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 TBC1D9 23158 broad.mit.edu 37 4 141543453 141543453 + Missense_Mutation SNP G G T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr4:141543453G>T ENST00000442267.2 - 21 3771 c.3697C>A c.(3697-3699)Ccc>Acc p.P1233T NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 1233 intracellular calcium ion binding|Rab GTPase activator activity p.P1233T(2) endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) ATGCACACGGGCTTGTCAAAG 0.592000 9 53 0.00448238 0.00510783 0.047766 1 0 SLC4A3 6508 broad.mit.edu 37 2 220502444 220502444 + Missense_Mutation SNP G G A TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr2:220502444G>A ENST00000358055.3 + 17 3189 c.2677G>A c.(2677-2679)Gca>Aca p.A893T SLC4A3_ENST00000273063.6_Missense_Mutation_p.A920T|SLC4A3_ENST00000373760.2_Missense_Mutation_p.A893T|SLC4A3_ENST00000373762.3_Missense_Mutation_p.A920T|SLC4A3_ENST00000317151.3_Missense_Mutation_p.A893T P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 893 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity p.A920T(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCCCAATACGGCACTGCTCTC 0.657000 3 56 0 0 0.150653 0 0 OC90 729330 broad.mit.edu 37 8 133053386 133053386 + Missense_Mutation SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr8:133053386C>T ENST00000262283.5 - 9 1049 c.950G>A c.(949-951)cGc>cAc p.R317H OC90_ENST00000603859.1_Missense_Mutation_p.R121H|OC90_ENST00000443356.2_Missense_Mutation_p.R121H|OC90_ENST00000254627.3_Missense_Mutation_p.R121H Q02509 OC90_HUMAN otoconin 90 121 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity p.R317H(1)|p.R127H(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) ATAGCACCTGCGGTGCTGGAA 0.557000 5 94 0 0 0.021553 0 0 LRIG3 121227 broad.mit.edu 37 12 59282122 59282122 + Missense_Mutation SNP C C G TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr12:59282122C>G ENST00000320743.3 - 7 1222 c.936G>C c.(934-936)aaG>aaC p.K312N LRIG3_ENST00000379141.4_Missense_Mutation_p.K252N NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 312 integral to membrane p.K312N(2) LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) GCTCACTGAGCTTCTGGCAGA 0.493000 T ROS1 NSCLC 8 77 0 0 0.038147 0 0 RXFP1 59350 broad.mit.edu 37 4 159567948 159567948 + Missense_Mutation SNP G G A TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr4:159567948G>A ENST00000307765.5 + 16 1602 c.1351G>A c.(1351-1353)Gac>Aac p.D451N RXFP1_ENST00000448688.2_Missense_Mutation_p.D346N|RXFP1_ENST00000343542.5_Missense_Mutation_p.D403N|RXFP1_ENST00000460056.2_Missense_Mutation_p.D370N|RXFP1_ENST00000470033.1_Missense_Mutation_p.D418N NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 451 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding p.D451N(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) TCTAGGTGCCGACTGCTTAAT 0.348000 9 85 0 0 0.058154 0 0 TIE1 7075 broad.mit.edu 37 1 43783609 43783609 + Missense_Mutation SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr1:43783609C>T ENST00000372476.3 + 17 2867 c.2788C>T c.(2788-2790)Cgg>Tgg p.R930W TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.R575W NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 930 Protein kinase. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.R930W(2) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) AGATTTTCTGCGGAAAAGCCG 0.527000 28 298 0 0 0.134883 0 0 ADAM28 10863 broad.mit.edu 37 8 24199261 24199261 + Silent SNP C C T rs149263503 byFrequency TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr8:24199261C>T ENST00000265769.4 + 16 1931 c.1821C>T c.(1819-1821)ggC>ggT p.G607G RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Silent_p.G354G|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 607 Cys-rich. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding p.G607G(2) central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) CTAAGTGTGGCGATAACAAGG 0.408000 5 89 0 0 0.184627 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72036214 72036214 + Splice_Site SNP A A C TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr12:72036214A>C ENST00000378743.3 - 6 1986 c.e6+1 NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing RNA processing intracellular metal ion binding p.?(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TTTGGCTCATACCTGGAGAAC 0.343000 7 68 0 0 0.029380 0 0 NTM 50863 broad.mit.edu 37 11 132081914 132081914 + Splice_Site SNP A A C TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr11:132081914A>C ENST00000374786.1 + 3 879 c.e3-1 NTM_ENST00000374791.3_Splice_Site|NTM_ENST00000374784.1_Splice_Site|NTM_ENST00000427481.2_Splice_Site|NTM_ENST00000474900.1_Splice_Site|NTM_ENST00000539799.1_Splice_Site|NTM_ENST00000425719.2_Splice_Site NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin cell adhesion|neuron recognition anchored to membrane|plasma membrane p.?(2) breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 TTGTTTCCACAGTATCTCCCA 0.383000 4 35 0 0 0.150653 0 0 TTLL5 23093 broad.mit.edu 37 14 76224211 76224211 + Splice_Site SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr14:76224211C>T ENST00000556893.1 + 4 272 c.203_splice c.e4+1 p.R68_splice TTLL5_ENST00000554510.1_Splice_Site_p.R26_splice|TTLL5_ENST00000557636.1_Intron|TTLL5_ENST00000298832.9_Intron|TTLL5_ENST00000555422.1_Intron Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 517 TTL. protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) AGGAAGAACACGGTAATTGAC 0.383000 3 53 0 0 0.115264 0 0 TTC30A 92104 broad.mit.edu 37 2 178483090 178483090 + Missense_Mutation SNP G G A TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr2:178483090G>A ENST00000355689.4 - 1 604 c.340C>T c.(340-342)Cgg>Tgg p.R114W AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A 114 cell projection organization cilium binding p.R114W(1) autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) CGGAGGACCCGGCTGTGGTAG 0.642000 10 71 0 0 0.058154 0 0 DNAH17 8632 broad.mit.edu 37 17 76459153 76459153 + Missense_Mutation SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr17:76459153C>T ENST00000389840.5 - 57 9029 c.8905G>A c.(8905-8907)Gtc>Atc p.V2969I DNAH17_ENST00000585328.1_Missense_Mutation_p.V2978I|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 p.V2978I(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GAGGCCTTGACTTCCCACTAC 0.562000 3 27 0 0 0.150653 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19511256 19511256 + Missense_Mutation SNP A A G TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr12:19511256A>G ENST00000538714.1 + 23 2913 c.2909A>G c.(2908-2910)cAt>cGt p.H970R PLEKHA5_ENST00000355397.3_Missense_Mutation_p.H970R|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.H1078R|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.H901R|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.H894R|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.H856R|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.H912R|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.H670R|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.H975R NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 912 P -> S (in Ref. 6; BAA91742). 1-phosphatidylinositol binding|protein binding p.H912R(2)|p.H1073R(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) ATAAGAAGACATCAACAAGCG 0.433000 4 36 0 0 0.150653 0 0 ABCF3 55324 broad.mit.edu 37 3 183908945 183908945 + Missense_Mutation SNP A A C rs140615216 TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr3:183908945A>C ENST00000429586.2 + 16 1656 c.1471A>C c.(1471-1473)Att>Ctt p.I491L ABCF3_ENST00000292808.5_Missense_Mutation_p.I485L|EIF2B5_ENST00000444495.1_Intron NM_018358.2 NP_060828.2 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), member 3 491 ATP binding|ATPase activity p.I491L(1) breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1) 39 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CTCGCCGCCAATTCTGCAGCT 0.557000 8 119 0 0 0.047766 0 0 USH1G 124590 broad.mit.edu 37 17 72915904 72915904 + Missense_Mutation SNP G G A TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr17:72915904G>A ENST00000319642.1 - 2 1209 c.1027C>T c.(1027-1029)Cgg>Tgg p.R343W NM_173477.2 NP_775748.2 Q495M9 USH1G_HUMAN Usher syndrome 1G (autosomal recessive) 343 equilibrioception|photoreceptor cell maintenance|sensory perception of sound actin cytoskeleton p.R343W(1) HN1/USH1G(2) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3) 14 all_lung(278;0.172)|Lung NSC(278;0.207) AGCCGACCCCGCGGCGCTCCC 0.687000 4 84 0 0 0.184627 0 0 ZNF678 339500 broad.mit.edu 37 1 227842075 227842075 + Nonsense_Mutation SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr1:227842075C>T ENST00000343776.4 + 4 469 c.124C>T c.(124-126)Cag>Tag p.Q42* ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Nonsense_Mutation_p.Q97* F5GXA7 F5GXA7_HUMAN zinc finger protein 678 97 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.Q42*(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) TTTGCCAGAGCAGGATATGAA 0.333000 11 134 0 0 0.105934 0 0 GART 2618 broad.mit.edu 37 21 34903824 34903824 + Nonsense_Mutation SNP C C A TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr21:34903824C>A ENST00000381831.3 - 6 831 c.568G>T c.(568-570)Gaa>Taa p.E190* GART_ENST00000381815.4_Nonsense_Mutation_p.E190*|GART_ENST00000497313.1_5'UTR|GART_ENST00000361093.5_Nonsense_Mutation_p.E190*|GART_ENST00000381839.3_Nonsense_Mutation_p.E190* NM_001136005.1 NP_001129477.1 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 190 ATP-grasp. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding p.E190*(1) NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) AGAAGTTCTTCAATGACAATT 0.353000 16 168 5.01169e-05 5.84698e-05 0.160694 1 0 PLA2G4F 255189 broad.mit.edu 37 15 42446634 42446634 + Silent SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr15:42446634C>T ENST00000397272.3 - 3 298 c.207G>A c.(205-207)gtG>gtA p.V69V PLA2G4F_ENST00000382396.4_Silent_p.V69V NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 69 C2. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity p.V69V(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) GCCACAGTTGCACATAGCAGT 0.597000 5 32 0 0 0.184627 0 0 CEP85L 387119 broad.mit.edu 37 6 118790443 118790443 + Silent SNP T T G TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr6:118790443T>G ENST00000368491.3 - 12 2667 c.2046A>C c.(2044-2046)acA>acC p.T682T CEP85L_ENST00000368488.5_Silent_p.T685T NM_001042475.2 NP_001035940.1 Q5SZL2 CF204_HUMAN centrosomal protein 85kDa-like 682 centrosome p.T682T(1) ATAAAGAGCATGTCTCATCTG 0.413000 10 123 0 0 0.080935 0 0 SNRNP27 11017 broad.mit.edu 37 2 70130361 70130361 + Nonsense_Mutation SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr2:70130361C>T ENST00000244227.3 + 5 822 c.397C>T c.(397-399)Cag>Tag p.Q133* SNRNP27_ENST00000409116.1_Intron|SNRNP27_ENST00000488986.1_3'UTR NM_006857.2 NP_006848.1 Q8WVK2 SNR27_HUMAN small nuclear ribonucleoprotein 27kDa (U4/U6.U5) 133 mRNA processing|RNA splicing nucleus nucleic acid binding p.Q133*(1) cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 11 AAATGTCTCTCAGAAGAGGAA 0.328000 10 117 0 0 0.080935 0 0 WT1-AS 0 broad.mit.edu 37 11 32460593 32460593 + RNA SNP T T C TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr11:32460593T>C ENST00000395900.1 + 0 1471 WT1-AS_ENST00000442957.1_RNA|WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000525436.1_RNA NR_023920.1 p.C56R(1) endometrium(1)|large_intestine(2)|lung(2)|prostate(1) 6 ACCCCGGCGCTGTCCACTGCA 0.617000 3 54 0 0 0.150653 0 0 PEG10 23089 broad.mit.edu 37 7 94293246 94293246 + Silent SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr7:94293246C>T ENST00000482108.1 + 2 857 c.378C>T c.(376-378)acC>acT p.T126T PEG10_ENST00000488574.1_Silent_p.T126T NM_001040152.1|NM_001172438.1|NM_001184962.1 NP_001035242.1|NP_001165909.1|NP_001171891.1 Q86TG7 PEG10_HUMAN paternally expressed 10 126 Necessary for interaction with ALK1. apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway cytoplasm|nucleus DNA binding|protein binding|zinc ion binding p.T126T(1) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1) 21 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) GCATGATGACCGGCCGTGCTG 0.532000 7 99 0 0 0.038147 0 0 CHD4 1108 broad.mit.edu 37 12 6686950 6686950 + Splice_Site SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr12:6686950C>T ENST00000309577.6 - 36 5609 c.e36+1 CHD4_ENST00000357008.2_Splice_Site|CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000544040.1_Splice_Site Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding p.?(3) central_nervous_system(2) 2 CAACCGCTCACCTTAAACCTT 0.463000 4 84 0 0 0.150653 0 0 ZNF134 7693 broad.mit.edu 37 19 58132430 58132430 + Missense_Mutation SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr19:58132430C>T ENST00000396161.5 + 3 1253 c.943C>T c.(943-945)Cct>Tct p.P315S NM_003435.3 NP_003426.3 P52741 ZN134_HUMAN zinc finger protein 134 315 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P315S(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1) 11 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) TGGAGAAAATCCTTATGATTG 0.418000 4 104 0 0 0.184627 0 0 HLA-F 3134 broad.mit.edu 37 6 29694720 29694720 + Missense_Mutation SNP G G A TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr6:29694720G>A ENST00000440587.2 + 6 1069 c.710G>A c.(709-711)gGg>gAg p.G237E HLA-F_ENST00000259951.7_Missense_Mutation_p.G366E|HLA-F_ENST00000475996.1_Intron P30511 HLAF_HUMAN major histocompatibility complex, class I, F 0 Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity p.G366E(1) cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 TTTCTCCTGGGGGTGCTCTTC 0.498000 11 132 0 0 0.080935 0 0 LILRA4 23547 broad.mit.edu 37 19 54849889 54849889 + Missense_Mutation SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr19:54849889C>T ENST00000291759.4 - 3 189 c.133G>A c.(133-135)Gtg>Atg p.V45M NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 45 Ig-like C2-type 1. integral to membrane receptor activity p.V45M(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) CAGATGGTCACGGGGTTATGC 0.537000 OREG0003656 type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 98 0 0 0.038147 0 0 PFKM 5213 broad.mit.edu 37 12 48533667 48533667 + Missense_Mutation SNP T T C TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr12:48533667T>C ENST00000340802.6 + 15 1600 c.1376T>C c.(1375-1377)cTa>cCa p.L459P PFKM_ENST00000547587.1_Missense_Mutation_p.L388P|PFKM_ENST00000551804.1_Missense_Mutation_p.L357P|PFKM_ENST00000312352.7_Missense_Mutation_p.L388P|PFKM_ENST00000359794.5_Missense_Mutation_p.L388P|PFKM_ENST00000395233.2_Missense_Mutation_p.L357P NM_001166686.1 NP_001160158.1 P08237 K6PF_HUMAN phosphofructokinase, muscle 388 fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis 6-phosphofructokinase complex|apical plasma membrane 6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding p.L388P(1) NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 TACAAGCTTCTAGCTCATGTC 0.512000 4 37 0 0 0.150653 0 0 CEP72 55722 broad.mit.edu 37 5 648008 648008 + Silent SNP G G A rs142569661 TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr5:648008G>A ENST00000264935.5 + 11 1845 c.1755G>A c.(1753-1755)acG>acA p.T585T CEP72_ENST00000444221.1_3'UTR NM_018140.3 NP_060610.2 Q9P209 CEP72_HUMAN centrosomal protein 72kDa 585 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol p.T585T(1) autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 20 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) AGGAGCTCACGCAGATGCTGC 0.602000 5 39 0 0 0.184627 0 0 CHD4 1108 broad.mit.edu 37 12 6696651 6696651 + Missense_Mutation SNP G G A TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr12:6696651G>A ENST00000309577.6 - 25 3941 c.3778C>T c.(3778-3780)Cgt>Tgt p.R1260C CHD4_ENST00000357008.2_Missense_Mutation_p.R1260C|CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000544484.1_Missense_Mutation_p.R1257C|CHD4_ENST00000544040.1_Missense_Mutation_p.R1253C Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1260 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding p.R1260C(3) central_nervous_system(2) 2 TCCTGGTTACGGTCTAGCAGC 0.458000 22 150 0 0 0.076483 0 0 ANO4 121601 broad.mit.edu 37 12 101488062 101488062 + Missense_Mutation SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr12:101488062C>T ENST00000392979.3 + 17 1986 c.1625C>T c.(1624-1626)aCg>aTg p.T542M ANO4_ENST00000299222.9_Missense_Mutation_p.T97M|ANO4_ENST00000392977.3_Missense_Mutation_p.T577M|ANO4_ENST00000550015.1_Missense_Mutation_p.T97M NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 577 chloride channel complex chloride channel activity p.T542M(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 CTGCTTCTGACGAATTTAGGT 0.328000 HNSCC(74;0.22) 5 55 0 0 0.184627 0 0 MSH3 4437 broad.mit.edu 37 5 79952234 79952234 + Missense_Mutation SNP C C A TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr5:79952234C>A ENST00000265081.6 + 2 322 c.242C>A c.(241-243)aCa>aAa p.T81K NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 81 Interaction with EXO1. maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding p.T81K(1)|p.T72K(1) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) ATATAGGCTACAGAAATTGAC 0.388000 Mismatch excision repair (MMR) 10 140 1.08611e-07 1.3646e-07 0.080935 1 0 ANAPC5 51433 broad.mit.edu 37 12 121746472 121746472 + Missense_Mutation SNP G G T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr12:121746472G>T ENST00000261819.3 - 17 2200 c.2079C>A c.(2077-2079)aaC>aaA p.N693K ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.N680K|ANAPC5_ENST00000535482.1_Missense_Mutation_p.N359K|ANAPC5_ENST00000441917.2_Missense_Mutation_p.N581K|ANAPC5_ENST00000344395.4_Missense_Mutation_p.N581K NM_016237.4 NP_057321.2 Q9UJX4 APC5_HUMAN anaphase promoting complex subunit 5 693 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity p.N693K(2) breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3) 31 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CTTCATTGAGGTTCTCGATGG 0.453000 7 103 1.12685e-05 1.34672e-05 0.047766 1 0 LPIN1 23175 broad.mit.edu 37 2 11943067 11943067 + Missense_Mutation SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr2:11943067C>T ENST00000256720.2 + 14 1906 c.1813C>T c.(1813-1815)Cgc>Tgc p.R605C LPIN1_ENST00000396097.1_Missense_Mutation_p.R335C|LPIN1_ENST00000396099.1_Missense_Mutation_p.R647C|LPIN1_ENST00000449576.2_Missense_Mutation_p.R690C|LPIN1_ENST00000425416.2_Missense_Mutation_p.R611C|LPIN1_ENST00000404113.2_Missense_Mutation_p.R106C NM_145693.2 NP_663731.1 Q14693 LPIN1_HUMAN lipin 1 605 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity p.R605C(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) TGATGAGGAGCGCGCAGCTGC 0.498000 19 172 0 0 0.175082 0 0 LHX3 8022 broad.mit.edu 37 9 139091593 139091593 + Missense_Mutation SNP C C A rs142521088 TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr9:139091593C>A ENST00000371746.3 - 3 518 c.400G>T c.(400-402)Gac>Tac p.D134Y LHX3_ENST00000371748.5_Missense_Mutation_p.D129Y NM_014564.3 NP_055379.1 Q9UBR4 LHX3_HUMAN LIM homeobox 3 129 LIM zinc-binding 2. inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D134Y(1) large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 8 Myeloproliferative disorder(178;0.0511) Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07) TAGAACTCGTCGCCCGTGGCC 0.672000 9 38 1.12685e-05 1.34672e-05 0.047766 1 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642884 1642884 + Missense_Mutation SNP A A C rs6578597 by1000genomes TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr11:1642884A>C ENST00000399682.1 - 1 484 c.440T>G c.(439-441)tTc>tGc p.F147C NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 207 9 X 4 AA repeats of C-C-X-P. keratin filament p.F147C(1) NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GCCTGAAGAGAAGCAGCAGGG 0.632000 7 170 0 0 0.038147 0 0 SLC4A3 6508 broad.mit.edu 37 2 220502444 220502444 + Missense_Mutation SNP G G A TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr2:220502444G>A ENST00000358055.3 + 17 3189 c.2677G>A c.(2677-2679)Gca>Aca p.A893T SLC4A3_ENST00000373760.2_Missense_Mutation_p.A893T|SLC4A3_ENST00000373762.3_Missense_Mutation_p.A920T|SLC4A3_ENST00000273063.6_Missense_Mutation_p.A920T|SLC4A3_ENST00000317151.3_Missense_Mutation_p.A893T P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 893 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity p.A920T(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCCCAATACGGCACTGCTCTC 0.657000 3 56 0 0 0.150653 0 0 OC90 729330 broad.mit.edu 37 8 133053386 133053386 + Missense_Mutation SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr8:133053386C>T ENST00000262283.5 - 9 1049 c.950G>A c.(949-951)cGc>cAc p.R317H OC90_ENST00000254627.3_Missense_Mutation_p.R121H|OC90_ENST00000603859.1_Missense_Mutation_p.R121H|OC90_ENST00000443356.2_Missense_Mutation_p.R121H Q02509 OC90_HUMAN otoconin 90 121 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity p.R317H(1)|p.R127H(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) ATAGCACCTGCGGTGCTGGAA 0.557000 5 94 0 0 0.217242 0 0 LRIG3 121227 broad.mit.edu 37 12 59282122 59282122 + Missense_Mutation SNP C C G TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr12:59282122C>G ENST00000320743.3 - 7 1222 c.936G>C c.(934-936)aaG>aaC p.K312N LRIG3_ENST00000379141.4_Missense_Mutation_p.K252N NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 312 integral to membrane p.K312N(2) LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) GCTCACTGAGCTTCTGGCAGA 0.493000 T ROS1 NSCLC 8 77 0 0 0.278610 0 0 ANO4 121601 broad.mit.edu 37 12 101488062 101488062 + Missense_Mutation SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr12:101488062C>T ENST00000392979.3 + 17 1986 c.1625C>T c.(1624-1626)aCg>aTg p.T542M ANO4_ENST00000392977.3_Missense_Mutation_p.T577M|ANO4_ENST00000550015.1_Missense_Mutation_p.T97M|ANO4_ENST00000299222.9_Missense_Mutation_p.T97M NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 577 chloride channel complex chloride channel activity p.T542M(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 CTGCTTCTGACGAATTTAGGT 0.328000 HNSCC(74;0.22) 5 55 0 0 0.184627 0 0 RXFP1 59350 broad.mit.edu 37 4 159567948 159567948 + Missense_Mutation SNP G G A TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr4:159567948G>A ENST00000307765.5 + 16 1602 c.1351G>A c.(1351-1353)Gac>Aac p.D451N RXFP1_ENST00000460056.2_Missense_Mutation_p.D370N|RXFP1_ENST00000448688.2_Missense_Mutation_p.D346N|RXFP1_ENST00000343542.5_Missense_Mutation_p.D403N|RXFP1_ENST00000470033.1_Missense_Mutation_p.D418N NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 451 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding p.D451N(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) TCTAGGTGCCGACTGCTTAAT 0.348000 9 85 0 0 0.335167 0 0 TIE1 7075 broad.mit.edu 37 1 43783609 43783609 + Missense_Mutation SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr1:43783609C>T ENST00000372476.3 + 17 2867 c.2788C>T c.(2788-2790)Cgg>Tgg p.R930W TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.R575W NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 930 Protein kinase. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.R930W(2) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) AGATTTTCTGCGGAAAAGCCG 0.527000 28 298 0 0 0.729181 0 0 ADAM28 10863 broad.mit.edu 37 8 24199261 24199261 + Silent SNP C C T rs149263503 byFrequency TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr8:24199261C>T ENST00000265769.4 + 16 1931 c.1821C>T c.(1819-1821)ggC>ggT p.G607G RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Silent_p.G354G NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 607 Cys-rich. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding p.G607G(2) central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) CTAAGTGTGGCGATAACAAGG 0.408000 5 89 0 0 0.184627 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72036214 72036214 + Splice_Site SNP A A C TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr12:72036214A>C ENST00000378743.3 - 6 1986 c.e6+1 NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing RNA processing intracellular metal ion binding p.?(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TTTGGCTCATACCTGGAGAAC 0.343000 7 68 0 0 0.248553 0 0 TSSC2 0 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 3 56 0 0 0.184627 0 0 TTLL5 23093 broad.mit.edu 37 14 76224211 76224211 + Splice_Site SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr14:76224211C>T ENST00000556893.1 + 4 272 c.203_splice c.e4+1 p.R68_splice TTLL5_ENST00000554510.1_Splice_Site_p.R26_splice|TTLL5_ENST00000557636.1_Intron|TTLL5_ENST00000298832.9_Intron|TTLL5_ENST00000555422.1_Intron Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 517 TTL. protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) AGGAAGAACACGGTAATTGAC 0.383000 3 53 0 0 0.115264 0 0 TTC30A 92104 broad.mit.edu 37 2 178483090 178483090 + Missense_Mutation SNP G G A TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr2:178483090G>A ENST00000355689.4 - 1 604 c.340C>T c.(340-342)Cgg>Tgg p.R114W AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A 114 cell projection organization cilium binding p.R114W(1) autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) CGGAGGACCCGGCTGTGGTAG 0.642000 10 71 0 0 0.335167 0 0 DNAH17 8632 broad.mit.edu 37 17 76459153 76459153 + Missense_Mutation SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr17:76459153C>T ENST00000389840.5 - 57 9029 c.8905G>A c.(8905-8907)Gtc>Atc p.V2969I DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.V2978I dynein, axonemal, heavy chain 17 p.V2978I(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GAGGCCTTGACTTCCCACTAC 0.562000 3 27 0 0 0.150653 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19511256 19511256 + Missense_Mutation SNP A A G TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr12:19511256A>G ENST00000538714.1 + 23 2913 c.2909A>G c.(2908-2910)cAt>cGt p.H970R PLEKHA5_ENST00000429027.2_Missense_Mutation_p.H1078R|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.H856R|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.H975R|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.H912R|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.H970R|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.H894R|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.H670R|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.H901R NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 912 P -> S (in Ref. 6; BAA91742). 1-phosphatidylinositol binding|protein binding p.H912R(2)|p.H1073R(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) ATAAGAAGACATCAACAAGCG 0.433000 4 36 0 0 0.150653 0 0 ABCF3 55324 broad.mit.edu 37 3 183908945 183908945 + Missense_Mutation SNP A A C rs140615216 TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr3:183908945A>C ENST00000429586.2 + 16 1656 c.1471A>C c.(1471-1473)Att>Ctt p.I491L EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.I485L NM_018358.2 NP_060828.2 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), member 3 491 ATP binding|ATPase activity p.I491L(1) breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1) 39 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CTCGCCGCCAATTCTGCAGCT 0.557000 8 119 0 0 0.307466 0 0 ZNF678 339500 broad.mit.edu 37 1 227842075 227842075 + Nonsense_Mutation SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr1:227842075C>T ENST00000343776.4 + 4 469 c.124C>T c.(124-126)Cag>Tag p.Q42* ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Nonsense_Mutation_p.Q97* F5GXA7 F5GXA7_HUMAN zinc finger protein 678 97 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.Q42*(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) TTTGCCAGAGCAGGATATGAA 0.333000 11 134 0 0 0.435327 0 0 GART 2618 broad.mit.edu 37 21 34903824 34903824 + Nonsense_Mutation SNP C C A TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr21:34903824C>A ENST00000381831.3 - 6 831 c.568G>T c.(568-570)Gaa>Taa p.E190* GART_ENST00000361093.5_Nonsense_Mutation_p.E190*|GART_ENST00000497313.1_5'UTR|GART_ENST00000381815.4_Nonsense_Mutation_p.E190*|GART_ENST00000381839.3_Nonsense_Mutation_p.E190* NM_001136005.1 NP_001129477.1 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 190 ATP-grasp. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding p.E190*(1) NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) AGAAGTTCTTCAATGACAATT 0.353000 16 168 5.01169e-05 5.80901e-05 0.520397 1 0 NTM 50863 broad.mit.edu 37 11 132081914 132081914 + Splice_Site SNP A A C TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr11:132081914A>C ENST00000374786.1 + 3 879 c.e3-1 NTM_ENST00000374784.1_Splice_Site|NTM_ENST00000374791.3_Splice_Site|NTM_ENST00000425719.2_Splice_Site|NTM_ENST00000427481.2_Splice_Site|NTM_ENST00000539799.1_Splice_Site|NTM_ENST00000474900.1_Splice_Site NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin cell adhesion|neuron recognition anchored to membrane|plasma membrane p.?(2) breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 TTGTTTCCACAGTATCTCCCA 0.383000 4 35 0 0 0.150653 0 0 CEP85L 387119 broad.mit.edu 37 6 118790443 118790443 + Silent SNP T T G TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr6:118790443T>G ENST00000368491.3 - 12 2667 c.2046A>C c.(2044-2046)acA>acC p.T682T CEP85L_ENST00000368488.5_Silent_p.T685T NM_001042475.2 NP_001035940.1 Q5SZL2 CF204_HUMAN centrosomal protein 85kDa-like 682 centrosome p.T682T(1) ATAAAGAGCATGTCTCATCTG 0.413000 10 123 0 0 0.387290 0 0 SNRNP27 11017 broad.mit.edu 37 2 70130361 70130361 + Nonsense_Mutation SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr2:70130361C>T ENST00000244227.3 + 5 822 c.397C>T c.(397-399)Cag>Tag p.Q133* SNRNP27_ENST00000409116.1_Intron|SNRNP27_ENST00000488986.1_3'UTR NM_006857.2 NP_006848.1 Q8WVK2 SNR27_HUMAN small nuclear ribonucleoprotein 27kDa (U4/U6.U5) 133 mRNA processing|RNA splicing nucleus nucleic acid binding p.Q133*(1) cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 11 AAATGTCTCTCAGAAGAGGAA 0.328000 10 117 0 0 0.387290 0 0 WT1-AS 0 broad.mit.edu 37 11 32460593 32460593 + RNA SNP T T C TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr11:32460593T>C ENST00000395900.1 + 0 1471 WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000442957.1_RNA|WT1-AS_ENST00000426618.2_RNA NR_023920.1 p.C56R(1) endometrium(1)|large_intestine(2)|lung(2)|prostate(1) 6 ACCCCGGCGCTGTCCACTGCA 0.617000 3 54 0 0 0.150653 0 0 PEG10 23089 broad.mit.edu 37 7 94293246 94293246 + Silent SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr7:94293246C>T ENST00000482108.1 + 2 857 c.378C>T c.(376-378)acC>acT p.T126T PEG10_ENST00000488574.1_Silent_p.T126T NM_001040152.1|NM_001172438.1|NM_001184962.1 NP_001035242.1|NP_001165909.1|NP_001171891.1 Q86TG7 PEG10_HUMAN paternally expressed 10 126 Necessary for interaction with ALK1. apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway cytoplasm|nucleus DNA binding|protein binding|zinc ion binding p.T126T(1) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1) 21 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) GCATGATGACCGGCCGTGCTG 0.532000 7 99 0 0 0.278610 0 0 CHD4 1108 broad.mit.edu 37 12 6686950 6686950 + Splice_Site SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr12:6686950C>T ENST00000309577.6 - 36 5609 c.e36+1 CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000357008.2_Splice_Site Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding p.?(3) central_nervous_system(2) 2 CAACCGCTCACCTTAAACCTT 0.463000 4 84 0 0 0.150653 0 0 ZNF134 7693 broad.mit.edu 37 19 58132430 58132430 + Missense_Mutation SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr19:58132430C>T ENST00000396161.5 + 3 1253 c.943C>T c.(943-945)Cct>Tct p.P315S NM_003435.3 NP_003426.3 P52741 ZN134_HUMAN zinc finger protein 134 315 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P315S(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1) 11 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) TGGAGAAAATCCTTATGATTG 0.418000 4 104 0 0 0.184627 0 0 HLA-F 3134 broad.mit.edu 37 6 29694720 29694720 + Missense_Mutation SNP G G A TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr6:29694720G>A ENST00000440587.2 + 6 1069 c.710G>A c.(709-711)gGg>gAg p.G237E HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000259951.7_Missense_Mutation_p.G366E P30511 HLAF_HUMAN major histocompatibility complex, class I, F 0 Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity p.G366E(1) cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 TTTCTCCTGGGGGTGCTCTTC 0.498000 11 132 0 0 0.387290 0 0 LILRA4 23547 broad.mit.edu 37 19 54849889 54849889 + Missense_Mutation SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr19:54849889C>T ENST00000291759.4 - 3 189 c.133G>A c.(133-135)Gtg>Atg p.V45M NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 45 Ig-like C2-type 1. integral to membrane receptor activity p.V45M(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) CAGATGGTCACGGGGTTATGC 0.537000 OREG0003656 type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 98 0 0 0.278610 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42446634 42446634 + Silent SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr15:42446634C>T ENST00000397272.3 - 3 298 c.207G>A c.(205-207)gtG>gtA p.V69V PLA2G4F_ENST00000382396.4_Silent_p.V69V NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 69 C2. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity p.V69V(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) GCCACAGTTGCACATAGCAGT 0.597000 5 32 0 0 0.184627 0 0 PFKM 5213 broad.mit.edu 37 12 48533667 48533667 + Missense_Mutation SNP T T C TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr12:48533667T>C ENST00000340802.6 + 15 1600 c.1376T>C c.(1375-1377)cTa>cCa p.L459P PFKM_ENST00000395233.2_Missense_Mutation_p.L357P|PFKM_ENST00000359794.5_Missense_Mutation_p.L388P|PFKM_ENST00000551804.1_Missense_Mutation_p.L357P|PFKM_ENST00000312352.7_Missense_Mutation_p.L388P|PFKM_ENST00000547587.1_Missense_Mutation_p.L388P NM_001166686.1 NP_001160158.1 P08237 K6PF_HUMAN phosphofructokinase, muscle 388 fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis 6-phosphofructokinase complex|apical plasma membrane 6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding p.L388P(1) NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 TACAAGCTTCTAGCTCATGTC 0.512000 4 37 0 0 0.150653 0 0 KRT83 3889 broad.mit.edu 37 12 52709845 52709845 + Missense_Mutation SNP G G T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr12:52709845G>T ENST00000293670.3 - 7 1156 c.1094C>A c.(1093-1095)gCc>gAc p.A365D NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 365 Coil 2.|Rod. epidermis development keratin filament structural molecule activity p.A365D(2) NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) ATCACTGAGGGCCGCCTCACC 0.597000 6 47 0.217242 0.235731 0.217242 1 0 CEP72 55722 broad.mit.edu 37 5 648008 648008 + Silent SNP G G A rs142569661 TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr5:648008G>A ENST00000264935.5 + 11 1845 c.1755G>A c.(1753-1755)acG>acA p.T585T CEP72_ENST00000444221.1_3'UTR NM_018140.3 NP_060610.2 Q9P209 CEP72_HUMAN centrosomal protein 72kDa 585 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol p.T585T(1) autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 20 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) AGGAGCTCACGCAGATGCTGC 0.602000 5 39 0 0 0.184627 0 0 CHD4 1108 broad.mit.edu 37 12 6696651 6696651 + Missense_Mutation SNP G G A TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr12:6696651G>A ENST00000309577.6 - 25 3941 c.3778C>T c.(3778-3780)Cgt>Tgt p.R1260C CHD4_ENST00000544040.1_Missense_Mutation_p.R1253C|CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000544484.1_Missense_Mutation_p.R1257C|CHD4_ENST00000357008.2_Missense_Mutation_p.R1260C Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1260 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding p.R1260C(3) central_nervous_system(2) 2 TCCTGGTTACGGTCTAGCAGC 0.458000 22 150 0 0 0.639603 0 0 NBPF1 55672 broad.mit.edu 37 1 16907266 16907266 + Missense_Mutation SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr1:16907266C>T ENST00000430580.2 - 16 2452 c.1565G>A c.(1564-1566)tGt>tAt p.C522Y NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 522 NBPF 2. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) AGCATCCTGACATTCATCATG 0.443000 33 1709 0 0 0.435327 0 0 USH1G 124590 broad.mit.edu 37 17 72915904 72915904 + Missense_Mutation SNP G G A TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr17:72915904G>A ENST00000319642.1 - 2 1209 c.1027C>T c.(1027-1029)Cgg>Tgg p.R343W NM_173477.2 NP_775748.2 Q495M9 USH1G_HUMAN Usher syndrome 1G (autosomal recessive) 343 equilibrioception|photoreceptor cell maintenance|sensory perception of sound actin cytoskeleton p.R343W(1) HN1/USH1G(2) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3) 14 all_lung(278;0.172)|Lung NSC(278;0.207) AGCCGACCCCGCGGCGCTCCC 0.687000 4 84 0 0 0.184627 0 0 MSH3 4437 broad.mit.edu 37 5 79952234 79952234 + Missense_Mutation SNP C C A TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr5:79952234C>A ENST00000265081.6 + 2 322 c.242C>A c.(241-243)aCa>aAa p.T81K NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 81 Interaction with EXO1. maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding p.T81K(1)|p.T72K(1) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) ATATAGGCTACAGAAATTGAC 0.388000 Mismatch excision repair (MMR) 10 140 1.08611e-07 1.35101e-07 0.387290 1 0 ANAPC5 51433 broad.mit.edu 37 12 121746472 121746472 + Missense_Mutation SNP G G T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr12:121746472G>T ENST00000261819.3 - 17 2200 c.2079C>A c.(2077-2079)aaC>aaA p.N693K ANAPC5_ENST00000441917.2_Missense_Mutation_p.N581K|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Missense_Mutation_p.N581K|ANAPC5_ENST00000541887.1_Missense_Mutation_p.N680K|ANAPC5_ENST00000535482.1_Missense_Mutation_p.N359K NM_016237.4 NP_057321.2 Q9UJX4 APC5_HUMAN anaphase promoting complex subunit 5 693 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity p.N693K(2) breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3) 31 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CTTCATTGAGGTTCTCGATGG 0.453000 7 103 1.12685e-05 1.3365e-05 0.307466 1 0 LPIN1 23175 broad.mit.edu 37 2 11943067 11943067 + Missense_Mutation SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr2:11943067C>T ENST00000256720.2 + 14 1906 c.1813C>T c.(1813-1815)Cgc>Tgc p.R605C LPIN1_ENST00000425416.2_Missense_Mutation_p.R611C|LPIN1_ENST00000404113.2_Missense_Mutation_p.R106C|LPIN1_ENST00000449576.2_Missense_Mutation_p.R690C|LPIN1_ENST00000396099.1_Missense_Mutation_p.R647C|LPIN1_ENST00000396097.1_Missense_Mutation_p.R335C NM_145693.2 NP_663731.1 Q14693 LPIN1_HUMAN lipin 1 605 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity p.R605C(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) TGATGAGGAGCGCGCAGCTGC 0.498000 19 172 0 0 0.539581 0 0 LHX3 8022 broad.mit.edu 37 9 139091593 139091593 + Missense_Mutation SNP C C A rs142521088 TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr9:139091593C>A ENST00000371746.3 - 3 518 c.400G>T c.(400-402)Gac>Tac p.D134Y LHX3_ENST00000371748.5_Missense_Mutation_p.D129Y NM_014564.3 NP_055379.1 Q9UBR4 LHX3_HUMAN LIM homeobox 3 129 LIM zinc-binding 2. inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D134Y(1) large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 8 Myeloproliferative disorder(178;0.0511) Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07) TAGAACTCGTCGCCCGTGGCC 0.672000 9 38 1.12685e-05 1.3365e-05 0.307466 1 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642884 1642884 + Missense_Mutation SNP A A C rs6578597 by1000genomes TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr11:1642884A>C ENST00000399682.1 - 1 484 c.440T>G c.(439-441)tTc>tGc p.F147C NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 207 9 X 4 AA repeats of C-C-X-P. keratin filament p.F147C(1) NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GCCTGAAGAGAAGCAGCAGGG 0.632000 7 170 0 0 0.278610 0 0 MUC3A 4584 broad.mit.edu 37 7 100552898 100552898 + Frame_Shift_Del DEL G G - TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr7:100552898delG ENST00000319509.7 + 2 1543 c.1543delG c.(1543-1545)gcfs p.G515fs mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 TGACAATGGTGGCACCTGGGA 0.567 9 157 --- --- --- --- GSE1 23199 broad.mit.edu 37 16 85701839 85701840 + Frame_Shift_Ins INS - - T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr16:85701839_85701840insT ENST00000253458.7 + 14 3400_3401 c.3224_3225insT c.(3223-3225)cccfs p.P1075fs GSE1_ENST00000405402.2_Frame_Shift_Ins_p.P971fs|GSE1_ENST00000393243.1_Frame_Shift_Ins_p.P1002fs NM_014615.2 NP_055430.1 Gse1 coiled-coil protein AGCCGCGCCCCTCCACCCCAGC 0.639 14 123 --- --- --- --- KRT17P1 0 broad.mit.edu 37 17 16748911 16748913 + RNA DEL GCT GCT - TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr17:16748911_16748913delGCT ENST00000580363.1 - 0 282_284 lung(4) 4 CGCCCTCAAAGCTGCTGCTGCCA 0.650 3 4 --- --- --- --- TBC1D3P2 0 broad.mit.edu 37 17 60347260 60347260 + RNA DEL T T - rs71816198 TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr17:60347260delT ENST00000581291.1 - 0 581 breast(2)|kidney(1)|lung(2) 5 CTCTGAATGATTTTTTTTTTT 0.448 4 2 --- --- --- --- TMEM52 339456 broad.mit.edu 37 1 1850628 1850636 + In_Frame_Del DEL AGCGGCAGG AGCGGCAGG - TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr1:1850628_1850636delAGCGGCAGG ENST00000310991.3 - 1 76_84 c.69_77delCCTGCCGCT c.(67-78)ctg>ct p.LLPL23del NM_178545.3 NP_848640.1 Q8NDY8 TMM52_HUMAN transmembrane protein 52 23 integral to membrane NS(1)|prostate(1)|stomach(1) 3 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CACCTgcggcagcggcaggagcggcagga 0.766 3 5 --- --- --- --- CTBS 1486 broad.mit.edu 37 1 85040025 85040033 + In_Frame_Del DEL AGCAGCGCT AGCAGCGCT - rs150466708 by1000genomes TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr1:85040025_85040033delAGCAGCGCT ENST00000370630.4 - 1 114_122 c.66_74delAGCGCTGCT c.(64-75)ctg>ct p.LALL22del CTBS_ENST00000477677.1_5'UTR NM_004388.2 NP_004379.1 Q01459 DIAC_HUMAN chitobiase, di-N-acetyl- 22 lysosome cation binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 9 all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166) cagcagcgccagcagcgcTAGACCCGGGA 0.718 6 4 --- --- --- --- MUC4 4585 broad.mit.edu 37 3 195512373 195512374 + In_Frame_Ins INS - - GAT rs63118461 by1000genomes TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr3:195512373_195512374insGAT ENST00000463781.3 - 2 6536_6537 c.6077_6078insATC c.(6076-6078)tac>tATCac p.2026_2027insH MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2027insH|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 798 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.S2026_T2027insS(3) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGTCACCAGTGGATGCTGAGGA 0.579 2 4 --- --- --- --- MUC3A 4584 broad.mit.edu 37 7 100552898 100552898 + Frame_Shift_Del DEL G G - TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr7:100552898delG ENST00000319509.7 + 2 1543 c.1543delG c.(1543-1545)gcfs p.G515fs mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 TGACAATGGTGGCACCTGGGA 0.567 9 157 --- --- --- --- RP11-360K13.1 0 broad.mit.edu 37 11 96514999 96514999 + RNA DEL A A - rs112766481 TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr11:96514999delA ENST00000527528.1 + 0 158 CTTAGTTATTaaaaaaaaaaa 0.368 4 6 --- --- --- --- GSE1 23199 broad.mit.edu 37 16 85701839 85701840 + Frame_Shift_Ins INS - - T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr16:85701839_85701840insT ENST00000253458.7 + 14 3400_3401 c.3224_3225insT c.(3223-3225)cccfs p.P1075fs GSE1_ENST00000393243.1_Frame_Shift_Ins_p.P1002fs|GSE1_ENST00000405402.2_Frame_Shift_Ins_p.P971fs NM_014615.2 NP_055430.1 Gse1 coiled-coil protein AGCCGCGCCCCTCCACCCCAGC 0.639 14 123 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684390 26684391 + Frame_Shift_Ins INS - - C rs148075904 by1000genomes TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 30010140-dae9-41fe-96c6-5af69e6bfef2 g.chr17:26684390_26684391insC ENST00000540200.1 - 2 80_81 c.81_82insG c.(79-84)aacgctfs p.NA27fs POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 28 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) GCACAGAGCGGCTTTGCCACCG 0.762 4 6 --- --- --- ---