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 TAS1R1 80835 broad.mit.edu 37 1 6631015 6631015 + Missense_Mutation SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:6631015C>T uc001ant.3 + 1 334 c.238C>T c.(238-240)Cgg>Tgg p.R80W TAS1R1_uc001anu.3_Missense_Mutation_p.R80W|TAS1R1_uc021ofp.1_Missense_Mutation_p.R2W NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA. 80 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) CCAGGCTATGCGGCTTGGGGT 0.532 RERE 473 broad.mit.edu 37 1 8419927 8419927 + Missense_Mutation SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:8419927C>T uc001ape.3 - 19 4325 c.3515G>A c.(3514-3516)cGc>cAc p.R1172H RERE_uc001apf.3_Missense_Mutation_p.R1172H|RERE_uc001apd.3_Missense_Mutation_p.R618H NM_012102 NP_036234 Q9P2R6 RERE_HUMAN Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA. 1172 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CTCAGCCTCGCGCTTGGCCTT 0.662 MIR34A 407040 broad.mit.edu 37 1 9211835 9211835 + Missense_Mutation SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:9211835C>T uc009vmq.3 - 1 446 c.340G>A c.(340-342)Gcc>Acc p.A114T mir-34_uc021ofw.1_Splice_Site Homo sapiens microRNA mir-34. TCACAGCTGGCCGGTCCACGG 0.542 HTR6 3362 broad.mit.edu 37 1 19992747 19992747 + Silent SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:19992747C>T uc001bcl.3 + 0 968 c.501C>T c.(499-501)caC>caT p.H167H NM_000871 NP_000862 P50406 5HT6R_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 6 (HTR6), mRNA. 167 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) TGGGCTGGCACGAGCTGGGCC 0.711 RNF19B 127544 broad.mit.edu 37 1 33402782 33402782 + Silent SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:33402782C>T uc010oho.2 - 8 1824 c.1824G>A c.(1822-1824)acG>acA p.T608T RNF19B_uc001bwm.4_3'UTR|RNF19B_uc010ohp.2_Silent_p.T607T NM_153341 NP_699172 Q6ZMZ0 RN19B_HUMAN Homo sapiens ring finger protein 19B (RNF19B), transcript variant 1, mRNA. 608 integral to membrane ligase activity|protein binding|zinc ion binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4) 13 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GCGAGTCCTCCGTGCTGCTTC 0.502 COL9A2 1298 broad.mit.edu 37 1 40770007 40770007 + Silent SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:40770007G>A uc001cfh.1 - 23 1384 c.1272C>T c.(1270-1272)ggC>ggT p.G424G COL9A2_uc001cfi.1_Silent_p.G243G NM_001852 NP_001843 Q14055 CO9A2_HUMAN Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA. 424 Triple-helical region 3 (COL3). axon guidance|skeletal system development collagen type IX endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) CTCCTTTGACGCCTGGCAAGC 0.607 LRRC7 57554 broad.mit.edu 37 1 70504762 70504762 + Missense_Mutation SNP G G C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:70504762G>C uc001dep.3 + 18 3171 c.3141G>C c.(3139-3141)agG>agC p.R1047S LRRC7_uc009wbg.3_Missense_Mutation_p.R331S|LRRC7_uc001deq.3_Missense_Mutation_p.R288S NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA. 1047 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 CCGAAAAGAGGATACCACCCC 0.448 PTGFR 5737 broad.mit.edu 37 1 78958623 78958623 + Silent SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:78958623G>A uc001din.3 + 1 461 c.195G>A c.(193-195)tcG>tcA p.S65S PTGFR_uc001dim.3_Silent_p.S65S NM_000959 NP_000950 P43088 PF2R_HUMAN Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA. 65 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity p.S65S(3) breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) CCAAGGCATCGTTTCTGCTTT 0.423 GBP4 115361 broad.mit.edu 37 1 89650937 89650937 + Nonstop_Mutation SNP T T A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:89650937T>A uc001dnb.3 - 10 2039 c.1923A>T c.(1921-1923)taA>taT p.*641Y NM_052941 NP_443173 Q96PP9 GBP4_HUMAN Homo sapiens guanylate binding protein 4 (GBP4), mRNA. 0 cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) ATTCAGGCTCTTAAATACGTG 0.343 MAB21L3 126868 broad.mit.edu 37 1 116670945 116670945 + Silent SNP G G A rs148441950 TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:116670945G>A uc001egc.1 + 5 1105 c.840G>A c.(838-840)acG>acA p.T280T NM_152367 NP_689580 Q8N8X9 MB213_HUMAN Homo sapiens mab-21-like 3 (C. elegans) (MAB21L3), mRNA. 280 breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1) 19 CGGTTATCACGTCCCACCATC 0.582 NBPF10 400818 broad.mit.edu 37 1 144823890 144823890 + Nonsense_Mutation SNP C C G TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:144823890C>G uc009wig.1 + 15 2119 c.1925C>G c.(1924-1926)tCa>tGa p.S642* NBPF10_uc010oxo.1_Intron|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Nonsense_Mutation_p.S445*|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Nonsense_Mutation_p.S304* NM_001037675 NP_001032764 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA. 644 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TCAACTCCTTCAGGTTGTCTT 0.483 FLG 2312 broad.mit.edu 37 1 152283564 152283564 + Missense_Mutation SNP C C A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:152283564C>A uc001ezu.1 - 2 3834 c.3798G>T c.(3796-3798)caG>caT p.Q1266H AK056431_uc001ezv.3_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1266 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CACTGGATCCCTGGTGCCTGC 0.562 Ichthyosis OR6N2 81442 broad.mit.edu 37 1 158746549 158746549 + Missense_Mutation SNP G G A rs144962739 TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:158746549G>A uc010pir.2 - 0 877 c.877C>T c.(877-879)Cgt>Tgt p.R293C NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA. 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) TCCTTGTTACGAAGACTGTAG 0.418 IGSF8 93185 broad.mit.edu 37 1 160064843 160064843 + Silent SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:160064843G>A uc001fva.3 - 1 303 c.258C>T c.(256-258)ttC>ttT p.F86F IGSF8_uc001fuz.3_Silent_p.F86F|IGSF8_uc009wtf.3_Silent_p.F86F NM_052868 NP_443100 Q969P0 IGSF8_HUMAN Homo sapiens immunoglobulin superfamily, member 8 (IGSF8), transcript variant 1, mRNA. 86 Ig-like C2-type 1. cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding p.Q85L(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CAGCATAGGAGAACTGGGTAT 0.602 SEC16B 89866 broad.mit.edu 37 1 177927423 177927423 + Silent SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:177927423G>A uc001glj.1 - 14 2078 c.1212C>T c.(1210-1212)ccC>ccT p.P404P SEC16B_uc001glk.1_Silent_p.P80P|SEC16B_uc001glh.1_Silent_p.P62P|SEC16B_uc001gli.1_Silent_p.P403P|SEC16B_uc009wwz.1_Silent_p.P62P|SEC16B_uc001gll.4_Silent_p.P404P NM_033127 NP_149118 Q96JE7 SC16B_HUMAN Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA. 403 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 TGGCCACAGGGGGCTGCCGCT 0.587 GPATCH2 55105 broad.mit.edu 37 1 217688167 217688167 + Missense_Mutation SNP T T C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:217688167T>C uc001hlf.1 - 5 1259 c.1163A>G c.(1162-1164)cAt>cGt p.H388R NM_018040 NP_060510 Q9NW75 GPTC2_HUMAN Homo sapiens G patch domain containing 2 (GPATCH2), mRNA. 388 intracellular nucleic acid binding NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1) 35 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) TACTCACTCATGGTGATGAGA 0.353 NVL 4931 broad.mit.edu 37 1 224514105 224514105 + Missense_Mutation SNP T T C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:224514105T>C uc001hok.3 - 1 181 c.119A>G c.(118-120)cAa>cGa p.Q40R NVL_uc001hol.3_Intron|NVL_uc010pvd.2_Missense_Mutation_p.Q40R|NVL_uc010pve.2_Intron|NVL_uc010pvf.2_Intron|NVL_uc010pvg.2_Missense_Mutation_p.Q40R NM_002533 NP_002524 O15381 NVL_HUMAN Homo sapiens nuclear VCP-like (NVL), transcript variant 1, mRNA. 40 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1) 42 GBM - Glioblastoma multiforme(131;0.00501) GTACACTCTTTGTAAATCAGA 0.318 OR4P4 81300 broad.mit.edu 37 11 55406513 55406513 + Missense_Mutation SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr11:55406513C>T uc010rij.2 + 0 680 c.680C>T c.(679-681)tCt>tTt p.S227F NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA. 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S227F(2) autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 AGAGCATACTCTGCAGAGAGA 0.393 OR5D16 390144 broad.mit.edu 37 11 55606713 55606713 + Silent SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr11:55606713G>A uc010rio.2 + 0 486 c.486G>A c.(484-486)gcG>gcA p.A162A NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA. 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A162T(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) TGACACTCGCGTGCTCTGCTT 0.453 PVRL1 5818 broad.mit.edu 37 11 119535607 119535607 + Nonsense_Mutation SNP G G C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr11:119535607G>C uc001pwv.3 - 5 1576 c.1404C>G c.(1402-1404)taC>taG p.Y468* PVRL1_uc001pwu.1_Intron NM_002855 NP_002846 Q15223 PVRL1_HUMAN Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 1, mRNA. 468 adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) CCACGGTGAAGTAGGGCCGCT 0.667 GPR162 10536 broad.mit.edu 37 12 6939135 6939135 + Missense_Mutation SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr12:6939135G>A uc001qra.1 + 2 642 c.608G>A c.(607-609)cGg>cAg p.R203Q GPR162_uc001qrb.1_Missense_Mutation_p.R11Q|GPR162_uc001qqy.1_Missense_Mutation_p.R139Q NM_014262 NP_055077 Q16538 GP162_HUMAN Homo sapiens leprecan-like 2 (LEPREL2), mRNA. 0 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 TCGGGAGTTCGGCCCCAGAGC 0.602 C12orf39 80763 broad.mit.edu 37 12 21681996 21681996 + Silent SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr12:21681996G>A uc001rfa.1 + 4 421 c.270G>A c.(268-270)gcG>gcA p.A90A C12orf39_uc009ziv.1_Non-coding_Transcript|C12orf39_uc009ziw.1_Non-coding_Transcript NM_030572 NP_085049 Q9BT56 SPXN_HUMAN Homo sapiens chromosome 12 open reading frame 39 (C12orf39), mRNA. 90 extracellular region|nucleus|transport vesicle endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1) 7 TCTTACTGGCGTCCCTTCAGA 0.438 ITPR2 3709 broad.mit.edu 37 12 26628304 26628304 + Silent SNP A A G TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr12:26628304A>G uc001rhg.3 - 44 6684 c.6267T>C c.(6265-6267)caT>caC p.H2089H ITPR2_uc009zjg.1_Silent_p.H240H NM_002223 NP_002214 Q14571 ITPR2_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA. 2089 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) CATCATCCCCATGGTCACATT 0.368 SCAF11 9169 broad.mit.edu 37 12 46321868 46321868 + Missense_Mutation SNP G G C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr12:46321868G>C uc001rox.3 - 10 1903 c.1616C>G c.(1615-1617)aCa>aGa p.T539R SCAF11_uc001row.3_Missense_Mutation_p.T224R|SCAF11_uc001roy.1_Missense_Mutation_p.T613R NM_004719 NP_004710 Q99590 SCAFB_HUMAN Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA. 539 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 ACATACATCTGTCTTTACCTC 0.363 SPATS2 65244 broad.mit.edu 37 12 49919998 49919998 + Missense_Mutation SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr12:49919998G>A uc001rud.2 + 13 2587 c.1598G>A c.(1597-1599)cGc>cAc p.R533H SPATS2_uc001rue.2_Non-coding_Transcript|SPATS2_uc009zli.1_Missense_Mutation_p.R533H|SPATS2_uc001ruf.2_Missense_Mutation_p.R533H NM_023071 NP_075559 Q86XZ4 SPAS2_HUMAN Homo sapiens spermatogenesis associated, serine-rich 2 (SPATS2), mRNA. 533 cytoplasm p.R533H(2) breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4) 21 CTCCCCCAGCGCAAACCCAGG 0.522 MGAT4C 25834 broad.mit.edu 37 12 86373320 86373324 + Frame_Shift_Del DEL TTTAC TTTAC - TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr12:86373320_86373324delTTTAC uc010sum.2 - 5 1411_1415 c.1252_1256delGTAAA c.(1252-1257)gtaaatfs p.V418fs MGAT4C_uc001tal.4_Frame_Shift_Del_p.V394fs|MGAT4C_uc001taj.4_Frame_Shift_Del_p.V394fs|MGAT4C_uc001tak.4_Frame_Shift_Del_p.V394fs|MGAT4C_uc001tai.4_Frame_Shift_Del_p.V394fs|MGAT4C_uc001tah.4_Frame_Shift_Del_p.V394fs NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA. 394 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 TGTTCCAGTATTTACtttaattttt 0.346 RFX4 5992 broad.mit.edu 37 12 107033171 107033172 + Splice_Site INS - - T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr12:107033171_107033172insT uc001tlt.3 + 3 358 c.218_splice c.e3+1 p.W73_splice LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Splice_Site_p.W64_splice|RFX4_uc010swv.2_Splice_Site|RFX4_uc001tls.3_Splice_Site_p.W73_splice NM_001206691 NP_001193620 Q33E94 RFX4_HUMAN Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA. 64 transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 CTCTGCAATGGTAAGTTTCCAT 0.371 FLT3 2322 broad.mit.edu 37 13 28592630 28592630 + Missense_Mutation SNP C C G TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr13:28592630C>G uc001urw.3 - 19 2597 c.2515G>C c.(2515-2517)Gat>Cat p.D839H FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Intron NM_004119 NP_004110 P36888 FLT3_HUMAN Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA. 839 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity p.D839?(2)|p.D835_S838del(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TAGTTGGAATCACTCATGATA 0.453 """Mis, O""" """AML, ALL""" RB1 5925 broad.mit.edu 37 13 48955560 48955563 + Frame_Shift_Del DEL AATC AATC - TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr13:48955560_48955563delAATC uc001vcb.3 + 16 1842_1845 c.1676_1679delAATC c.(1675-1680)gaatccfs p.E559fs NM_000321 NP_000312 P06400 RB_HUMAN Homo sapiens retinoblastoma 1 (RB1), mRNA. 559 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(8) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CGAATCATGGAATCCCTTGCATGG 0.328 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) CTAGE11P 647288 broad.mit.edu 37 13 75814354 75814354 + Missense_Mutation SNP C C G TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr13:75814354C>G uc010ths.2 - 0 164 c.123G>C c.(121-123)tgG>tgC p.W41C Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA. CCACCAGTTCCCATGGAAAAC 0.488 PSMA3 5684 broad.mit.edu 37 14 58737688 58737688 + Missense_Mutation SNP T T C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr14:58737688T>C uc001xdj.2 + 9 811 c.695T>C c.(694-696)aTa>aCa p.I232T C14orf37_uc010tro.2_Intron|PSMA3_uc001xdk.2_Missense_Mutation_p.I225T|PSMA3_uc021rtt.1_Missense_Mutation_p.I157T|C14orf37_uc001xdl.3_Intron|C14orf37_uc021rtu.1_Intron NM_002788 NP_002779 P25788 PSA3_HUMAN Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 3 (PSMA3), transcript variant 1, mRNA. 232 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex protein binding|threonine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2) 12 CCAAAAGATATAAGAGAAGAA 0.368 CDCA4 55038 broad.mit.edu 37 14 105477700 105477700 + Silent SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr14:105477700G>A uc021sep.1 - 0 567 c.567C>T c.(565-567)taC>taT p.Y189Y CDCA4_uc001yqa.2_Silent_p.Y189Y|CDCA4_uc001yqb.2_Silent_p.Y189Y NM_145701 NP_663747 Q9BXL8 CDCA4_HUMAN Homo sapiens cell division cycle associated 4 (CDCA4), transcript variant 2, mRNA. 189 nucleus endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.142) TGTCCAGGTCGTAGTAGGGGC 0.587 MKRN3 7681 broad.mit.edu 37 15 23812072 23812072 + Silent SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr15:23812072G>A uc001ywh.4 + 0 1619 c.1143G>A c.(1141-1143)gaG>gaA p.E381E MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Silent_p.E381E NM_005664 NP_005655 Q13064 MKRN3_HUMAN Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA. 381 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) TGGAGGAGGAGGAAGAGAAGC 0.507 FMN1 342184 broad.mit.edu 37 15 33358855 33358855 + Missense_Mutation SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr15:33358855G>A uc001zhf.4 - 0 1231 c.1231C>T c.(1231-1233)Cgg>Tgg p.R411W FMN1_uc001zhg.2_Missense_Mutation_p.R411W NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN Homo sapiens formin 1 (FMN1), mRNA. 172 Microtubule-binding (By similarity). actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) CTGGGGGGCCGGATGAATAGG 0.567 GPR176 11245 broad.mit.edu 37 15 40093624 40093624 + Silent SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr15:40093624C>T uc001zkj.1 - 2 2123 c.1257G>A c.(1255-1257)gcG>gcA p.A419A GPR176_uc010uck.1_Silent_p.A359A NM_007223 NP_009154 Q14439 GP176_HUMAN Homo sapiens G protein-coupled receptor 176 (GPR176), mRNA. 419 synaptic transmission integral to plasma membrane G-protein coupled receptor activity central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2) 23 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) GGGCAGAGGGCGCAAACTGTG 0.572 PLA2G4D 283748 broad.mit.edu 37 15 42364007 42364007 + Missense_Mutation SNP C C A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr15:42364007C>A uc001zox.3 - 14 1633 c.1538G>T c.(1537-1539)aGg>aTg p.R513M NM_178034 NP_828848 Q86XP0 PA24D_HUMAN Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA. 513 PLA2c. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity p.R513G(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) CGGGATCCTCCTCATCAGCCG 0.617 C15orf48 84419 broad.mit.edu 37 15 45724277 45724277 + Nonsense_Mutation SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr15:45724277C>T uc001zvg.3 + 3 248 c.130C>T c.(130-132)Cga>Tga p.R44* C15orf48_uc001zvh.3_Nonsense_Mutation_p.R44*|C15orf48_uc021skp.1_5'Flank NM_197955 NP_922946 Q9C002 NMES1_HUMAN Homo sapiens chromosome 15 open reading frame 48 (C15orf48), transcript variant 1, mRNA. 44 nucleus large_intestine(1)|lung(2)|ovary(1) 4 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06) TAGCCTTGATCGAAAAAAAAA 0.313 UACA 55075 broad.mit.edu 37 15 70970467 70970467 + Missense_Mutation SNP C C T rs145715387 TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr15:70970467C>T uc002asr.3 - 10 1074 c.970G>A c.(970-972)Gtc>Atc p.V324I UACA_uc010uke.2_Missense_Mutation_p.V215I|UACA_uc002asq.3_Missense_Mutation_p.V311I|UACA_uc010bin.1_Missense_Mutation_p.V310I NM_018003 NP_060473 Q9BZF9 UACA_HUMAN Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA. 324 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 AAACCATTGACTTTATCCAAA 0.284 MYH11 4629 broad.mit.edu 37 16 15857677 15857677 + Nonsense_Mutation SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr16:15857677G>A uc002ddx.3 - 10 1233 c.1126C>T c.(1126-1128)Cag>Tag p.Q376* MYH11_uc002ddv.3_Nonsense_Mutation_p.Q376*|MYH11_uc002ddw.3_Nonsense_Mutation_p.Q369*|MYH11_uc002ddy.3_Nonsense_Mutation_p.Q369*|MYH11_uc010bvg.3_Nonsense_Mutation_p.Q201*|MYH11_uc002dea.1_Nonsense_Mutation_p.Q75* NM_001040114 NP_001035203 P35749 MYH11_HUMAN Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA. 369 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 ATGGACGCCTGGTCTGTGTTT 0.507 T CBFB AML DNAH3 55567 broad.mit.edu 37 16 21145656 21145656 + Missense_Mutation SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr16:21145656C>T uc010vbe.2 - 6 1006 c.1006G>A c.(1006-1008)Gcc>Acc p.A336T DNAH3_uc002die.2_Missense_Mutation_p.A307T NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 336 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.S335S(1) NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CACTTCTTGGCGCTCCTGTAG 0.527 ITGAD 3681 broad.mit.edu 37 16 31426282 31426282 + Silent SNP C C T rs144306080 byFrequency TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr16:31426282C>T uc010cap.1 + 17 2305 c.2256C>T c.(2254-2256)gcC>gcT p.A752A ITGAD_uc002ebv.1_Silent_p.A751A NM_005353 NP_005344 Q13349 ITAD_HUMAN Homo sapiens integrin, alpha D (ITGAD), mRNA. 751 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 CTGTGCTGGCCGTGGGCTCAC 0.537 CYLD 1540 broad.mit.edu 37 16 50815179 50815179 + Missense_Mutation SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr16:50815179C>T uc021tib.1 + 7 1664 c.1541C>T c.(1540-1542)aCg>aTg p.T514M CYLD_uc002ego.3_Missense_Mutation_p.T511M|CYLD_uc010cbs.1_Missense_Mutation_p.T511M|CYLD_uc002egp.1_Missense_Mutation_p.T511M|CYLD_uc002egq.1_Missense_Mutation_p.T511M|CYLD_uc002egr.1_Missense_Mutation_p.T511M|CYLD_uc002egs.1_Missense_Mutation_p.T511M NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA. 514 CAP-Gly 3.|Interaction with IKBKG/NEMO.|Interaction with TRIP. cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding p.T514fs*29(2)|p.T514T(1) central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1) 62 all_cancers(37;0.0156) GCAGGCTGTACGGATGGAACC 0.453 """Mis, N, F, S""" cylindroma cylindroma Multiple Trichoepithelioma, Familial;Familial Cylindromatosis DNAAF1 123872 broad.mit.edu 37 16 84203580 84203580 + Missense_Mutation SNP C C A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr16:84203580C>A uc002fhl.4 + 7 1327 c.1146C>A c.(1144-1146)agC>agA p.S382R DNAAF1_uc010vnw.2_Missense_Mutation_p.S146R NM_178452 NP_848547 Q8NEP3 DAAF1_HUMAN Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA. 382 axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 TTAAGGAAAGCTTTGAGGCCA 0.577 NLRP1 22861 broad.mit.edu 37 17 5463322 5463322 + Missense_Mutation SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr17:5463322G>A uc002gci.3 - 3 1249 c.694C>T c.(694-696)Ccc>Tcc p.P232S NLRP1_uc002gcg.1_Missense_Mutation_p.P232S|NLRP1_uc002gch.4_Missense_Mutation_p.P232S|NLRP1_uc002gck.3_Missense_Mutation_p.P232S|NLRP1_uc002gcj.3_Missense_Mutation_p.P232S|NLRP1_uc002gcl.3_Missense_Mutation_p.P232S|NLRP1_uc010clh.3_Missense_Mutation_p.P232S NM_033004 NP_127497 Q9C000 NALP1_HUMAN Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA. 232 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) GCCCATGGGGGCCTGCCTTTC 0.507 TP53 7157 broad.mit.edu 37 17 7577548 7577548 + Missense_Mutation SNP C C T rs28934575 TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr17:7577548C>T uc002gim.2 - 6 927 c.733G>A c.(733-735)Ggc>Agc p.G245S TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.3_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 245 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G245S(600)|p.G245C(110)|p.G245D(99)|p.G245V(58)|p.G244D(42)|p.G244C(37)|p.G244S(37)|p.G245R(20)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.G245A(8)|p.G152S(8)|p.0?(8)|p.G245fs*2(5)|p.G244fs*3(5)|p.?(5)|p.G245N(4)|p.G244_M246>V(4)|p.G152C(4)|p.G244R(4)|p.G245G(3)|p.G245H(2)|p.G245L(2)|p.G244fs*17(2)|p.G245F(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.G245fs*22(2)|p.S241_G245delSCMGG(2)|p.G245del(2)|p.G245fs*14(2)|p.G245fs*17(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245E(1)|p.G244fs*4(1)|p.G244fs*19(1)|p.C242fs*98(1)|p.G244del(1)|p.M243fs*18(1)|p.M243_G244>IC(1)|p.G244E(1)|p.G151_M153>V(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGGTTCATGCCGCCCATGCAG 0.577 G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) MYH8 4626 broad.mit.edu 37 17 10297588 10297588 + Missense_Mutation SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr17:10297588C>T uc002gmm.2 - 34 5239 c.5144G>A c.(5143-5145)cGt>cAt p.R1715H AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 1715 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 GAGCTGGACACGCTCACTGGC 0.512 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling CCL13 6357 broad.mit.edu 37 17 32685057 32685057 + Missense_Mutation SNP A A C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr17:32685057A>C uc002hic.3 + 2 279 c.204A>C c.(202-204)aaA>aaC p.K68N NM_005408 NP_005399 Q99616 CCL13_HUMAN Homo sapiens chemokine (C-C motif) ligand 13 (CCL13), mRNA. 68 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response extracellular space chemokine activity|signal transducer activity large_intestine(1)|prostate(1) 2 Ovarian(249;0.0443)|Breast(31;0.151) TCAGAACCAAACTGGGCAAGG 0.512 KRT25 147183 broad.mit.edu 37 17 38911514 38911514 + Nonsense_Mutation SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr17:38911514G>A uc002hve.3 - 0 71 c.10C>T c.(10-12)Cga>Tga p.R4* NM_181534 NP_853512 Q7Z3Z0 K1C25_HUMAN Homo sapiens keratin 25 (KRT25), mRNA. 4 Head. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) CTGGAAAGTCGAAGAGACATG 0.488 DHX8 1659 broad.mit.edu 37 17 41601142 41601142 + Missense_Mutation SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr17:41601142G>A uc002idu.1 + 22 3662 c.3590G>A c.(3589-3591)cGt>cAt p.R1197H DHX8_uc010wig.2_Intron NM_004941 NP_004932 Q14562 DHX8_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA. 1197 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) AAGCAACAGCGTCTTGAACCC 0.517 TBX21 30009 broad.mit.edu 37 17 45822386 45822386 + Missense_Mutation SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr17:45822386G>A uc002ilv.1 + 5 1473 c.1262G>A c.(1261-1263)cGa>cAa p.R421Q NM_013351 NP_037483 Q9UL17 TBX21_HUMAN Homo sapiens T-box 21 (TBX21), mRNA. 421 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 22 TCCTACTACCGAGGCCAGGAG 0.662 MC2R 4158 broad.mit.edu 37 18 13885081 13885081 + Missense_Mutation SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr18:13885081C>T uc002ksp.1 - 1 614 c.437G>A c.(436-438)cGc>cAc p.R146H MC2R_uc021uhs.1_Missense_Mutation_p.R146H NM_000529 NP_000520 Q01718 ACTHR_HUMAN Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA. 146 R -> H (in GCCD1). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding p.R146H(2) breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Corticotropin(DB01285)|Cosyntropin(DB01284) CACCACAGTGCGGCGCATGGT 0.577 ATP5A1 498 broad.mit.edu 37 18 43668121 43668121 + Silent SNP T T C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr18:43668121T>C uc002lbr.1 - 5 843 c.753A>G c.(751-753)caA>caG p.Q251Q ATP5A1_uc010dnl.1_Silent_p.Q201Q|ATP5A1_uc002lbs.1_Silent_p.Q201Q|ATP5A1_uc002lbt.1_Silent_p.Q251Q NM_004046 NP_004037 P25705 ATPA_HUMAN Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle (ATP5A1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 251 ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain mitochondrial matrix|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1) 22 TGGATCTCTTTTGACCAATAG 0.368 INSR 3643 broad.mit.edu 37 19 7117197 7117197 + Missense_Mutation SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr19:7117197G>A uc002mgd.1 - 21 4128 c.4019C>T c.(4018-4020)gCg>gTg p.A1340V INSR_uc002mge.1_Missense_Mutation_p.A1328V NM_000208 NP_000199 P06213 INSR_HUMAN Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA. 1340 activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding p.A1340V(5)|p.A1340A(1) breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCGGCCCCCCGCCTCCTCCCT 0.592 FBN3 84467 broad.mit.edu 37 19 8160957 8160957 + Silent SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr19:8160957G>A uc002mjf.3 - 43 5564 c.5547C>T c.(5545-5547)gaC>gaT p.D1849D NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 1849 EGF-like 29; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GGTCACACTCGTCAATGTCTG 0.582 OR7C1 26664 broad.mit.edu 37 19 14910414 14910414 + Frame_Shift_Del DEL A A - TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr19:14910414delA uc010xnz.2 - 0 535 c.535delT c.(535-537)tgtfs p.C179fs NM_198944 NP_945182 O76099 OR7C1_HUMAN Homo sapiens olfactory receptor, family 7, subfamily C, member 1 (OR7C1), mRNA. 179 sensory perception of smell|spermatogenesis integral to membrane|plasma membrane olfactory receptor activity p.C179fs*7(2) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1) 18 AGTAGATCACAAAAAAAGTGT 0.478 UPF1 5976 broad.mit.edu 37 19 18976409 18976409 + Missense_Mutation SNP G G A rs139317612 TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr19:18976409G>A uc002nkg.3 + 21 3367 c.3092G>A c.(3091-3093)cGc>cAc p.R1031H UPF1_uc002nkf.3_Missense_Mutation_p.R1020H|UPF1_uc002nkh.3_Missense_Mutation_p.R275H NM_002911 NP_002902 Q92900 RENT1_HUMAN Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA. 1031 cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 CGTGGGGGACGCCAGAAGAAC 0.642 PLEKHG2 64857 broad.mit.edu 37 19 39908257 39908257 + Silent SNP T T C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr19:39908257T>C uc010xuz.2 + 7 1132 c.807T>C c.(805-807)gcT>gcC p.A269A PLEKHG2_uc010xuy.2_Silent_p.A210A|PLEKHG2_uc002olj.3_Silent_p.A269A|PLEKHG2_uc010xva.2_Silent_p.A76A NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA. 269 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) TGGAGGAAGCTATTGTGTCCA 0.647 XRCC1 7515 broad.mit.edu 37 19 44057610 44057610 + Missense_Mutation SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr19:44057610C>T uc002owt.2 - 5 664 c.544G>A c.(544-546)Gcc>Acc p.A182T XRCC1_uc010xwp.1_Missense_Mutation_p.A151T NM_006297 NP_006288 P18887 XRCC1_HUMAN Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA. 182 base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Prostate(69;0.0153) AGAGAGTTGGCGCTCTCATCC 0.577 Other BER factors NLRP2 55655 broad.mit.edu 37 19 55501996 55501996 + Silent SNP G G C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr19:55501996G>C uc021vbq.1 + 9 2775 c.2664G>C c.(2662-2664)ctG>ctC p.L888L NLRP2_uc010yfp.2_Silent_p.L865L|NLRP2_uc002qij.3_Silent_p.L888L|NLRP2_uc010esp.3_Silent_p.L866L|NLRP2_uc010esn.3_Silent_p.L864L|NLRP2_uc010eso.3_Silent_p.L885L NM_001174081 NP_060322 Q9NX02 NALP2_HUMAN Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA. 888 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) TGAAGTTTCTGTGTGAGGGCT 0.567 NLRP5 126206 broad.mit.edu 37 19 56539073 56539073 + Missense_Mutation SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr19:56539073G>A uc002qmj.3 + 6 1474 c.1474G>A c.(1474-1476)Gcc>Acc p.A492T NLRP5_uc002qmi.3_Missense_Mutation_p.A473T NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 492 NACHT. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GGAGAGCGTCGCCCCCTTCAA 0.637 DYSF 8291 broad.mit.edu 37 2 71909724 71909724 + Missense_Mutation SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr2:71909724C>T uc010fen.3 + 54 6379 c.6238C>T c.(6238-6240)Cgg>Tgg p.R2080W DYSF_uc010fei.3_Missense_Mutation_p.R2058W|DYSF_uc010feh.3_Missense_Mutation_p.R2048W|DYSF_uc002sig.4_Missense_Mutation_p.R2027W|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.R2072W|DYSF_uc010fee.3_Missense_Mutation_p.R2062W|DYSF_uc010fef.3_Missense_Mutation_p.R2079W|DYSF_uc002sie.3_Missense_Mutation_p.R2041W|DYSF_uc010feo.3_Missense_Mutation_p.R2073W|DYSF_uc010fej.3_Missense_Mutation_p.R2049W|DYSF_uc010fel.3_Missense_Mutation_p.R2028W|DYSF_uc010fem.3_Missense_Mutation_p.R2063W|DYSF_uc002sif.3_Missense_Mutation_p.R2042W|DYSF_uc010fek.3_Missense_Mutation_p.R2059W|DYSF_uc010yqy.2_Missense_Mutation_p.R922W|DYSF_uc010yqz.2_Missense_Mutation_p.R802W NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 2041 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CATCCTGTGGCGGCGTTTCCG 0.582 ASTL 431705 broad.mit.edu 37 2 96798441 96798441 + Missense_Mutation SNP G G A rs145986421 TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr2:96798441G>A uc010yui.2 - 5 475 c.475C>T c.(475-477)Cgc>Tgc p.R159C NM_001002036 NP_001002036 Q6HA08 ASTL_HUMAN Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA. 159 proteolysis metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30 CCTCCACTGCGCCCCACACTC 0.627 NEB 4703 broad.mit.edu 37 2 152470900 152470900 + Nonsense_Mutation SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr2:152470900G>A uc021vrb.1 - 71 10791 c.10762C>T c.(10762-10764)Cag>Tag p.Q3588* NEB_uc002txu.3_Nonsense_Mutation_p.Q3831*|NEB_uc021vrc.1_Nonsense_Mutation_p.Q3831*|NEB_uc010fnx.3_Nonsense_Mutation_p.Q3576*|NEB_uc021vrd.1_Nonsense_Mutation_p.Q3588* NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 3588 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) ACAAGGATCTGACACTTCTTG 0.527 ZNF804A 91752 broad.mit.edu 37 2 185801478 185801478 + Nonsense_Mutation SNP C C G TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr2:185801478C>G uc002uph.3 + 3 1949 c.1355C>G c.(1354-1356)tCa>tGa p.S452* NM_194250 NP_919226 Q7Z570 Z804A_HUMAN Homo sapiens zinc finger protein 804A (ZNF804A), mRNA. 452 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 ACGAAACCATCAATTTCCTAT 0.333 COL3A1 1281 broad.mit.edu 37 2 189851838 189851838 + Silent SNP A A G TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr2:189851838A>G uc002uqj.1 + 4 618 c.501A>G c.(499-501)ggA>ggG p.G167G NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 167 Nonhelical region (N-terminal). axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TAGCAGTAGGAGGACTCGCAG 0.403 COL3A1 1281 broad.mit.edu 37 2 189864035 189864035 + Missense_Mutation SNP C C A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr2:189864035C>A uc002uqj.1 + 29 2164 c.2047C>A c.(2047-2049)Cgt>Agt p.R683S NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 683 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CCCTGGTGAACGTGGACCTCC 0.493 ANKAR 150709 broad.mit.edu 37 2 190571779 190571779 + Missense_Mutation SNP A A C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr2:190571779A>C uc002uqw.2 + 8 2114 c.2026A>C c.(2026-2028)Atc>Ctc p.I676L ANKAR_uc002uqu.3_Non-coding_Transcript NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA. 676 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) AAATAATATAATCCATTTATC 0.343 ZNF142 7701 broad.mit.edu 37 2 219507508 219507508 + Missense_Mutation SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr2:219507508C>T uc002vin.3 - 7 4167 c.3731G>A c.(3730-3732)cGc>cAc p.R1244H ZNF142_uc002vil.3_Missense_Mutation_p.R1205H|ZNF142_uc010fvt.3_Missense_Mutation_p.R1081H|ZNF142_uc002vim.3_Missense_Mutation_p.R1081H NM_001105537 NP_001099007 P52746 ZN142_HUMAN Homo sapiens zinc finger protein 142 (ZNF142), mRNA. 1244 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CCGGTGCAAGCGCAGTTTCGA 0.542 NYAP2 57624 broad.mit.edu 37 2 226447451 226447451 + Missense_Mutation SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr2:226447451G>A uc002voe.2 + 3 1493 c.1318G>A c.(1318-1320)Gtc>Atc p.V440I NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.V210I NM_020864 NP_065915 Q9P242 K1486_HUMAN Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA. 440 Pro-rich. p.V440I(1) TCCCTCCCCCGTCAGCATGGG 0.642 TRPM8 79054 broad.mit.edu 37 2 234891861 234891861 + Silent SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr2:234891861C>T uc002vvh.3 + 19 2794 c.2754C>T c.(2752-2754)gaC>gaT p.D918D TRPM8_uc010fyj.3_Silent_p.D496D|TRPM8_uc010fyk.3_Non-coding_Transcript NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA. 918 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) TGCCCAGTGACGTGGATGGTA 0.592 VPS16 64601 broad.mit.edu 37 20 2843940 2843940 + Missense_Mutation SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr20:2843940G>A uc002whe.3 + 14 1420 c.1372G>A c.(1372-1374)Gtg>Atg p.V458M PTPRA_uc002whj.3_5'Flank|VPS16_uc002whf.3_Missense_Mutation_p.V314M|VPS16_uc002whg.3_Missense_Mutation_p.V144M NM_022575 NP_072097 Q9H269 VPS16_HUMAN Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA. 458 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 TACCAGGCTCGTGTTGCGGAG 0.592 SMOX 54498 broad.mit.edu 37 20 4162543 4162543 + Missense_Mutation SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr20:4162543C>T uc002wkp.2 + 3 730 c.529C>T c.(529-531)Cgt>Tgt p.R177C SMOX_uc010zqo.1_Missense_Mutation_p.R154C|SMOX_uc002wkk.1_Missense_Mutation_p.R177C|SMOX_uc002wkl.1_Missense_Mutation_p.R177C|SMOX_uc002wkm.1_Missense_Mutation_p.R177C|SMOX_uc002wkn.1_Intron|SMOX_uc002wko.1_Missense_Mutation_p.R177C NM_175839 NP_787033 Q9NWM0 SMOX_HUMAN Homo sapiens spermine oxidase (SMOX), transcript variant 1, mRNA. 177 polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1) 26 Spermine(DB00127) AGAGGAGGTGCGTAACCGCAT 0.537 ZNF831 128611 broad.mit.edu 37 20 57767832 57767832 + Silent SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr20:57767832C>T uc002yan.3 + 0 1758 c.1758C>T c.(1756-1758)gaC>gaT p.D586D NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 586 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) AGGACACAGACGCAAAGAGAA 0.672 SAMSN1 64092 broad.mit.edu 37 21 15889263 15889263 + Missense_Mutation SNP T T C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr21:15889263T>C uc002yju.1 - 2 311 c.229A>G c.(229-231)Atg>Gtg p.M77V SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.M145V NM_022136 NP_071419 Q9NSI8 SAMN1_HUMAN Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA. 77 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) TTTTTCTTCATTGTCCATGAA 0.338 CAND2 23066 broad.mit.edu 37 3 12858462 12858462 + Silent SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr3:12858462C>T uc003bxk.2 + 9 2080 c.2031C>T c.(2029-2031)gaC>gaT p.D677D CAND2_uc003bxj.2_Silent_p.D584D NM_001162499 NP_001155971 O75155 CAND2_HUMAN Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA. 677 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.D584D(2) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CAGCCCTGGACGCCCTGGCCC 0.662 SCN10A 6336 broad.mit.edu 37 3 38748876 38748876 + Splice_Site SNP T T C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr3:38748876T>C uc003ciq.3 - 25 4282 c.4282_splice c.e25-1 p.L1428_splice NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1428 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GCCCCCTAAGTGCAGAGAGGG 0.512 PCOLCE2 26577 broad.mit.edu 37 3 142557612 142557612 + Missense_Mutation SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr3:142557612G>A uc003evd.3 - 5 1017 c.710_splice c.e5+1 p.A237_splice NM_013363 NP_037495 Q9UKZ9 PCOC2_HUMAN Homo sapiens procollagen C-endopeptidase enhancer 2 (PCOLCE2), mRNA. 237 CUB 2. extracellular region collagen binding|heparin binding|peptidase activator activity NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 32 TGCTACTTACGCAGGTGGACT 0.378 GPR78 27201 broad.mit.edu 37 4 8582980 8582980 + Missense_Mutation SNP T T C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr4:8582980T>C uc003glk.3 + 0 764 c.271T>C c.(271-273)Tcc>Ccc p.S91P GPR78_uc021xlj.1_Intron|CPZ_uc003gll.3_Non-coding_Transcript NM_080819 NP_543009 Q96P69 GPR78_HUMAN Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA. 91 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 CTTCCTGGCGTCCAACGCGGC 0.706 NCAPG 64151 broad.mit.edu 37 4 17816578 17816578 + Missense_Mutation SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr4:17816578G>A uc003gpp.3 + 3 823 c.647G>A c.(646-648)cGc>cAc p.R216H NCAPG_uc011bxj.2_5'UTR NM_022346 NP_071741 Q9BPX3 CND3_HUMAN Homo sapiens non-SMC condensin I complex, subunit G (NCAPG), mRNA. 216 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 27 STAD - Stomach adenocarcinoma(129;0.18) ATTGTAGGGCGCACCAAGGAT 0.398 LGI2 55203 broad.mit.edu 37 4 25014103 25014103 + Missense_Mutation SNP G G T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr4:25014103G>T uc003grf.2 - 6 773 c.674C>A c.(673-675)aCt>aAt p.T225N NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA. 225 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) GTAGGGTAAAGTCTGATGAAC 0.473 GABRG1 2565 broad.mit.edu 37 4 46043100 46043100 + Missense_Mutation SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr4:46043100G>A uc003gxb.3 - 8 1455 c.1303C>T c.(1303-1305)Cgc>Tgc p.R435C NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA. 435 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.R435C(4) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TTGGCAATGCGTATGTGTATC 0.403 UGT2B4 7363 broad.mit.edu 37 4 70361563 70361563 + Missense_Mutation SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr4:70361563G>A uc003hek.4 - 0 64 c.17C>T c.(16-18)aCt>aTt p.T6I UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Missense_Mutation_p.T6I NM_021139 NP_066962 P06133 UD2B4_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA. 6 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 AAGAGCTGAAGTCCATTTCAT 0.443 PF4 5196 broad.mit.edu 37 4 74847163 74847163 + Silent SNP G G A rs144253863 TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr4:74847163G>A uc003hhi.2 - 1 234 c.189C>T c.(187-189)gcC>gcT p.A63A NM_002619 NP_002610 P02776 PLF4_HUMAN Homo sapiens platelet factor 4 (PF4), mRNA. 63 cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production extracellular space|platelet alpha granule lumen chemokine activity|heparin binding kidney(1)|lung(1) 2 Breast(15;0.00136) all cancers(17;0.0034)|Lung(101;0.196) Drotrecogin alfa(DB00055) AGTGGGGTCCGGCCTTGATCA 0.612 MEPE 56955 broad.mit.edu 37 4 88766796 88766796 + Missense_Mutation SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr4:88766796G>A uc021xpx.1 + 3 881 c.869G>A c.(868-870)gGc>gAc p.G290D MEPE_uc021xpu.1_Missense_Mutation_p.G259D|MEPE_uc021xpv.1_Missense_Mutation_p.G146D|MEPE_uc021xpw.1_Missense_Mutation_p.G146D|MEPE_uc010ikn.3_Missense_Mutation_p.G146D|MEPE_uc003hqy.3_Missense_Mutation_p.G259D|MEPE_uc021xpy.1_Missense_Mutation_p.G146D NM_001184697 NP_001171626 Q9NQ76 MEPE_HUMAN Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA. 259 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) AGTGGGGACGGCCAACCTTTT 0.453 FAM13A 10144 broad.mit.edu 37 4 89668975 89668975 + Missense_Mutation SNP T T C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr4:89668975T>C uc003hse.1 - 17 2397 c.2189A>G c.(2188-2190)gAc>gGc p.D730G FAM13A_uc003hsa.1_Missense_Mutation_p.D201G|FAM13A_uc003hsb.1_Missense_Mutation_p.D404G|FAM13A_uc003hsd.1_Missense_Mutation_p.D404G|FAM13A_uc003hsc.1_Missense_Mutation_p.D390G|FAM13A_uc011cdq.1_Missense_Mutation_p.D376G|FAM13A_uc003hsf.1_Missense_Mutation_p.D316G|FAM13A_uc003hsg.1_Missense_Mutation_p.D201G NM_014883 NP_055698 O94988 FA13A_HUMAN Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA. 730 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 GGGAGTTAGGTCCTCTTCAGA 0.398 CDH18 1016 broad.mit.edu 37 5 19747074 19747074 + Missense_Mutation SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr5:19747074G>A uc003jgd.3 - 3 1034 c.500C>T c.(499-501)aCt>aTt p.T167I CDH18_uc011cnm.2_Missense_Mutation_p.T167I|CDH18_uc003jgc.3_Missense_Mutation_p.T167I|CDH18_uc021xwu.1_Missense_Mutation_p.T167I NM_004934 NP_004925 Q13634 CAD18_HUMAN Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA. 167 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.V166A(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TTCAGGCACAGTAACAATGTA 0.338 HEATR7B2 133558 broad.mit.edu 37 5 41012778 41012778 + Silent SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr5:41012778G>A uc003jmj.4 - 29 3532 c.3042C>T c.(3040-3042)gaC>gaT p.D1014D HEATR7B2_uc003jmi.4_Silent_p.D569D NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 1014 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 TCTCCAGACCGTCCAGCATTT 0.478 TTC37 9652 broad.mit.edu 37 5 94834176 94834176 + Missense_Mutation SNP T T A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr5:94834176T>A uc003klb.3 - 32 3758 c.3461A>T c.(3460-3462)cAc>cTc p.H1154L NM_014639 NP_055454 Q6PGP7 TTC37_HUMAN Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA. 1154 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 ACTGTCTTTGTGTTTGATGTG 0.448 SPOCK1 6695 broad.mit.edu 37 5 136476318 136476318 + Nonsense_Mutation SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr5:136476318G>A uc003lbo.3 - 2 489 c.298C>T c.(298-300)Cag>Tag p.Q100* SPOCK1_uc003lbp.3_Nonsense_Mutation_p.Q100* NM_004598 NP_004589 Q08629 TICN1_HUMAN Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA. 100 cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGGTAGTCCTGGGTCACACAC 0.617 GTF2H4 2968 broad.mit.edu 37 6 30876944 30876944 + Missense_Mutation SNP T T G TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr6:30876944T>G uc003nsa.1 + 1 338 c.131T>G c.(130-132)gTc>gGc p.V44G GTF2H4_uc010jsf.2_Missense_Mutation_p.V44G|GTF2H4_uc011dmv.1_Intron NM_001517 NP_001508 Q92759 TF2H4_HUMAN Homo sapiens general transcription factor IIH, polypeptide 4, 52kDa (GTF2H4), mRNA. 44 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 TGTCTGGCTGTCTTCAGGTGA 0.527 Nucleotide excision repair (NER) Unknown 653639 broad.mit.edu 37 6 33333333 33333333 + Missense_Mutation SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr6:33333333G>A DAXX (42540 upstream) : KIFC1 (25980 downstream) AGTTAGACAGGAGGCAGCAGC 0.577 Unknown 653639 broad.mit.edu 37 6 33333342 33333342 + Silent SNP G G A rs140475230 by1000genomes TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr6:33333342G>A DAXX (42549 upstream) : KIFC1 (25971 downstream) GGAGGCAGCAGCTTCTCAAGA 0.562 AARS2 57505 broad.mit.edu 37 6 44268962 44268962 + Silent SNP G G C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr6:44268962G>C uc010jza.1 - 20 2727 c.2724C>G c.(2722-2724)ccC>ccG p.P908P TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron NM_020745 NP_065796 Q5JTZ9 SYAM_HUMAN Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA. 908 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) CAGACGTGCTGGGGGCCTGCT 0.647 LGSN 51557 broad.mit.edu 37 6 63991036 63991036 + Silent SNP G G T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr6:63991036G>T uc003peh.3 - 3 454 c.420C>A c.(418-420)gcC>gcA p.A140A LGSN_uc003pei.3_Silent_p.A140A NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA. 140 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) TAAAACATGTGGCTCTTATGT 0.408 SLC22A2 6582 broad.mit.edu 37 6 160679391 160679391 + Silent SNP C C T rs112210325 byFrequency TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr6:160679391C>T uc003qtf.3 - 0 573 c.399G>A c.(397-399)tcG>tcA p.S133S SLC22A2_uc003qth.2_Silent_p.S133S NM_003058 NP_003049 O15244 S22A2_HUMAN Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA. 133 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) TGACGATGGACGAGCCAGGCG 0.627 MLLT4 4301 broad.mit.edu 37 6 168317900 168317900 + Frame_Shift_Del DEL T T - TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr6:168317900delT uc021zik.1 + 18 2872 c.2553delT c.(2551-2553)cctfs p.P851fs MLLT4_uc003qwb.1_Frame_Shift_Del_p.P876fs|MLLT4_uc003qwc.2_Frame_Shift_Del_p.P892fs|MLLT4_uc021zij.1_Frame_Shift_Del_p.P876fs|MLLT4_uc021zim.1_Frame_Shift_Del_p.P438fs|MLLT4_uc003qwg.1_Frame_Shift_Del_p.P201fs NM_001040000 NP_001035089 P55196 AFAD_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA. 892 Dilute. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) CTGATGAGCCTTTTATCCCAA 0.398 T MLL AL MAD1L1 8379 broad.mit.edu 37 7 2269722 2269722 + Missense_Mutation SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr7:2269722G>A uc003slh.1 - 2 313 c.47C>T c.(46-48)tCt>tTt p.S16F MAD1L1_uc003slf.1_Missense_Mutation_p.S16F|MAD1L1_uc003slg.1_Missense_Mutation_p.S16F|MAD1L1_uc010ksh.1_Missense_Mutation_p.S16F|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Missense_Mutation_p.S16F|MAD1L1_uc010ksj.3_Missense_Mutation_p.S16F NM_001013836 NP_003541 Q9Y6D9 MD1L1_HUMAN Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA. 16 cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5) 36 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) GTTGTTCAAAGATCTCAGGGT 0.537 SDK1 221935 broad.mit.edu 37 7 4009042 4009042 + Missense_Mutation SNP C C T rs145189416 TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr7:4009042C>T uc003smx.3 + 10 1839 c.1700C>T c.(1699-1701)aCg>aTg p.T567M NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA. 567 Ig-like C2-type 5. cell adhesion integral to membrane p.T567T(1) NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GCATCGGCCACGCTCACTGTG 0.587 POM121L12 285877 broad.mit.edu 37 7 53103741 53103741 + Missense_Mutation SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr7:53103741G>A uc003tpz.3 + 0 393 c.377G>A c.(376-378)cGt>cAt p.R126H NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 126 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GGGCTGTGTCGTGCCTGGAAC 0.701 DGKI 9162 broad.mit.edu 37 7 137363356 137363356 + Missense_Mutation SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr7:137363356C>T uc003vtt.3 - 2 554 c.553G>A c.(553-555)Gtc>Atc p.V185I DGKI_uc003vtu.3_5'UTR NM_004717 NP_004708 O75912 DGKI_HUMAN Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA. 185 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 TCTCCCGAGACGTTGGTCTCC 0.507 HTR5A 3361 broad.mit.edu 37 7 154863096 154863096 + Missense_Mutation SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr7:154863096G>A uc003wlu.1 + 0 551 c.487G>A c.(487-489)Gcg>Acg p.A163T LOC100128264_uc003wlt.2_5'UTR|LOC100128264_uc011kvt.1_5'UTR NM_024012 NP_076917 P47898 5HT5A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA. 163 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) CGTCATGATCGCGCTCACCTG 0.627 EN2 2020 broad.mit.edu 37 7 155251752 155251752 + Missense_Mutation SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr7:155251752C>T uc003wmb.3 + 0 929 c.680C>T c.(679-681)tCt>tTt p.S227F NM_001427 NP_001418 P19622 HME2_HUMAN Homo sapiens engrailed homeobox 2 (EN2), mRNA. 227 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(1)|lung(2) 4 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GACCGGCCTTCTTCAGGTGAG 0.726 LMBR1 64327 broad.mit.edu 37 7 156521400 156521400 + Missense_Mutation SNP C C G TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr7:156521400C>G uc010lqn.3 - 11 1191 c.976G>C c.(976-978)Gct>Cct p.A326P LMBR1_uc003wmv.4_Missense_Mutation_p.A133P|LMBR1_uc003wmw.4_Missense_Mutation_p.A285P|LMBR1_uc003wmx.4_Missense_Mutation_p.A133P|LMBR1_uc011kvx.2_Missense_Mutation_p.A264P NM_022458 NP_071903 Q8WVP7 LMBR1_HUMAN Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA. 285 integral to membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 18 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.208) CATGCTGAAGCCTTTTTTCGC 0.299 TUSC3 7991 broad.mit.edu 37 8 15508246 15508246 + Missense_Mutation SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr8:15508246C>T uc003wwt.3 + 2 693 c.349C>T c.(349-351)Cgc>Tgc p.R117C TUSC3_uc003wwu.3_Missense_Mutation_p.R117C NM_006765 NP_006756 Q13454 TUSC3_HUMAN Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA. 117 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex p.R117C(2)|p.R117H(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2) 28 Colorectal(111;0.113) GAACTCCTGGCGCTATTCATC 0.398 MSR1 4481 broad.mit.edu 37 8 16021625 16021625 + Missense_Mutation SNP G G C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr8:16021625G>C uc010lsu.3 - 4 884 c.820C>G c.(820-822)Ctg>Gtg p.L274V MSR1_uc003wwz.3_Missense_Mutation_p.L256V|MSR1_uc003wxa.3_Missense_Mutation_p.L256V|MSR1_uc003wxb.3_Missense_Mutation_p.L256V|MSR1_uc011kxz.2_Missense_Mutation_p.L30V NM_138715 NP_619729 P21757 MSRE_HUMAN Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA. 256 Collagen-like. cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CAATCTTTCAGTCTGAGATCA 0.308 EFCAB1 79645 broad.mit.edu 37 8 49643175 49643175 + Silent SNP A A G TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr8:49643175A>G uc003xqo.2 - 2 403 c.243T>C c.(241-243)gaT>gaC p.D81D EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Silent_p.D29D|EFCAB1_uc010lxx.2_Non-coding_Transcript|EFCAB1_uc011ldk.1_Non-coding_Transcript NM_024593 NP_078869 Q9HAE3 EFCB1_HUMAN Homo sapiens EF-hand calcium binding domain 1 (EFCAB1), transcript variant 1, mRNA. 81 EF-hand 1. calcium ion binding endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2) 14 all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464) TTACACAGCCATCATTATCTT 0.368 COLEC10 10584 broad.mit.edu 37 8 120118082 120118082 + Silent SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr8:120118082C>T uc003yoo.3 + 5 583 c.486C>T c.(484-486)atC>atT p.I162I NM_006438 NP_006429 Q9Y6Z7 COL10_HUMAN Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA. 162 C-type lectin. collagen|cytoplasm mannose binding endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00113) TCTACTACATCGTGCAGGAAG 0.458 CYP11B1 1584 broad.mit.edu 37 8 143956451 143956451 + Silent SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr8:143956451G>A uc010mey.3 - 9 1540 c.1533C>T c.(1531-1533)caC>caT p.H511H CYP11B1_uc010mex.3_Silent_p.H139H|CYP11B1_uc003yxh.3_Intron|CYP11B1_uc003yxi.3_Silent_p.H440H|CYP11B1_uc003yxj.3_Intron NM_000497 NP_000488 P15538 C11B1_HUMAN Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 440 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) CAAAGGGCACGTGGTAGAAGT 0.652 Familial Hyperaldosteronism type I TAF1L 138474 broad.mit.edu 37 9 32633905 32633905 + Missense_Mutation SNP C C A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr9:32633905C>A uc003zrg.1 - 0 1763 c.1673G>T c.(1672-1674)cGa>cTa p.R558L AX747113_uc003zrh.1_Non-coding_Transcript NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA. 558 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CAAGAGAATTCGACTCTTCTT 0.458 NOL6 65083 broad.mit.edu 37 9 33465223 33465223 + Missense_Mutation SNP T T C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr9:33465223T>C uc003zsz.3 - 19 2764 c.2663A>G c.(2662-2664)gAg>gGg p.E888G NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Intron|NOL6_uc010mjv.3_Missense_Mutation_p.E885G|NOL6_uc011lob.2_Missense_Mutation_p.E836G|NOL6_uc003ztb.1_Missense_Mutation_p.E888G NM_022917 NP_075068 Q9H6R4 NOL6_HUMAN Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA. 888 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) GGTGAAGGGCTCAGGGTGCAG 0.602 TRPM3 80036 broad.mit.edu 37 9 73167906 73167906 + Missense_Mutation SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr9:73167906C>T uc004aid.3 - 22 3636 c.3392G>A c.(3391-3393)aGg>aAg p.R1131K TRPM3_uc004ahu.3_Missense_Mutation_p.R973K|TRPM3_uc004ahv.3_Missense_Mutation_p.R933K|TRPM3_uc004ahw.3_Missense_Mutation_p.R1003K|TRPM3_uc004ahx.3_Missense_Mutation_p.R990K|TRPM3_uc004ahy.3_Missense_Mutation_p.R993K|TRPM3_uc004ahz.3_Missense_Mutation_p.R980K|TRPM3_uc004aia.3_Missense_Mutation_p.R978K|TRPM3_uc004aib.3_Missense_Mutation_p.R968K|TRPM3_uc004aic.3_Missense_Mutation_p.R1131K NM_001007471 NP_066003 Q9HCF6 TRPM3_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA. 1156 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 GAGCTGATACCTCTGAAACTT 0.423 IKBKAP 8518 broad.mit.edu 37 9 111658909 111658909 + Missense_Mutation SNP T T A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr9:111658909T>A uc004bdm.4 - 24 3123 c.2603A>T c.(2602-2604)gAt>gTt p.D868V IKBKAP_uc004bdl.3_Missense_Mutation_p.D519V|IKBKAP_uc011lwc.2_Missense_Mutation_p.D754V|IKBKAP_uc010mtq.3_Missense_Mutation_p.D519V NM_003640 NP_003631 O95163 ELP1_HUMAN Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA. 868 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 AGCATCAGGATCAGAGGGAGC 0.368 SPTAN1 6709 broad.mit.edu 37 9 131371470 131371470 + Missense_Mutation SNP G G C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr9:131371470G>C uc004bvl.4 + 35 4807 c.4665G>C c.(4663-4665)caG>caC p.Q1555H SPTAN1_uc004bvm.4_Missense_Mutation_p.Q1555H|SPTAN1_uc004bvn.4_Missense_Mutation_p.Q1535H NM_003127 NP_003118 Q13813 SPTA2_HUMAN Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA. 1555 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 CCCTCCAACAGTTCAGCCGGG 0.473 LHX3 8022 broad.mit.edu 37 9 139092592 139092592 + Silent SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr9:139092592C>T uc004cgz.3 - 1 221 c.102G>A c.(100-102)ccG>ccA p.P34P LHX3_uc022bpm.1_5'UTR|LHX3_uc004cha.3_Silent_p.P29P NM_014564 NP_055379 Q9UBR4 LHX3_HUMAN Homo sapiens LIM homeobox 3 (LHX3), transcript variant 2, mRNA. 29 LIM zinc-binding 1. C -> R (in Ref. 2; AAF17291). 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 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) CAGCGCACAGCGGGATCTCTG 0.632 PCYT1B 9468 broad.mit.edu 37 X 24580418 24580418 + Missense_Mutation SNP C C G TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chrX:24580418C>G uc004dbi.3 - 7 1335 c.1102G>C c.(1102-1104)Gaa>Caa p.E368Q PCYT1B_uc004dbk.4_Intron|PCYT1B_uc004dbj.3_Missense_Mutation_p.E350Q NM_004845 NP_004836 Q9Y5K3 PCY1B_HUMAN Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 1, mRNA. 368 endoplasmic reticulum choline-phosphate cytidylyltransferase activity p.E368G(1) breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 17 Choline(DB00122) CTCTACTTTTCATCCTCATCC 0.577 DMD 1756 broad.mit.edu 37 X 32563337 32563337 + Missense_Mutation SNP G G T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chrX:32563337G>T uc004dda.1 - 16 2351 c.2107C>A c.(2107-2109)Ctt>Att p.L703I DMD_uc004dcz.2_Missense_Mutation_p.L580I|DMD_uc004dcy.1_Missense_Mutation_p.L699I|DMD_uc004ddb.1_Missense_Mutation_p.L695I|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Missense_Mutation_p.L695I NM_004006 NP_004001 P11532 DMD_HUMAN Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. 703 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GGTGGTGGAAGTTCCTCTTGA 0.448 CXorf22 170063 broad.mit.edu 37 X 35989828 35989828 + Missense_Mutation SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chrX:35989828C>T uc004ddj.3 + 11 2162 c.2096C>T c.(2095-2097)gCg>gTg p.A699V CXorf22_uc010ngv.3_Non-coding_Transcript NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA. 699 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 TCAATTAGAGCGAATCGATTG 0.448 THOC2 57187 broad.mit.edu 37 X 122799597 122799597 + Missense_Mutation SNP T T C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chrX:122799597T>C uc004etu.3 - 11 1314 c.1282A>G c.(1282-1284)Agg>Ggg p.R428G THOC2_uc011muh.1_Missense_Mutation_p.R349G|THOC2_uc011mui.1_Missense_Mutation_p.R313G NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN Homo sapiens THO complex 2 (THOC2), mRNA. 428 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 ACGTCTCTCCTCAAATCTTCA 0.403