00000245907.6 - 20 2614 c.2522G>A c.(2521-2523)cGa>cAa p.R841Q NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 841 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding p.R841Q(1) breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CTGCTCGTTTCGAACAACAGA 0.572000 24 35 0 0 1 0 0 ADRA2A 150 broad.mit.edu 37 10 112838510 112838510 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:112838510C>T ENST00000280155.2 + 1 1721 c.756C>T c.(754-756)gaC>gaT p.D252D NM_000681.3 NP_000672.3 P08913 ADA2A_HUMAN adrenoceptor alpha 2A 237 actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(234;0.0735)|Lung NSC(174;0.238) Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118) Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392) GGGGTCCGGACGCCGTCGCCG 0.751000 3 1 0 0 1 0 0 TUBB4A 10382 broad.mit.edu 37 19 6496198 6496198 + Missense_Mutation SNP C C G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:6496198C>G ENST00000601152.1 - 4 361 c.236G>C c.(235-237)gGc>gCc p.G79A TUBB4A_ENST00000598006.1_Missense_Mutation_p.G90A|TUBB4A_ENST00000264071.2_Silent_p.G104G|TUBB4A_ENST00000596926.1_3'UTR|TUBB4A_ENST00000540257.1_Silent_p.G104G P04350 TBB4_HUMAN tubulin, beta 4A class IVa 0 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity CCGTGTAGTGCCCCTTTGCCC 0.627000 41 67 0 0 1 0 0 TNFRSF21 27242 broad.mit.edu 37 6 47253710 47253710 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:47253710C>T ENST00000296861.2 - 2 1111 c.718G>A c.(718-720)Gaa>Aaa p.E240K NM_014452.3 NP_055267.1 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, member 21 240 cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) GAAGGGACTTCATGGGTTTCC 0.517000 26 41 0 0 1 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58253474 58253474 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr15:58253474C>T ENST00000249750.4 - 11 2037 c.1270G>A c.(1270-1272)Gaa>Aaa p.E424K ALDH1A2_ENST00000537372.1_Missense_Mutation_p.E403K|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.E328K|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.E386K|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.E395K NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 424 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) CTCAAAATTTCCTGAACAGGG 0.393000 29 4 0 0 1 0 0 SERPINA3 12 broad.mit.edu 37 14 95090106 95090106 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:95090106G>A ENST00000553947.1 + 8 2190 c.1302G>A c.(1300-1302)caG>caA p.Q434Q SERPINA3_ENST00000393078.3_Silent_p.Q409Q|SERPINA3_ENST00000482740.1_Silent_p.Q191Q|SERPINA3_ENST00000393080.4_Silent_p.Q409Q|SERPINA3_ENST00000467132.1_Silent_p.Q409Q P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 409 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) CAGACACCCAGAACATCTTCT 0.488000 30 88 0 0 1 0 0 OR51E2 81285 broad.mit.edu 37 11 4703858 4703858 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:4703858G>A ENST00000396950.3 - 2 323 c.84C>T c.(82-84)ttC>ttT p.F28F NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) AAAGGAGGGGGAAGCCAACCC 0.502000 26 35 0 0 1 0 0 MUC15 143662 broad.mit.edu 37 11 26586830 26586830 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:26586830G>A ENST00000436318.2 - 2 790 c.657C>T c.(655-657)acC>acT p.T219T MUC15_ENST00000281268.8_Silent_p.T219T|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000527569.1_Silent_p.T219T|MUC15_ENST00000529533.1_Silent_p.T219T|MUC15_ENST00000455601.2_Silent_p.T192T|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron Q8N387 MUC15_HUMAN mucin 15, cell surface associated 192 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 CACTGTTTGTGGTAAGCCATC 0.398000 44 54 0 0 1 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907847 12907847 + Missense_Mutation SNP C C T rs150230498 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:12907847C>T ENST00000317869.6 - 2 521 c.296G>A c.(295-297)cGa>cAa p.R99Q NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 CGCTGCTGATCGTTTCACACC 0.488000 27 96 0 0 1 0 0 KRT6A 3853 broad.mit.edu 37 12 52886952 52886952 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:52886952G>A ENST00000330722.6 - 1 89 c.21C>T c.(19-21)acC>acT p.T7T NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 7 Head. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) GGCTCCTGATGGTGGTGGATG 0.622000 18 15 0 0 1 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71276889 71276889 + Missense_Mutation SNP T T A rs36179995 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:71276889T>A ENST00000398531.1 + 1 281 c.256T>A c.(256-258)Tcc>Acc p.S86T KRTAP5-10_ENST00000376536.4_Intron NM_001012710.1 NP_001012728.1 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 86 7 X 4 AA repeats of C-C-X-P. keratin filament endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 GGGCTGTGGTTCCTGTGGGGG 0.687000 56 85 0 0 1 0 0 NARS2 79731 broad.mit.edu 37 11 78277273 78277273 + Nonsense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:78277273G>A ENST00000281038.5 - 4 793 c.418C>T c.(418-420)Cga>Tga p.R140* NARS2_ENST00000528850.1_5'UTR NM_001243251.1|NM_024678.5 NP_001230180.1|NP_078954.4 Q96I59 SYNM_HUMAN asparaginyl-tRNA synthetase 2, mitochondrial (putative) 140 asparaginyl-tRNA aminoacylation mitochondrial matrix asparagine-tRNA ligase activity|ATP binding|nucleic acid binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1) 27 all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19) L-Asparagine(DB00174) GGATATTGTCGCAGATACTCC 0.373000 45 49 0 0 1 0 0 NBPF14 25832 broad.mit.edu 37 1 148004572 148004572 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:148004572C>T ENST00000369219.1 - 22 2758 c.2742G>A c.(2740-2742)caG>caA p.Q914Q Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 914 NBPF 10. cytoplasm NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) TGACTCCCATCTGGAACACCA 0.458000 49 367 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3081376 3081376 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:3081376C>T ENST00000602557.1 - 29 4917 c.4362G>A c.(4360-4362)ggG>ggA p.G1454G CSMD1_ENST00000539096.1_Silent_p.G1453G|CSMD1_ENST00000537824.1_Silent_p.G1453G|CSMD1_ENST00000542608.1_Silent_p.G1453G|CSMD1_ENST00000602723.1_Silent_p.G1454G|CSMD1_ENST00000400186.3_Silent_p.G1454G|CSMD1_ENST00000520002.1_Silent_p.G1454G|CSMD1_ENST00000523387.1_5'UTR Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1454 CUB 9. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCGTCAGATTCCCTCCACAAG 0.502000 20 4 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179427525 179427525 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:179427525C>T ENST00000589042.1 - 326 83558 c.83334G>A c.(83332-83334)gtG>gtA p.V27778V TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.V26137V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.V18838V|TTN_ENST00000342992.6_Silent_p.V25210V|TTN_ENST00000460472.2_Silent_p.V18713V|TTN_ENST00000342175.6_Silent_p.V18905V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26137 Fibronectin type-III 102. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGTCTTTCTTCACTTCTCTTA 0.398000 38 18 0 0 1 0 0 TSEN2 80746 broad.mit.edu 37 3 12546690 12546690 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:12546690C>T ENST00000284995.6 + 6 1256 c.869C>T c.(868-870)cCa>cTa p.P290L TSEN2_ENST00000454502.2_Missense_Mutation_p.P231L|TSEN2_ENST00000383797.5_Missense_Mutation_p.P290L|TSEN2_ENST00000402228.3_Missense_Mutation_p.P290L|TSEN2_ENST00000314571.7_Intron|TSEN2_ENST00000444864.1_Intron|TSEN2_ENST00000415684.1_Intron NM_025265.3 NP_079541.1 Q8NCE0 SEN2_HUMAN TSEN2 tRNA splicing endonuclease subunit 290 mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation cytoplasm|nucleolus|tRNA-intron endonuclease complex nucleic acid binding|tRNA-intron endonuclease activity central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7) 19 AGAAGAAATCCATATAGGATC 0.348000 35 28 0 0 1 0 0 TMEM198 130612 broad.mit.edu 37 2 220412676 220412676 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:220412676C>T ENST00000344458.2 + 4 1200 c.615C>T c.(613-615)ctC>ctT p.L205L TMEM198_ENST00000373883.3_Silent_p.L205L Q66K66 TM198_HUMAN transmembrane protein 198 205 Leu-rich. integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 16 Renal(207;0.0376) Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) TGGAGCGACTCCGGGCTGCTC 0.687000 12 7 0 0 1 0 0 KIN 22944 broad.mit.edu 37 10 7801817 7801817 + Missense_Mutation SNP A A C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:7801817A>C ENST00000543003.1 - 11 1116 c.837T>G c.(835-837)aaT>aaG p.N279K KIN_ENST00000463666.1_Intron|KIN_ENST00000535925.1_Intron|KIN_ENST00000379562.3_Intron O60870 KIN17_HUMAN KIN, antigenic determinant of recA protein homolog (mouse) 0 DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix double-stranded DNA binding|RNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2) 19 TTTTTAAAGCATTTTGAAATT 0.299000 13 3 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10398395 10398395 + Silent SNP C C T rs148989691 byFrequency TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:10398395C>T ENST00000226207.5 - 37 5413 c.5319G>A c.(5317-5319)ctG>ctA p.L1773L CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1773 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GTTCCTTCTTCAGCTCCTCAG 0.498000 96 111 0 0 1 0 0 COL8A2 1296 broad.mit.edu 37 1 36564446 36564446 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:36564446C>T ENST00000397799.1 - 4 1060 c.836G>A c.(835-837)gGt>gAt p.G279D COL8A2_ENST00000481785.1_Missense_Mutation_p.G214D|COL8A2_ENST00000303143.4_Missense_Mutation_p.G279D P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 279 Triple-helical region. angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GACTCCCACACCGTCTACTCC 0.706000 24 30 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152768689 152768689 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:152768689C>T ENST00000367255.5 - 29 4174 c.3573G>A c.(3571-3573)ttG>ttA p.L1191L SYNE1_ENST00000265368.4_Silent_p.L1191L|SYNE1_ENST00000367248.3_Silent_p.L1181L|SYNE1_ENST00000423061.1_Silent_p.L1198L|SYNE1_ENST00000367253.4_Silent_p.L1191L|SYNE1_ENST00000341594.5_Silent_p.L1257L|SYNE1_ENST00000448038.1_Silent_p.L1198L|SYNE1_ENST00000413186.2_Silent_p.L1191L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1191 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AAACTTCTGTCAAAACTTTCA 0.458000 HNSCC(10;0.0054) 23 30 0 0 1 0 0 LOC93432 93432 broad.mit.edu 37 7 141896542 141896542 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:141896542G>A ENST00000477922.3 + 40 4612 c.4558G>A c.(4558-4560)Gag>Aag p.E1520K endometrium(1)|lung(5) 6 TGCTGAATATGAGATGTGTGT 0.478000 14 16 0 0 1 0 0 CTHRC1 115908 broad.mit.edu 37 8 104388112 104388112 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:104388112G>A ENST00000330295.5 + 2 439 c.297G>A c.(295-297)gaG>gaA p.E99E CTHRC1_ENST00000520337.1_Silent_p.E85E|CTHRC1_ENST00000415886.2_Silent_p.E99E NM_138455.3 NP_612464.1 Q96CG8 CTHR1_HUMAN collagen triple helix repeat containing 1 99 collagen endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) AAAGCTTTGAGGAGTCCTGGA 0.473000 47 60 0 0 1 0 0 TMEM101 84336 broad.mit.edu 37 17 42090521 42090521 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:42090521G>A ENST00000589334.1 - 4 636 c.321C>T c.(319-321)gtC>gtT p.V107V TMEM101_ENST00000206380.3_Silent_p.V107V|TMEM101_ENST00000587529.1_Silent_p.V107V|TMEM101_ENST00000542039.1_Silent_p.V49V Q96IK0 TM101_HUMAN transmembrane protein 101 107 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 Breast(137;0.0264)|Prostate(33;0.0861) BRCA - Breast invasive adenocarcinoma(366;0.113) AGTACATACGGACCTAGGCCG 0.617000 11 16 0 0 1 0 0 TMEM108 66000 broad.mit.edu 37 3 133099842 133099842 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:133099842C>T ENST00000515826.1 + 3 1410 c.1287C>T c.(1285-1287)ttC>ttT p.F429F TMEM108_ENST00000393130.3_Silent_p.F429F|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000321871.6_Silent_p.F429F Q6UXF1 TM108_HUMAN transmembrane protein 108 429 integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 CAGGCAATTTCCTCAACCGCC 0.622000 31 57 0 0 1 0 0 DDX43 55510 broad.mit.edu 37 6 74119003 74119003 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:74119003G>A ENST00000370336.4 + 10 1370 c.1212G>A c.(1210-1212)atG>atA p.M404I DDX43_ENST00000479773.1_3'UTR NM_018665.2 NP_061135.2 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 404 Helicase ATP-binding. intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 TGTTGGACATGGGATTTGAAC 0.383000 45 74 0 0 1 0 0 XPO4 64328 broad.mit.edu 37 13 21417936 21417936 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr13:21417936G>A ENST00000400602.2 - 5 581 c.546C>T c.(544-546)ttC>ttT p.F182F XPO4_ENST00000255305.6_Silent_p.F182F NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 182 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) AGTTACCATGGAATTCCATGC 0.333000 31 62 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79067089 79067089 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr15:79067089G>A ENST00000388820.4 - 12 1963 c.1753C>T c.(1753-1755)Cgc>Tgc p.R585C ADAMTS7_ENST00000566303.1_Intron NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 585 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 TTGCAGAGGCGGAAGCGCTTG 0.637000 14 86 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 70800616 70800616 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:70800616G>A ENST00000333538.5 + 2 953 c.319G>A c.(319-321)Gaa>Aaa p.E107K WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 107 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TTCCCCGGCTGAAGAAGAAAA 0.488000 23 48 0 0 1 0 0 GAA 2548 broad.mit.edu 37 17 78085843 78085843 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:78085843C>T ENST00000302262.3 + 12 1917 c.1698C>T c.(1696-1698)tcC>tcT p.S566S GAA_ENST00000390015.3_Silent_p.S566S NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid 566 S -> P (in GSD2; infantile form). cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) AGTTTCTCTCCACACACTACA 0.662000 48 70 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9067508 9067508 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:9067508C>T ENST00000397910.4 - 3 20141 c.19938G>A c.(19936-19938)agG>agA p.R6646R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6648 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCATCTCAATCCTTGTAATCT 0.502000 54 71 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1093537 1093537 + Nonsense_Mutation SNP A A T rs80200693 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:1093537A>T ENST00000441003.2 + 30 5383 c.5356A>T c.(5356-5358)Aag>Tag p.K1786* MUC2_ENST00000359061.5_Nonsense_Mutation_p.1742_1742ins*|MUC2_ENST00000333592.6_Nonsense_Mutation_p.K74*|MUC2_ENST00000361558.6_Intron NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1778 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) caccagcacaaagagtacaac 0.602000 13 17 0 0 1 0 0 BAK1 578 broad.mit.edu 37 6 33543609 33543609 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:33543609G>A ENST00000374467.3 - 3 415 c.167C>T c.(166-168)gCc>gTc p.A56V BAK1_ENST00000360661.5_Missense_Mutation_p.A56V|BAK1_ENST00000442998.2_Missense_Mutation_p.A56V NM_001188.3 NP_001179.1 Q16611 BAK_HUMAN BCL2-antagonist/killer 1 56 activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria integral to mitochondrial outer membrane|pore complex metal ion binding|protein heterodimerization activity large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 CTCTGGGTCGGCAGGGGCAGC 0.592000 33 87 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133799649 133799649 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:133799649G>A ENST00000321016.8 - 12 1778 c.1548C>T c.(1546-1548)gtC>gtT p.V516V IGSF9B_ENST00000533871.2_Silent_p.V516V Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 516 Fibronectin type-III 1. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CCTGGACCCGGACACTGCCCG 0.597000 29 39 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33291520 33291520 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:33291520G>A ENST00000280979.4 + 13 4671 c.4501G>A c.(4501-4503)Ggt>Agt p.G1501S AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1501 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CCTGCTTCGTGGTTTTTATTT 0.383000 15 50 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151165537 151165537 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:151165537G>A ENST00000282466.3 - 4 2231 c.2232C>T c.(2230-2232)ttC>ttT p.F744F NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 744 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CAGAGGGAGGGAAATGCCTCC 0.473000 32 45 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109687221 109687221 + Missense_Mutation SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr9:109687221A>G ENST00000277225.5 + 3 1317 c.1028A>G c.(1027-1029)tAc>tGc p.Y343C ZNF462_ENST00000457913.1_Missense_Mutation_p.Y343C Q96JM2 ZN462_HUMAN zinc finger protein 462 343 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CCCATGTCTTACCCTCAGATG 0.483000 33 4 0 0 1 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27835053 27835053 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:27835053C>T ENST00000331442.3 - 1 306 c.255G>A c.(253-255)ctG>ctA p.L85L NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 85 H15. nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 TCTTGAGGCCCAGCTTAATGC 0.572000 90 238 0 0 1 0 0 KRT37 8688 broad.mit.edu 37 17 39580293 39580293 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:39580293G>A ENST00000225550.3 - 1 482 c.483C>T c.(481-483)ctC>ctT p.L161L AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 161 Coil 1B.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) CCTTCTGCTGGAGCTCCTCGA 0.577000 44 66 0 0 1 0 0 OR4C13 283092 broad.mit.edu 37 11 49974695 49974695 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:49974695C>T ENST00000555099.1 + 1 753 c.721C>T c.(721-723)Cac>Tac p.H241Y NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H241N(1) autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 CTGTGTCTCCCACATCACAGT 0.463000 61 19 0 0 1 0 0 SLAMF9 89886 broad.mit.edu 37 1 159923229 159923229 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:159923229G>A ENST00000368093.3 - 2 377 c.261C>T c.(259-261)agC>agT p.S87S SLAMF9_ENST00000368092.3_Silent_p.S87S|SLAMF9_ENST00000466773.1_Intron NM_033438.3 NP_254273.2 Q96A28 SLAF9_HUMAN SLAM family member 9 87 integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGTCCAGGAAGCTCACTTGGC 0.522000 42 45 0 0 1 0 0 TMEM198 130612 broad.mit.edu 37 2 220412677 220412677 + Missense_Mutation SNP C C T rs146753639 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:220412677C>T ENST00000344458.2 + 4 1201 c.616C>T c.(616-618)Cgg>Tgg p.R206W TMEM198_ENST00000373883.3_Missense_Mutation_p.R206W Q66K66 TM198_HUMAN transmembrane protein 198 206 Leu-rich. integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 16 Renal(207;0.0376) Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) GGAGCGACTCCGGGCTGCTCC 0.687000 12 7 0 0 1 0 0 TGM2 7052 broad.mit.edu 37 20 36779381 36779381 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr20:36779381G>A ENST00000361475.2 - 4 685 c.512C>T c.(511-513)tCg>tTg p.S171L TGM2_ENST00000536724.1_Missense_Mutation_p.S111L|TGM2_ENST00000536701.1_Missense_Mutation_p.S90L NM_004613.2|NM_198951.1 NP_004604.2|NP_945189.1 P21980 TGM2_HUMAN transglutaminase 2 171 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) GAACTTGGCCGAGCCCTGGTA 0.577000 76 104 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150327218 150327218 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:150327218C>T ENST00000328902.5 - 2 229 c.13G>A c.(13-15)Gaa>Aaa p.E5K GIMAP6_ENST00000493969.1_Missense_Mutation_p.E5K NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 5 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGTTCATATTCTTCTTCCTCC 0.423000 43 67 0 0 1 0 0 TRBV6-8 28599 broad.mit.edu 37 7 142124391 142124391 + RNA SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:142124391G>A ENST00000390376.2 - 0 86 TCAGGATGTGGAATTTTGGGG 0.522000 41 66 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57181116 57181116 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:57181116G>A ENST00000504228.1 + 6 1553 c.1448G>A c.(1447-1449)aGa>aAa p.R483K KIAA1211_ENST00000264229.6_Missense_Mutation_p.R483K|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R476K Q6ZU35 K1211_HUMAN KIAA1211 483 Glu-rich. endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) GAGGAAAAGAGAGAAGAAGGG 0.642000 3 14 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159653645 159653645 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:159653645C>T ENST00000297267.9 + 11 2301 c.2101C>T c.(2101-2103)Ccc>Tcc p.P701S FNDC1_ENST00000340366.6_Missense_Mutation_p.P638S NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 701 Ser-rich. extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CCGGAGGACCCCCCATTCAGG 0.692000 8 14 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111757899 111757899 + Missense_Mutation SNP A A C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:111757899A>C ENST00000261726.6 + 17 2240 c.2086A>C c.(2086-2088)Atc>Ctc p.I696L NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 696 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 CATCAAGAGCATCCTGGAGCA 0.726000 3 8 0 0 1 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140751397 140751397 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:140751397C>T ENST00000576222.1 + 1 1567 c.1436C>T c.(1435-1437)cCc>cTc p.P479L PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCTCGGATCCCGACTTGGGA 0.612000 27 79 0 0 1 0 0 HSPA6 3310 broad.mit.edu 37 1 161496362 161496362 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:161496362C>T ENST00000309758.4 + 1 2327 c.1914C>T c.(1912-1914)atC>atT p.I638I NM_002155.3 NP_002146.2 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 638 response to unfolded protein ATP binding endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) CCGGCCCCATCATTGAGGAGG 0.597000 15 25 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179449496 179449496 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:179449496C>T ENST00000589042.1 - 310 65096 c.64872G>A c.(64870-64872)ctG>ctA p.L21624L TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.L19983L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.L12684L|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Silent_p.L19056L|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.L12559L|TTN_ENST00000342175.6_Silent_p.L12751L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19983 Fibronectin type-III 57. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGCCTGGGATCAGCTTTCCAA 0.498000 254 168 0 0 1 0 0 NME8 51314 broad.mit.edu 37 7 37936623 37936623 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:37936623C>T ENST00000199447.4 + 17 2068 c.1696C>T c.(1696-1698)Cat>Tat p.H566Y NME8_ENST00000440017.1_Missense_Mutation_p.H566Y|EPDR1_ENST00000476620.1_Intron NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 566 NDK 3. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity AAACATTGTCCATGGAGCATC 0.413000 28 33 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121780261 121780261 + Silent SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:121780261T>C ENST00000261367.7 + 10 2995 c.1567T>C c.(1567-1569)Ttg>Ctg p.L523L CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000261368.8_Silent_p.L476L|SNCAIP_ENST00000379538.3_Silent_p.L110L|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000542191.1_Silent_p.L34L|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379533.2_Silent_p.L523L|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000414317.2_Silent_p.L78L|SNCAIP_ENST00000379536.2_Silent_p.L416L|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000504884.2_3'UTR Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 476 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CTGACAGACCTTGGTTGAATA 0.478000 27 77 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11651059 11651059 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:11651059C>T ENST00000262442.3 + 32 6654 c.6586C>T c.(6586-6588)Cca>Tca p.P2196S DNAH9_ENST00000454412.2_Missense_Mutation_p.P2196S NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2196 AAA 2 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CATCATCAATCCAGCCACAGG 0.527000 26 38 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231157442 231157442 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:231157442G>A ENST00000392045.3 + 20 2021 c.1907G>A c.(1906-1908)aGa>aAa p.R636K SP140_ENST00000486687.2_Missense_Mutation_p.R560K|SP140_ENST00000343805.6_Missense_Mutation_p.R576K|SP140_ENST00000417495.3_Missense_Mutation_p.R522K|SP140_ENST00000350136.5_Missense_Mutation_p.R505K|SP140_ENST00000420434.3_Missense_Mutation_p.R609K NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 636 SAND. defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GGCCATGCAAGATCAAAGAAC 0.512000 67 54 0 0 1 0 0 DTL 51514 broad.mit.edu 37 1 212273912 212273912 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:212273912C>T ENST00000366991.4 + 14 1894 c.1580C>T c.(1579-1581)cCg>cTg p.P527L DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.P485L NM_016448.2 NP_057532.2 Q9NZJ0 DTL_HUMAN denticleless E3 ubiquitin protein ligase homolog (Drosophila) 527 DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane protein binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102) ATCATGTCTCCGAGAAAAGCC 0.493000 32 56 0 0 1 0 0 C1orf168 199920 broad.mit.edu 37 1 57209892 57209892 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:57209892C>T ENST00000343433.6 - 10 1515 c.1435G>A c.(1435-1437)Ggg>Agg p.G479R C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 479 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 TTAGAGACCCCTAGGTCTGGA 0.433000 44 66 0 0 1 0 0 DRGX 644168 broad.mit.edu 37 10 50574190 50574190 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:50574190C>T ENST00000374139.2 - 6 773 c.763G>A c.(763-765)Gaa>Aaa p.E255K DRGX_ENST00000434016.1_Missense_Mutation_p.E260K C9JW76 C9JW76_HUMAN dorsal root ganglia homeobox 260 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 11 TCGCTCTGTTCCTTGGTGGGA 0.667000 26 9 0 0 1 0 0 CELF4 56853 broad.mit.edu 37 18 34854307 34854307 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr18:34854307G>A ENST00000420428.2 - 6 1163 c.768C>T c.(766-768)atC>atT p.I256I CELF4_ENST00000591287.1_Silent_p.I255I|CELF4_ENST00000601019.1_Silent_p.I255I|CELF4_ENST00000591282.1_Silent_p.I256I|CELF4_ENST00000361795.5_Silent_p.I255I|CELF4_ENST00000412753.1_Silent_p.I256I|CELF4_ENST00000334919.5_Silent_p.I246I|CELF4_ENST00000588597.1_Silent_p.I245I|CELF4_ENST00000603232.1_Silent_p.I256I|RP11-797E24.3_ENST00000588766.1_RNA NM_020180.3 NP_064565.1 Q9BZC1 CELF4_HUMAN CUGBP, Elav-like family member 4 256 Necessary for TNNT2 exon 5 inclusion.|Sufficient for RNA-binding and MSE- dependent splicing activity. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 44 CCCCGAAAGGGATGGCCATGG 0.647000 55 81 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233394181 233394181 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:233394181C>T ENST00000258229.8 - 5 1661 c.1427G>A c.(1426-1428)gGa>gAa p.G476E PCNXL2_ENST00000430153.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 476 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GATGGCATTTCCCCCCTCCCC 0.547000 21 24 0 0 1 0 0 NUDT2 318 broad.mit.edu 37 9 34343206 34343206 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr9:34343206C>T ENST00000379158.2 + 5 570 c.212C>T c.(211-213)aCc>aTc p.T71I NUDT2_ENST00000379155.5_Missense_Mutation_p.T71I|NUDT2_ENST00000346365.4_Missense_Mutation_p.T71I NM_001161.4 NP_001152.1 P50583 AP4A_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 2 71 Nudix hydrolase. induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding lung(3) 3 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) GGCCAGCTGACCATTATTGAG 0.507000 94 24 0 0 1 0 0 HTR1A 3350 broad.mit.edu 37 5 63256279 63256279 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:63256279C>T ENST00000323865.3 - 1 1501 c.1268G>A c.(1267-1269)tGa>tAa p.*423* RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 0 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CCTCCGTCATCACTGGCGGCA 0.478000 55 146 0 0 1 0 0 PPP1CA 5499 broad.mit.edu 37 11 67167056 67167056 + Nonsense_Mutation SNP C C A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:67167056C>A ENST00000376745.4 - 4 647 c.499G>T c.(499-501)Gaa>Taa p.E167* PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000312989.7_Nonsense_Mutation_p.E178*|PPP1CA_ENST00000358239.4_Nonsense_Mutation_p.E123* NM_001008709.1|NM_002708.3 NP_001008709.1|NP_002699.1 P62136 PP1A_HUMAN protein phosphatase 1, catalytic subunit, alpha isozyme 167 cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity breast(1)|lung(2)|pancreas(1)|urinary_tract(3) 7 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) AAGATCTTTTCGTCCACTATG 0.597000 22 39 2.44723e-14 2.46789e-14 1 1 0 ABCC3 8714 broad.mit.edu 37 17 48761318 48761318 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:48761318C>T ENST00000285238.8 + 28 4043 c.3963C>T c.(3961-3963)atC>atT p.I1321I NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1321 ABC transporter 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) AGGTGGGGATCGTGGGCCGCA 0.612000 19 26 0 0 1 0 0 ATP6V0A1 535 broad.mit.edu 37 17 40618525 40618525 + Splice_Site SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:40618525C>T ENST00000343619.4 + 3 319 c.196_splice c.e3+1 p.R66_splice ATP6V0A1_ENST00000393829.2_Splice_Site_p.R66_splice|ATP6V0A1_ENST00000264649.6_Splice_Site_p.R66_splice|ATP6V0A1_ENST00000537728.1_Splice_Site_p.R66_splice|ATP6V0A1_ENST00000585525.1_Splice_Site_p.R66_splice|ATP6V0A1_ENST00000546249.1_Splice_Site_p.R66_splice|ATP6V0A1_ENST00000544137.1_Intron NM_001130021.1 NP_001123493.1 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 66 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3) 26 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) TCGAAAGCTTCGTATGTGCAC 0.318000 39 47 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 118199193 118199193 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:118199193G>A ENST00000425217.1 - 4 576 c.522C>T c.(520-522)tcC>tcT p.S174S KSR2_ENST00000339824.5_Silent_p.S203S NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 203 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGACGCACTTGGACGGGACCC 0.677000 24 19 0 0 1 0 0 CDKL5 6792 broad.mit.edu 37 X 18622845 18622845 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:18622845C>T ENST00000379989.3 + 13 2086 c.1801C>T c.(1801-1803)Ccc>Tcc p.P601S CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.P601S NM_001037343.1 NP_001032420.1 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 601 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) CTACACCAGCCCCTTTTCTTC 0.512000 112 17 0 0 1 0 0 SLC4A1 6521 broad.mit.edu 37 17 42340231 42340231 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:42340231C>T ENST00000262418.6 - 2 159 c.4G>A c.(4-6)Gag>Aag p.E2K AC003043.1_ENST00000597382.1_Intron NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 2 bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) TGCAGCTCCTCCATGGCGTGG 0.637000 75 72 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237947150 237947150 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:237947150G>A ENST00000366574.2 + 90 12455 c.12138G>A c.(12136-12138)agG>agA p.R4046R RYR2_ENST00000360064.6_Silent_p.R4052R|RYR2_ENST00000542537.1_Silent_p.R4030R NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4046 EF-hand. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTTCCAAGAGGGACTTCCACA 0.423000 15 25 0 0 1 0 0 PABPN1L 390748 broad.mit.edu 37 16 88931526 88931526 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:88931526C>T ENST00000419291.2 - 4 481 c.470G>A c.(469-471)gGg>gAg p.G157E PABPN1L_ENST00000411789.2_Missense_Mutation_p.G157E|PABPN1L_ENST00000427766.1_Intron|PABPN1L_ENST00000378358.4_Missense_Mutation_p.G157E NM_001080487.2 NP_001073956.2 A6NDY0 EPAB2_HUMAN poly(A) binding protein, nuclear 1-like (cytoplasmic) 157 RRM. cytoplasm nucleotide binding|RNA binding kidney(1) 1 GGCGGAGCCCCCGTAGTCCAC 0.637000 6 10 0 0 1 0 0 PTPN21 11099 broad.mit.edu 37 14 88936315 88936315 + Missense_Mutation SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:88936315A>G ENST00000556564.1 - 16 3235 c.2951T>C c.(2950-2952)aTg>aCg p.M984T PTPN21_ENST00000328736.3_Missense_Mutation_p.M984T NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 984 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 TTCCCATACCATCTGCCAAAA 0.403000 40 36 0 0 1 0 0 KIAA1804 84451 broad.mit.edu 37 1 233490631 233490631 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:233490631C>T ENST00000366624.3 + 4 1446 c.1185C>T c.(1183-1185)ctC>ctT p.L395L MLK4_ENST00000366623.3_Silent_p.L395L NM_032435.2 NP_115811.2 CCTTAATTCTCGAACAGTTGA 0.383000 57 71 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189873729 189873729 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:189873729C>T ENST00000304636.3 + 48 3775 c.3605C>T c.(3604-3606)gCc>gTc p.A1202V COL3A1_ENST00000317840.5_Missense_Mutation_p.A899V NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1202 Nonhelical region (C-terminal). axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GGTGTTGGAGCCGCTGCCATT 0.542000 103 53 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19656040 19656040 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:19656040C>T ENST00000586018.1 + 8 2806 c.2704C>T c.(2704-2706)Cac>Tac p.H902Y CILP2_ENST00000291495.4_Missense_Mutation_p.H896Y Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 896 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 GACTGCCAGCCACTTCCGCTT 0.692000 23 41 0 0 1 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44221314 44221314 + Silent SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:44221314T>C ENST00000371554.1 + 12 2368 c.2154T>C c.(2152-2154)tcT>tcC p.S718S HSP90AB1_ENST00000371646.5_Silent_p.S718S|HSP90AB1_ENST00000353801.3_Silent_p.S718S P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 718 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AGGATGCGTCTCGCATGGAAG 0.517000 OREG0017471 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 80 0 0 1 0 0 FAM65C 140876 broad.mit.edu 37 20 49211993 49211993 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr20:49211993C>T ENST00000327979.2 - 16 2362 c.1951G>A c.(1951-1953)Gaa>Aaa p.E651K FAM65C_ENST00000535356.1_Missense_Mutation_p.E655K|FAM65C_ENST00000045083.2_Missense_Mutation_p.E651K Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 651 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCCACTTCTTCCAGGAGGCAT 0.517000 79 86 0 0 1 0 0 DEPDC1 55635 broad.mit.edu 37 1 68944879 68944879 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:68944879G>A ENST00000456315.2 - 10 2174 c.2060C>T c.(2059-2061)tCt>tTt p.S687F DEPDC1_ENST00000370966.5_Missense_Mutation_p.S403F|RP4-694A7.2_ENST00000425820.1_RNA NM_001114120.1 NP_001107592.1 Q5TB30 DEP1A_HUMAN DEP domain containing 1 687 intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) CTGTAAGTAAGAGGGTACTTG 0.373000 34 39 0 0 1 0 0 DAP3 7818 broad.mit.edu 37 1 155697499 155697499 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:155697499C>T ENST00000368336.5 + 7 697 c.573C>T c.(571-573)ttC>ttT p.F191F MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000535183.1_Silent_p.F150F|DAP3_ENST00000343043.3_Silent_p.F191F|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000471214.1_3'UTR|DAP3_ENST00000421487.2_Silent_p.F157F NM_001199849.1|NM_004632.3 NP_001186778.1|NP_004623.1 P51398 RT29_HUMAN death associated protein 3 191 induction of apoptosis by extracellular signals mitochondrial ribosome|nucleolus|small ribosomal subunit protein binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 24 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) TGAAGAATTTCAAAACTACAA 0.448000 47 69 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55106194 55106194 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:55106194G>A ENST00000453777.1 + 4 305 c.135G>A c.(133-135)gtG>gtA p.V45V LILRA1_ENST00000251372.3_Silent_p.V45V|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 45 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) GGAGTCCCGTGACCCTCTGGT 0.542000 68 78 0 0 1 0 0 CEL 1056 broad.mit.edu 37 9 135945903 135945903 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr9:135945903C>T ENST00000372080.4 + 10 1367 c.1351C>T c.(1351-1353)Ccc>Tcc p.P451S CEL_ENST00000351304.7_Intron NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 448 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) GCCCGTCTACCCCAAATGGGT 0.617000 49 15 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73676435 73676435 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:73676435C>T ENST00000264448.6 + 8 2889 c.2778C>T c.(2776-2778)ttC>ttT p.F926F ALMS1_ENST00000409009.1_Silent_p.F884F|ALMS1_ENST00000377715.1_Silent_p.F926F NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 926 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 ACTTTCTTTTCCCTGAAGAAG 0.468000 46 77 0 0 1 0 0 SAGE1 55511 broad.mit.edu 37 X 134993468 134993468 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:134993468C>T ENST00000535938.1 + 17 2290 c.2123C>T c.(2122-2124)tCa>tTa p.S708L SAGE1_ENST00000537770.1_Missense_Mutation_p.S332L|SAGE1_ENST00000370709.3_Missense_Mutation_p.S708L|SAGE1_ENST00000324447.3_Missense_Mutation_p.S708L NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 708 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) GCTGGTATTTCATGCAGAAGT 0.458000 74 10 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144943093 144943093 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:144943093G>A ENST00000525985.1 - 2 4400 c.4329C>T c.(4327-4329)gaC>gaT p.D1443D P58107 EPIPL_HUMAN epiplakin 1 1443 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CGGTGTGGTCGTCCACCTCAA 0.617000 26 49 0 0 1 0 0 BRD1 23774 broad.mit.edu 37 22 50217206 50217206 + Missense_Mutation SNP C C T rs147334124 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr22:50217206C>T ENST00000216267.8 - 1 1246 c.760G>A c.(760-762)Ggc>Agc p.G254S BRD1_ENST00000457780.2_Missense_Mutation_p.G254S|BRD1_ENST00000404760.1_Missense_Mutation_p.G254S|BRD1_ENST00000404034.1_Missense_Mutation_p.G254S NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 254 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) AGCCACTGGCCCTCGGGGATG 0.637000 52 29 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 4 67 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72267064 72267064 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:72267064C>T ENST00000340726.3 - 3 716 c.77G>A c.(76-78)gGt>gAt p.G26D EYA1_ENST00000388743.2_Missense_Mutation_p.G26D|EYA1_ENST00000388742.4_Missense_Mutation_p.G26D|EYA1_ENST00000303824.7_Missense_Mutation_p.G26D|EYA1_ENST00000388741.2_Intron|EYA1_ENST00000419131.1_Missense_Mutation_p.G26D|EYA1_ENST00000388740.3_Intron NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 26 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) ATGAGAGTTACCGAGTTTGGG 0.463000 107 153 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179650464 179650464 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:179650464C>T ENST00000589042.1 - 15 2600 c.2376G>A c.(2374-2376)aaG>aaA p.K792K TTN_ENST00000591111.1_Silent_p.K792K|TTN_ENST00000359218.5_Silent_p.K746K|TTN_ENST00000342992.6_Silent_p.K792K|TTN_ENST00000460472.2_Silent_p.K746K|TTN_ENST00000342175.6_Silent_p.K746K|TTN_ENST00000360870.5_Silent_p.K792K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 792 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGTAGTTTTCTTGATCTGCA 0.418000 66 46 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10405196 10405196 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:10405196G>A ENST00000226207.5 - 25 3238 c.3144C>T c.(3142-3144)atC>atT p.I1048I CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1048 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GATCCATCCGGATTTTCTTTT 0.348000 13 30 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14763884 14763884 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr18:14763884G>A ENST00000358984.4 + 7 1200 c.1020G>A c.(1018-1020)ttG>ttA p.L340L ANKRD30B_ENST00000447268.2_Silent_p.L340L|ANKRD30B_ENST00000579292.1_Intron NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 340 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 GGAAAATTTTGAGGCCTACAA 0.403000 16 20 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38592577 38592577 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:38592577G>A ENST00000413689.1 - 28 5479 c.5286C>T c.(5284-5286)atC>atT p.I1762I SCN5A_ENST00000425664.1_Silent_p.I1744I|SCN5A_ENST00000414099.2_Silent_p.I1744I|SCN5A_ENST00000423572.2_Silent_p.I1761I|SCN5A_ENST00000455624.2_Silent_p.I1729I|SCN5A_ENST00000451551.2_Silent_p.I1708I|SCN5A_ENST00000333535.4_Silent_p.I1762I|SCN5A_ENST00000450102.2_Silent_p.I1708I|SCN5A_ENST00000443581.1_Silent_p.I1761I|SCN5A_ENST00000449557.2_Silent_p.I1708I NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1762 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TGTTGACCACGATGAGGAAGG 0.572000 62 69 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32026129 32026129 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:32026129C>T ENST00000375244.3 - 22 7732 c.7531G>A c.(7531-7533)Gaa>Aaa p.E2511K TNXB_ENST00000375247.2_Missense_Mutation_p.E2511K P22105 TENX_HUMAN tenascin XB 2571 Fibronectin type-III 17. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GTGCCTGGTTCTGTAGGGCTG 0.592000 18 31 0 0 1 0 0 EEF2 1938 broad.mit.edu 37 19 3980661 3980661 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:3980661G>A ENST00000309311.6 - 9 1285 c.1197C>T c.(1195-1197)tcC>tcT p.S399S NM_001961.3 NP_001952.1 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 399 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) GCACCATTTTGGAAATATACA 0.532000 24 34 0 0 1 0 0 LY9 4063 broad.mit.edu 37 1 160788098 160788098 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:160788098G>A ENST00000263285.5 + 6 1463 c.1433G>A c.(1432-1434)cGa>cAa p.R478Q LY9_ENST00000341032.4_Missense_Mutation_p.R388Q|LY9_ENST00000368040.1_Missense_Mutation_p.R130Q|LY9_ENST00000368041.2_Missense_Mutation_p.R348Q|LY9_ENST00000368035.1_Missense_Mutation_p.R130Q NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 478 cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) ATTTGGAAGCGAAAAGGACGG 0.522000 28 30 0 0 1 0 0 LOXL4 84171 broad.mit.edu 37 10 100013540 100013540 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:100013540C>T ENST00000260702.3 - 11 1755 c.1605G>A c.(1603-1605)ctG>ctA p.L535L RP11-34A14.3_ENST00000433374.1_RNA NM_032211.6 NP_115587.6 Q96JB6 LOXL4_HUMAN lysyl oxidase-like 4 535 Lysyl-oxidase like. extracellular space|membrane copper ion binding|protein binding|scavenger receptor activity breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2) 26 Colorectal(252;0.234) Epithelial(162;2.14e-11)|all cancers(201;2.49e-09) CGTTCATCACCAGGTCTGGTG 0.622000 25 7 0 0 1 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69095033 69095033 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:69095033C>T ENST00000332644.5 - 8 1049 c.888G>A c.(886-888)atG>atA p.M296I NM_182502.3 NP_872308.2 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 296 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 CTGAGAGCTTCATTTTGGCTT 0.378000 44 62 0 0 1 0 0 TMEM92 162461 broad.mit.edu 37 17 48356586 48356586 + Missense_Mutation SNP C C A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:48356586C>A ENST00000300433.3 + 6 507 c.397C>A c.(397-399)Ccc>Acc p.P133T TMEM92_ENST00000507382.1_Missense_Mutation_p.P133T NM_001168215.1 NP_001161687.1 Q6UXU6 TMM92_HUMAN transmembrane protein 92 133 Pro-rich. integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1) 7 GGGCCCAACTCCCACAGAGCC 0.607000 110 202 4.09656e-53 4.17178e-53 1 1 0 FPR1 2357 broad.mit.edu 37 19 52249975 52249975 + Nonsense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:52249975C>T ENST00000595042.1 - 3 414 c.273G>A c.(271-273)tgG>tgA p.W91* FPR1_ENST00000304748.4_Nonsense_Mutation_p.W91* NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 91 activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) AGCCGAAAGGCCAATGTCCTC 0.522000 39 63 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179604915 179604915 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:179604915C>T ENST00000444136.1 + 9 1663 c.1413C>T c.(1411-1413)tcC>tcT p.S471S TDRD5_ENST00000294848.8_Silent_p.S471S|TDRD5_ENST00000367614.1_Silent_p.S471S NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 471 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 ACACCAGTTCCCTCATAGGGG 0.458000 34 47 0 0 1 0 0 HLA-B 3106 broad.mit.edu 37 6 31323289 31323289 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:31323289G>A ENST00000412585.2 - 4 728 c.700C>T c.(700-702)Cct>Tct p.P234S NM_005514.6 NP_005505.2 major histocompatibility complex, class I, B p.P234A(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2) 27 ATCTCCGCAGGGTAGAAACCC 0.582000 Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of 52 102 0 0 1 0 0 CDKL5 6792 broad.mit.edu 37 X 18622846 18622846 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:18622846C>T ENST00000379989.3 + 13 2087 c.1802C>T c.(1801-1803)cCc>cTc p.P601L CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.P601L NM_001037343.1 NP_001032420.1 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 601 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) TACACCAGCCCCTTTTCTTCC 0.512000 113 17 0 0 1 0 0 F11 2160 broad.mit.edu 37 4 187194302 187194302 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:187194302C>T ENST00000264692.4 + 4 629 c.296C>T c.(295-297)tCt>tTt p.S99F F11_ENST00000403665.2_Missense_Mutation_p.S99F|F11_ENST00000492972.2_Missense_Mutation_p.S99F P03951 FA11_HUMAN coagulation factor XI 99 Apple 1. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity p.S99F(1) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) TCTGGGTATTCTTTCAAGCAA 0.383000 33 38 0 0 1 0 0 ANKRD34A 284615 broad.mit.edu 37 1 145473962 145473962 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:145473962G>A ENST00000323397.4 + 4 1927 c.634G>A c.(634-636)Gac>Aac p.D212N NM_001039888.2 NP_001034977.1 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34A 212 p.D212Y(1) endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 20 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGAGAAGCGGGACGTATTTGA 0.602000 64 91 0 0 1 0 0 DTL 51514 broad.mit.edu 37 1 212273911 212273911 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:212273911C>T ENST00000366991.4 + 14 1893 c.1579C>T c.(1579-1581)Ccg>Tcg p.P527S DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.P485S NM_016448.2 NP_057532.2 Q9NZJ0 DTL_HUMAN denticleless E3 ubiquitin protein ligase homolog (Drosophila) 527 DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane protein binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102) GATCATGTCTCCGAGAAAAGC 0.488000 32 57 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17108134 17108134 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:17108134C>T ENST00000443236.1 - 11 1054 c.1023G>A c.(1021-1023)cgG>cgA p.R341R CPAMD8_ENST00000388925.4_Silent_p.R294R NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 294 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 TGTCGAAGTCCCGGGAGCCGA 0.602000 5 10 0 0 1 0 0 TTC17 55761 broad.mit.edu 37 11 43380505 43380505 + Translation_Start_Site SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:43380505A>G ENST00000039989.4 + 1 15 c.1A>G c.(1-3)Atg>Gtg p.M1V TTC17_ENST00000299240.6_Start_Codon_SNP_p.M1V|RP11-484D2.2_ENST00000526220.1_RNA NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 1 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 GGGGGGCAAGATGGCGGCGGC 0.706000 12 4 0 0 1 0 0 C2CD3 26005 broad.mit.edu 37 11 73759262 73759262 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:73759262G>A ENST00000334126.7 - 28 5709 c.5483C>T c.(5482-5484)tCc>tTc p.S1828F C2CD3_ENST00000313663.7_Missense_Mutation_p.S1828F Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1828 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) CCCAGGAGAGGAGAAATCAAG 0.458000 13 17 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56423667 56423667 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:56423667C>T ENST00000588751.1 - 5 1540 c.1516G>A c.(1516-1518)Gag>Aag p.E506K NLRP13_ENST00000342929.3_Missense_Mutation_p.E506K Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 506 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TCCAGGCCCTCGATCTCAGTG 0.473000 35 58 0 0 1 0 0 GLYCTK 132158 broad.mit.edu 37 3 52324415 52324415 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:52324415C>T ENST00000354773.4 + 2 153 c.57C>T c.(55-57)ctC>ctT p.L19L GLYCTK_ENST00000473032.1_Silent_p.L19L|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000477382.1_Silent_p.L19L|GLYCTK_ENST00000461183.1_Intron|GLYCTK_ENST00000436784.2_Silent_p.L19L|GLYCTK_ENST00000471180.1_Intron|GLYCTK_ENST00000305690.8_Silent_p.L19L NM_001144951.1 NP_001138423.1 Q8IVS8 GLCTK_HUMAN glycerate kinase 19 protein phosphorylation Golgi apparatus|mitochondrion ATP binding|glycerate kinase activity|protein binding p.L19L(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 9 BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235) TGCATCCACTCCTCTGGCGGG 0.682000 12 37 0 0 1 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64600308 64600308 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:64600308C>T ENST00000342711.5 - 25 2854 c.2855G>A c.(2854-2856)gGc>gAc p.G952D NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 952 PH. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 CGACAGAAAGCCCTCATAGGC 0.692000 4 6 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1261264 1261264 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:1261264C>T ENST00000348261.5 + 22 4568 c.4320C>T c.(4318-4320)ttC>ttT p.F1440F CACNA1H_ENST00000358590.4_Silent_p.F1440F|CACNA1H_ENST00000565831.1_Silent_p.F1440F NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 1440 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GCTGCGCCTTCTTCATCATTT 0.632000 62 81 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9059304 9059304 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:9059304G>A ENST00000397910.4 - 3 28345 c.28142C>T c.(28141-28143)aCc>aTc p.T9381I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9383 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAAGGTAAAGGTACCCTGCGA 0.507000 65 95 0 0 1 0 0 PRDM10 56980 broad.mit.edu 37 11 129814821 129814821 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:129814821G>A ENST00000358825.5 - 6 838 c.607C>T c.(607-609)Cgg>Tgg p.R203W PRDM10_ENST00000360871.3_Missense_Mutation_p.R203W|PRDM10_ENST00000423662.2_Missense_Mutation_p.R117W|PRDM10_ENST00000528746.1_Missense_Mutation_p.R177W|PRDM10_ENST00000304538.6_Missense_Mutation_p.R117W|PRDM10_ENST00000526082.1_Missense_Mutation_p.R117W NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 203 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R203W(1) breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) GCCCTGGCCCGGGTGAGCACC 0.642000 49 61 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38819412 38819412 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:38819412G>A ENST00000359357.3 + 37 5031 c.4777G>A c.(4777-4779)Gaa>Aaa p.E1593K DNAH8_ENST00000449981.2_Missense_Mutation_p.E1810K|DNAH8_ENST00000441566.1_Missense_Mutation_p.E1593K 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 AGTTCTCCTGGAAATTCTTGG 0.373000 22 46 0 0 1 0 0 PRKAG2 51422 broad.mit.edu 37 7 151273500 151273500 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:151273500G>A ENST00000287878.4 - 7 1407 c.903C>T c.(901-903)gtC>gtT p.V301V PRKAG2_ENST00000433631.2_Silent_p.V176V|PRKAG2_ENST00000418337.2_Silent_p.V60V|PRKAG2_ENST00000392801.2_Silent_p.V257V|PRKAG2_ENST00000492843.1_Silent_p.V177V NM_016203.3 NP_057287.2 Q9UGJ0 AAKG2_HUMAN protein kinase, AMP-activated, gamma 2 non-catalytic subunit 301 CBS 1. 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) GCGCTGCTCGGACACCGTTGG 0.413000 19 18 0 0 1 0 0 SPTBN1 6711 broad.mit.edu 37 2 54873332 54873332 + Splice_Site SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:54873332C>T ENST00000333896.5 + 22 4932 c.4545_splice c.e22-1 p.T1516_splice SPTBN1_ENST00000356805.4_Splice_Site_p.T1529_splice NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 1529 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) TCCCTCCAGACCCTCCAGAAA 0.527000 82 124 0 0 1 0 0 CHRNB4 1143 broad.mit.edu 37 15 78927929 78927929 + Splice_Site SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr15:78927929C>T ENST00000261751.3 - 2 167 c.55_splice c.e2-1 p.G19_splice CHRNB4_ENST00000412074.2_Splice_Site_p.G19_splice|CHRNB4_ENST00000560511.1_5'UTR NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 19 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 GCGGCAGTTCCCTGAGAAAAC 0.592000 122 182 0 0 1 0 0 RAF1 5894 broad.mit.edu 37 3 12641300 12641300 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:12641300C>T ENST00000251849.4 - 10 1437 c.998G>A c.(997-999)cGt>cAt p.R333H RAF1_ENST00000534997.1_Missense_Mutation_p.R118H|RAF1_ENST00000442415.2_Missense_Mutation_p.R353H|RAF1_ENST00000542177.1_Missense_Mutation_p.R252H NM_002880.3 NP_002871.1 P04049 RAF1_HUMAN v-raf-1 murine leukemia viral oncogene homolog 1 333 activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 32 Sorafenib(DB00398) TCTCTGTCCACGAGGCCTCTG 0.408000 T SRGAP3 pilocytic astrocytoma Noonan syndrome 19 71 0 0 1 0 0 BRD1 23774 broad.mit.edu 37 22 50187788 50187788 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr22:50187788G>A ENST00000216267.8 - 6 2739 c.2253C>T c.(2251-2253)ctC>ctT p.L751L BRD1_ENST00000342989.5_Silent_p.L346L|BRD1_ENST00000542442.1_Silent_p.L439L|BRD1_ENST00000457780.2_Silent_p.L751L|BRD1_ENST00000404760.1_Silent_p.L751L|BRD1_ENST00000404034.1_Silent_p.L751L NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 751 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) GCTTGTTTCGGAGAAGGGCAA 0.642000 31 68 0 0 1 0 0 MLLT4 4301 broad.mit.edu 37 6 168312101 168312101 + Missense_Mutation SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:168312101A>G ENST00000366806.2 + 15 2111 c.1969A>G c.(1969-1971)Aca>Gca p.T657A MLLT4_ENST00000447894.2_Missense_Mutation_p.T657A|MLLT4_ENST00000392112.1_Missense_Mutation_p.T641A|MLLT4_ENST00000351017.4_Missense_Mutation_p.T657A|MLLT4_ENST00000400822.3_Missense_Mutation_p.T656A|MLLT4_ENST00000392108.3_Missense_Mutation_p.T657A|MLLT4_ENST00000344191.4_Missense_Mutation_p.T657A P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 657 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) CATCAGCCCTACAGAGCGCAC 0.483000 T MLL AL 24 44 0 0 1 0 0 YY2 404281 broad.mit.edu 37 X 21875397 21875397 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:21875397C>T ENST00000429584.2 + 1 1293 c.795C>T c.(793-795)ttC>ttT p.F265F MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron NM_206923.3 NP_996806.2 O15391 TYY2_HUMAN YY2 transcription factor 265 Mediates transcriptional repression. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 19 AAAAGATGTTCCGGGATTACG 0.488000 149 16 0 0 1 0 0 PCDHB13 56123 broad.mit.edu 37 5 140594475 140594475 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:140594475C>T ENST00000341948.4 + 1 967 c.780C>T c.(778-780)ttC>ttT p.F260F NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 260 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGTAGGCTTCCTGGTTGTGA 0.473000 52 131 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157516962 157516962 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:157516962G>A ENST00000361835.3 - 3 235 c.78C>T c.(76-78)ttC>ttT p.F26F FCRL5_ENST00000356953.4_Silent_p.F26F|FCRL5_ENST00000368189.3_Silent_p.F26F|FCRL5_ENST00000368188.2_Silent_p.F26F|FCRL5_ENST00000368190.3_Silent_p.F26F|FCRL5_ENST00000368191.3_Intron NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 26 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity p.F26L(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) GAGGCTGGAGGAAAATAATGG 0.537000 54 79 0 0 1 0 0 TMEM145 284339 broad.mit.edu 37 19 42828940 42828940 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:42828940C>T ENST00000301204.3 + 15 1494 c.1453C>T c.(1453-1455)Cgg>Tgg p.R485W NM_173633.2 NP_775904.2 Q8NBT3 TM145_HUMAN transmembrane protein 145 485 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) CCGTGACCTCCGGCCCCCTGG 0.726000 17 17 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126882995 126882995 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:126882995C>T ENST00000339582.2 - 2 1072 c.264G>A c.(262-264)aaG>aaA p.K88K GRM8_ENST00000405249.1_Silent_p.K88K|GRM8_ENST00000358373.3_Silent_p.K88K|GRM8_ENST00000444921.2_Silent_p.K88K O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 88 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) GATCAGGGTCCTTGTTAATCT 0.522000 HNSCC(24;0.065) 17 31 0 0 1 0 0 CYP2C8 1558 broad.mit.edu 37 10 96796894 96796894 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:96796894G>A ENST00000371270.3 - 9 1558 c.1464C>T c.(1462-1464)atC>atT p.I488I CYP2C8_ENST00000535898.1_Silent_p.I386I NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 488 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) TTCAGACAGGGATGAAGCAGA 0.428000 30 6 0 0 1 0 0 LHFPL5 222662 broad.mit.edu 37 6 35773582 35773582 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:35773582C>T ENST00000360215.1 + 1 512 c.135C>T c.(133-135)atC>atT p.I45I LHFPL5_ENST00000373853.1_Silent_p.I45I NM_182548.3 NP_872354.1 Q8TAF8 TMHS_HUMAN lipoma HMGIC fusion partner-like 5 45 integral to membrane endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1) 20 CCCTCTTCATCCAGCCCTACT 0.582000 92 159 0 0 1 0 0 HMOX2 3163 broad.mit.edu 37 16 4559640 4559640 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:4559640G>A ENST00000570646.1 + 6 1439 c.834G>A c.(832-834)gaG>gaA p.E278E HMOX2_ENST00000575120.1_Silent_p.E249E|HMOX2_ENST00000414777.1_Silent_p.E278E|HMOX2_ENST00000458134.3_Silent_p.E278E|HMOX2_ENST00000398595.3_Silent_p.E278E|HMOX2_ENST00000219700.6_Silent_p.E278E|HMOX2_ENST00000406590.2_Silent_p.E278E NM_002134.3 NP_002125.3 P30519 HMOX2_HUMAN heme oxygenase (decycling) 2 278 cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport endoplasmic reticulum membrane|microsome|plasma membrane electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 NADH(DB00157) GTGCCCTGGAGGGCAGCAGCT 0.617000 52 93 0 0 1 0 0 RSRC1 51319 broad.mit.edu 37 3 158261191 158261191 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:158261191C>T ENST00000464171.1 + 8 778 c.653C>T c.(652-654)cCa>cTa p.P218L RSRC1_ENST00000312179.6_Missense_Mutation_p.P218L|RSRC1_ENST00000295930.3_Missense_Mutation_p.P276L|RSRC1_ENST00000480820.1_Missense_Mutation_p.P276L|RSRC1_ENST00000475278.2_Intron NM_001271834.1 NP_001258763.1 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 276 nucleocytoplasmic transport cytoplasm|nuclear speck protein binding cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 18 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) GTTGCTGATCCACCCAGTACT 0.408000 33 44 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33338002 33338002 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr20:33338002G>A ENST00000374796.2 - 10 4566 c.1996C>T c.(1996-1998)Ccg>Tcg p.P666S NCOA6_ENST00000359003.2_Missense_Mutation_p.P666S Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 666 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 TTTTGGCTCGGGGGGTTCACC 0.567000 45 54 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16945385 16945385 + RNA SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:16945385G>A ENST00000412962.1 - 0 2134 CCGCCAGATGGGATGCTGGAA 0.602000 6 39 0 0 1 0 0 OR8S1 341568 broad.mit.edu 37 12 48921815 48921815 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:48921815C>T ENST00000310194.1 + 2 1009 c.1009C>T c.(1009-1011)Ccg>Tcg p.P337S OR8S1_ENST00000551654.1_3'UTR NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 337 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 GCTGAGCATTCCGGTCACGCC 0.677000 6 15 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109661650 109661650 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:109661650G>A ENST00000338432.7 + 27 3942 c.3823G>A c.(3823-3825)Gac>Aac p.D1275N ACACB_ENST00000377854.5_Missense_Mutation_p.D1205N|ACACB_ENST00000377848.3_Missense_Mutation_p.D1275N O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1275 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) AACCATCTTCGACGTCCTGCC 0.428000 156 143 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 100126624 100126624 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:100126624C>T ENST00000524871.1 + 17 2428 c.2138C>T c.(2137-2139)tCc>tTc p.S713F CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.S713F|CNTN5_ENST00000279463.3_Missense_Mutation_p.S713F|CNTN5_ENST00000418526.2_Missense_Mutation_p.S639F|CNTN5_ENST00000527185.1_Missense_Mutation_p.S713F NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 713 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AGCCCATTTTCCCTGGGCTGG 0.493000 30 47 0 0 1 0 0 MTMR2 8898 broad.mit.edu 37 11 95598807 95598807 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:95598807C>T ENST00000393223.3 - 5 666 c.4G>A c.(4-6)Gaa>Aaa p.E2K MTMR2_ENST00000409459.1_Missense_Mutation_p.E2K|MTMR2_ENST00000352297.7_Missense_Mutation_p.E2K|MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000346299.5_Missense_Mutation_p.E74K NM_001243571.1|NM_201278.2 NP_001230500.1|NP_958435.1 Q13614 MTMR2_HUMAN myotubularin related protein 2 74 nucleus inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GGTGGTTCTTCCATTTCTGCT 0.383000 69 85 0 0 1 0 0 RP11-909M7.3 0 broad.mit.edu 37 14 101435304 101435304 + RNA SNP A A C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:101435304A>C ENST00000554693.2 + 0 212 SNORD114-12_ENST00000365400.1_RNA GATGACAAATACCGGCGTATG 0.353000 20 58 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196791224 196791224 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:196791224C>T ENST00000312428.6 - 22 3638 c.3538G>A c.(3538-3540)Gga>Aga p.G1180R NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1180 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ACAGTCTGTCCAGGCCAATCC 0.363000 33 80 0 0 1 0 0 F10 2159 broad.mit.edu 37 13 113798329 113798329 + Missense_Mutation SNP A A C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr13:113798329A>C ENST00000375559.3 + 6 705 c.667A>C c.(667-669)Acg>Ccg p.T223P F10_ENST00000409306.1_Missense_Mutation_p.T223P|F10_ENST00000375551.3_Missense_Mutation_p.T223P NM_000504.3 NP_000495.1 P00742 FA10_HUMAN coagulation factor X 223 blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 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;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) CTTCAACCAGACGCAGCCTGA 0.612000 28 115 0 0 1 0 0 SLC16A2 6567 broad.mit.edu 37 X 73641833 73641833 + Missense_Mutation SNP G G T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:73641833G>T ENST00000276033.5 + 1 749 c.583G>T c.(583-585)Gtc>Ttc p.V195F SLC16A2_ENST00000587091.1_Missense_Mutation_p.V121F P36021 MOT8_HUMAN solute carrier family 16, member 2 (thyroid hormone transporter) 121 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 21 Pyruvic acid(DB00119) CCATAACTCTGTCGGGATCCT 0.602000 13 1 7.93312e-07 7.95874e-07 1 1 0 HCLS1 3059 broad.mit.edu 37 3 121354584 121354584 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:121354584G>A ENST00000314583.3 - 9 780 c.689C>T c.(688-690)gCc>gTc p.A230V HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.A193V NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 230 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) AGCCTCACCGGCTTCTATGGG 0.512000 49 57 0 0 1 0 0 MT-ND5 4540 broad.mit.edu 37 MT 13851 13851 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrM:13851C>T ENST00000361567.2 + 1 1515 c.1515C>T c.(1513-1515)aaC>aaT p.N505N P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 505 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) CTAGACCTCAACTACCTAACC 0.463000 70 80 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196659125 196659125 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:196659125G>A ENST00000312428.6 - 57 10753 c.10653C>T c.(10651-10653)atC>atT p.I3551I DNAH7_ENST00000409063.1_Silent_p.I34I NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3551 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATGATCGAATGATATTAGCCC 0.453000 81 66 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11097598 11097598 + RNA SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr21:11097598C>T ENST00000470054.1 - 0 271 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ggggactcctccttcatcagc 0.542000 4 47 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38793944 38793944 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:38793944G>A ENST00000449082.2 - 11 1520 c.1521C>T c.(1519-1521)ttC>ttT p.F507F NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 507 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CAGGGGACCGGAAATGGAACA 0.572000 30 29 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115524003 115524003 + Missense_Mutation SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:115524003T>C ENST00000369522.3 + 29 2669 c.2429T>C c.(2428-2430)tTg>tCg p.L810S SYCP1_ENST00000369518.1_Missense_Mutation_p.L810S|SYCP1_ENST00000477590.1_3'UTR NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 810 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TATTGGAAATTGGATTCTAAA 0.323000 50 55 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168112875 168112875 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:168112875G>A ENST00000519560.1 - 31 3791 c.3372C>T c.(3370-3372)gaC>gaT p.D1124D SLIT3_ENST00000404867.3_Silent_p.D1124D|SLIT3_ENST00000332966.8_Silent_p.D1131D NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1124 EGF-like 6. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACTCGTACTGGTCGCATGGGC 0.642000 10 17 0 0 1 0 0 ADA 100 broad.mit.edu 37 20 43251687 43251687 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr20:43251687G>A ENST00000372874.4 - 7 773 c.639C>T c.(637-639)gtC>gtT p.V213V ADA_ENST00000537820.1_Intron|PKIG_ENST00000372882.3_Intron|ADA_ENST00000464097.1_5'UTR|PKIG_ENST00000372887.1_Intron NM_000022.2 NP_000013.2 P00813 ADA_HUMAN adenosine deaminase 213 adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome adenosine deaminase activity|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1) 18 all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194) CCCCGGCGTGGACAGTACGGT 0.652000 Adenosine Deaminase Deficiency 41 66 0 0 1 0 0 NUP98 4928 broad.mit.edu 37 11 3765828 3765828 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:3765828C>T ENST00000324932.7 - 12 1739 c.1319G>A c.(1318-1320)gGa>gAa p.G440E NUP98_ENST00000397004.4_Missense_Mutation_p.G440E|NUP98_ENST00000397007.4_Missense_Mutation_p.G457E|NUP98_ENST00000359171.4_Missense_Mutation_p.G440E|NUP98_ENST00000355260.3_Missense_Mutation_p.G440E NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 457 Gly/Thr-rich. carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) AAGAGGCCCTCCAATCTTAGG 0.512000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 31 51 0 0 1 0 0 SNAPC4 6621 broad.mit.edu 37 9 139290162 139290162 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr9:139290162G>A ENST00000298532.2 - 3 606 c.238C>T c.(238-240)Cct>Tct p.P80S NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 80 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) GGGTCTTCAGGGAGGGTTTTA 0.567000 183 21 0 0 1 0 0 BICC1 80114 broad.mit.edu 37 10 60461843 60461843 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:60461843G>A ENST00000373886.3 + 3 251 c.247G>A c.(247-249)Gaa>Aaa p.E83K NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 83 multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 GATCATGGAGGAAACAAATAC 0.328000 10 9 0 0 1 0 0 SPICE1 152185 broad.mit.edu 37 3 113184512 113184512 + Missense_Mutation SNP G G C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:113184512G>C ENST00000295872.4 - 11 1534 c.1275C>G c.(1273-1275)aaC>aaG p.N425K NM_144718.3 NP_653319.1 Q8N0Z3 SPICE_HUMAN spindle and centriole associated protein 1 425 cell division|mitosis centriole|spindle protein binding NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 GTGTAGCAGCGTTTTCTTCTC 0.388000 59 86 0 0 1 0 0 SPHK2 56848 broad.mit.edu 37 19 49132706 49132706 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:49132706C>T ENST00000443164.1 + 5 2532 c.1827C>T c.(1825-1827)agC>agT p.S609S SPHK2_ENST00000340932.3_Silent_p.S509S|SPHK2_ENST00000245222.4_Silent_p.S547S|SPHK2_ENST00000599029.1_Silent_p.S511S|SPHK2_ENST00000600537.1_Silent_p.S488S|SPHK2_ENST00000598088.1_Silent_p.S547S|SPHK2_ENST00000599748.1_Silent_p.S511S Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 547 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) TCTCGCCCAGCCACCTAGGCG 0.711000 15 17 0 0 1 0 0 BRWD3 254065 broad.mit.edu 37 X 79947382 79947382 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:79947382G>A ENST00000373275.4 - 30 3637 c.3421C>T c.(3421-3423)Cat>Tat p.H1141Y BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1141 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 TCTCTGGAATGAGCCCCCCAC 0.478000 21 0 0 0 1 0 0 SERPINI2 5276 broad.mit.edu 37 3 167159941 167159941 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:167159941G>A ENST00000476257.1 - 10 1472 c.1174C>T c.(1174-1176)Cct>Tct p.P392S SERPINI2_ENST00000471111.1_Missense_Mutation_p.P392S|SERPINI2_ENST00000264677.4_Missense_Mutation_p.P392S|SERPINI2_ENST00000461846.1_Missense_Mutation_p.P392S O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 392 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 TGGGTGTCAGGATTTGTCACT 0.323000 16 29 0 0 1 0 0 MT-ATP6 4508 broad.mit.edu 37 MT 8947 8947 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrM:8947C>T ENST00000361899.2 + 1 421 c.421C>T c.(421-423)Cta>Tta p.L141L mitochondrially encoded ATP synthase 6 breast(2)|endometrium(7)|kidney(8)|prostate(1) 18 TTATCCCCATACTAGTTATTA 0.483000 82 64 0 0 1 0 0 FOXP1 27086 broad.mit.edu 37 3 71026984 71026984 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:71026984G>A ENST00000318789.4 - 15 1868 c.1343C>T c.(1342-1344)tCg>tTg p.S448L FOXP1_ENST00000498215.1_Missense_Mutation_p.S448L|FOXP1_ENST00000475937.1_Missense_Mutation_p.S448L|FOXP1_ENST00000484350.1_Missense_Mutation_p.S372L|FOXP1_ENST00000491238.1_Missense_Mutation_p.S450L|FOXP1_ENST00000493089.1_Missense_Mutation_p.S448L|FOXP1_ENST00000468577.1_Missense_Mutation_p.S448L NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 448 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA 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|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) TCTACCTGACGAAATGGGCAC 0.488000 T PAX5 ALL 47 67 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189931159 189931159 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:189931159C>T ENST00000374866.3 - 23 1794 c.1520G>A c.(1519-1521)gGt>gAt p.G507D NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 507 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TCCTGGGTCACCTCTGGGACC 0.478000 120 289 0 0 1 0 0 C2orf54 79919 broad.mit.edu 37 2 241829509 241829509 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:241829509C>T ENST00000307486.8 - 3 458 c.360G>A c.(358-360)ctG>ctA p.L120L C2orf54_ENST00000402775.2_Silent_p.L101L|C2orf54_ENST00000388934.4_Silent_p.L269L Q08AI8 CB054_HUMAN chromosome 2 open reading frame 54 269 haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1) 6 all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) AGAGGCTGTCCAGGCGATGAC 0.672000 63 28 0 0 1 0 0 OR8H3 390152 broad.mit.edu 37 11 55889947 55889947 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:55889947C>T ENST00000313472.3 + 1 99 c.99C>T c.(97-99)ctC>ctT p.L33L NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) TGCTATTTCTCCTCATATACC 0.453000 111 149 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140588530 140588530 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:140588530C>T ENST00000239450.2 + 1 240 c.51C>T c.(49-51)ttC>ttT p.F17F PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 17 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.F17L(1) NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCTGCTTTTCTTTGTTTTGC 0.483000 56 44 0 0 1 0 0 ADPRHL2 54936 broad.mit.edu 37 1 36557639 36557639 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:36557639C>T ENST00000373178.4 + 4 675 c.645C>T c.(643-645)ctC>ctT p.L215L NM_017825.2 NP_060295.1 Q9NX46 ARHL2_HUMAN ADP-ribosylhydrolase like 2 215 cytoplasm|nucleus metal ion binding|poly(ADP-ribose) glycohydrolase activity cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1) 8 Myeloproliferative disorder(586;0.0393) TCAAGCAACTCCTGGGCCACA 0.612000 40 50 0 0 1 0 0 TUBB4B 10383 broad.mit.edu 37 9 140137801 140137801 + Silent SNP G G T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr9:140137801G>T ENST00000340384.4 + 4 1279 c.1131G>T c.(1129-1131)ctG>ctT p.L377L NM_006088.5 NP_006079.1 P68371 TBB2C_HUMAN tubulin, beta 4B class IVb 377 'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization cytosol|microtubule GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding TCCAGGAGCTGTTCAAGCGCA 0.592000 171 19 2.21559e-100 2.25924e-100 1 1 0 PRSS35 167681 broad.mit.edu 37 6 84233841 84233841 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:84233841G>A ENST00000536636.1 + 3 1026 c.681G>A c.(679-681)gcG>gcA p.A227A PRSS35_ENST00000369700.3_Silent_p.A227A NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 227 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) GGGAGAGAGCGAAGGGTGGGA 0.542000 24 20 0 0 1 0 0 PARK2 5071 broad.mit.edu 37 6 162206911 162206911 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:162206911G>A ENST00000366898.1 - 7 866 c.764C>T c.(763-765)tCc>tTc p.S255F PARK2_ENST00000366896.1_Missense_Mutation_p.S106F|PARK2_ENST00000338468.3_Missense_Mutation_p.S64F|PARK2_ENST00000366897.1_Missense_Mutation_p.S227F|PARK2_ENST00000366892.1_Missense_Mutation_p.S255F|PARK2_ENST00000366894.1_Missense_Mutation_p.S64F NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase 255 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) CACGTGGCGGGAGTTGCACTG 0.502000 11 8 0 0 1 0 0 GOLGA6L7P 728310 broad.mit.edu 37 15 29091047 29091047 + RNA SNP T T G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr15:29091047T>G ENST00000569815.1 - 0 385 NR_047567.1 TCCACTCACCTCTAGCTGCCT 0.493000 12 3 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76753933 76753933 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr18:76753933C>T ENST00000536229.3 + 1 2252 c.1543C>T c.(1543-1545)Ccg>Tcg p.P515S SALL3_ENST00000575389.2_Missense_Mutation_p.P648S|SALL3_ENST00000537592.2_Missense_Mutation_p.P648S Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 648 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GGCCCAGTTTCCGTTCGGGGG 0.652000 12 2 0 0 1 0 0 ANKRD28 23243 broad.mit.edu 37 3 15762511 15762511 + Missense_Mutation SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:15762511A>G ENST00000399451.2 - 8 1184 c.817T>C c.(817-819)Ttt>Ctt p.F273L ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.F306L NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 273 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 AAAGGAGTAAATCCTTTTTCA 0.393000 80 122 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33133751 33133751 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:33133751C>T ENST00000341947.2 - 62 4666 c.4439G>A c.(4438-4440)gGa>gAa p.G1480E COL11A2_ENST00000357486.1_Missense_Mutation_p.G1459E|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1373E|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1454E|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1433E|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1399E|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1394E|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1420E NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1480 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 TCCCTTGGGTCCGCCTGGGCC 0.597000 9 46 0 0 1 0 0 YIF1B 90522 broad.mit.edu 37 19 38799698 38799698 + Splice_Site SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:38799698C>T ENST00000392124.3 - 3 624 c.e3-1 YIF1B_ENST00000587361.1_Splice_Site|YIF1B_ENST00000591755.1_Splice_Site|YIF1B_ENST00000329420.8_Splice_Site|YIF1B_ENST00000591784.1_Splice_Site|YIF1B_ENST00000592694.1_Splice_Site|YIF1B_ENST00000592246.1_Splice_Site|YIF1B_ENST00000339413.6_Splice_Site|YIF1B_ENST00000337679.8_Splice_Site NM_033557.3 NP_291035.1 Q5BJH7 YIF1B_HUMAN Yip1 interacting factor homolog B (S. cerevisiae) integral to membrane central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1) 10 all_cancers(60;1.07e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CTTCCCAGTCCTGCGGGGATG 0.662000 9 21 0 0 1 0 0 LAD1 3898 broad.mit.edu 37 1 201355545 201355545 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:201355545C>T ENST00000391967.2 - 3 1245 c.944G>A c.(943-945)gGg>gAg p.G315E LAD1_ENST00000367313.3_Missense_Mutation_p.G329E NM_005558.3 NP_005549.2 O00515 LAD1_HUMAN ladinin 1 315 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 CAGGTTCTTCCCAGGGAGGGC 0.677000 36 38 0 0 1 0 0 TECPR2 9895 broad.mit.edu 37 14 102900862 102900862 + Missense_Mutation SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:102900862A>G ENST00000359520.7 + 9 1934 c.1708A>G c.(1708-1710)Atg>Gtg p.M570V TECPR2_ENST00000558678.1_Missense_Mutation_p.M570V NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 570 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 TAGAACTGAAATGCCACACTG 0.532000 19 36 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 124999969 124999969 + Splice_Site SNP G G T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:124999969G>T ENST00000431078.1 + 3 744 c.381_splice c.e3+1 p.W127_splice NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 127 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GACAGCATCTGGGTAGGACAT 0.428000 10 9 4.68919e-08 4.70738e-08 1 1 0 PHF21B 112885 broad.mit.edu 37 22 45309780 45309780 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr22:45309780G>A ENST00000313237.5 - 5 903 c.753C>T c.(751-753)ccC>ccT p.P251P PHF21B_ENST00000403565.1_Silent_p.P47P|PHF21B_ENST00000447824.3_Silent_p.P197P|PHF21B_ENST00000404079.2_Silent_p.P197P|PHF21B_ENST00000396103.3_Silent_p.P209P NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B 251 zinc ion binding p.P251P(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) GCTCCTCTGTGGGCGGCCGCG 0.627000 73 188 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95481655 95481655 + RNA SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:95481655C>T ENST00000432432.2 - 0 1705 NR_040113.1 TGTCATTTTTCATTGTACATA 0.299000 47 97 0 0 1 0 0 CLSTN3 9746 broad.mit.edu 37 12 7288061 7288061 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:7288061C>T ENST00000537408.1 + 3 1096 c.558C>T c.(556-558)tcC>tcT p.S186S CLSTN3_ENST00000266546.6_Silent_p.S174S Q9BQT9 CSTN3_HUMAN calsyntenin 3 174 Cadherin 2. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 GTGACTGCTCCCCCCAGTACA 0.577000 42 82 0 0 1 0 0 SEZ6 124925 broad.mit.edu 37 17 27287921 27287921 + Nonsense_Mutation SNP G G T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:27287921G>T ENST00000317338.12 - 6 1739 c.1311C>A c.(1309-1311)taC>taA p.Y437* SEZ6_ENST00000360295.9_Nonsense_Mutation_p.Y437*|SEZ6_ENST00000442608.3_Nonsense_Mutation_p.Y437*|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Nonsense_Mutation_p.Y437* Q53EL9 SEZ6_HUMAN seizure related 6 homolog (mouse) 437 CUB 1. integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) GGTTGTTGCTGTAGTTGCCCG 0.597000 88 121 6.88379e-33 6.98271e-33 1 1 0 ZNF99 7652 broad.mit.edu 37 19 22941624 22941624 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:22941624G>A ENST00000397104.3 - 5 813 c.814C>T c.(814-816)Cat>Tat p.H272Y ZNF99_ENST00000596209.1_Missense_Mutation_p.H363Y zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TCTTCAGTATGAATTATCTCA 0.363000 45 50 0 0 1 0 0 ADHFE1 137872 broad.mit.edu 37 8 67372616 67372616 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:67372616C>T ENST00000396623.3 + 13 1267 c.1236C>T c.(1234-1236)ttC>ttT p.F412F ADHFE1_ENST00000415254.1_Silent_p.F364F|ADHFE1_ENST00000496501.1_3'UTR|C8orf46_ENST00000482608.2_3'UTR NM_144650.2 NP_653251.2 Q8IWW8 HOT_HUMAN alcohol dehydrogenase, iron containing, 1 412 2-oxoglutarate metabolic process|molecular hydrogen transport mitochondrial matrix hydroxyacid-oxoacid transhydrogenase activity|metal ion binding p.F364F(2) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 29 Lung NSC(129;0.197) Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226) AATTCTTATTCGATCTGGATG 0.537000 OREG0018808 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 89 120 0 0 1 0 0 SPG20 23111 broad.mit.edu 37 13 36888548 36888548 + Missense_Mutation SNP C C A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr13:36888548C>A ENST00000451493.1 - 6 1516 c.1299G>T c.(1297-1299)tgG>tgT p.W433C SPG20_ENST00000355182.4_Missense_Mutation_p.W433C|SPG20_ENST00000438666.2_Missense_Mutation_p.W433C|SPG20_ENST00000494062.2_Missense_Mutation_p.W433C NM_001142295.1 NP_001135767.1 Q8N0X7 SPG20_HUMAN spastic paraplegia 20 (Troyer syndrome) 433 cell death cytoplasm ubiquitin protein ligase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 27 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) CCCAACTCACCCAGGAAGCAC 0.363000 75 58 1.15773e-35 1.17667e-35 1 1 0 OR5P3 120066 broad.mit.edu 37 11 7846728 7846728 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:7846728G>A ENST00000328375.1 - 1 791 c.792C>T c.(790-792)tcC>tcT p.S264S RP11-35J10.5_ENST00000527565.1_lincRNA NM_153445.1 NP_703146.1 Q8WZ94 OR5P3_HUMAN olfactory receptor, family 5, subfamily P, member 3 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 15 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TTGAGTAGCTGGACTTGGGCA 0.522000 42 57 0 0 1 0 0 EPHA10 284656 broad.mit.edu 37 1 38228490 38228490 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:38228490G>A ENST00000373048.4 - 2 137 c.138C>T c.(136-138)gcC>gcT p.A46A EPHA10_ENST00000319637.6_Silent_p.A46A|EPHA10_ENST00000427468.2_Silent_p.A46A NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 46 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AGCCCAGCTCGGCCTGGGAGG 0.532000 4 1 0 0 1 0 0 ATP7B 540 broad.mit.edu 37 13 52523879 52523879 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr13:52523879G>A ENST00000242839.4 - 12 2940 c.2784C>T c.(2782-2784)atC>atT p.I928I ATP7B_ENST00000400366.3_Silent_p.I817I|ATP7B_ENST00000418097.2_Silent_p.I928I|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000400370.3_Silent_p.I498I|ATP7B_ENST00000417240.2_Silent_p.I200I|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000448424.2_Silent_p.I850I NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 928 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) ACATGATGATGATAAATGGGA 0.403000 Wilson disease 48 121 0 0 1 0 0 HIPK1 204851 broad.mit.edu 37 1 114510562 114510562 + Silent SNP C C T rs139567945 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:114510562C>T ENST00000369558.1 + 12 2788 c.2556C>T c.(2554-2556)gtC>gtT p.V852V HIPK1_ENST00000369553.1_Silent_p.V458V|HIPK1_ENST00000340480.4_Silent_p.V478V|HIPK1_ENST00000369554.2_Silent_p.V807V|HIPK1_ENST00000369555.2_Silent_p.V807V|HIPK1_ENST00000426820.2_Silent_p.V852V|HIPK1_ENST00000369559.4_Silent_p.V852V|HIPK1_ENST00000406344.1_Silent_p.V458V|HIPK1_ENST00000369561.4_Silent_p.V818V Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 852 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CAGCTCCAGTCTCTTCCAAGT 0.428000 20 31 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55135721 55135721 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:55135721C>T ENST00000314706.3 + 1 362 c.362C>T c.(361-363)tCc>tTc p.S121F NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 AAGACCATTTCCTTTCAGGGT 0.388000 96 116 0 0 1 0 0 PNPLA7 375775 broad.mit.edu 37 9 140358908 140358908 + Splice_Site SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr9:140358908C>T ENST00000406427.1 - 27 3376 c.3039_splice c.e27-1 p.G1014_splice PNPLA7_ENST00000277531.4_Splice_Site_p.G989_splice|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Splice_Site_p.G595_splice NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 989 Patatin. lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) GACGTCATGCCCTGGGGCCAC 0.602000 100 14 0 0 1 0 0 SMG8 55181 broad.mit.edu 37 17 57290105 57290105 + Missense_Mutation SNP T T G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:57290105T>G ENST00000543872.2 + 4 2185 c.1921T>G c.(1921-1923)Tgt>Ggt p.C641G SMG8_ENST00000300917.5_Missense_Mutation_p.C641G|SMG8_ENST00000580498.1_3'UTR|CTD-2510F5.6_ENST00000577660.1_Intron Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 641 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 GGAAGAAAAGTGTTGTGGAAA 0.338000 82 147 0 0 1 0 0 ANGPT1 284 broad.mit.edu 37 8 108334292 108334292 + Missense_Mutation SNP C C T rs149379021 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:108334292C>T ENST00000520734.1 - 3 325 c.40G>A c.(40-42)Gaa>Aaa p.E14K ANGPT1_ENST00000520052.1_Missense_Mutation_p.E14K Q15389 ANGP1_HUMAN angiopoietin 1 214 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding p.E214K(1) NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) TCTTTCTCTTCCTTTAAGGTG 0.353000 47 48 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195517473 195517473 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:195517473C>T ENST00000463781.3 - 2 1437 c.978G>A c.(976-978)caG>caA p.Q326Q MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.Q326Q|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 331 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CGCTCTGAGTCTGGTGGTTCT 0.458000 62 95 0 0 1 0 0 DOK4 55715 broad.mit.edu 37 16 57509062 57509062 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:57509062C>T ENST00000566936.1 - 4 656 c.359G>A c.(358-360)aGt>aAt p.S120N DOK4_ENST00000561918.1_5'UTR|DOK4_ENST00000340099.4_Missense_Mutation_p.S120N|DOK4_ENST00000569548.1_Missense_Mutation_p.S120N Q8TEW6 DOK4_HUMAN docking protein 4 120 insulin receptor binding kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2) 6 TTCTCCCAGACTGATGTCGTT 0.602000 71 79 0 0 1 0 0 ANGPTL2 23452 broad.mit.edu 37 9 129870544 129870544 + Missense_Mutation SNP G G A rs145149714 by1000genomes TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr9:129870544G>A ENST00000373425.3 - 2 1084 c.467C>T c.(466-468)tCc>tTc p.S156F RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron NM_012098.2 NP_036230.1 Q9UKU9 ANGL2_HUMAN angiopoietin-like 2 156 multicellular organismal development|signal transduction extracellular space receptor binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1) 18 CTCCAGCTGGGAGAGCTCCAA 0.602000 51 9 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26273949 26273949 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr22:26273949G>A ENST00000335473.7 + 25 4498 c.4248G>A c.(4246-4248)cgG>cgA p.R1416R MYO18B_ENST00000407587.2_Silent_p.R1417R|MYO18B_ENST00000536101.1_Silent_p.R1416R NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1416 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CGCTAAGACGGAAGCTAGAAA 0.478000 3 9 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28972152 28972152 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr18:28972152C>T ENST00000359747.4 + 8 883 c.854C>T c.(853-855)tCg>tTg p.S285L DSG4_ENST00000308128.4_Missense_Mutation_p.S285L|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 285 Cadherin 3. Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.S285L(1) NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TGTTTAAGTTCGGAACTGATA 0.338000 43 64 0 0 1 0 0 CLIP2 7461 broad.mit.edu 37 7 73811453 73811453 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:73811453C>T ENST00000223398.6 + 14 3097 c.2770C>T c.(2770-2772)Cca>Tca p.P924S CLIP2_ENST00000395060.1_Missense_Mutation_p.P924S|CLIP2_ENST00000361545.5_Missense_Mutation_p.P889S NM_003388.4 NP_003379.3 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 924 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 TCGTCACTCCCCAGGGCCGGA 0.627000 32 52 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7070991 7070991 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:7070991G>A ENST00000299481.4 + 6 2559 c.2213G>A c.(2212-2214)gGg>gAg p.G738E NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 738 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GACCTAAAAGGGAGTGATATA 0.383000 99 93 0 0 1 0 0 DIAPH3 81624 broad.mit.edu 37 13 60545101 60545101 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr13:60545101G>A ENST00000400324.4 - 16 2064 c.1844C>T c.(1843-1845)cCc>cTc p.P615L DIAPH3_ENST00000400319.1_Missense_Mutation_p.P545L|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.P569L|DIAPH3_ENST00000377908.2_Missense_Mutation_p.P604L|DIAPH3_ENST00000400330.1_Missense_Mutation_p.P615L|DIAPH3_ENST00000267215.4_Missense_Mutation_p.P615L NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 615 FH1.|Pro-rich. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) GAATCCCAGGGGAGGTGGTGG 0.537000 9 67 0 0 1 0 0 AHCTF1 25909 broad.mit.edu 37 1 247051698 247051698 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:247051698G>A ENST00000366508.1 - 18 2507 c.2371C>T c.(2371-2373)Cat>Tat p.H791Y AHCTF1_ENST00000326225.3_Missense_Mutation_p.H765Y|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.H756Y Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 756 Necessary for cytoplasmic localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) AAACCTACATGCAGACTAGCA 0.453000 39 48 0 0 1 0 0 TNFSF13B 10673 broad.mit.edu 37 13 108922766 108922766 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr13:108922766G>A ENST00000375887.4 + 2 596 c.418G>A c.(418-420)Gaa>Aaa p.E140K TNFSF13B_ENST00000430559.1_Missense_Mutation_p.E140K|TNFSF13B_ENST00000479435.1_3'UTR|TNFSF13B_ENST00000542136.1_Missense_Mutation_p.E140K NM_006573.4 NP_006564.1 Q9Y275 TN13B_HUMAN tumor necrosis factor (ligand) superfamily, member 13b 140 cell proliferation|immune response|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity|tumor necrosis factor receptor binding large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104) all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19) GGGTCCAGAAGAAACAGGTAT 0.473000 41 65 0 0 1 0 0 RSG1 79363 broad.mit.edu 37 1 16558656 16558656 + Missense_Mutation SNP C C A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:16558656C>A ENST00000375599.3 - 5 1083 c.664G>T c.(664-666)Gct>Tct p.A222S NM_030907.3 NP_112169.2 Q9BU20 RSG1_HUMAN REM2 and RAB-like small GTPase 1 222 Small GTPase-like. cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction cilium|microtubule basal body GTP binding large_intestine(2)|lung(2)|pancreas(1)|prostate(1) 6 GCCAGCCCAGCCCGCCCGTCC 0.697000 37 44 2.40579e-17 2.43084e-17 1 1 0 RBM48 84060 broad.mit.edu 37 7 92158880 92158880 + Silent SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:92158880T>C ENST00000481551.1 + 2 243 c.202T>C c.(202-204)Tta>Cta p.L68L RBM48_ENST00000265732.5_Silent_p.L68L Q5RL73 CG064_HUMAN RNA binding motif protein 48 68 nucleotide binding GCGATTCGCTTTATATGGTGC 0.343000 33 45 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168102399 168102399 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:168102399C>T ENST00000409195.1 + 9 4586 c.4497C>T c.(4495-4497)ttC>ttT p.F1499F XIRP2_ENST00000295237.9_Silent_p.F1499F|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.F1277F NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1324 actin cytoskeleton organization cell junction actin binding p.F1499F(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ATCGAACTTTCGATTCTATTA 0.388000 37 112 0 0 1 0 0 WDR62 284403 broad.mit.edu 37 19 36590396 36590396 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:36590396C>T ENST00000401500.2 + 22 2651 c.2616C>T c.(2614-2616)ccC>ccT p.P872P WDR62_ENST00000270301.7_Silent_p.P872P NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 872 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GCCAAGAGCCCCTCAAGACCA 0.612000 69 87 0 0 1 0 0 PGK2 5232 broad.mit.edu 37 6 49754437 49754437 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:49754437G>A ENST00000304801.3 - 1 616 c.464C>T c.(463-465)tCc>tTc p.S155F NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 155 glycolysis cytosol ATP binding|phosphoglycerate kinase activity p.S155F(1) autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) CCCTAGCTTGGAAAGTGATGC 0.498000 23 82 0 0 1 0 0 FAM131B 9715 broad.mit.edu 37 7 143057241 143057241 + Splice_Site SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:143057241C>T ENST00000443739.2 - 2 178 c.28_splice c.e2-1 p.G10_splice FAM131B_ENST00000409408.1_5'UTR|FAM131B_ENST00000409222.3_5'UTR|FAM131B_ENST00000409578.1_Splice_Site_p.G10_splice|FAM131B_ENST00000409346.1_5'UTR NM_001031690.2|NM_001278297.1 NP_001026860.2|NP_001265226.1 Q86XD5 F131B_HUMAN family with sequence similarity 131, member B 0 breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) TCACCTCATTCCCTGAGGGGG 0.622000 11 14 0 0 1 0 0 FCRL6 343413 broad.mit.edu 37 1 159779228 159779228 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:159779228G>A ENST00000321935.6 + 6 748 c.662G>A c.(661-663)gGg>gAg p.G221E FCRL6_ENST00000392235.3_Missense_Mutation_p.G119E|FCRL6_ENST00000339348.5_Missense_Mutation_p.G214E|FCRL6_ENST00000368106.3_Missense_Mutation_p.G214E Q6DN72 FCRL6_HUMAN Fc receptor-like 6 214 Ig-like C2-type 3. integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 24 all_hematologic(112;0.0597) CTGCACCACGGGCCTGCTGAC 0.617000 36 43 0 0 1 0 0 SCGN 10590 broad.mit.edu 37 6 25652673 25652673 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:25652673C>T ENST00000377961.2 + 1 210 c.42C>T c.(40-42)gcC>gcT p.A14A SCGN_ENST00000334979.6_Silent_p.A14A NM_006998.3 NP_008929.2 O76038 SEGN_HUMAN secretagogin, EF-hand calcium binding protein 14 EF-hand 1. extracellular region|transport vesicle membrane calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 GCTTGGACGCCGCTGGCTTCT 0.612000 31 80 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26688565 26688565 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr22:26688565C>T ENST00000529632.2 + 2 484 c.288C>T c.(286-288)atC>atT p.I96I SEZ6L_ENST00000404234.3_Silent_p.I96I|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000360929.3_Silent_p.I96I|SEZ6L_ENST00000248933.6_Silent_p.I96I|SEZ6L_ENST00000343706.4_Silent_p.I96I|SEZ6L_ENST00000402979.1_5'UTR NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 96 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 ATCACGACATCCCAGCCCTGT 0.632000 16 15 0 0 1 0 0 ZNF205 7755 broad.mit.edu 37 16 3169792 3169792 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:3169792C>T ENST00000382192.3 + 7 1336 c.1131C>T c.(1129-1131)tcC>tcT p.S377S ZNF205_ENST00000219091.4_Silent_p.S377S|RP11-473M20.14_ENST00000576490.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA NM_001278158.1|NM_003456.2 NP_001265087.1|NP_003447.2 O95201 ZN205_HUMAN zinc finger protein 205 377 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 GCCACCACTCCACGCTGATTC 0.662000 91 78 0 0 1 0 0 CLDN4 1364 broad.mit.edu 37 7 73246094 73246094 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:73246094G>A ENST00000435050.1 + 2 3243 c.563G>A c.(562-564)cGc>cAc p.R188H CLDN4_ENST00000340958.2_Missense_Mutation_p.R188H|CLDN4_ENST00000431918.1_Missense_Mutation_p.R188H O14493 CLD4_HUMAN claudin 4 188 calcium-independent cell-cell adhesion integral to plasma membrane|tight junction identical protein binding|structural molecule activity|transmembrane receptor activity kidney(2)|lung(4)|urinary_tract(1) 7 Lung NSC(55;0.159) TGTCCACCCCGCACAGACAAG 0.642000 58 65 0 0 1 0 0 CLIP2 7461 broad.mit.edu 37 7 73811452 73811452 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:73811452C>T ENST00000223398.6 + 14 3096 c.2769C>T c.(2767-2769)tcC>tcT p.S923S CLIP2_ENST00000395060.1_Silent_p.S923S|CLIP2_ENST00000361545.5_Silent_p.S888S NM_003388.4 NP_003379.3 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 923 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 ATCGTCACTCCCCAGGGCCGG 0.632000 33 53 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179412599 179412599 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:179412599C>T ENST00000589042.1 - 339 93978 c.93754G>A c.(93754-93756)Gaa>Aaa p.E31252K TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E29611K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E22312K|TTN_ENST00000342992.6_Missense_Mutation_p.E28684K|TTN_ENST00000460472.2_Missense_Mutation_p.E22187K|TTN_ENST00000342175.6_Missense_Mutation_p.E22379K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29611 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCATTTCTTCCAGTTTCCAT 0.438000 50 33 0 0 1 0 0 ANPEP 290 broad.mit.edu 37 15 90328730 90328730 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr15:90328730C>T ENST00000300060.6 - 21 3067 c.2754G>A c.(2752-2754)ctG>ctA p.L918L NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 918 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 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)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) TGAACTGCTCCAGCTGCCAGA 0.557000 70 90 0 0 1 0 0 MOCS1 4337 broad.mit.edu 37 6 39895171 39895171 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:39895171G>A ENST00000373186.4 - 1 284 c.147C>T c.(145-147)ttC>ttT p.F49F MOCS1_ENST00000308559.7_Silent_p.F49F|MOCS1_ENST00000373195.3_Intron|MOCS1_ENST00000373188.2_Silent_p.F49F|MOCS1_ENST00000432280.2_Silent_p.F20F|MOCS1_ENST00000425303.2_Silent_p.F49F|MOCS1_ENST00000373175.4_Silent_p.F20F|MOCS1_ENST00000340692.5_Silent_p.F49F NM_005943.5 NP_005934.2 Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis 1 49 Molybdenum cofactor biosynthesis protein A. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 21 Ovarian(28;0.0355)|Colorectal(47;0.196) GCTCCCGCAGGAACTGCCTCC 0.657000 6 35 0 0 1 0 0 MN1 4330 broad.mit.edu 37 22 28194582 28194582 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr22:28194582C>T ENST00000302326.4 - 1 2904 c.1950G>A c.(1948-1950)tcG>tcA p.S650S NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 650 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 CGGGCAGACCCGAGCCGCCCA 0.736000 T ETV6 """AML, meningioma""" 4 4 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25886754 25886754 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:25886754G>A ENST00000376351.3 + 11 2558 c.2199G>A c.(2197-2199)atG>atA p.M733I GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 733 integral to membrane|plasma membrane G-protein coupled receptor activity p.M733I(1) breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GAAAGAAGATGATCACAAACA 0.448000 96 27 0 0 1 0 0 KRTAP3-2 83897 broad.mit.edu 37 17 39155982 39155982 + Silent SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:39155982A>G ENST00000391587.1 - 1 156 c.124T>C c.(124-126)Tta>Cta p.L42L NM_031959.2 NP_114165.1 Q9BYR7 KRA32_HUMAN keratin associated protein 3-2 42 3 X 5 AA repeats of C-C-X(3). keratin filament structural molecule activity endometrium(1)|large_intestine(1)|lung(1) 3 Breast(137;0.00043) GGCTCCAGTAACCAAACTGTG 0.627000 36 58 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70505181 70505181 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:70505181G>A ENST00000310961.5 + 22 3993 c.3575G>A c.(3574-3576)gGa>gAa p.G1192E LRRC7_ENST00000035383.5_Missense_Mutation_p.G1187E|LRRC7_ENST00000415775.2_Missense_Mutation_p.G471E Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1187 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 GCTCAGGCGGGAAGTTTTCCG 0.493000 28 35 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55152070 55152070 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:55152070C>T ENST00000257290.5 + 18 2833 c.2502C>T c.(2500-2502)atC>atT p.I834I FIP1L1_ENST00000507166.1_Silent_p.I594I NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 834 Protein kinase. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TTGTGAAGATCTGTGACTTTG 0.507000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 85 91 0 0 1 0 0 MT-ND1 4535 broad.mit.edu 37 MT 4061 4061 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrM:4061C>T ENST00000361390.2 + 1 755 c.755C>T c.(754-756)cCt>cTt p.252_252insL mitochondrially encoded NADH dehydrogenase 1 breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1) 34 CGCACTCTCCCCTGAACTCTA 0.438000 11 139 0 0 1 0 0 ODF2L 57489 broad.mit.edu 37 1 86847984 86847984 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:86847984G>A ENST00000359242.3 - 7 846 c.565C>T c.(565-567)Cta>Tta p.L189L ODF2L_ENST00000370567.1_Silent_p.L189L|ODF2L_ENST00000294678.2_Silent_p.L189L|ODF2L_ENST00000317336.7_Silent_p.L189L|ODF2L_ENST00000394731.1_Silent_p.L58L|ODF2L_ENST00000370566.3_Silent_p.L189L NM_001007022.2 NP_001007023.2 Q9ULJ1 ODF2L_HUMAN outer dense fiber of sperm tails 2-like 189 centrosome endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 24 all cancers(265;0.0313)|Epithelial(280;0.0611) TGGATCTGTAGTCGTTCATGT 0.294000 17 78 0 0 1 0 0 SCAF1 58506 broad.mit.edu 37 19 50161585 50161585 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:50161585C>T ENST00000360565.3 + 11 3992 c.3868C>T c.(3868-3870)Ccc>Tcc p.P1290S NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 1290 Necessary for interaction with the CTD domain of POLR2A.|Pro-rich. mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) CCCCCCAGGGCCCCCACGGCC 0.706000 6 10 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30702494 30702494 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:30702494C>T ENST00000256246.2 - 1 4114 c.4040G>A c.(4039-4041)gGa>gAa p.G1347E NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1347 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TGAAGATTCTCCCTCACTATC 0.408000 63 13 0 0 1 0 0 PRSS16 10279 broad.mit.edu 37 6 27216676 27216676 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:27216676C>T ENST00000230582.3 + 3 303 c.288C>T c.(286-288)ttC>ttT p.F96F PRSS16_ENST00000421826.2_Intron NM_005865.3 NP_005856.1 Q9NQE7 TSSP_HUMAN protease, serine, 16 (thymus) 96 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 GACCCATATTCCTGCATCTAG 0.557000 11 58 0 0 1 0 0 RBM12B 389677 broad.mit.edu 37 8 94747176 94747176 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:94747176G>A ENST00000399300.2 - 3 1676 c.1463C>T c.(1462-1464)tCt>tTt p.S488F RBM12B_ENST00000517700.1_Missense_Mutation_p.S488F|RBM12B_ENST00000520961.1_Intron NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 488 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) GGACATCACAGAAAAATTTAC 0.408000 140 151 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89720671 89720671 + Nonsense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:89720671G>A ENST00000371953.3 + 8 2179 c.822G>A c.(820-822)tgG>tgA p.W274* PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 274 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.W274*(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.W274_F341del(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TTCACTTTTGGGTAAATACAT 0.269000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 28 6 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17428444 17428444 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:17428444G>A ENST00000302539.4 - 25 3281 c.3156C>T c.(3154-3156)tcC>tcT p.S1052S ABCC8_ENST00000389817.3_Silent_p.S1051S NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1051 ABC transmembrane type-1 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CCTGGCTGAGGGAGCAGTTCC 0.642000 44 63 0 0 1 0 0 CD300LF 146722 broad.mit.edu 37 17 72691365 72691365 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:72691365G>A ENST00000326165.6 - 7 854 c.743C>T c.(742-744)tCc>tTc p.S248F CD300LF_ENST00000301573.9_3'UTR|CD300LF_ENST00000464910.1_Missense_Mutation_p.S251F|CD300LF_ENST00000469092.1_3'UTR|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000361254.4_3'UTR|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000583937.1_Missense_Mutation_p.S263F|CD300LF_ENST00000343125.4_3'UTR NM_139018.3 NP_620587.2 Q8TDQ1 CLM1_HUMAN CD300 molecule-like family member f 248 integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 AGATGCATAGGAAATGTCCTC 0.637000 30 53 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95511668 95511668 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:95511668C>T ENST00000297591.5 - 17 4239 c.4164G>A c.(4162-4164)aaG>aaA p.K1388K KIAA1429_ENST00000437199.1_Intron NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1388 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) CTCCTGTGTCCTTACTAAATG 0.318000 16 34 0 0 1 0 0 CYP4F8 11283 broad.mit.edu 37 19 15740003 15740003 + RNA SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:15740003G>A ENST00000441682.2 + 0 1459 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 TGGCCCCCAGGAACTGCATCG 0.667000 8 18 0 0 1 0 0 CYP3A5 1577 broad.mit.edu 37 7 99270229 99270229 + Missense_Mutation SNP A A T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:99270229A>T ENST00000343703.5 - 5 648 c.262T>A c.(262-264)Tgt>Agt p.C88S CYP3A5_ENST00000480723.1_5'UTR|CYP3A5_ENST00000439761.1_Missense_Mutation_p.C98S|CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000222982.4_Missense_Mutation_p.C98S cytochrome P450, family 3, subfamily A, polypeptide 5 NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) ACAGAATAACATTCTTTCACT 0.368000 81 97 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42227360 42227360 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:42227360G>A ENST00000541110.1 - 9 2614 c.2046C>T c.(2044-2046)ttC>ttT p.F682F TRERF1_ENST00000372917.4_Silent_p.F579F|TRERF1_ENST00000354325.2_Silent_p.F579F|TRERF1_ENST00000372922.4_Silent_p.F662F|TRERF1_ENST00000340840.2_Silent_p.F579F Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 662 Interacts with CREBBP.|Pro-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GCGGCGGGATGAAGAGAGGTT 0.667000 29 95 0 0 1 0 0 SRPK1 6732 broad.mit.edu 37 6 35840461 35840461 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:35840461G>A ENST00000373825.2 - 8 915 c.630C>T c.(628-630)atC>atT p.I210I SRPK1_ENST00000423325.2_Silent_p.I194I|SRPK1_ENST00000373822.1_Silent_p.I103I Q96SB4 SRPK1_HUMAN SRSF protein kinase 1 210 Protein kinase. I -> T (in Ref. 4; AAH38292). cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing cytoplasm|nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 TGTCAGTGTGGATGATACGGC 0.443000 10 16 0 0 1 0 0 CYLC1 1538 broad.mit.edu 37 X 83129150 83129150 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:83129150G>A ENST00000329312.4 + 4 1471 c.1434G>A c.(1432-1434)aaG>aaA p.K478K NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 478 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 AGGATGCAAAGAAAAATGCAG 0.353000 21 1 0 0 1 0 0 LPAR4 2846 broad.mit.edu 37 X 78011008 78011008 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:78011008C>T ENST00000435339.2 + 2 1047 c.642C>T c.(640-642)atC>atT p.I214I LPAR4_ENST00000373301.2_Silent_p.I214I NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 214 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 TTGGGTTTATCATTCCTCTAA 0.398000 28 4 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131848648 131848648 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:131848648G>A ENST00000286355.5 - 12 4642 c.2550C>T c.(2548-2550)ttC>ttT p.F850F ADCY8_ENST00000377928.3_Silent_p.F719F NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 850 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TCAGCCGGAGGAAAACTGCAC 0.547000 HNSCC(32;0.087) 64 65 0 0 1 0 0 FERMT2 10979 broad.mit.edu 37 14 53348116 53348116 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:53348116G>A ENST00000395631.2 - 5 814 c.598C>T c.(598-600)Ccc>Tcc p.P200S FERMT2_ENST00000341590.3_Missense_Mutation_p.P200S|FERMT2_ENST00000343279.4_Missense_Mutation_p.P200S|FERMT2_ENST00000553373.1_Missense_Mutation_p.P200S|FERMT2_ENST00000399304.3_Missense_Mutation_p.P200S Q96AC1 FERM2_HUMAN fermitin family member 2 200 FERM. actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytosol|focal adhesion|stress fiber binding p.P200S(1) ERO1L/FERMT2(2) NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Breast(41;0.0342) GGTGACAAGGGGCTTCCATCA 0.418000 68 58 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107041010 107041010 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:107041010G>A ENST00000409886.3 - 20 3500 c.3413C>T c.(3412-3414)tCt>tTt p.S1138F RGPD3_ENST00000304514.7_Missense_Mutation_p.S1138F NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1138 RanBD1 1. intracellular transport binding p.S1138Y(2) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 ATCACCATCAGAGAAATCACT 0.448000 113 85 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131190990 131190990 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:131190990C>T ENST00000337057.3 - 15 2501 c.2320G>A c.(2320-2322)Gaa>Aaa p.E774K EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.E152K|EPB41L2_ENST00000529208.1_Missense_Mutation_p.E704K|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000527659.1_Missense_Mutation_p.E704K|EPB41L2_ENST00000368128.2_Missense_Mutation_p.E774K|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000527411.1_Missense_Mutation_p.E704K|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000530481.1_Missense_Mutation_p.E704K|EPB41L2_ENST00000445890.2_Intron NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 774 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) ACCTCTTCTTCATACTCCTGT 0.612000 81 86 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43702403 43702403 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:43702403G>A ENST00000405312.3 - 3 692 c.455C>T c.(454-456)tCc>tTc p.S152F PSG4_ENST00000433626.2_Intron|PSG4_ENST00000244295.9_Missense_Mutation_p.S152F NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 152 Ig-like C2-type 1. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) GTTGCTGCTGGAGATGGAGGG 0.512000 111 148 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28713941 28713941 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr18:28713941C>T ENST00000257197.3 - 13 2290 c.2029G>A c.(2029-2031)Gat>Aat p.D677N DSC1_ENST00000257198.5_Missense_Mutation_p.D677N|RP11-408H20.2_ENST00000581836.1_RNA NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 677 Cadherin 5. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) GTACTTTTATCCTTCATTCTA 0.353000 50 90 0 0 1 0 0 STAM 8027 broad.mit.edu 37 10 17750894 17750894 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:17750894C>T ENST00000377524.3 + 13 1544 c.1329C>T c.(1327-1329)gtC>gtT p.V443V STAM_ENST00000540523.1_Silent_p.V332V NM_003473.3 NP_003464.1 Q92783 STAM1_HUMAN signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 443 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane SH3/SH2 adaptor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 26 AGGCAGTGGTCCCACCATCCG 0.547000 64 10 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162459366 162459366 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:162459366C>T ENST00000306100.5 - 10 1700 c.1264G>A c.(1264-1266)Gat>Aat p.D422N FSTL5_ENST00000427802.2_Missense_Mutation_p.D421N|FSTL5_ENST00000379164.4_Missense_Mutation_p.D421N|FSTL5_ENST00000536695.1_Missense_Mutation_p.D421N NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 422 Ig-like 2. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) ATGTCTTCATCCACTCCTGCT 0.423000 79 115 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117730798 117730798 + Missense_Mutation SNP G G A rs150941257 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:117730798G>A ENST00000368508.3 - 4 434 c.236C>T c.(235-237)tCg>tTg p.S79L ROS1_ENST00000368507.3_Missense_Mutation_p.S88L|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 79 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AACCTCACACGACTCCCGCTG 0.468000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 13 22 0 0 1 0 0 CAPN11 11131 broad.mit.edu 37 6 44137169 44137169 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:44137169C>T ENST00000542245.1 + 3 278 c.240C>T c.(238-240)ttC>ttT p.F80F CAPN11_ENST00000398776.1_Silent_p.F80F Q9UMQ6 CAN11_HUMAN calpain 11 80 Calpain catalytic. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 36 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GGGAGCTCTTCGAGGACCCCT 0.587000 7 14 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179615146 179615146 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:179615146G>A ENST00000360870.5 - 46 12203 c.11981C>T c.(11980-11982)tCg>tTg p.S3994L TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9810 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTTTTCCAACGAATGAATGAT 0.323000 28 83 0 0 1 0 0 FERMT1 55612 broad.mit.edu 37 20 6078218 6078218 + Missense_Mutation SNP C C T rs146180696 byFrequency TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr20:6078218C>T ENST00000217289.4 - 7 1698 c.910G>A c.(910-912)Gaa>Aaa p.E304K FERMT1_ENST00000536936.1_Missense_Mutation_p.E47K NM_017671.4 NP_060141.3 Q9BQL6 FERM1_HUMAN fermitin family member 1 304 FERM. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 CAATCAATTTCTTCTAAGAGA 0.413000 48 70 0 0 1 0 0 FCRL1 115350 broad.mit.edu 37 1 157772254 157772254 + Missense_Mutation SNP T T A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:157772254T>A ENST00000358292.3 - 4 571 c.520A>T c.(520-522)Agg>Tgg p.R174W FCRL1_ENST00000491942.1_Missense_Mutation_p.R174W|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Missense_Mutation_p.R174W NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 174 Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TCACTCTCCCTCACTGAAGGA 0.483000 46 57 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181700323 181700323 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:181700323G>A ENST00000357570.5 + 19 2418 c.2106G>A c.(2104-2106)agG>agA p.R702R CACNA1E_ENST00000367570.1_Silent_p.R751R|CACNA1E_ENST00000367567.4_Silent_p.R358R|CACNA1E_ENST00000360108.3_Intron|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000367573.2_Silent_p.R751R Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 751 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GAGACAGAAGGAGAAGACACC 0.537000 20 31 0 0 1 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85546801 85546801 + Splice_Site SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:85546801G>A ENST00000393217.2 + 21 4480 c.e21-1 NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) TTTGTGAAAAGATTCCTGGAA 0.294000 32 21 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23706574 23706574 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:23706574C>T ENST00000256797.4 - 15 2059 c.1891G>A c.(1891-1893)Gga>Aga p.G631R ERN2_ENST00000457008.2_Missense_Mutation_p.G531R NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 583 Protein kinase. apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) AACTGGGGTCCCCGCTCGGTG 0.637000 39 25 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262624 45262624 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:45262624G>A ENST00000303230.4 - 8 2129 c.2072C>T c.(2071-2073)tCa>tTa p.S691L NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 691 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 CAGGATGGCTGATGGCTGGGG 0.637000 23 20 0 0 1 0 0 POMP 51371 broad.mit.edu 37 13 29246530 29246530 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr13:29246530G>A ENST00000380842.4 + 5 400 c.319G>A c.(319-321)Ggt>Agt p.G107S POMP_ENST00000460403.1_3'UTR NM_015932.5 NP_057016.1 Q9Y244 POMP_HUMAN proteasome maturation protein 107 proteasome assembly cytosol|endoplasmic reticulum|membrane|microsome|nucleus|proteasome complex endometrium(2)|kidney(1)|large_intestine(1) 4 Lung SC(185;0.0367) all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216) TGTTTTGAGGGGTAATGATGA 0.388000 16 117 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141802458 141802458 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:141802458G>A ENST00000475668.2 + 69 8046 c.7992G>A c.(7990-7992)ttG>ttA p.L2664L MGAM_ENST00000549489.2_Silent_p.L1768L O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1768 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TCTATTACTTGGCCAGCTTTT 0.413000 17 19 0 0 1 0 0 CYP11B2 1585 broad.mit.edu 37 8 143996128 143996128 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:143996128G>A ENST00000323110.2 - 4 794 c.792C>T c.(790-792)ttC>ttT p.F264F NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 264 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) CACCGTACTGGAAGATGCAGT 0.607000 Familial Hyperaldosteronism type I 17 17 0 0 1 0 0 TNPO1 3842 broad.mit.edu 37 5 72201150 72201150 + Missense_Mutation SNP T T A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:72201150T>A ENST00000337273.5 + 24 3036 c.2610T>A c.(2608-2610)aaT>aaA p.N870K TNPO1_ENST00000454282.1_Missense_Mutation_p.N820K|TNPO1_ENST00000506351.2_Missense_Mutation_p.N862K|TNPO1_ENST00000523768.1_Missense_Mutation_p.N820K NM_002270.3 NP_002261.3 Q92973 TNPO1_HUMAN transportin 1 870 interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation cytosol|nucleus nuclear localization sequence binding|protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 Lung NSC(167;0.0053)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;6.14e-54) GATTTAAAAATCAAGTTGGCG 0.353000 37 79 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21826269 21826269 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:21826269C>T ENST00000328843.6 + 60 9677 c.9646C>T c.(9646-9648)Ccc>Tcc p.P3216S DNAH11_ENST00000409508.3_Missense_Mutation_p.P3209S Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3216 Stalk (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GAAAGCCTTTCCCAACCCTCC 0.512000 Kartagener syndrome 51 69 0 0 1 0 0 SPNS3 201305 broad.mit.edu 37 17 4352618 4352618 + Missense_Mutation SNP G G A rs151081415 byFrequency TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:4352618G>A ENST00000355530.2 + 7 1139 c.859G>A c.(859-861)Gag>Aag p.E287K SPNS3_ENST00000333476.2_Missense_Mutation_p.E160K|SPNS3_ENST00000576069.1_Intron NM_182538.4 NP_872344.3 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 (Drosophila) 287 lipid transport|transmembrane transport integral to membrane NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2) 28 GTTTCTGCTCGAGGCACGCGT 0.677000 59 63 0 0 1 0 0 SLC36A2 153201 broad.mit.edu 37 5 150696403 150696403 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:150696403G>A ENST00000335244.4 - 10 1556 c.1427C>T c.(1426-1428)tCc>tTc p.S476F SLC36A2_ENST00000450886.1_Missense_Mutation_p.S200F NM_181776.2 NP_861441.2 Q495M3 S36A2_HUMAN solute carrier family 36 (proton/amino acid symporter), member 2 476 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGTGGAGTTGGAAAAGGGGTG 0.493000 38 25 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138442227 138442227 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:138442227C>T ENST00000344876.4 - 4 3750 c.3364G>A c.(3364-3366)Gtg>Atg p.V1122M PCDH18_ENST00000511115.1_Missense_Mutation_p.V302M|PCDH18_ENST00000412923.2_Missense_Mutation_p.V1121M|PCDH18_ENST00000510305.1_Missense_Mutation_p.V333M|PCDH18_ENST00000507846.1_Missense_Mutation_p.V901M NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 1122 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) ATCTCTGCCACCAGTTCACTG 0.423000 24 28 0 0 1 0 0 TTLL10 254173 broad.mit.edu 37 1 1115515 1115515 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:1115515C>T ENST00000379290.1 + 6 474 c.301C>T c.(301-303)Ctg>Ttg p.L101L TTLL10_ENST00000379288.3_Silent_p.L28L|TTLL10_ENST00000379289.1_Silent_p.L101L Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 101 protein modification process ATP binding|tubulin-tyrosine ligase activity haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TGGGCCGGACCTGGAGGGGGC 0.692000 9 18 0 0 1 0 0 SERPINA13P 388007 broad.mit.edu 37 14 95107114 95107114 + RNA SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:95107114C>T ENST00000469935.1 + 0 53 NR_015340.1 tgagtgtgctccgtgcatgat 0.592000 7 3 0 0 1 0 0 GLYATL1 92292 broad.mit.edu 37 11 58723113 58723113 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:58723113G>A ENST00000300079.5 + 7 665 c.615G>A c.(613-615)ctG>ctA p.L205L RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Silent_p.L174L NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 174 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) ATGCCCAGCTGGATGTCTCTT 0.458000 37 66 0 0 1 0 0 C16orf46 123775 broad.mit.edu 37 16 81095088 81095088 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:81095088G>A ENST00000378611.4 - 3 981 c.866C>T c.(865-867)tCc>tTc p.S289F RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000299578.5_Missense_Mutation_p.S289F NM_001100873.1 NP_001094343.1 Q6P387 CP046_HUMAN chromosome 16 open reading frame 46 289 NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1) 18 GGTCAGCAGGGATATCTGGGC 0.582000 78 74 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179427731 179427731 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:179427731C>T ENST00000589042.1 - 326 83352 c.83128G>A c.(83128-83130)Gaa>Aaa p.E27710K TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E26069K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18770K|TTN_ENST00000342992.6_Missense_Mutation_p.E25142K|TTN_ENST00000460472.2_Missense_Mutation_p.E18645K|TTN_ENST00000342175.6_Missense_Mutation_p.E18837K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26069 Fibronectin type-III 102. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTGCCTTTTCCCATTTAACT 0.453000 125 78 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67800231 67800231 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr13:67800231G>A ENST00000544246.1 - 2 3033 c.2342C>T c.(2341-2343)gCc>gTc p.A781V PCDH9_ENST00000377865.2_Missense_Mutation_p.A781V|PCDH9_ENST00000456367.1_Missense_Mutation_p.A781V|PCDH9_ENST00000377861.3_Missense_Mutation_p.A781V|PCDH9_ENST00000328454.5_Missense_Mutation_p.A781V NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 781 Cadherin 7. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GATATAGGAGGCATTTCCAGC 0.463000 124 77 0 0 1 0 0 SLC9A3 6550 broad.mit.edu 37 5 482707 482707 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:482707C>T ENST00000264938.3 - 7 1321 c.1312G>A c.(1312-1314)Gtc>Atc p.V438I SLC9A3_ENST00000514375.1_Missense_Mutation_p.V438I NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 438 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) GTGGTGCTGACGAACAGGTTC 0.652000 22 31 0 0 1 0 0 BRAP 8315 broad.mit.edu 37 12 112119504 112119504 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:112119504G>A ENST00000419234.4 - 3 573 c.380C>T c.(379-381)tCa>tTa p.S127L BRAP_ENST00000327551.6_Missense_Mutation_p.S97L|BRAP_ENST00000539060.1_5'UTR NM_006768.3 NP_006759.3 Q7Z569 BRAP_HUMAN BRCA1 associated protein 127 MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 20 ACTGAAGAATGAAATCTGGTC 0.418000 46 28 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137653805 137653805 + Missense_Mutation SNP C C T rs149912828 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr9:137653805C>T ENST00000371817.3 + 19 2384 c.1970C>T c.(1969-1971)cCg>cTg p.P657L NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 657 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCAGGACCTCCGGGAGACGAT 0.597000 55 12 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12642635 12642635 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:12642635C>T ENST00000425538.1 + 7 907 c.707C>T c.(706-708)gCt>gTt p.A236V MYOCD_ENST00000395988.1_Missense_Mutation_p.A140V|MYOCD_ENST00000343344.4_Missense_Mutation_p.A236V NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 236 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GCCGTGCATGCTGCTGTAAAG 0.582000 43 39 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33154460 33154460 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:33154460G>A ENST00000341947.2 - 5 969 c.742C>T c.(742-744)Cca>Tca p.P248S COL11A2_ENST00000357486.1_Missense_Mutation_p.P248S|COL11A2_ENST00000361917.1_Missense_Mutation_p.P248S|COL11A2_ENST00000395194.1_Missense_Mutation_p.P248S|COL11A2_ENST00000374714.1_Missense_Mutation_p.P248S|COL11A2_ENST00000374713.1_Missense_Mutation_p.P248S|COL11A2_ENST00000374712.1_Missense_Mutation_p.P248S|COL11A2_ENST00000374708.4_Missense_Mutation_p.P248S|COL11A2_ENST00000395197.1_Missense_Mutation_p.P248S NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 248 Nonhelical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 TGCTGCTGTGGAGATCTCTGG 0.572000 67 81 0 0 1 0 0 SNX31 169166 broad.mit.edu 37 8 101624273 101624273 + Missense_Mutation SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:101624273A>G ENST00000311812.2 - 7 716 c.566T>C c.(565-567)cTt>cCt p.L189P SNX31_ENST00000428383.2_Missense_Mutation_p.L90P NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 189 cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) AGAACTTCCAAGACTAACATA 0.433000 54 39 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13768457 13768457 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:13768457G>A ENST00000279593.3 - 6 1679 c.1470C>T c.(1468-1470)atC>atT p.I490I NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 490 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AGGTTCCATTGATTTTCTTCC 0.373000 93 50 0 0 1 0 0 SOS2 6655 broad.mit.edu 37 14 50619804 50619804 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:50619804G>A ENST00000216373.5 - 13 2419 c.2145C>T c.(2143-2145)ttC>ttT p.F715F SOS2_ENST00000543680.1_Silent_p.F682F NM_006939.2 NP_008870.2 Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) 715 N-terminal Ras-GEF. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) CACTTGAAATGAAGGATTCTA 0.289000 49 49 0 0 1 0 0 COPA 1314 broad.mit.edu 37 1 160261901 160261901 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:160261901G>A ENST00000241704.7 - 29 3277 c.3048C>T c.(3046-3048)ctC>ctT p.L1016L COPA_ENST00000368069.3_Silent_p.L1025L NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 1016 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CAACTGTGGTGAGCTGGTAGC 0.493000 OREG0013929 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 124 174 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166237144 166237144 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:166237144C>T ENST00000375437.2 + 24 4641 c.4351C>T c.(4351-4353)Ctt>Ttt p.L1451F SCN2A_ENST00000283256.6_Missense_Mutation_p.L1451F|SCN2A_ENST00000375427.2_Missense_Mutation_p.L1451F|SCN2A_ENST00000357398.3_Missense_Mutation_p.L1451F NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1451 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GTACATGTATCTTTATTTTGT 0.289000 31 49 0 0 1 0 0 ATP11A 23250 broad.mit.edu 37 13 113479873 113479873 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr13:113479873G>A ENST00000487903.1 + 11 1090 c.1002G>A c.(1000-1002)gaG>gaA p.E334E ATP11A_ENST00000375630.2_Silent_p.E334E|ATP11A_ENST00000375645.3_Silent_p.E334E|ATP11A_ENST00000283558.8_Silent_p.E334E P98196 AT11A_HUMAN ATPase, class VI, type 11A 334 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 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_lung(25;0.134)|all_epithelial(44;0.141) AGAAAACGGAGTCGGAAAGGC 0.468000 10 64 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136567284 136567284 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:136567284G>A ENST00000264162.2 - 8 2643 c.2633C>T c.(2632-2634)tCc>tTc p.S878F NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 878 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) TTTAGCCTTGGAGGGCACCTC 0.502000 82 98 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371668 240371668 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:240371668C>T ENST00000319653.9 + 5 3786 c.3556C>T c.(3556-3558)Cct>Tct p.P1186S NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1186 FH1.|Pro-rich. 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 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) GGGAATACCTCCTCCGCCCCC 0.682000 13 18 0 0 1 0 0 ZFP91 80829 broad.mit.edu 37 11 58384275 58384275 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:58384275G>A ENST00000316059.6 + 10 1360 c.1189G>A c.(1189-1191)Gag>Aag p.E397K ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.E397K NM_001197051.1|NM_053023.4 NP_001183980.1|NP_444251.1 Q96JP5 ZFP91_HUMAN ZFP91 zinc finger protein 397 activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) TCACACTGGCGAGAAGCCATT 0.423000 26 36 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175897029 175897029 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:175897029C>T ENST00000359240.3 + 5 1023 c.353C>T c.(352-354)aCc>aTc p.T118I ADAM29_ENST00000404450.4_Missense_Mutation_p.T118I|ADAM29_ENST00000445694.1_Missense_Mutation_p.T118I|ADAM29_ENST00000514159.1_Missense_Mutation_p.T118I NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 118 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TCCCTCAGTACCTGTTTTGGG 0.438000 29 53 0 0 1 0 0 WNT9A 7483 broad.mit.edu 37 1 228111913 228111913 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:228111913C>T ENST00000272164.5 - 3 551 c.541G>A c.(541-543)Gaa>Aaa p.E181K WNT9A_ENST00000497852.1_Intron NM_003395.2 NP_003386.1 O14904 WNT9A_HUMAN wingless-type MMTV integration site family, member 9A 181 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Prostate(94;0.0405) CCCAGGAATTCCTTGACGAAC 0.622000 76 109 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218712673 218712673 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:218712673G>A ENST00000171887.4 - 17 2644 c.2192C>T c.(2191-2193)tCc>tTc p.S731F TNS1_ENST00000430930.1_Missense_Mutation_p.S731F|TNS1_ENST00000419504.1_Missense_Mutation_p.S731F NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 731 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) GACACTCTGGGACTTGTGTAG 0.617000 50 36 0 0 1 0 0 TGM3 7053 broad.mit.edu 37 20 2290832 2290832 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr20:2290832C>T ENST00000381458.5 + 3 253 c.190C>T c.(190-192)Ccc>Tcc p.P64S NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 64 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) AGGGCCTTACCCCTCAGAGTC 0.547000 57 102 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100678057 100678057 + Silent SNP C C A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:100678057C>A ENST00000306151.4 + 3 3424 c.3360C>A c.(3358-3360)acC>acA p.T1120T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1120 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AGGCTAGCACCCTTTCCACAA 0.517000 114 925 4.34595e-34 4.41416e-34 1 1 0 CUZD1 50624 broad.mit.edu 37 10 124600703 124600703 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr10:124600703G>A ENST00000368904.1 - 4 1173 c.224C>T c.(223-225)tCc>tTc p.S75F CUZD1_ENST00000545804.1_Missense_Mutation_p.S75F|CUZD1_ENST00000392790.1_Missense_Mutation_p.S75F Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 75 CUB 1. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) CTGGACATAGGAAAAGATAAT 0.438000 26 8 0 0 1 0 0 GOLGA8EP 390535 broad.mit.edu 37 15 23444038 23444038 + RNA SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr15:23444038G>A ENST00000526079.1 + 0 1682 NR_027407.1|NR_033350.1 ACAGTGAGGGGGAGGAGGCAC 0.612000 12 48 0 0 1 0 0 MYBPC1 4604 broad.mit.edu 37 12 102056169 102056169 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:102056169C>T ENST00000549145.1 + 20 2130 c.2030C>T c.(2029-2031)tCc>tTc p.S677F MYBPC1_ENST00000360610.2_Missense_Mutation_p.S664F|MYBPC1_ENST00000545503.2_Missense_Mutation_p.S664F|MYBPC1_ENST00000553190.1_Missense_Mutation_p.S664F|MYBPC1_ENST00000551300.1_Missense_Mutation_p.S565F|MYBPC1_ENST00000361685.2_Missense_Mutation_p.S689F|MYBPC1_ENST00000361466.2_Missense_Mutation_p.S689F|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.S664F|MYBPC1_ENST00000547509.1_Missense_Mutation_p.S650F|MYBPC1_ENST00000547405.1_Missense_Mutation_p.S638F|MYBPC1_ENST00000541119.1_Missense_Mutation_p.S652F|MYBPC1_ENST00000536007.1_Missense_Mutation_p.S645F|MYBPC1_ENST00000452455.2_Missense_Mutation_p.S664F|MYBPC1_ENST00000441232.1_Missense_Mutation_p.S664F|MYBPC1_ENST00000392934.3_Missense_Mutation_p.S651F Q00872 MYPC1_HUMAN myosin binding protein C, slow type 664 Fibronectin type-III 1. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 AAACAAAGCTCCAGGTGGATG 0.393000 7 34 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34094868 34094868 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:34094868C>T ENST00000297161.2 + 10 1254 c.880C>T c.(880-882)Ccc>Tcc p.P294S BMPER_ENST00000426693.1_Missense_Mutation_p.P294S NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 294 blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 CCTACGAGTGCCCCCAGAAGA 0.507000 76 91 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2783710 2783710 + Missense_Mutation SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:2783710A>G ENST00000399655.1 + 39 4995 c.4730A>G c.(4729-4731)aAc>aGc p.N1577S CACNA1C_ENST00000399637.1_Missense_Mutation_p.N1596S|CACNA1C_ENST00000399597.1_Missense_Mutation_p.N1577S|CACNA1C_ENST00000399629.1_Missense_Mutation_p.N1594S|CACNA1C_ENST00000399621.1_Missense_Mutation_p.N1596S|CACNA1C_ENST00000399641.1_Missense_Mutation_p.N1577S|CACNA1C_ENST00000399638.1_Missense_Mutation_p.N1605S|CACNA1C_ENST00000399634.1_Missense_Mutation_p.N1577S|CACNA1C_ENST00000406454.3_Missense_Mutation_p.N1577S|CACNA1C_ENST00000399644.1_Missense_Mutation_p.N1577S|CACNA1C_ENST00000399595.1_Missense_Mutation_p.N1585S|CACNA1C_ENST00000399649.1_Missense_Mutation_p.N1583S|CACNA1C_ENST00000327702.7_Missense_Mutation_p.N1577S|CACNA1C_ENST00000399601.1_Missense_Mutation_p.N1577S|CACNA1C_ENST00000344100.3_Missense_Mutation_p.N1618S|CACNA1C_ENST00000399603.1_Missense_Mutation_p.N1577S|CACNA1C_ENST00000402845.3_Missense_Mutation_p.N1596S|CACNA1C_ENST00000347598.4_Missense_Mutation_p.N1625S|CACNA1C_ENST00000399591.1_Missense_Mutation_p.N1585S|CACNA1C_ENST00000335762.5_Missense_Mutation_p.N1602S|CACNA1C_ENST00000399617.1_Missense_Mutation_p.N1577S|CACNA1C_ENST00000399606.1_Missense_Mutation_p.N1597S NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1625 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CCTGCAGGGAACCTAGAACAA 0.612000 3 5 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104449092 104449092 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr9:104449092C>T ENST00000361820.3 - 2 1690 c.1090G>A c.(1090-1092)Gaa>Aaa p.E364K NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 364 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GTCCTCAGTTCCTCCACATTC 0.512000 24 8 0 0 1 0 0 IL36B 27177 broad.mit.edu 37 2 113786574 113786574 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:113786574C>T ENST00000259213.4 - 4 310 c.203G>A c.(202-204)gGa>gAa p.G68E IL36B_ENST00000327407.2_Missense_Mutation_p.G68E NM_014438.3 NP_055253.2 Q9NZH7 IL36B_HUMAN interleukin 36, beta 68 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 GAGATCTTTTCCCTTGATTCC 0.418000 30 43 0 0 1 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213414585 213414585 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:213414585C>T ENST00000366960.3 + 11 1916 c.1766C>T c.(1765-1767)tCc>tTc p.S589F RPS6KC1_ENST00000543354.1_Missense_Mutation_p.S292F|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S577F|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.S377F|RPS6KC1_ENST00000490299.1_3'UTR NM_012424.3 NP_036556.2 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1 589 cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) ACATCAGATTCCCTCAGTAGA 0.463000 24 28 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 73014975 73014975 + Missense_Mutation SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:73014975T>C ENST00000261180.4 + 14 2518 c.2422T>C c.(2422-2424)Tac>Cac p.Y808H NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 808 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TCAAGCATCCTACCAACATGA 0.353000 7 49 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 124999970 124999970 + Splice_Site SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:124999970G>A ENST00000431078.1 + 3 745 c.381_splice c.e3+1 p.W127_splice NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 127 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) ACAGCATCTGGGTAGGACATC 0.423000 10 9 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 4 124 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79032714 79032714 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr5:79032714C>T ENST00000446378.2 + 2 8157 c.8126C>T c.(8125-8127)cCt>cTt p.P2709L NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2709 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CAACCACGTCCTTTAGAAGAA 0.403000 32 20 0 0 1 0 0 OR1L1 26737 broad.mit.edu 37 9 125424653 125424653 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr9:125424653G>A ENST00000373686.1 + 1 809 c.809G>A c.(808-810)aGa>aAa p.R270K Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, member 1 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 TCTTATTTAAGAATCCTCATC 0.423000 172 28 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129566555 129566555 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:129566555C>T ENST00000422113.2 - 7 1998 c.1672G>A c.(1672-1674)Gag>Aag p.E558K TMEM132D_ENST00000389441.4_Missense_Mutation_p.E96K NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 558 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TCATCCTCCTCCTCTTCACTG 0.642000 16 57 0 0 1 0 0 SLC2A11 66035 broad.mit.edu 37 22 24210750 24210750 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr22:24210750C>T ENST00000345044.6 + 3 471 c.203C>T c.(202-204)tCc>tTc p.S68F SLC2A11_ENST00000403208.3_Missense_Mutation_p.S68F|SLC2A11_ENST00000398356.2_Missense_Mutation_p.S75F|SLC2A11_ENST00000316185.8_Missense_Mutation_p.S71F|SLC2A11_ENST00000467660.1_3'UTR|AP000350.10_ENST00000433835.3_Missense_Mutation_p.S33F|SLC2A11_ENST00000405847.1_Missense_Mutation_p.S68F Q9BYW1 GTR11_HUMAN solute carrier family 2 (facilitated glucose transporter), member 11 68 integral to membrane|plasma membrane sugar transmembrane transporter activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 12 CTTATGTGGTCCCTCATCGTG 0.562000 58 69 0 0 1 0 0 PLXNA3 55558 broad.mit.edu 37 X 153692027 153692027 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:153692027G>A ENST00000369682.3 + 6 1716 c.1541G>A c.(1540-1542)cGa>cAa p.R514Q NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 514 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGTGTGCTGCGACACAGGTGA 0.731000 7 1 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50936947 50936947 + Nonsense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr18:50936947C>T ENST00000442544.2 + 20 3677 c.3061C>T c.(3061-3063)Cga>Tga p.R1021* DCC_ENST00000581580.1_Nonsense_Mutation_p.R656*|DCC_ENST00000412726.1_Nonsense_Mutation_p.R849* NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1021 Fibronectin type-III 6. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GTATTACTTTCGAATTCAAGC 0.378000 39 11 0 0 1 0 0 TSC2 7249 broad.mit.edu 37 16 2129087 2129087 + Silent SNP C C T rs137854287 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:2129087C>T ENST00000219476.3 + 27 3651 c.3021C>T c.(3019-3021)tcC>tcT p.S1007S TSC2_ENST00000439673.2_Silent_p.S927S|TSC2_ENST00000401874.2_Silent_p.S963S|TSC2_ENST00000382538.6_Silent_p.S915S|TSC2_ENST00000568454.1_Silent_p.S974S|TSC2_ENST00000350773.4_Silent_p.S1007S|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000353929.4_Silent_p.S964S NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 1007 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) ATGAGAACTCCGTGGCCCAGG 0.602000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 59 65 0 0 1 0 0 OR9A4 130075 broad.mit.edu 37 7 141618998 141618998 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr7:141618998G>A ENST00000548136.1 + 1 382 c.323G>A c.(322-324)gGg>gAg p.G108E MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) CTTGCTGTGGGGACAACAGAG 0.493000 61 98 0 0 1 0 0 BRD1 23774 broad.mit.edu 37 22 50217205 50217205 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr22:50217205C>T ENST00000216267.8 - 1 1247 c.761G>A c.(760-762)gGc>gAc p.G254D BRD1_ENST00000457780.2_Missense_Mutation_p.G254D|BRD1_ENST00000404760.1_Missense_Mutation_p.G254D|BRD1_ENST00000404034.1_Missense_Mutation_p.G254D NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 254 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) GAGCCACTGGCCCTCGGGGAT 0.637000 52 29 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33293957 33293957 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:33293957G>A ENST00000280979.4 + 13 7108 c.6938G>A c.(6937-6939)cGa>cAa p.R2313Q AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 2313 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CATGAAAAACGACATAGAAAT 0.413000 64 48 0 0 1 0 0 IGSF9 57549 broad.mit.edu 37 1 159897662 159897662 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:159897662C>T ENST00000368094.1 - 20 3443 c.3246G>A c.(3244-3246)gtG>gtA p.V1082V IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Silent_p.V1066V NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 1082 cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) AGTTCTCGTCCACAGATGTGT 0.488000 22 41 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22363276 22363276 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:22363276G>A ENST00000397121.2 - 3 1560 c.1243C>T c.(1243-1245)Cat>Tat p.H415Y NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 415 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TCTCCAGTATGAATTCTCTTA 0.433000 48 57 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16945182 16945184 + RNA DEL AAT AAT - rs59197507 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr1:16945182_16945184delAAT ENST00000412962.1 - 0 2335_2337 TACTGATGAAAATAATAACAGAT 0.325 2 4 --- --- --- --- LOC102724691 102724691 broad.mit.edu 37 2 105625936 105625936 + RNA DEL T T - TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:105625936delT ENST00000456519.1 - 0 43 gatgaataactcaaatatctg 0.308 2 4 --- --- --- --- RP11-105N14.2 0 broad.mit.edu 37 2 214135072 214135072 + RNA DEL A A - rs78003063 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr2:214135072delA ENST00000606960.1 - 0 81 actccgtctcaaaaaaaaaaa 0.398 2 4 --- --- --- --- FAM157A 728262 broad.mit.edu 37 3 197895603 197895603 + RNA DEL G G - TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr3:197895603delG ENST00000437428.2 + 0 903 C9JC47 F157A_HUMAN NS(1)|skin(1) 2 TCCACACCATGCCCTATCACT 0.408 2 4 --- --- --- --- ADH5 128 broad.mit.edu 37 4 99996084 99996100 + Frame_Shift_Del DEL CCATGTGCGACCTGTTA CCATGTGCGACCTGTTA - TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:99996084_99996100delCCATGTGCGACCTGTTA ENST00000296412.8 - 7 976_992 c.926_942delTAACAGGTCGCACATGG c.(925-942)gfs p.VTGRTW309fs NM_000671.3 NP_000662.3 P11766 ADHX_HUMAN alcohol dehydrogenase 5 (class III), chi polypeptide 309 V -> I (in dbSNP:rs28730628). ethanol oxidation|response to redox state alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding p.T313T(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 13 OV - Ovarian serous cystadenocarcinoma(123;2.5e-07) NADH(DB00157) CAGTGCCTTTCCATGTGCGACCTGTTACCAGCTGGAA 0.488 81 213 --- --- --- --- ADH1C 126 broad.mit.edu 37 4 100264434 100264434 + RNA DEL A A - TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr4:100264434delA ENST00000515683.1 - 0 919 ADH1C_ENST00000510055.1_RNA NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) tcatctggggagctttaaaaa 0.423 2 4 --- --- --- --- RP1-223B1.1 0 broad.mit.edu 37 6 3617092 3617092 + RNA DEL T T - TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:3617092delT ENST00000443445.1 - 0 500 aagagctctcttttgccactt 0.582 2 4 --- --- --- --- LOC101928663 101928663 broad.mit.edu 37 6 25250394 25250395 + RNA DEL TA TA - rs9393631 by1000genomes TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr6:25250394_25250395delTA ENST00000413898.2 - 0 635 cttttttttttatttttgagat 0.450 2 4 --- --- --- --- CCDC26 137196 broad.mit.edu 37 8 130474495 130474496 + RNA DEL CC CC - TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr8:130474495_130474496delCC ENST00000446592.3 - 0 360 acgtgaccctccaggatcatgg 0.406 2 4 --- --- --- --- LINC01410 103352539 broad.mit.edu 37 9 66458154 66458155 + RNA INS - - C rs142957926 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr9:66458154_66458155insC ENST00000424345.1 + 0 67 RNA5SP283_ENST00000365604.1_RNA agcctacggtaccgctattacc 0.619 7 12 --- --- --- --- ADM 133 broad.mit.edu 37 11 10328106 10328108 + In_Frame_Del DEL CGG CGG - TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:10328106_10328108delCGG ENST00000528655.1 + 3 1093_1095 c.476_478delCGG c.(475-480)cgt>c p.PG159del ADM_ENST00000278175.5_In_Frame_Del_p.PG159del|ADM_ENST00000530439.1_In_Frame_Del_p.PG91del|ADM_ENST00000525063.1_In_Frame_Del_p.PG159del|ADM_ENST00000534464.1_In_Frame_Del_p.PG112del P35318 ADML_HUMAN adrenomedullin 159 blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding cytoplasm|extracellular space|soluble fraction hormone activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1) 6 all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257) gaggccggcccgggTCGGACTCT 0.655 25 29 --- --- --- --- LOC101928989 101928989 broad.mit.edu 37 11 81919405 81919405 + RNA DEL T T - TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr11:81919405delT ENST00000500502.1 - 0 431 cctatttttattatatttggt 0.358 2 4 --- --- --- --- RP11-408B11.2 0 broad.mit.edu 37 12 85713278 85713278 + RNA DEL C C - TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr12:85713278delC ENST00000555596.1 + 0 78 cccttcctctcccccctacat 0.547 2 4 --- --- --- --- RP11-754I20.1 0 broad.mit.edu 37 14 19115150 19115151 + RNA INS - - T rs149486110 by1000genomes TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:19115150_19115151insT ENST00000553170.1 + 0 245 TTTCCCACCTGTTTTTTTTTTC 0.277 2 4 --- --- --- --- MAP4K5 11183 broad.mit.edu 37 14 50930796 50930796 + Frame_Shift_Del DEL T T - TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr14:50930796delT ENST00000013125.4 - 12 1111 c.793delA c.(793-795)gafs p.R265fs NM_006575.4|NM_198794.2 NP_006566.2|NP_942089.1 Q9Y4K4 M4K5_HUMAN mitogen-activated protein kinase kinase kinase kinase 5 265 Protein kinase. activation of JUN kinase activity cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity p.R265fs*8(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_epithelial(31;0.000415)|Breast(41;0.0102) GCAGTTGGTCTTTTTTTTGGG 0.308 3 5 --- --- --- --- B2M 567 broad.mit.edu 37 15 45003799 45003813 + Splice_Site DEL GAGGCTATCCAGCGT GAGGCTATCCAGCGT - TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr15:45003799_45003813delGAGGCTATCCAGCGT ENST00000558401.1 + 1 125_137 c.67_splice c.e1+1 p.19_splice B2M_ENST00000559916.1_Splice_Site_p.19_splice|B2M_ENST00000544417.1_Splice_Site_p.19_splice NM_004048.2 NP_004039.1 P61769 B2MG_HUMAN beta-2-microglobulin 19 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction early endosome membrane|Golgi membrane|MHC class I protein complex protein binding p.?(2) breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 59 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) TTCTGGCCTGGAGGCTATCCAGCGTGAGTCTCTCC 0.628 36 12 --- --- --- --- RP11-66B24.5 0 broad.mit.edu 37 15 101263087 101263087 + RNA DEL A A - TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr15:101263087delA ENST00000559755.1 + 0 123 TCCCTAAGGGAAAAAAAAAAC 0.418 3 4 --- --- --- --- CDH1 999 broad.mit.edu 37 16 68835626 68835627 + Frame_Shift_Ins INS - - C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr16:68835626_68835627insC ENST00000261769.5 + 3 408_409 c.217_218insC c.(217-219)ccgfs p.P73fs CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Frame_Shift_Ins_p.P73fs NM_004360.3 NP_004351.1 P12830 CADH1_HUMAN cadherin 1, type 1, E-cadherin (epithelial) 73 adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.?(2) NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 311 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) TTCCCTCGACACCCGATTCAAA 0.465 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer 82 95 --- --- --- --- FLJ36000 284124 broad.mit.edu 37 17 21909654 21909654 + RNA DEL C C - TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:21909654delC ENST00000581223.2 + 0 379 NR_027084.1 GCACTTCGCACCCCTCCTGTT 0.582 2 4 --- --- --- --- RP11-697E22.2 0 broad.mit.edu 37 17 36003614 36003615 + RNA DEL TT TT - rs10543338 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr17:36003614_36003615delTT ENST00000586163.1 + 0 590 RP11-697E22.2_ENST00000586950.1_RNA ATTAtttatctttttttttttt 0.505 3 4 --- --- --- --- CTD-2015H3.2 0 broad.mit.edu 37 18 1730321 1730322 + RNA INS - - GGGATTAA rs144546207 by1000genomes TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr18:1730321_1730322insGGGATTAA ENST00000580524.1 + 0 408 ggggggccatggggattAAGAC 0.386 3 6 --- --- --- --- DYM 54808 broad.mit.edu 37 18 46858341 46858341 + Frame_Shift_Del DEL A A - TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr18:46858341delA ENST00000269445.6 - 8 1113 c.656delT c.(655-657)tafs p.L219fs DYM_ENST00000578396.1_Frame_Shift_Del_p.L64fs|DYM_ENST00000442713.2_Intron NM_017653.3 NP_060123.3 Q7RTS9 DYM_HUMAN dymeclin 219 Golgi apparatus NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 18 AAAGTTATATAATAAGGTCTT 0.398 32 31 --- --- --- --- SPPL2B 56928 broad.mit.edu 37 19 2348975 2348976 + RNA DEL TC TC - TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr19:2348975_2348976delTC ENST00000452401.2 + 0 1431 AC005258.3_ENST00000590001.1_RNA Q8TCT7 PSL1_HUMAN signal peptide peptidase like 2B Golgi membrane|integral to membrane aspartic-type endopeptidase activity 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) TTGATTCCGTTCTCTCTCCACA 0.520 3 5 --- --- --- --- CRNKL1 51340 broad.mit.edu 37 20 20020266 20020266 + Frame_Shift_Del DEL A A - TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr20:20020266delA ENST00000377340.2 - 12 2046 c.2015delT c.(2014-2016)tafs p.L672fs CRNKL1_ENST00000377327.4_Frame_Shift_Del_p.L660fs|CRNKL1_ENST00000536226.1_Frame_Shift_Del_p.L511fs NM_001278628.1|NM_016652.4 NP_001265557.1|NP_057736.4 Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 672 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 TGGCATGTCTAAACGTGGCTG 0.378 76 103 --- --- --- --- ADNP 23394 broad.mit.edu 37 20 49509856 49509856 + Frame_Shift_Del DEL G G - TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr20:49509856delG ENST00000396029.3 - 5 1962 c.1395delC c.(1393-1395)ttfs p.F465fs ADNP_ENST00000396032.3_Frame_Shift_Del_p.F465fs|ADNP_ENST00000349014.3_Frame_Shift_Del_p.F465fs|ADNP_ENST00000371602.4_Frame_Shift_Del_p.F465fs NM_015339.2 NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 465 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.F465F(1) NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 GTTCTTTTTCGAAGTGCACAC 0.388 167 207 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11058816 11058817 + RNA INS - - AAC rs151011637 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr21:11058816_11058817insAAC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CTCACAAAAAAAAAACTACATA 0.277 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11065298 11065299 + RNA INS - - AGC rs56754608 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr21:11065298_11065299insAGC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ataacaaataGAGCAGCATTTC 0.337 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11065360 11065360 + RNA DEL T T - rs148837406 TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chr21:11065360delT ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATTTTTAAGATTTTTTTTTAC 0.308 4 5 --- --- --- --- MAGEB17 645864 broad.mit.edu 37 X 16188527 16188527 + Frame_Shift_Del DEL A A - TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8c5aa9b-2524-4f8b-890a-4bddf7948fa6 f91db11c-f0d3-44b5-bb18-d650ef59558f g.chrX:16188527delA ENST00000400004.2 + 2 374 c.22delA c.(22-24)agfs p.K8fs MAGEB17_ENST00000329538.5_Frame_Shift_Del_p.8fs|MAGEB17_ENST00000400003.1_Frame_Shift_Del_p.K8fs|RP11-431J24.2_ENST00000435789.1_RNA NM_001277307.1 NP_001264236.1 melanoma antigen family B, 17 TCAGGCGAGTAAGCGCCGTGC 0.627 2 4 --- --- --- ---