Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ULK3 25989 broad.mit.edu 37 15 75134762 75134762 + Splice_Site SNP C C G TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr15:75134762C>G ENST00000440863.2 - 2 194 c.e2-1 ULK3_ENST00000569437.1_Splice_Site|ULK3_ENST00000568667.1_Splice_Site NM_001099436.1 NP_001092906.1 Q6PHR2 ULK3_HUMAN unc-51 like kinase 3 cytoplasm ATP binding|protein serine/threonine kinase activity breast(2) 2 GAGTGTCCTTCTGCGAGACAG 0.557000 65 168 0 0 1 0 0 ZNF419 79744 broad.mit.edu 37 19 58005274 58005274 + Missense_Mutation SNP T T C TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr19:58005274T>C ENST00000424930.2 + 5 1581 c.1352T>C c.(1351-1353)aTt>aCt p.I451T ZNF419_ENST00000221735.7_Missense_Mutation_p.I450T|ZNF419_ENST00000442920.2_Missense_Mutation_p.I437T|ZNF419_ENST00000354197.4_Intron|ZNF419_ENST00000415379.2_Missense_Mutation_p.I404T|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000426954.2_Missense_Mutation_p.I438T|ZNF419_ENST00000347466.6_Missense_Mutation_p.I418T NM_001098491.1|NM_024691.3 NP_001091961.1|NP_078967.3 Q96HQ0 ZN419_HUMAN zinc finger protein 419 450 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171) AAAGTTCACATTGGAGAAAAG 0.428000 3 139 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138584107 138584107 + Missense_Mutation SNP G G A TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr6:138584107G>A ENST00000251691.4 + 12 1653 c.1487G>A c.(1486-1488)gGg>gAg p.G496E NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 496 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) TGGGAGTCAGGGAACGAGAGG 0.592000 3 3 0 0 1 0 0 MT-ND5 4540 broad.mit.edu 37 MT 12730 12730 + Missense_Mutation SNP G G A TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chrM:12730G>A ENST00000361567.2 + 1 394 c.394G>A c.(394-396)Gtt>Att p.V132I P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 132 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) TACTAATCTTAGTTACCGCTA 0.393000 9 7 0 0 1 0 0 MAATS1 89876 broad.mit.edu 37 3 119462867 119462867 + Silent SNP C C T TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr3:119462867C>T ENST00000273390.5 + 14 1803 c.1726C>T c.(1726-1728)Cta>Tta p.L576L NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 AGGAAGGGCACTAGCAGACAT 0.488000 54 60 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149482073 149482073 + RNA SNP G G T TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr7:149482073G>T ENST00000378016.2 + 0 2861 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity p.A290S(1) Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AGTACTGATGGCTGTGTCTGT 0.627000 4 18 1.23904e-05 1.39789e-05 1 1 0 DCX 1641 broad.mit.edu 37 X 110654079 110654079 + Missense_Mutation SNP A A C TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chrX:110654079A>C ENST00000338081.3 - 1 295 c.124T>G c.(124-126)Tca>Gca p.S42A DCX_ENST00000356915.2_Intron|DCX_ENST00000356220.3_Intron|DCX_ENST00000496551.1_Intron|DCX_ENST00000371993.2_Intron|DCX_ENST00000488120.1_Intron NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 42 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 GTTGTAAATGAATCCATAGCC 0.423000 7 174 0 0 1 0 0 DTX1 1840 broad.mit.edu 37 12 113533162 113533162 + Missense_Mutation SNP C C A TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr12:113533162C>A ENST00000257600.3 + 8 2084 c.1581C>A c.(1579-1581)ttC>ttA p.F527L DTX1_ENST00000547974.1_3'UTR NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 527 negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 GGAAGAAGTTCACCGCAAGAG 0.597000 5 173 1 1 1 1 0 BCAM 4059 broad.mit.edu 37 19 45317503 45317503 + Silent SNP G G A TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr19:45317503G>A ENST00000391955.1 + 7 923 c.879G>A c.(877-879)ggG>ggA p.G293G BCAM_ENST00000270233.6_Silent_p.G293G P50895 BCAM_HUMAN basal cell adhesion molecule (Lutheran blood group) 293 Ig-like C2-type 1. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) TCTGCCGGGGGGACGGCAGCC 0.672000 83 82 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145328378 145328378 + Missense_Mutation SNP T T C TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr1:145328378T>C ENST00000342960.5 + 33 4261 c.4226T>C c.(4225-4227)aTt>aCt p.I1409T NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 1409 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) ATTGCAGGAATTAAAAAGGAC 0.463000 3 51 0 0 1 0 0 ABCB7 22 broad.mit.edu 37 X 74296488 74296488 + Splice_Site SNP G G A TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chrX:74296488G>A ENST00000253577.3 - 5 482 c.456_splice c.e5-1 p.A153_splice ABCB7_ENST00000373394.3_Splice_Site_p.A152_splice|ABCB7_ENST00000339447.4_Splice_Site_p.A112_splice NM_001271696.1|NM_004299.3 NP_001258625.1|NP_004290.2 O75027 ABCB7_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 7 152 ABC transmembrane type-1. cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1) 20 AATATTCATGGCCTAAAAACA 0.318000 3 35 0 0 1 0 0 ZNF185 7739 broad.mit.edu 37 X 152087589 152087589 + Missense_Mutation SNP A A T TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chrX:152087589A>T ENST00000535861.1 + 7 542 c.494A>T c.(493-495)gAg>gTg p.E165V ZNF185_ENST00000370268.4_Missense_Mutation_p.E165V|ZNF185_ENST00000318529.8_Missense_Mutation_p.E30V|ZNF185_ENST00000539731.1_Missense_Mutation_p.E165V|ZNF185_ENST00000449285.2_Missense_Mutation_p.E165V|ZNF185_ENST00000370270.1_Missense_Mutation_p.E25V|ZNF185_ENST00000318504.7_Missense_Mutation_p.E165V|ZNF185_ENST00000324823.6_Missense_Mutation_p.E30V NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 165 Poly-Glu. cytoplasm|cytoskeleton|focal adhesion zinc ion binding p.E25V(1)|p.E165V(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) gaggaggaggaggTGGTGCCA 0.582000 3 49 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 9 120 0 0 1 0 0 OR52N2 390077 broad.mit.edu 37 11 5841775 5841775 + Missense_Mutation SNP C C G TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr11:5841775C>G ENST00000317037.2 + 1 232 c.210C>G c.(208-210)ttC>ttG p.F70L TRIM5_ENST00000380027.1_Intron NM_001005174.1 NP_001005174.1 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, member 2 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F70F(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCTCTCCTTCACTGATGTCA 0.537000 3 203 0 0 1 0 0 GJA4 2701 broad.mit.edu 37 1 35260771 35260771 + Silent SNP C C G TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr1:35260771C>G ENST00000342280.4 + 2 1045 c.957C>G c.(955-957)ccC>ccG p.P319P NM_002060.2 NP_002051.2 P35212 CXA4_HUMAN gap junction protein, alpha 4, 37kDa 319 P -> S (in allele CX37*2; dbSNP:rs1764391). cell-cell junction assembly integral to plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1) 14 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) GCCAAAAACCCCCAAGTCGTC 0.587000 13 51 0 0 1 0 0 BDH1 622 broad.mit.edu 37 3 197238954 197238954 + Missense_Mutation SNP C C T rs145598252 TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr3:197238954C>T ENST00000392379.1 - 8 1245 c.844G>A c.(844-846)Gcc>Acc p.A282T BDH1_ENST00000392378.2_Missense_Mutation_p.A282T|BDH1_ENST00000358186.2_Missense_Mutation_p.A282T|BDH1_ENST00000441275.1_Missense_Mutation_p.A195T NM_203314.2 NP_976059.1 Q02338 BDH_HUMAN 3-hydroxybutyrate dehydrogenase, type 1 282 cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix 3-hydroxybutyrate dehydrogenase activity endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437) Lung NSC(153;0.118) Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06) GBM - Glioblastoma multiforme(93;0.0977) NADH(DB00157) TCCATCTTGGCGATCTTTTCA 0.582000 71 107 0 0 1 0 0 MT-CYB 4519 broad.mit.edu 37 MT 15045 15045 + Missense_Mutation SNP G G A TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chrM:15045G>A ENST00000361789.2 + 1 299 c.299G>A c.(298-300)cGa>cAa p.100_100insQ mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 ACACATCGGGCGAGGCCTATA 0.473000 15 1 0 0 1 0 0 SEC61A1 29927 broad.mit.edu 37 3 127779461 127779461 + Silent SNP C C A TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr3:127779461C>A ENST00000243253.3 + 7 757 c.573C>A c.(571-573)atC>atA p.I191I SEC61A1_ENST00000424880.2_Silent_p.I71I|SEC61A1_ENST00000464451.1_Silent_p.I197I NM_013336.3 NP_037468.1 P61619 S61A1_HUMAN Sec61 alpha 1 subunit (S. cerevisiae) 191 protein targeting to ER integral to endoplasmic reticulum membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4) 21 GTGAAACCATCGTATGGAAGG 0.478000 3 58 1 1 1 1 0 SNHG14 0 broad.mit.edu 37 15 25463651 25463651 + RNA SNP T T A TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr15:25463651T>A ENST00000424208.1 + 0 2934 SNHG14_ENST00000453082.2_RNA NR_003305.1 TGCTCAGCCATCGGTGCGCTG 0.592000 3 36 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152082220 152082220 + Missense_Mutation SNP G G C rs113946258 TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr1:152082220G>C ENST00000368804.1 - 2 3472 c.3473C>G c.(3472-3474)cCg>cGg p.P1158R NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1158 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTCTTCTCCGGTTCCTCTCT 0.592000 3 71 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52529700 52529700 + Missense_Mutation SNP T T A TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr15:52529700T>A ENST00000261839.7 - 22 3008 c.2847A>T c.(2845-2847)agA>agT p.R949S MYO5C_ENST00000443683.2_3'UTR NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 949 myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) CATCCCTGTATCTCTTCCCCT 0.512000 5 467 0 0 1 0 0 LRRC36 55282 broad.mit.edu 37 16 67401213 67401213 + Missense_Mutation SNP A A G TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr16:67401213A>G ENST00000329956.6 + 8 1067 c.1048A>G c.(1048-1050)Agg>Ggg p.R350G LRRC36_ENST00000290940.7_Missense_Mutation_p.R82G|LRRC36_ENST00000563189.1_Missense_Mutation_p.R229G|LRRC36_ENST00000435835.3_Missense_Mutation_p.R229G|LRRC36_ENST00000541146.1_Intron NM_018296.5 NP_060766.5 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 350 endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) TCTTGGTAAAAGGCCTCAGAG 0.403000 3 122 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 145021242 145021242 + Missense_Mutation SNP G G T TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr6:145021242G>T ENST00000367545.3 + 52 7672 c.7672G>T c.(7672-7674)Gct>Tct p.A2558S UTRN_ENST00000367526.4_Missense_Mutation_p.A113S NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 2558 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GGAGGCCAGCGCTGAGAAGTG 0.373000 3 54 0.150653 0.157827 1 1 0 CCDC15 80071 broad.mit.edu 37 11 124857562 124857562 + Silent SNP A A G TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr11:124857562A>G ENST00000529051.1 + 8 1699 c.1440A>G c.(1438-1440)ttA>ttG p.L480L CCDC15_ENST00000344762.5_Silent_p.L480L Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 480 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) AGAATTTTTTATCTAGAGACC 0.408000 3 88 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) 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) atcaaagaaggaaagaagaag 0.423000 4 28 0 0 1 0 0 FAM86A 196483 broad.mit.edu 37 16 5139209 5139209 + Missense_Mutation SNP C C T TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr16:5139209C>T ENST00000427587.4 - 7 859 c.791G>A c.(790-792)cGg>cAg p.R264Q FAM86A_ENST00000458008.4_Missense_Mutation_p.R230Q|FAM86A_ENST00000587133.1_Missense_Mutation_p.R203Q NM_201400.2 NP_958802.1 Q96G04 FA86A_HUMAN family with sequence similarity 86, member A 264 endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 12 AGCCAGCCTCCGCAGGACCCC 0.607000 4 93 0 0 1 0 0 SOX14 8403 broad.mit.edu 37 3 137484265 137484265 + Silent SNP G G A TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr3:137484265G>A ENST00000306087.1 + 1 687 c.639G>A c.(637-639)caG>caA p.Q213Q NM_004189.3 NP_004180.1 O95416 SOX14_HUMAN SRY (sex determining region Y)-box 14 213 negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent nucleus sequence-specific DNA binding large_intestine(2)|lung(12) 14 CCACCCTGCAGCCCCCCGTCG 0.657000 4 72 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810766 7810766 + Missense_Mutation SNP C C T TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr19:7810766C>T ENST00000315599.7 - 4 408 c.386G>A c.(385-387)cGg>cAg p.R129Q CD209_ENST00000354397.6_Missense_Mutation_p.R129Q|CD209_ENST00000315591.8_Missense_Mutation_p.R105Q|CD209_ENST00000301357.8_Missense_Mutation_p.R85Q|CD209_ENST00000601951.1_Missense_Mutation_p.R105Q|CD209_ENST00000601256.1_Missense_Mutation_p.R105Q|CD209_ENST00000602261.1_Missense_Mutation_p.R129Q|CD209_ENST00000593821.1_Missense_Mutation_p.R85Q|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000593660.1_Missense_Mutation_p.R105Q|CD209_ENST00000204801.8_Missense_Mutation_p.R85Q NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 129 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 AGCCTTCAGCCGGGTCAGCTC 0.567000 4 229 0 0 1 0 0 PODXL2 50512 broad.mit.edu 37 3 127379384 127379384 + Silent SNP G G A TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr3:127379384G>A ENST00000342480.6 + 3 552 c.513G>A c.(511-513)gaG>gaA p.E171E NM_015720.2 NP_056535.1 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 171 Glu-rich. leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 26 aggaagaggaggagagggaga 0.557000 3 71 0 0 1 0 0 RAVER1 125950 broad.mit.edu 37 19 10431412 10431412 + Silent SNP G G A TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr19:10431412G>A ENST00000293677.6 - 9 1821 c.1740C>T c.(1738-1740)tcC>tcT p.S580S NM_133452.2 NP_597709.2 Q8IY67 RAVR1_HUMAN ribonucleoprotein, PTB-binding 1 433 cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) TGAGCAGGCGGGACTTGAGCT 0.697000 3 19 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 26 44 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165952089 165952089 + Missense_Mutation SNP C C A TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr2:165952089C>A ENST00000360093.3 - 25 4854 c.4363G>T c.(4363-4365)Ggg>Tgg p.G1455W SCN3A_ENST00000283254.7_Missense_Mutation_p.G1455W|SCN3A_ENST00000409101.3_Missense_Mutation_p.G1406W NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1455 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) AAGAATGACCCAAAGATGATA 0.284000 3 56 0.115264 0.123698 1 1 0 RNF145 153830 broad.mit.edu 37 5 158603839 158603839 + Missense_Mutation SNP A A G TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr5:158603839A>G ENST00000424310.2 - 5 781 c.422T>C c.(421-423)aTg>aCg p.M141T RNF145_ENST00000521606.2_Missense_Mutation_p.M158T|RNF145_ENST00000274542.2_Missense_Mutation_p.M169T|RNF145_ENST00000520638.1_Missense_Mutation_p.M155T|RNF145_ENST00000519865.1_Missense_Mutation_p.M141T|RNF145_ENST00000518802.1_Missense_Mutation_p.M171T NM_001199383.1 NP_001186312.1 Q96MT1 RN145_HUMAN ring finger protein 145 141 integral to membrane zinc ion binding p.M169T(4) endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTTTGTTTTCATGACACAGGA 0.363000 4 30 0 0 1 0 0 TAS2R46 259292 broad.mit.edu 37 12 11214130 11214130 + Missense_Mutation SNP A A G TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr12:11214130A>G ENST00000533467.1 - 1 763 c.764T>C c.(763-765)cTg>cCg p.L255P TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176887.2 NP_795368.2 P59540 T2R46_HUMAN taste receptor, type 2, member 46 255 sensory perception of taste cilium membrane|integral to membrane G-protein coupled receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) TTTGTTTTCCAGACTCTCAAA 0.418000 6 122 0 0 1 0 0 ANKRD44 91526 broad.mit.edu 37 2 197943383 197943384 + Frame_Shift_Del DEL TG TG - TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr2:197943383_197943384delTG ENST00000409153.1 - 16 1875_1876 c.1693_1694delCA c.(1693-1695)tfs p.H565fs ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000450567.1_Intron Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 811 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) ATTTGGGGTATGTGTGTGTGTG 0.411 5 6 --- --- --- --- OTOP1 133060 broad.mit.edu 37 4 4228274 4228282 + In_Frame_Del DEL CCACAGCAG CCACAGCAG - rs111245977 TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr4:4228274_4228282delCCACAGCAG ENST00000296358.4 - 1 334_342 c.310_318delCTGCTGTGG c.(310-318)del p.LLW104del NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 104 biomineral tissue development extracellular space|integral to membrane p.L104_W106delLLW(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ACCACAGCATCCACAGCAGCTGCAGCAGC 0.727 8 59 --- --- --- --- DDX60L 91351 broad.mit.edu 37 4 169325133 169325133 + Splice_Site DEL A A - TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr4:169325133delA ENST00000511577.1 - 25 3585 c.3338_splice c.e25+1 p.L1113_splice DDX60L_ENST00000505890.1_Splice_Site_p.L1113_splice|DDX60L_ENST00000260184.7_Splice_Site_p.L1113_splice Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 1113 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) AGTTACTTACAAAAAAAATAT 0.274 2 4 --- --- --- --- SLC12A7 10723 broad.mit.edu 37 5 1078124 1078125 + Splice_Site INS - - GCAG TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr5:1078124_1078125insGCAG ENST00000264930.5 - 12 1498 c.e12-2 NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) TCCCCGAACCTgcaggcaggcg 0.673 9 10 --- --- --- --- ATXN7L1 222255 broad.mit.edu 37 7 105254802 105254804 + In_Frame_Del DEL GAG GAG - TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr7:105254802_105254804delGAG ENST00000419735.3 - 10 2022_2024 c.1977_1979delCTC c.(1975-1980)tct>tc p.SS659del ATXN7L1_ENST00000388807.4_In_Frame_Del_p.SS319del|ATXN7L1_ENST00000477775.1_In_Frame_Del_p.SS535del NM_020725.1 NP_065776.1 Q9ULK2 AT7L1_HUMAN ataxin 7-like 1 659 Ser-rich. endometrium(1)|large_intestine(4)|lung(5) 10 CTGCAaggaagaggaggaggagg 0.517 3 3 --- --- --- --- FNBP4 23360 broad.mit.edu 37 11 47788664 47788669 + In_Frame_Del DEL GGTGGT GGTGGT - rs59413596 TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr11:47788664_47788669delGGTGGT ENST00000263773.5 - 1 184_189 c.172_177delACCACC c.(172-177)del p.TT58del FNBP4_ENST00000534003.1_5'UTR NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 58 p.T58_T59delTT(3) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 CAGTCACCGCGGTGGTGGTGGTCGTC 0.748 6 13 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738793 102738794 + RNA INS - - T rs35342965 by1000genomes TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr11:102738793_102738794insT ENST00000532855.1 - 0 727_728 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGAGGAACAAGTGGTGCCTAAG 0.416 7 11 --- --- --- --- RP11-148M9.1 0 broad.mit.edu 37 16 80078799 80078800 + RNA INS - - G rs138801428 TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr16:80078799_80078800insG ENST00000565531.1 + 0 133 AGCTAGGGGATGGGGGGGGGGG 0.554 5 1 --- --- --- --- HAP1 9001 broad.mit.edu 37 17 39888235 39888237 + In_Frame_Del DEL CTT CTT - rs150945451 byFrequency TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr17:39888235_39888237delCTT ENST00000393939.2 - 4 857_859 c.848_850delAAG c.(847-852)gca>g p.EA283del JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_In_Frame_Del_p.EA291del|HAP1_ENST00000347901.4_In_Frame_Del_p.EA283del|HAP1_ENST00000310778.5_In_Frame_Del_p.EA283del P54257 HAP1_HUMAN huntingtin-associated protein 1 283 Glu-rich.|HAP1 N-terminal. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) tcttcctctgcttcttcttcttc 0.507 2 4 --- --- --- --- HAUS8 93323 broad.mit.edu 37 19 17160706 17160707 + Frame_Shift_Del DEL GA GA - TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr19:17160706_17160707delGA ENST00000593360.1 - 10 3044_3045 c.1026_1027delTC c.(1024-1029)tcgtfs p.SR342fs HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs Q9BT25 HAUS8_HUMAN HAUS augmin-like complex, subunit 8 403 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 12 CTCCCTGAACGAGAGAGAGAGG 0.495 8 394 --- --- --- --- WDR62 284403 broad.mit.edu 37 19 36583666 36583668 + In_Frame_Del DEL GCA GCA - TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chr19:36583666_36583668delGCA ENST00000401500.2 + 19 2321_2323 c.2286_2288delGCA c.(2284-2289)cgg>cg p.RQ762del WDR62_ENST00000270301.7_In_Frame_Del_p.RQ762del NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 762 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TTGACCACCGGCAGCAGCAGCAG 0.616 7 300 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149937526 149937528 + In_Frame_Del DEL GGC GGC - rs7877654 byFrequency TCGA-J8-A3NZ-01A-11D-A21A-08 TCGA-J8-A3NZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862a2fcb-d576-4e6f-9a5e-fbd57fed25f0 0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2 g.chrX:149937526_149937528delGGC ENST00000370377.3 - 11 885_887 c.768_770delGCC c.(766-771)ccc>cc p.PP256del CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 256 Poly-Pro. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGCTGGTTCGGGCGGCGGCGGCG 0.611 8 453 --- --- --- ---