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 ZNF527 84503 broad.mit.edu 37 19 37880337 37880337 + Missense_Mutation SNP A A T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr19:37880337A>T ENST00000436120.2 + 5 1493 c.1386A>T c.(1384-1386)agA>agT p.R462S ZNF527_ENST00000587349.1_Intron NM_032453.1 NP_115829.1 Q8NB42 ZN527_HUMAN zinc finger protein 527 462 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AACATCAGAGAATTCATACCG 0.403000 4 63 0 0 1 0 0 EBNA1BP2 10969 broad.mit.edu 37 1 43630368 43630368 + Silent SNP C C A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr1:43630368C>A ENST00000431635.2 - 9 1129 c.981G>T c.(979-981)cgG>cgT p.R327R EBNA1BP2_ENST00000236051.2_Silent_p.R272R NM_001159936.1 NP_001153408.1 Q99848 EBP2_HUMAN EBNA1 binding protein 2 272 ribosome biogenesis membrane fraction|nucleolus protein binding endometrium(1)|kidney(2)|large_intestine(4)|lung(9) 16 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTGTCTTGGCCCGGAAGCTAG 0.527000 11 55 5.16669e-11 7.33959e-11 1 1 0 PDE4DIP 9659 broad.mit.edu 37 1 144882638 144882638 + Missense_Mutation SNP G G C TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr1:144882638G>C ENST00000369359.4 - 27 3830 c.3792C>G c.(3790-3792)agC>agG p.S1264R PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1264R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1127R|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1127R|PDE4DIP_ENST00000313382.9_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1127 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TCCCTTCCTTGCTACTCAGCA 0.468000 T PDGFRB MPD 19 224 0 0 1 0 0 MYRF 745 broad.mit.edu 37 11 61549225 61549225 + Missense_Mutation SNP G G A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr11:61549225G>A ENST00000278836.5 + 22 3041 c.2945G>A c.(2944-2946)gGc>gAc p.G982D MYRF_ENST00000389602.4_Missense_Mutation_p.G373D|MYRF_ENST00000265460.5_Missense_Mutation_p.G947D|TMEM258_ENST00000535042.1_Intron NM_001127392.1 NP_001120864.1 myelin regulatory factor GGTTTCCATGGCCGGGCCCGC 0.672000 10 37 0 0 1 0 0 TSPAN11 441631 broad.mit.edu 37 12 31132592 31132592 + Missense_Mutation SNP G G A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr12:31132592G>A ENST00000261177.9 + 5 502 c.443G>A c.(442-444)cGa>cAa p.R148Q TSPAN11_ENST00000546076.1_Missense_Mutation_p.R148Q|TSPAN11_ENST00000535215.1_Missense_Mutation_p.R77Q|TSPAN11_ENST00000544427.1_Missense_Mutation_p.R138Q NM_001080509.2 NP_001073978.1 A1L157 TSN11_HUMAN tetraspanin 11 148 integral to membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2) 11 all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) TCAGTGGACCGACTCCAGCAG 0.572000 3 32 0 0 1 0 0 ZNF354A 6940 broad.mit.edu 37 5 178139986 178139986 + Missense_Mutation SNP T T C TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr5:178139986T>C ENST00000335815.2 - 5 1090 c.893A>G c.(892-894)tAc>tGc p.Y298C NM_005649.2 NP_005640.2 O60765 Z354A_HUMAN zinc finger protein 354A 298 regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2) 19 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|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) all cancers(165;0.185) TTTACATCTGTAGGATTTCTC 0.383000 11 57 0 0 1 0 0 ZNF704 619279 broad.mit.edu 37 8 81577153 81577153 + Missense_Mutation SNP C C A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr8:81577153C>A ENST00000327835.3 - 6 1055 c.824G>T c.(823-825)cGa>cTa p.R275L NM_001033723.2 NP_001028895.1 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 275 intracellular zinc ion binding lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) AGTTTCTGTTCGGCTTGAATC 0.577000 8 77 1.12685e-05 1.43934e-05 1 1 0 SH3BP5 9467 broad.mit.edu 37 3 15311359 15311359 + Missense_Mutation SNP G G A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr3:15311359G>A ENST00000383791.3 - 4 576 c.356C>T c.(355-357)aCg>aTg p.T119M SH3BP5_ENST00000465894.2_5'UTR|SH3BP5_ENST00000408919.3_De_novo_Start_InFrame|SH3BP5_ENST00000426925.1_De_novo_Start_InFrame|SH3BP5_ENST00000253688.5_De_novo_Start_InFrame NM_004844.4 NP_004835.2 O60239 3BP5_HUMAN SH3-domain binding protein 5 (BTK-associated) 119 intracellular signal transduction mitochondrion protein kinase inhibitor activity|SH3 domain binding NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 12 GAAGTCCTGCGTGGCTTTCTG 0.577000 5 95 0 0 1 0 0 ZNF706 51123 broad.mit.edu 37 8 102213947 102213947 + Missense_Mutation SNP A A T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr8:102213947A>T ENST00000520347.1 - 2 2979 c.23T>A c.(22-24)aTt>aAt p.I8N ZNF706_ENST00000517844.1_Missense_Mutation_p.I8N|ZNF706_ENST00000311212.4_Missense_Mutation_p.I8N|ZNF706_ENST00000519744.1_Missense_Mutation_p.I8N|ZNF706_ENST00000518336.1_Missense_Mutation_p.I8N|ZNF706_ENST00000519882.1_Missense_Mutation_p.I8N|ZNF706_ENST00000520984.1_Missense_Mutation_p.I8N|ZNF706_ENST00000521272.1_Missense_Mutation_p.I8N Q9Y5V0 ZN706_HUMAN zinc finger protein 706 8 intracellular zinc ion binding large_intestine(1)|ovary(2) 3 all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117) Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05) CTGAGACTGAATTTTCTGCTG 0.393000 10 37 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 4 62 0 0 1 0 0 RGS5 8490 broad.mit.edu 37 1 163117184 163117184 + Missense_Mutation SNP T T C TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr1:163117184T>C ENST00000313961.5 - 5 771 c.494A>G c.(493-495)gAt>gGt p.D165G RGS5_ENST00000527988.1_Missense_Mutation_p.D57G|RGS5_ENST00000530507.1_Missense_Mutation_p.D169G|RGS5_ENST00000367903.3_Missense_Mutation_p.D185G NM_001254749.1|NM_003617.3 NP_001241678.1|NP_003608.1 O15539 RGS5_HUMAN regulator of G-protein signaling 5 165 RGS. negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|plasma membrane GTPase activator activity|signal transducer activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 LUSC - Lung squamous cell carcinoma(543;0.187) AGGCAGAGAATCCTTTTCCAT 0.443000 16 54 0 0 1 0 0 OR14I1 401994 broad.mit.edu 37 1 248845027 248845027 + Silent SNP T T C TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr1:248845027T>C ENST00000342623.3 - 1 602 c.579A>G c.(577-579)gtA>gtG p.V193V NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 193 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 TCAAAAACTCTACAAAGAAAA 0.478000 19 43 0 0 1 0 0 CLMN 79789 broad.mit.edu 37 14 95688095 95688095 + Missense_Mutation SNP G G T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr14:95688095G>T ENST00000298912.4 - 4 370 c.257C>A c.(256-258)tCc>tAc p.S86Y NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 86 Actin-binding.|CH 1. integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) ATGCGACGAGGATTTGTATTC 0.438000 3 27 0.004672 0.00510895 1 1 0 LHCGR 3973 broad.mit.edu 37 2 48915911 48915911 + Missense_Mutation SNP C C A rs149957775 TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr2:48915911C>A ENST00000294954.7 - 11 1046 c.1025G>T c.(1024-1026)cGa>cTa p.R342L LHCGR_ENST00000405626.1_Missense_Mutation_p.R315L|LHCGR_ENST00000403273.1_Intron|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.R280L|STON1-GTF2A1L_ENST00000402114.2_Intron NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 342 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) AGGAGCACATCGGGGTGTCTT 0.428000 15 110 3.52763e-06 4.62241e-06 1 1 0 MAX 4149 broad.mit.edu 37 14 65544713 65544713 + Silent SNP G G A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr14:65544713G>A ENST00000284165.6 - 4 361 c.213C>T c.(211-213)atC>atT p.I71I MAX_ENST00000358402.4_Silent_p.I62I|MAX_ENST00000358664.4_Silent_p.I71I|MAX_ENST00000341653.2_Intron|MAX_ENST00000557746.1_Silent_p.I62I|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000556979.1_Silent_p.I71I|MAX_ENST00000556443.1_Silent_p.I62I|MAX_ENST00000555932.1_Intron|MAX_ENST00000555667.1_Silent_p.I62I|MAX_ENST00000555419.1_Silent_p.I35I NM_145113.1 NP_660088.1 P61244 MAX_HUMAN MYC associated factor X 71 Helix-loop-helix motif. transcription from RNA polymerase II promoter cytoplasm|MLL1 complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 17 all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999) GCATATACTGGATATATTCTG 0.493000 7 35 0 0 1 0 0 TNFRSF10A 8797 broad.mit.edu 37 8 23054712 23054712 + Silent SNP C C A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr8:23054712C>A ENST00000221132.3 - 9 1084 c.1020G>T c.(1018-1020)ccG>ccT p.P340P NM_003844.3 NP_003835.3 O00220 TR10A_HUMAN tumor necrosis factor receptor superfamily, member 10a 340 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1) 16 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) CAGCTTCTGCCGGTCCCTGTA 0.562000 7 85 8.12818e-05 9.5774e-05 1 1 0 GPRC5B 51704 broad.mit.edu 37 16 19884024 19884024 + Silent SNP C C G TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr16:19884024C>G ENST00000300571.2 - 2 335 c.144G>C c.(142-144)ctG>ctC p.L48L GPRC5B_ENST00000569847.1_Silent_p.L48L|GPRC5B_ENST00000535671.1_Silent_p.L48L|GPRC5B_ENST00000569479.1_Silent_p.L48L|GPRC5B_ENST00000537135.1_Silent_p.L74L NM_016235.1 NP_057319.1 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, member B 48 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 CCAGGTCGCACAGGGACACGT 0.652000 10 45 0 0 1 0 0 DOCK10 55619 broad.mit.edu 37 2 225750440 225750440 + Missense_Mutation SNP G G A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr2:225750440G>A ENST00000409592.3 - 7 790 c.677C>T c.(676-678)tCc>tTc p.S226F DOCK10_ENST00000258390.7_Missense_Mutation_p.S232F Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 232 PH. GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) GGGTTCTTTGGATATTTTCTC 0.363000 5 21 0 0 1 0 0 WHAMMP3 339005 broad.mit.edu 37 15 23191911 23191911 + RNA SNP C C T rs147199465 by1000genomes TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr15:23191911C>T ENST00000400153.2 - 0 1785 NR_003521.1 TGATTTTCTTCGCACTGATCC 0.408000 4 33 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22941413 22941413 + Missense_Mutation SNP G G T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr19:22941413G>T ENST00000397104.3 - 5 1024 c.1025C>A c.(1024-1026)gCt>gAt p.A342D ZNF99_ENST00000596209.1_Missense_Mutation_p.A433D 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) ACGCTTAAAAGCTTTGCCACA 0.363000 5 31 0.000602214 0.000673063 1 1 0 ZACN 353174 broad.mit.edu 37 17 74077707 74077707 + Missense_Mutation SNP G G A rs146722649 TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr17:74077707G>A ENST00000334586.5 + 7 834 c.751G>A c.(751-753)Ggg>Agg p.G251R EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR NM_180990.3 NP_851321.2 Q401N2 ZACN_HUMAN zinc activated ligand-gated ion channel 251 Leu-rich. response to zinc ion integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 11 TGACGTGTGCGGGGGGTTGCT 0.612000 10 129 0 0 1 0 0 FCHO1 23149 broad.mit.edu 37 19 17883286 17883286 + Silent SNP G G A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr19:17883286G>A ENST00000594202.1 + 10 894 c.615G>A c.(613-615)gaG>gaA p.E205E FCHO1_ENST00000596951.1_Silent_p.E205E|FCHO1_ENST00000596536.1_Silent_p.E205E|FCHO1_ENST00000252771.7_Silent_p.E205E|FCHO1_ENST00000539407.1_Silent_p.E205E|FCHO1_ENST00000389133.4_Silent_p.E205E|FCHO1_ENST00000595033.1_Silent_p.E155E|FCHO1_ENST00000597512.1_Silent_p.E212E|FCHO1_ENST00000600676.1_Silent_p.E205E NM_001161357.1 NP_001154829.1 O14526 FCHO1_HUMAN FCH domain only 1 205 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 CCATGGAGGAGACACACCTGA 0.582000 4 32 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 102991263 102991263 + Nonsense_Mutation SNP G G T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr11:102991263G>T ENST00000375735.2 + 7 1231 c.1087G>T c.(1087-1089)Gaa>Taa p.E363* DYNC2H1_ENST00000334267.7_Nonsense_Mutation_p.E363*|DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.E363* NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 363 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TCGAGTATTTGAACCTTTTAC 0.338000 25 142 4.72057e-08 6.2941e-08 1 1 0 HSF5 124535 broad.mit.edu 37 17 56536222 56536222 + Missense_Mutation SNP C C T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr17:56536222C>T ENST00000323777.3 - 5 1736 c.1627G>A c.(1627-1629)Ggg>Agg p.G543R NM_001080439.1 NP_001073908.1 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 543 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTAGCAGGCCCCATTTCTGAA 0.468000 10 143 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 6 34 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10300161 10300161 + Missense_Mutation SNP C C T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr17:10300161C>T ENST00000403437.2 - 31 4415 c.4321G>A c.(4321-4323)Gcc>Acc p.A1441T CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1441 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 GCTGCACAGGCTGCATTAGAC 0.468000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 8 51 0 0 1 0 0 TOP3A 7156 broad.mit.edu 37 17 18205695 18205695 + Missense_Mutation SNP C C T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr17:18205695C>T ENST00000321105.5 - 7 911 c.697G>A c.(697-699)Gtg>Atg p.V233M TOP3A_ENST00000542570.1_Missense_Mutation_p.V138M NM_004618.3 NP_004609.1 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 233 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1) 36 TCTGCCAGCACCTCAGGAAAA 0.512000 3 27 0 0 1 0 0 ZNF727 442319 broad.mit.edu 37 7 63529299 63529299 + Missense_Mutation SNP G G C TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr7:63529299G>C ENST00000550760.3 + 2 213 c.34G>C c.(34-36)Gaa>Caa p.E12Q RP11-3N2.13_ENST00000445978.1_RNA NM_001159522.1 NP_001152994.1 A8MUV8 ZN727_HUMAN zinc finger protein 727 12 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1) 8 TGTGGCTGTAGAATTCTCCCC 0.423000 3 13 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106070416 106070416 + Missense_Mutation SNP A A C TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chrX:106070416A>C ENST00000357242.5 + 7 1226 c.1052A>C c.(1051-1053)aAg>aCg p.K351T TBC1D8B_ENST00000276175.3_Missense_Mutation_p.K351T|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.K351T|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.K351T NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 351 GRAM 2. 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 GCTATAGATAAGACAAATGAT 0.348000 16 170 0 0 1 0 0 CROT 54677 broad.mit.edu 37 7 87022300 87022300 + Silent SNP G G T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr7:87022300G>T ENST00000331536.3 + 17 1820 c.1635G>T c.(1633-1635)ctG>ctT p.L545L CROT_ENST00000442291.1_Silent_p.L545L|CROT_ENST00000419147.2_Silent_p.L573L NM_021151.3 NP_066974.2 Q9UKG9 OCTC_HUMAN carnitine O-octanoyltransferase 545 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) CAACAAGTCTGGTTGGCTATT 0.408000 21 126 4.35082e-09 6.01204e-09 1 1 0 OR4S2 219431 broad.mit.edu 37 11 55418445 55418445 + Missense_Mutation SNP G G T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr11:55418445G>T ENST00000312422.2 + 1 66 c.66G>T c.(64-66)gaG>gaT p.E22D NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) CAGAGATTGAGAAAGTTTGTT 0.373000 4 65 0.150653 0.154725 1 1 0 CPD 1362 broad.mit.edu 37 17 28776584 28776584 + Missense_Mutation SNP A A T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr17:28776584A>T ENST00000225719.4 + 13 2963 c.2887A>T c.(2887-2889)Act>Tct p.T963S CPD_ENST00000543464.2_Missense_Mutation_p.T716S NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 963 Carboxypeptidase-like 3. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 GGGACAGAGCACTGAATATCG 0.353000 12 91 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28968923 28968923 + Silent SNP C C T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr18:28968923C>T ENST00000359747.4 + 5 488 c.459C>T c.(457-459)aaC>aaT p.N153N RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Silent_p.N153N|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 153 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) TAAATGATAACGCTCCAGTCT 0.413000 27 71 0 0 1 0 0 IGKV1D-16 28901 broad.mit.edu 37 2 90139426 90139426 + RNA SNP C C A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr2:90139426C>A ENST00000492446.1 + 0 224 GAGAAAGCCCCTAAGTCCCTG 0.527000 21 188 2.37509e-13 3.50499e-13 1 1 0 RRP12 23223 broad.mit.edu 37 10 99161040 99161040 + Translation_Start_Site SNP G G A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr10:99161040G>A ENST00000370992.4 - 0 60 RP11-452K12.7_ENST00000422848.1_RNA|RRP12_ENST00000315563.6_5'UTR|RRP12_ENST00000414986.1_De_novo_Start_OutOfFrame NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) 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) TTCCAGGGACGTAGAAACACG 0.512000 3 25 0 0 1 0 0 SNTG1 54212 broad.mit.edu 37 8 51442786 51442786 + Silent SNP T T C TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr8:51442786T>C ENST00000522124.1 + 10 1177 c.516T>C c.(514-516)agT>agC p.S172S SNTG1_ENST00000517473.1_Silent_p.S172S|SNTG1_ENST00000518864.1_Silent_p.S172S|SNTG1_ENST00000276467.5_Silent_p.S172S NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 172 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TCTGTGACAGTGGCTTACATC 0.448000 6 65 0 0 1 0 0 TUBGCP3 10426 broad.mit.edu 37 13 113200110 113200110 + Missense_Mutation SNP G G C TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr13:113200110G>C ENST00000261965.3 - 11 1424 c.1238C>G c.(1237-1239)tCt>tGt p.S413C TUBGCP3_ENST00000375669.3_Missense_Mutation_p.S413C|TUBGCP3_ENST00000462580.1_5'UTR NM_006322.4 NP_006313.1 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 413 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1) 25 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) CTGCACCAGAGACCGCATGTA 0.512000 8 95 0 0 1 0 0 FAM26F 441168 broad.mit.edu 37 6 116784525 116784525 + Missense_Mutation SNP T T A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr6:116784525T>A ENST00000368605.1 + 3 700 c.605T>A c.(604-606)gTt>gAt p.V202D RP1-93H18.6_ENST00000476099.1_RNA|FAM26F_ENST00000368606.3_Missense_Mutation_p.V30D NM_001010919.1 NP_001010919.1 Q5R3K3 FA26F_HUMAN family with sequence similarity 26, member F 202 integral to membrane large_intestine(2)|lung(1) 3 GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231) CTATCTCCAGTTAGTTTTCTG 0.393000 15 94 0 0 1 0 0 CXCL6 6372 broad.mit.edu 37 4 74702522 74702522 + Missense_Mutation SNP T T C TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr4:74702522T>C ENST00000226317.5 + 1 309 c.55T>C c.(55-57)Tgc>Cgc p.C19R CXCL6_ENST00000515050.1_Missense_Mutation_p.C19R NM_002993.3 NP_002984.1 P80162 CXCL6_HUMAN chemokine (C-X-C motif) ligand 6 19 cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction extracellular space chemokine activity|heparin binding large_intestine(1)|lung(7) 8 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) GGGCTCCTTGTGCGCGCTGCT 0.731000 3 8 0 0 1 0 0 SLC35D1 23169 broad.mit.edu 37 1 67517708 67517708 + Missense_Mutation SNP T T C TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr1:67517708T>C ENST00000235345.5 - 4 464 c.379A>G c.(379-381)Aca>Gca p.T127A SLC35D1_ENST00000506472.2_Missense_Mutation_p.T48A NM_015139.2 NP_055954.1 Q9NTN3 S35D1_HUMAN solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1 127 chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process integral to endoplasmic reticulum membrane UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity endometrium(2)|kidney(1)|large_intestine(3)|lung(4) 10 Lorazepam(DB00186) AGTTTCTTTGTGCTGAACAGT 0.289000 5 61 0 0 1 0 0 GLUL 2752 broad.mit.edu 37 1 182354917 182354917 + Missense_Mutation SNP T T A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr1:182354917T>A ENST00000311223.5 - 6 1477 c.581A>T c.(580-582)aAt>aTt p.N194I GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000417584.2_Missense_Mutation_p.N194I|GLUL_ENST00000331872.6_Missense_Mutation_p.N194I|GLUL_ENST00000339526.4_Missense_Mutation_p.N194I NM_002065.5 NP_002056.2 P15104 GLNA_HUMAN glutamate-ammonia ligase 194 cell proliferation|glutamine biosynthetic process|neurotransmitter uptake cytosol|Golgi apparatus|mitochondrion ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1) 16 Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134) GACCTCGGCATTAGTCCCCGC 0.517000 46 286 0 0 1 0 0 GALNT12 79695 broad.mit.edu 37 9 101585613 101585613 + Missense_Mutation SNP G G T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr9:101585613G>T ENST00000375011.3 + 2 447 c.447G>T c.(445-447)tgG>tgT p.W149C NM_024642.4 NP_078918.3 Q8IXK2 GLT12_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) 149 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(62;0.0559) ATGAAGCCTGGTCAACTCTCC 0.418000 4 66 0.00024832 0.000290343 1 1 0 CDH7 1005 broad.mit.edu 37 18 63547761 63547761 + Silent SNP G G T rs142025693 TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr18:63547761G>T ENST00000397968.2 + 12 2415 c.1989G>T c.(1987-1989)acG>acT p.T663T CDH7_ENST00000323011.3_Silent_p.T663T NM_004361.2 NP_004352.2 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 663 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) AGGAGGACACGGAAGCGTTTG 0.493000 16 44 4.14922e-12 6.00649e-12 1 1 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587518 43587518 + RNA SNP C C T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr17:43587518C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tgccgtgagccgagatcgcgt 0.498000 8 10 0 0 1 0 0 HAPLN1 1404 broad.mit.edu 37 5 82940364 82940364 + Missense_Mutation SNP C C A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr5:82940364C>A ENST00000274341.4 - 4 1443 c.593G>T c.(592-594)tGg>tTg p.W198L NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 198 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) CCCGCCCCGCCAGGCGTCGTA 0.617000 10 42 3.86212e-05 4.7727e-05 1 1 0 PZP 5858 broad.mit.edu 37 12 9313709 9313709 + Missense_Mutation SNP G G T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr12:9313709G>T ENST00000261336.2 - 23 2820 c.2792C>A c.(2791-2793)gCt>gAt p.A931D PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Missense_Mutation_p.A717D NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 AGACACATTAGCACCTTTAGA 0.418000 8 55 0.000274275 0.000315832 1 1 0 EYS 346007 broad.mit.edu 37 6 66205197 66205197 + Missense_Mutation SNP G G A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr6:66205197G>A ENST00000503581.1 - 4 644 c.107C>T c.(106-108)cCc>cTc p.P36L EYS_ENST00000393380.2_Missense_Mutation_p.P36L|EYS_ENST00000342421.5_Missense_Mutation_p.P36L|EYS_ENST00000370616.2_Missense_Mutation_p.P36L|EYS_ENST00000370618.3_Missense_Mutation_p.P36L|EYS_ENST00000370621.3_Missense_Mutation_p.P36L NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 36 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 ATATGATGAGGGTTGTGGATG 0.388000 16 101 0 0 1 0 0 LOC100505782 100505782 broad.mit.edu 37 17 39580816 39580816 + RNA SNP G G C rs72485487 by1000genomes TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr17:39580816G>C ENST00000432258.1 + 0 3405 AGATCAGCTGGGAAGGCTGAG 0.587000 3 37 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14336661 14336661 + Missense_Mutation SNP C C T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr5:14336661C>T ENST00000344204.4 + 11 1895 c.1871C>T c.(1870-1872)gCg>gTg p.A624V TRIO_ENST00000509967.2_Missense_Mutation_p.A575V|TRIO_ENST00000537187.1_Missense_Mutation_p.A624V NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 624 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|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) TACACCAATGCGGATAAATTA 0.488000 4 52 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241710412 241710412 + Silent SNP G G A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr2:241710412G>A ENST00000498729.2 - 15 1563 c.1317C>T c.(1315-1317)agC>agT p.S439S KIF1A_ENST00000320389.7_Silent_p.S430S NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 430 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) TGGCCTCCTCGCTGCCCGGGG 0.652000 3 40 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48655562 48655562 + Missense_Mutation SNP C C G TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr17:48655562C>G ENST00000352832.5 + 9 2310 c.1938C>G c.(1936-1938)agC>agG p.S646R CACNA1G_ENST00000507896.1_Missense_Mutation_p.S646R|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S646R|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S646R|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S646R|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S646R|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S646R|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S646R|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S646R|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S646R|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S646R|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S646R|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S646R|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S646R|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S646R|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S646R|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S646R|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S646R|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S646R|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S646R|CACNA1G_ENST00000416767.4_Missense_Mutation_p.S646R|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S646R|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S646R|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S646R|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S646R|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S646R NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 646 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CCTGCCAAAGCTCTTGCAAGA 0.602000 4 48 0 0 1 0 0 WBP11P1 441818 broad.mit.edu 37 18 30092425 30092425 + RNA SNP C C G TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr18:30092425C>G ENST00000567636.1 + 0 800 NR_003558.1 TCCCCCTGGTCCACCCCCTCC 0.547000 8 68 0 0 1 0 0 IFNA7 3444 broad.mit.edu 37 9 21201678 21201678 + Missense_Mutation SNP C C A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr9:21201678C>A ENST00000239347.3 - 1 526 c.487G>T c.(487-489)Gcc>Tcc p.A163S NM_021057.2 NP_066401.2 P01567 IFNA7_HUMAN interferon, alpha 7 163 blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6) 12 GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) ACCTCCCAGGCACAAGGGCTG 0.418000 34 334 2.75727e-19 4.19105e-19 1 1 0 ZMYM3 9203 broad.mit.edu 37 X 70466527 70466527 + Nonsense_Mutation SNP G G T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chrX:70466527G>T ENST00000373998.1 - 14 3027 c.2330C>A c.(2329-2331)tCa>tAa p.S777* ZMYM3_ENST00000373984.3_Nonsense_Mutation_p.S779*|ZMYM3_ENST00000373988.1_Nonsense_Mutation_p.S779*|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Nonsense_Mutation_p.S777*|ZMYM3_ENST00000314425.5_Nonsense_Mutation_p.S777* NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 777 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) CTGGGGTTTTGACTCAGGAGA 0.488000 3 26 0.004672 0.00510895 1 1 0 ZNF543 125919 broad.mit.edu 37 19 57839339 57839339 + Missense_Mutation SNP A A G TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr19:57839339A>G ENST00000321545.4 + 4 854 c.509A>G c.(508-510)aAa>aGa p.K170R NM_213598.3 NP_998763.2 Q08ER8 ZN543_HUMAN zinc finger protein 543 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) ATTACACAGAAACAAGTTTCA 0.433000 14 74 0 0 1 0 0 RADIL 55698 broad.mit.edu 37 7 4839054 4839054 + Silent SNP G G A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr7:4839054G>A ENST00000399583.3 - 15 3370 c.3183C>T c.(3181-3183)gaC>gaT p.D1061D RADIL_ENST00000538469.1_Silent_p.D821D|RADIL_ENST00000536091.1_3'UTR NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 1061 PDZ. cell adhesion|multicellular organismal development|signal transduction protein binding p.D1061D(1) NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) CTGTTTCCACGTCGGACTTCG 0.642000 4 51 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33549426 33549426 + Missense_Mutation SNP G G T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr5:33549426G>T ENST00000504830.1 - 21 4523 c.4188C>A c.(4186-4188)gaC>gaA p.D1396E ADAMTS12_ENST00000352040.3_Missense_Mutation_p.D1311E NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1396 TSP type-1 6. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GGTTCCGGTGGTCCCGGCTGT 0.577000 HNSCC(64;0.19) 10 57 0.000442599 0.000505828 1 1 0 CRYBB2 1415 broad.mit.edu 37 22 25623918 25623918 + Missense_Mutation SNP C C T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr22:25623918C>T ENST00000398215.2 + 4 443 c.272C>T c.(271-273)aCg>aTg p.T91M NM_000496.2 NP_000487.1 P43320 CRBB2_HUMAN crystallin, beta B2 91 Beta/gamma crystallin 'Greek key' 2. response to stimulus|visual perception structural constituent of eye lens endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 10 AGCCGAAGGACGGACTCCCTC 0.597000 5 59 0 0 1 0 0 RAB3IP 117177 broad.mit.edu 37 12 70195461 70195461 + Missense_Mutation SNP C C T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr12:70195461C>T ENST00000550536.1 + 8 1595 c.1138C>T c.(1138-1140)Cgg>Tgg p.R380W RAB3IP_ENST00000483530.2_Missense_Mutation_p.R364W|RAB3IP_ENST00000362025.5_Missense_Mutation_p.R380W|RAB3IP_ENST00000553099.1_Missense_Mutation_p.R158W|RAB3IP_ENST00000325555.9_Missense_Mutation_p.R158W|RAB3IP_ENST00000551641.1_Missense_Mutation_p.R158W|RAB3IP_ENST00000247833.7_Missense_Mutation_p.R364W|RAB3IP_ENST00000550847.1_Missense_Mutation_p.R71W|AC025263.3_ENST00000550437.1_Missense_Mutation_p.R5W NM_001278402.1|NM_175623.2 NP_001265331.1|NP_783322.1 Q96QF0 RAB3I_HUMAN RAB3A interacting protein 380 cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding p.R380W(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) ACAACCTATCCGGTTTGTGAA 0.403000 7 39 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223177897 223177897 + Missense_Mutation SNP C C T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr1:223177897C>T ENST00000284476.6 + 8 3322 c.3158C>T c.(3157-3159)gCc>gTc p.A1053V NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 1053 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) GTAGACTTTGCCGTCCATTAT 0.542000 23 87 0 0 1 0 0 COL20A1 57642 broad.mit.edu 37 20 61941839 61941839 + Missense_Mutation SNP G G C TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr20:61941839G>C ENST00000422202.1 + 10 1459 c.1391G>C c.(1390-1392)gGc>gCc p.G464A COL20A1_ENST00000326996.6_Missense_Mutation_p.G457A|COL20A1_ENST00000435874.1_Missense_Mutation_p.G464A|COL20A1_ENST00000358894.6_Missense_Mutation_p.G457A Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 457 Fibronectin type-III 2. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) GTTGGCGAAGGCCTGCGGGGC 0.692000 3 13 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113518987 113518987 + Missense_Mutation SNP G G T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr8:113518987G>T ENST00000297405.5 - 29 5072 c.4828C>A c.(4828-4830)Cat>Aat p.H1610N CSMD3_ENST00000352409.3_Missense_Mutation_p.H1610N|CSMD3_ENST00000343508.3_Missense_Mutation_p.H1570N|CSMD3_ENST00000455883.2_Missense_Mutation_p.H1506N NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1610 CUB 9. integral to membrane|plasma membrane p.H1610Y(1)|p.H1570Y(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TCTCTGCTATGCGGATATGGA 0.383000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 10 56 6.40141e-05 7.72234e-05 1 1 0 ARRDC3 57561 broad.mit.edu 37 5 90678629 90678629 + Splice_Site SNP C C T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr5:90678629C>T ENST00000265138.3 - 1 547 c.e1+1 NM_020801.2 NP_065852.1 Q96B67 ARRD3_HUMAN arrestin domain containing 3 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 18 all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207) OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22) CAAAAACTTACCTCTTTCGTG 0.363000 6 91 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153138062 153138062 + Missense_Mutation SNP C C A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chrX:153138062C>A ENST00000370060.1 - 4 371 c.182G>T c.(181-183)gGc>gTc p.G61V L1CAM_ENST00000361699.4_Missense_Mutation_p.G61V|L1CAM_ENST00000543994.1_Missense_Mutation_p.G63V|L1CAM_ENST00000538883.1_Missense_Mutation_p.G63V|L1CAM_ENST00000370055.1_Missense_Mutation_p.G56V|L1CAM_ENST00000370057.3_Missense_Mutation_p.G61V|L1CAM_ENST00000361981.3_Missense_Mutation_p.G56V NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 61 Ig-like C2-type 1. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TTCGGGCTTGCCACTGGCCTC 0.597000 5 57 0.217242 0.220139 1 1 0 POLA2 23649 broad.mit.edu 37 11 65063373 65063373 + Missense_Mutation SNP T T C TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr11:65063373T>C ENST00000265465.3 + 17 2090 c.1559T>C c.(1558-1560)aTt>aCt p.I520T POLA2_ENST00000534785.1_Intron|POLA2_ENST00000541089.1_Missense_Mutation_p.I312T NM_002689.2 NP_002680.2 Q14181 DPOA2_HUMAN polymerase (DNA directed), alpha 2, accessory subunit 520 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) GACATGGCCATTGACTATGAG 0.532000 10 129 0 0 1 0 0 CC2D1A 54862 broad.mit.edu 37 19 14038722 14038722 + Missense_Mutation SNP G G T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr19:14038722G>T ENST00000318003.7 + 23 2574 c.2333G>T c.(2332-2334)cGg>cTg p.R778L CC2D1A_ENST00000589606.1_Missense_Mutation_p.R778L NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 778 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) GATGGTCGCCGGCCCACAGGG 0.617000 15 139 3.27435e-08 4.40444e-08 1 1 0 ITIH6 347365 broad.mit.edu 37 X 54785265 54785265 + Silent SNP G G T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chrX:54785265G>T ENST00000218436.6 - 8 1271 c.1242C>A c.(1240-1242)gtC>gtA p.V414V NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 414 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity GCGCCTGACGGACATTGGAGA 0.617000 4 36 0.000602214 0.000673063 1 1 0 EDIL3 10085 broad.mit.edu 37 5 83549983 83549983 + Missense_Mutation SNP G G T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr5:83549983G>T ENST00000296591.5 - 2 533 c.115C>A c.(115-117)Cca>Aca p.P39T EDIL3_ENST00000380138.3_Missense_Mutation_p.P39T NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 39 EGF-like 1. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) GCCAATCCTGGCAAACAGATA 0.398000 4 37 0.150653 0.154725 1 1 0 MAX 4149 broad.mit.edu 37 14 65544712 65544712 + Nonsense_Mutation SNP G G A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr14:65544712G>A ENST00000284165.6 - 4 362 c.214C>T c.(214-216)Cag>Tag p.Q72* MAX_ENST00000358402.4_Nonsense_Mutation_p.Q63*|MAX_ENST00000358664.4_Nonsense_Mutation_p.Q72*|MAX_ENST00000341653.2_Intron|MAX_ENST00000557746.1_Nonsense_Mutation_p.Q63*|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000556979.1_Nonsense_Mutation_p.Q72*|MAX_ENST00000556443.1_Nonsense_Mutation_p.Q63*|MAX_ENST00000555932.1_Intron|MAX_ENST00000555667.1_Nonsense_Mutation_p.Q63*|MAX_ENST00000555419.1_Nonsense_Mutation_p.Q36* NM_145113.1 NP_660088.1 P61244 MAX_HUMAN MYC associated factor X 72 Helix-loop-helix motif. transcription from RNA polymerase II promoter cytoplasm|MLL1 complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 17 all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999) CGCATATACTGGATATATTCT 0.493000 7 34 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152329055 152329055 + Missense_Mutation SNP G G T rs145274102 TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr1:152329055G>T ENST00000388718.5 - 3 1279 c.1207C>A c.(1207-1209)Cgc>Agc p.R403S FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 403 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTTGAAAAGCGGCCACAGGAA 0.428000 5 111 1.23904e-05 1.56945e-05 1 1 0 LOC100130331 100130331 broad.mit.edu 37 1 238090615 238090615 + RNA SNP T T C rs2790341 byFrequency TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr1:238090615T>C ENST00000450451.1 + 0 2121 NR_027247.2 TCAGGGTCACTCACACGGTGC 0.622000 3 29 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113326771 113326771 + Missense_Mutation SNP G G C TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr8:113326771G>C ENST00000297405.5 - 48 7680 c.7436C>G c.(7435-7437)cCa>cGa p.P2479R CSMD3_ENST00000352409.3_Missense_Mutation_p.P2409R|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2439R|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2375R NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2479 CUB 14. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TTGAAGATTTGGGTAACTGTC 0.378000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 9 49 0 0 1 0 0 NFIC 4782 broad.mit.edu 37 19 3449068 3449068 + Missense_Mutation SNP T T C TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr19:3449068T>C ENST00000589123.1 + 7 1108 c.988T>C c.(988-990)Tcc>Ccc p.S330P NFIC_ENST00000341919.3_Missense_Mutation_p.S339P|NFIC_ENST00000586919.1_Missense_Mutation_p.S306P|NFIC_ENST00000395111.3_Missense_Mutation_p.S330P|NFIC_ENST00000346156.5_Missense_Mutation_p.S306P|NFIC_ENST00000443272.2_Missense_Mutation_p.S339P|NFIC_ENST00000590282.1_Missense_Mutation_p.S339P NM_001245005.1|NM_205843.2 NP_001231934.1|NP_995315.1 P08651 NFIC_HUMAN nuclear factor I/C (CCAAT-binding transcription factor) 339 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) CAACAGCCCGTCCCCCCAGGA 0.667000 5 24 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140255260 140255260 + Missense_Mutation SNP C C A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr5:140255260C>A ENST00000398631.2 + 1 203 c.203C>A c.(202-204)tCc>tAc p.S68Y PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_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) CGGGTGGCGTCCAAAAGACAC 0.627000 22 119 3.10358e-05 3.86676e-05 1 1 0 TBX5 6910 broad.mit.edu 37 12 114793760 114793760 + Nonsense_Mutation SNP G G T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr12:114793760G>T ENST00000310346.4 - 9 1800 c.1134C>A c.(1132-1134)tgC>tgA p.C378* TBX5_ENST00000349716.5_Nonsense_Mutation_p.C328*|TBX5_ENST00000405440.2_Nonsense_Mutation_p.C378* NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 378 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) TGGCATACATGCAAGCTTGCC 0.607000 9 59 0.000274275 0.000315832 1 1 0 USH2A 7399 broad.mit.edu 37 1 216262362 216262362 + Silent SNP T T A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr1:216262362T>A ENST00000366943.2 - 23 5264 c.4878A>T c.(4876-4878)atA>atT p.I1626I USH2A_ENST00000307340.3_Silent_p.I1626I O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1626 Laminin G-like 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TACCTGTATATATCCCATCCA 0.343000 HNSCC(13;0.011) 14 100 0 0 1 0 0 DAGLA 747 broad.mit.edu 37 11 61504754 61504754 + Missense_Mutation SNP C C A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr11:61504754C>A ENST00000257215.5 + 14 1588 c.1472C>A c.(1471-1473)aCc>aAc p.T491N NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 491 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) CAGTATCCGACCCTCAAGTGC 0.652000 26 183 1.77063e-15 2.66471e-15 1 1 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 4 61 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31769253 31769253 + Silent SNP G G A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr19:31769253G>A ENST00000240587.4 - 2 1773 c.1446C>T c.(1444-1446)gaC>gaT p.D482D NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 482 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D299D(1)|p.D482D(1) breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TAGGTTTCTCGTCAGTGACCG 0.478000 31 207 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52526862 52526862 + Missense_Mutation SNP C C A rs139166058 byFrequency TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr14:52526862C>A ENST00000216286.5 - 3 746 c.747G>T c.(745-747)caG>caT p.Q249H NID2_ENST00000541773.1_Missense_Mutation_p.Q196H NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 249 NIDO. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) TTTTCACAGACTGTTCAGTGC 0.448000 7 18 1 1 1 1 0 SLC20A2 6575 broad.mit.edu 37 8 42275467 42275467 + Missense_Mutation SNP C C T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr8:42275467C>T ENST00000342228.3 - 11 2182 c.1813G>A c.(1813-1815)Gtg>Atg p.V605M SLC20A2_ENST00000520262.1_Missense_Mutation_p.V605M|SLC20A2_ENST00000520179.1_Missense_Mutation_p.V605M NM_006749.4 NP_006740.1 Q08357 S20A2_HUMAN solute carrier family 20 (phosphate transporter), member 2 605 interspecies interaction between organisms integral to plasma membrane|membrane fraction inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1) 26 all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869) ATCCAGCCCACGGCCACCACC 0.582000 7 41 0 0 1 0 0 CTSO 1519 broad.mit.edu 37 4 156847223 156847223 + Splice_Site SNP C C A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr4:156847223C>A ENST00000433477.3 - 8 1001 c.e8-1 NM_001334.2 NP_001325.1 P43234 CATO_HUMAN cathepsin O proteolysis lysosome cysteine-type endopeptidase activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1) 16 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148) TCTGCAATACCTAAGGGAAAA 0.313000 6 20 0.217242 0.220139 1 1 0 FLNC 2318 broad.mit.edu 37 7 128491575 128491575 + Missense_Mutation SNP G G T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr7:128491575G>T ENST00000325888.8 + 35 5996 c.5735G>T c.(5734-5736)gGc>gTc p.G1912V RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.G1879V NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1912 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 AACAAGGATGGCACCTGCACC 0.602000 12 58 5.50884e-06 7.15678e-06 1 1 0 IGKV3-7 28915 broad.mit.edu 37 2 89278276 89278276 + RNA SNP C C G TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr2:89278276C>G ENST00000390247.2 - 0 155 TACAATTTCTCTGGTGGTATC 0.448000 8 79 0 0 1 0 0 CYP7A1 1581 broad.mit.edu 37 8 59405017 59405017 + Silent SNP G G A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr8:59405017G>A ENST00000301645.3 - 5 1247 c.1110C>T c.(1108-1110)ttC>ttT p.F370F NM_000780.3 NP_000771.2 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, polypeptide 1 370 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1) 34 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) GGTGCAAAGTGAAATCCTCCT 0.408000 Neonatal Giant Cell Hepatitis 7 77 0 0 1 0 0 MMEL1 79258 broad.mit.edu 37 1 2541155 2541155 + Silent SNP G G A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr1:2541155G>A ENST00000288709.6 - 5 621 c.381C>T c.(379-381)taC>taT p.Y127Y MMEL1_ENST00000502556.1_Silent_p.Y136Y|MMEL1_ENST00000378412.3_Silent_p.Y136Y NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 136 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) CAAAGATGCTGTATCTTGAGT 0.617000 9 47 0 0 1 0 0 UBP1 7342 broad.mit.edu 37 3 33442469 33442469 + Silent SNP T T C TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr3:33442469T>C ENST00000283629.3 - 10 1600 c.1071A>G c.(1069-1071)tcA>tcG p.S357S UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000283628.5_Silent_p.S357S|UBP1_ENST00000447368.2_Silent_p.S321S NM_001128161.1|NM_014517.4 NP_001121633.1|NP_055332.3 Q9NZI7 UBIP1_HUMAN upstream binding protein 1 (LBP-1a) 357 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2) 23 CAGAGGTCTGTGAAGCTCCAT 0.353000 11 43 0 0 1 0 0 CLK2 1196 broad.mit.edu 37 1 155239391 155239391 + Missense_Mutation SNP C C A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr1:155239391C>A ENST00000368361.4 - 3 602 c.287G>T c.(286-288)cGg>cTg p.R96L CLK2_ENST00000361168.5_Missense_Mutation_p.R96L|CLK2_ENST00000536801.1_Missense_Mutation_p.R96L|CLK2_ENST00000355560.4_Missense_Mutation_p.R95L P49760 CLK2_HUMAN CDC-like kinase 2 96 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 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) ATAGGAATGCCGATAGTCTGT 0.587000 Other conserved DNA damage response genes 20 118 1.64113e-05 2.06159e-05 1 1 0 RFWD3 55159 broad.mit.edu 37 16 74660379 74660379 + Silent SNP G G A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr16:74660379G>A ENST00000361070.4 - 12 2140 c.2043C>T c.(2041-2043)atC>atT p.I681I RFWD3_ENST00000571750.1_Silent_p.I681I NM_018124.3 NP_060594.3 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 681 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 26 GGCAGGAGCAGATTGGATTTC 0.443000 15 64 0 0 1 0 0 SLC38A11 151258 broad.mit.edu 37 2 165768148 165768148 + Nonsense_Mutation SNP C C A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr2:165768148C>A ENST00000303735.4 - 8 1057 c.727G>T c.(727-729)Gag>Tag p.E243* SLC38A11_ENST00000409662.1_Nonsense_Mutation_p.E265*|SLC38A11_ENST00000409058.1_Nonsense_Mutation_p.E296*|SLC38A11_ENST00000409149.3_Nonsense_Mutation_p.E265* NM_173512.2 NP_775783.1 Q08AI6 S38AB_HUMAN solute carrier family 38, member 11 265 amino acid transport|sodium ion transport integral to membrane endometrium(2)|large_intestine(4)|lung(8)|ovary(1) 15 GCGCTTACCTCTCTTGTCACA 0.388000 6 28 1 1 1 1 0 ZEB2 9839 broad.mit.edu 37 2 145155885 145155885 + Silent SNP G G T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr2:145155885G>T ENST00000558170.2 - 8 4053 c.2869C>A c.(2869-2871)Cgg>Agg p.R957R ZEB2_ENST00000409487.3_Silent_p.R957R|ZEB2_ENST00000539609.3_Silent_p.R933R|ZEB2_ENST00000303660.4_Silent_p.R957R NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 957 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding p.R957W(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) CCTTGTTTCCGCTGGTACTTT 0.408000 11 67 6.40141e-05 7.72234e-05 1 1 0 DCHS2 54798 broad.mit.edu 37 4 155250781 155250781 + Missense_Mutation SNP G G T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr4:155250781G>T ENST00000357232.3 - 11 2446 c.2447C>A c.(2446-2448)tCc>tAc p.S816Y DCHS2_ENST00000339452.1_Missense_Mutation_p.S1271Y NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 816 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TCGTGGTGGGGAGCCGCGGTC 0.547000 6 49 0.0381472 0.0405481 1 1 0 OR7A5 26659 broad.mit.edu 37 19 14938325 14938325 + Silent SNP A A C TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr19:14938325A>C ENST00000322301.3 - 2 816 c.729T>G c.(727-729)tcT>tcG p.S243S OR7A5_ENST00000594432.1_Silent_p.S243S|OR7A5_ENST00000601611.1_Intron Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, member 5 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 CTGAGAGGTGAGATGCACAGG 0.468000 5 73 0 0 1 0 0 CROT 54677 broad.mit.edu 37 7 87022301 87022301 + Missense_Mutation SNP G G T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr7:87022301G>T ENST00000331536.3 + 17 1821 c.1636G>T c.(1636-1638)Gtt>Ttt p.V546F CROT_ENST00000442291.1_Missense_Mutation_p.V546F|CROT_ENST00000419147.2_Missense_Mutation_p.V574F NM_021151.3 NP_066974.2 Q9UKG9 OCTC_HUMAN carnitine O-octanoyltransferase 546 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) AACAAGTCTGGTTGGCTATTT 0.403000 20 123 1.33834e-09 1.8663e-09 1 1 0 UBR4 23352 broad.mit.edu 37 1 19440472 19440472 + Nonsense_Mutation SNP G G T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr1:19440472G>T ENST00000375267.2 - 76 11298 c.11295C>A c.(11293-11295)tgC>tgA p.C3765* UBR4_ENST00000375218.3_Nonsense_Mutation_p.C180*|UBR4_ENST00000375254.3_Nonsense_Mutation_p.C3765*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.C3758*|UBR4_ENST00000375226.2_Nonsense_Mutation_p.C3741* Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 3765 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) CATTCACTTTGCAGAGCAGGT 0.512000 OREG0013168 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 129 9.57634e-11 1.34778e-10 1 1 0 OR5L2 26338 broad.mit.edu 37 11 55595409 55595409 + Missense_Mutation SNP T T A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr11:55595409T>A ENST00000378397.1 + 1 715 c.715T>A c.(715-717)Tcc>Acc p.S239T NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) CAAAGCTTTCTCCACCTGTGC 0.483000 HNSCC(27;0.073) 16 93 0 0 1 0 0 SLC5A1 6523 broad.mit.edu 37 22 32477942 32477942 + Silent SNP C C A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr22:32477942C>A ENST00000266088.4 + 6 817 c.567C>A c.(565-567)gcC>gcA p.A189A SLC5A1_ENST00000543737.1_Silent_p.A62A NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 189 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 CAATCACTGCCCTTTACACAA 0.473000 7 56 8.12818e-05 9.5774e-05 1 1 0 SLC24A3 57419 broad.mit.edu 37 20 19664974 19664974 + Silent SNP C C T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr20:19664974C>T ENST00000328041.6 + 11 1253 c.1056C>T c.(1054-1056)atC>atT p.I352I NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 352 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GCATGTTGATCAATGAGGTAC 0.532000 4 20 0 0 1 0 0 GPR114 221188 broad.mit.edu 37 16 57601917 57601917 + Missense_Mutation SNP C C T rs143764238 TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr16:57601917C>T ENST00000340339.4 + 9 1494 c.971C>T c.(970-972)gCg>gTg p.A324V GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.A324V NM_153837.1 NP_722579.1 Q8IZF4 GP114_HUMAN G protein-coupled receptor 114 324 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1) 23 CTGCACTACGCGCTGCTCAGC 0.607000 5 29 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 6 24 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49204780 49204780 + Missense_Mutation SNP G G A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr11:49204780G>A ENST00000340334.7 - 8 1164 c.796C>T c.(796-798)Cgt>Tgt p.R266C FOLH1_ENST00000356696.3_Missense_Mutation_p.R281C|FOLH1_ENST00000533034.1_Missense_Mutation_p.R266C|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000256999.2_Missense_Mutation_p.R281C NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 281 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity p.R281C(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) GCAATTCCACGCCTATAAGCA 0.343000 6 33 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35425721 35425721 + Missense_Mutation SNP G G C TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr8:35425721G>C ENST00000287272.2 + 3 448 c.428G>C c.(427-429)gGt>gCt p.G143A UNC5D_ENST00000453357.2_Missense_Mutation_p.G138A|UNC5D_ENST00000404895.2_Missense_Mutation_p.G143A|UNC5D_ENST00000420357.1_Missense_Mutation_p.G143A|UNC5D_ENST00000416672.1_Missense_Mutation_p.G143A Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 143 Ig-like. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) AGCCACCTGGGTACCTCCAAG 0.522000 21 70 0 0 1 0 0 PPRC1 23082 broad.mit.edu 37 10 103901076 103901076 + Silent SNP G G C TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr10:103901076G>C ENST00000278070.2 + 5 2850 c.2811G>C c.(2809-2811)ctG>ctC p.L937L PPRC1_ENST00000413464.2_Silent_p.L937L NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 937 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) ATCCTTGCCTGCCCCCCCCAC 0.602000 4 33 0 0 1 0 0 CCDC9 26093 broad.mit.edu 37 19 47761660 47761660 + Splice_Site SNP G G A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr19:47761660G>A ENST00000221922.6 + 2 225 c.3_splice c.e2+1 p.M1_splice NM_015603.2 NP_056418.1 Q9Y3X0 CCDC9_HUMAN coiled-coil domain containing 9 1 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 12 all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114) OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183) CCAGCGAAATGGTGAGGCTGA 0.557000 4 46 0 0 1 0 0 BACH2 60468 broad.mit.edu 37 6 90660323 90660323 + Missense_Mutation SNP G G A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr6:90660323G>A ENST00000257749.4 - 7 2209 c.1502C>T c.(1501-1503)cCg>cTg p.P501L RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.P501L|BACH2_ENST00000343122.3_Missense_Mutation_p.P501L NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 501 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) GATTGGTACCGGGCAGCTGGT 0.662000 14 45 0 0 1 0 0 MINK1 50488 broad.mit.edu 37 17 4789857 4789857 + Silent SNP G G A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr17:4789857G>A ENST00000355280.6 + 10 1081 c.885G>A c.(883-885)gaG>gaA p.E295E MINK1_ENST00000453408.3_Silent_p.E295E|MINK1_ENST00000347992.7_Silent_p.E295E NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 295 JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 AGCCCACGGAGCGGCAGGTCC 0.587000 12 63 0 0 1 0 0 SGK2 10110 broad.mit.edu 37 20 42195004 42195004 + Missense_Mutation SNP T T A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr20:42195004T>A ENST00000341458.4 + 1 268 c.49T>A c.(49-51)Tgc>Agc p.C17S SGK2_ENST00000373077.1_Intron|SGK2_ENST00000373092.3_Intron|SGK2_ENST00000373100.1_Intron|SGK2_ENST00000426287.1_Missense_Mutation_p.C17S|SGK2_ENST00000423407.3_Intron NM_016276.3 NP_057360.2 Q9HBY8 SGK2_HUMAN serum/glucocorticoid regulated kinase 2 17 intracellular protein kinase cascade|response to oxidative stress ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CGGTGGCAGGTGCACAGGTAG 0.582000 5 77 0 0 1 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 6 41 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100675990 100675990 + Silent SNP C C T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr7:100675990C>T ENST00000306151.4 + 3 1357 c.1293C>T c.(1291-1293)agC>agT p.S431S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 431 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) GTGAAGCCAGCTCATCTCCCA 0.493000 50 320 0 0 1 0 0 PHRF1 57661 broad.mit.edu 37 11 605711 605711 + Missense_Mutation SNP G G T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr11:605711G>T ENST00000264555.5 + 12 1569 c.1441G>T c.(1441-1443)Gtg>Ttg p.V481L PHRF1_ENST00000416188.2_Missense_Mutation_p.V480L|PHRF1_ENST00000413872.2_Missense_Mutation_p.V479L|PHRF1_ENST00000533464.1_Missense_Mutation_p.V477L NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 481 RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 GCCCGTCTCCGTGGGGCTTTC 0.652000 5 33 0.014758 0.0159093 1 1 0 PPARGC1A 10891 broad.mit.edu 37 4 23797458 23797458 + Missense_Mutation SNP C C A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr4:23797458C>A ENST00000264867.2 - 13 2503 c.2384G>T c.(2383-2385)aGc>aTc p.S795I PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 795 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) CCTGCGCAAGCTTCTCTGAGC 0.448000 10 55 6.40141e-05 7.72234e-05 1 1 0 CDK18 5129 broad.mit.edu 37 1 205495937 205495937 + Missense_Mutation SNP G G T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr1:205495937G>T ENST00000360066.2 + 8 1002 c.701G>T c.(700-702)gGg>gTg p.G234V CDK18_ENST00000429964.2_Missense_Mutation_p.G234V|CDK18_ENST00000506784.1_Missense_Mutation_p.G264V|CDK18_ENST00000509056.1_3'UTR NM_002596.3|NM_212502.2|NM_212503.2 NP_002587.2|NP_997667.1|NP_997668.1 Q07002 CDK18_HUMAN cyclin-dependent kinase 18 232 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 GACCACTGTGGGAACCTCATG 0.627000 19 90 1.2644e-06 1.67121e-06 1 1 0 KIAA0556 23247 broad.mit.edu 37 16 27751673 27751673 + Silent SNP T T A rs148704304 byFrequency TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr16:27751673T>A ENST00000261588.4 + 15 2074 c.2055T>A c.(2053-2055)acT>acA p.T685T NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 685 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 AGAATTCTACTAATTGCAGGA 0.488000 12 109 0 0 1 0 0 TMEM119 338773 broad.mit.edu 37 12 108985527 108985527 + Silent SNP G G T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr12:108985527G>T ENST00000392806.3 - 2 801 c.633C>A c.(631-633)ggC>ggA p.G211G NM_181724.2 NP_859075.2 Q4V9L6 TM119_HUMAN transmembrane protein 119 211 integral to membrane large_intestine(2)|lung(3)|ovary(1)|skin(1) 7 CCTCCTGGCTGCCCTTCTCCT 0.692000 9 41 5.4927e-09 7.52154e-09 1 1 0 CDH7 1005 broad.mit.edu 37 18 63547762 63547762 + Nonsense_Mutation SNP G G T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr18:63547762G>T ENST00000397968.2 + 12 2416 c.1990G>T c.(1990-1992)Gaa>Taa p.E664* CDH7_ENST00000323011.3_Nonsense_Mutation_p.E664* NM_004361.2 NP_004352.2 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 664 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) GGAGGACACGGAAGCGTTTGA 0.498000 16 45 2.48551e-13 3.63266e-13 1 1 0 PCDHA6 56142 broad.mit.edu 37 5 140208077 140208077 + Missense_Mutation SNP C C A rs139629080 TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr5:140208077C>A ENST00000529310.1 + 1 515 c.401C>A c.(400-402)cCg>cAg p.P134Q PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.P134Q|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCTTGTTCCCGGTAGAGGAA 0.547000 7 131 8.12818e-05 9.5774e-05 1 1 0 MCM2 4171 broad.mit.edu 37 3 127325633 127325633 + Silent SNP C C T rs143514266 byFrequency TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr3:127325633C>T ENST00000265056.7 + 6 1318 c.1074C>T c.(1072-1074)gcC>gcT p.A358A NM_004526.2 NP_004517.2 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 358 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 GCCAGTCGGCCGGCCCCTTTG 0.577000 6 64 0 0 1 0 0 OR2T33 391195 broad.mit.edu 37 1 248437045 248437045 + Silent SNP G G T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr1:248437045G>T ENST00000318021.2 - 1 93 c.72C>A c.(70-72)gtC>gtA p.V24V NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|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;0.0245) TCATGAAGAGGACTTGGTGGG 0.483000 25 75 2.48779e-11 3.5674e-11 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141243003 141243003 + Missense_Mutation SNP C C G TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr2:141243003C>G ENST00000389484.3 - 59 10305 c.9334G>C c.(9334-9336)Gaa>Caa p.E3112Q NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3112 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) TTGGATACTTCAATGATTCTT 0.408000 TSP Lung(27;0.18) 6 44 0 0 1 0 0 HOXD10 3236 broad.mit.edu 37 2 176983781 176983782 + Frame_Shift_Del DEL AA AA - TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr2:176983781_176983782delAA ENST00000249501.4 + 2 1100_1101 c.845_846delAA c.(844-846)gfs p.E282fs HOXD10_ENST00000490088.2_3'UTR NM_002148.3 NP_002139.2 P28358 HXD10_HUMAN homeobox D10 282 nucleus sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) CTGGAATTAGAAAAAGAGTTCT 0.470 9 85 --- --- --- --- GPR98 84059 broad.mit.edu 37 5 90159639 90159639 + Frame_Shift_Del DEL C C - TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr5:90159639delC ENST00000405460.2 + 83 17917 c.17821delC c.(17821-17823)tgfs p.L5941fs GPR98_ENST00000425867.2_Frame_Shift_Del_p.L1602fs NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5941 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGCTAAACTTCTGACTCACAT 0.423 23 103 --- --- --- --- PCDHB11 56125 broad.mit.edu 37 5 140581672 140581672 + Frame_Shift_Del DEL G G - TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr5:140581672delG ENST00000354757.3 + 1 2325 c.2325delG c.(2323-2325)cafs p.Q775fs PCDHB11_ENST00000536699.1_Frame_Shift_Del_p.Q410fs NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 775 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTAATATCCAGGCAAAAGGTC 0.413 7 54 --- --- --- --- RP11-428C19.4 0 broad.mit.edu 37 11 19296062 19296063 + RNA INS - - A rs34104745 TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr11:19296062_19296063insA ENST00000527978.1 + 0 339 gactctgtttcaaaaaaaaaaa 0.480 3 6 --- --- --- --- OR4S2 219431 broad.mit.edu 37 11 55418468 55418468 + Frame_Shift_Del DEL C C - TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr11:55418468delC ENST00000312422.2 + 1 89 c.89delC c.(88-90)ttfs p.S30fs NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) GTGGTGTTTTCTTTCTTCTAC 0.388 7 87 --- --- --- --- HERC2P2 400322 broad.mit.edu 37 15 23312379 23312379 + RNA DEL C C - TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr15:23312379delC ENST00000560464.1 - 0 3118 TTGTTAttttctttttttttt 0.398 4 7 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 8 243 --- --- --- --- CMTR2 55783 broad.mit.edu 37 16 71318334 71318334 + Frame_Shift_Del DEL A A - TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr16:71318334delA ENST00000338099.5 - 3 1826 c.1490delT c.(1489-1491)tgfs p.L497fs FTSJD1_ENST00000434935.2_Frame_Shift_Del_p.L497fs Q8IYT2 FTSJ1_HUMAN 497 integral to membrane methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CTTTCCCTCCAAAATATGCCA 0.363 16 50 --- --- --- --- SLC35G3 146861 broad.mit.edu 37 17 33521207 33521207 + Frame_Shift_Del DEL C C - TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr17:33521207delC ENST00000297307.5 - 1 205 c.120delG c.(118-120)ctfs p.L41fs NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 41 integral to membrane GGGCCACCAGCAGGCCACTGG 0.667 9 68 --- --- --- --- AC007204.2 0 broad.mit.edu 37 19 20067365 20067367 + RNA DEL AGG AGG - TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7af4b457-894f-481c-bdbd-6193a4768598 97c2e58b-97a4-406a-8c0e-25f468156922 g.chr19:20067365_20067367delAGG ENST00000592245.1 + 0 72 AAGCTGGGCAAGGAGAACTCGGG 0.621 3 5 --- --- --- ---