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 SACS 26278 broad.mit.edu 37 13 23909470 23909470 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr13:23909470G>A ENST00000382298.3 - 10 9133 c.8545C>T c.(8545-8547)Cca>Tca p.P2849S SACS_ENST00000402364.1_Missense_Mutation_p.P2099S|SACS_ENST00000382292.3_Missense_Mutation_p.P2849S NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 2849 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CCACCACGTGGGAAAAGAGTA 0.408000 7 57 0 0 1 0 0 SCGB1A1 7356 broad.mit.edu 37 11 62189870 62189870 + Missense_Mutation SNP T T A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:62189870T>A ENST00000534397.1 + 3 319 c.128T>A c.(127-129)aTt>aAt p.I43N SCGB1A1_ENST00000278282.2_Missense_Mutation_p.I78N|CTD-2531D15.4_ENST00000528983.1_RNA P11684 UTER_HUMAN secretoglobin, family 1A, member 1 (uteroglobin) 78 embryo implantation|signal transduction extracellular region binding|phospholipase A2 inhibitor activity lung(1) 1 GAAAGCATCATTAAGCTCATG 0.527000 16 77 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90502572 90502572 + Missense_Mutation SNP C C T rs145805743 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:90502572C>T ENST00000325643.5 + 4 3236 c.3170C>T c.(3169-3171)tCg>tTg p.S1057L NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 AGGGCAAGTTCGGGAAGTGTT 0.597000 24 86 0 0 1 0 0 SIGLEC6 946 broad.mit.edu 37 19 52034594 52034594 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:52034594C>T ENST00000346477.3 - 2 315 c.247G>A c.(247-249)Gaa>Aaa p.E83K SIGLEC6_ENST00000343300.4_Missense_Mutation_p.E83K|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.E83K|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.E83K|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.E47K|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.E83K NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 83 Ig-like V-type. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) TGCACTTCTTCGTCTGGGTCG 0.582000 19 86 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82387949 82387949 + Missense_Mutation SNP A A C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:82387949A>C ENST00000333891.8 - 25 15708 c.15371T>G c.(15370-15372)cTc>cGc p.L5124R NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 5047 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TCTTTTTCTGAGATCCACTTT 0.378000 32 162 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73066240 73066240 + RNA SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:73066240G>A ENST00000429829.1 - 0 6348 NR_001564.2 GAGGTATGTGGAGAGGACCCT 0.468000 12 20 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142566873 142566873 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:142566873G>A ENST00000392957.2 + 16 3217 c.2430G>A c.(2428-2430)aaG>aaA p.K810K EPHB6_ENST00000442129.1_Silent_p.K810K|EPHB6_ENST00000411471.2_Silent_p.K533K NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 810 Protein kinase. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) TGGTGTGCAAGGTGGCCCGTC 0.642000 20 96 0 0 1 0 0 PTCHD1 139411 broad.mit.edu 37 X 23411555 23411555 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:23411555C>T ENST00000379361.4 + 3 2780 c.1920C>T c.(1918-1920)gtC>gtT p.V640V NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 640 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 ATGATGAGGTCGATGTAGTGG 0.398000 17 34 0 0 1 0 0 WNT2B 7482 broad.mit.edu 37 1 113058942 113058942 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:113058942G>A ENST00000369684.4 + 3 1069 c.584G>A c.(583-585)gGt>gAt p.G195D WNT2B_ENST00000478360.1_3'UTR|WNT2B_ENST00000256640.5_Missense_Mutation_p.G103D|WNT2B_ENST00000369686.4_Missense_Mutation_p.G176D NM_024494.2 NP_078613.1 Q93097 WNT2B_HUMAN wingless-type MMTV integration site family, member 2B 195 chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1) 18 Lung SC(450;0.246) all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ATCCACTACGGTGTCCGTTTT 0.577000 25 95 0 0 1 0 0 TIMD4 91937 broad.mit.edu 37 5 156378601 156378601 + Missense_Mutation SNP T T C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:156378601T>C ENST00000274532.2 - 3 657 c.601A>G c.(601-603)Acc>Gcc p.T201A TIMD4_ENST00000407087.3_Missense_Mutation_p.T201A NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 201 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGCTTGGGGTTAGTGAAAGG 0.542000 13 108 0 0 1 0 0 OR2F2 135948 broad.mit.edu 37 7 143632602 143632602 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:143632602C>T ENST00000408955.2 + 1 344 c.277C>T c.(277-279)Cca>Tca p.P93S NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) TAAAGCCATCCCATTCCAGAG 0.517000 35 202 0 0 1 0 0 SLC26A3 1811 broad.mit.edu 37 7 107423747 107423747 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:107423747C>T ENST00000340010.5 - 9 1206 c.1022G>A c.(1021-1023)gGa>gAa p.G341E SLC26A3_ENST00000422236.2_Missense_Mutation_p.G306E NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 341 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 GAAGCAATCTCCTACGGTGTT 0.423000 22 60 0 0 1 0 0 KIF13A 63971 broad.mit.edu 37 6 17855836 17855836 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:17855836G>A ENST00000378814.5 - 6 325 c.326C>T c.(325-327)tCc>tTc p.S109F KIF13A_ENST00000259711.6_Missense_Mutation_p.S109F|KIF13A_ENST00000378816.5_Missense_Mutation_p.S109F|KIF13A_ENST00000378826.2_Missense_Mutation_p.S109F|KIF13A_ENST00000378843.2_Missense_Mutation_p.S109F NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 109 Kinesin-motor. cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) CATGGAAAAGGATTTTCCCGA 0.463000 3 10 0 0 1 0 0 GBP5 115362 broad.mit.edu 37 1 89732029 89732029 + Splice_Site SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:89732029G>A ENST00000343435.5 - 7 1404 c.868_splice c.e7+1 p.R290_splice GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Splice_Site_p.R290_splice NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 290 plasma membrane GTP binding|GTPase activity breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) TAATACTCACGAGATCCATTG 0.358000 10 36 0 0 1 0 0 SH3RF3 344558 broad.mit.edu 37 2 110259097 110259097 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:110259097C>T ENST00000309415.6 + 10 2498 c.2498C>T c.(2497-2499)tCg>tTg p.S833L NM_001099289.1 NP_001092759.1 Q8TEJ3 SH3R3_HUMAN SH3 domain containing ring finger 3 833 SH3 4. zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2) 18 GTGGTGGTCTCGTACCCACCC 0.587000 5 20 0 0 1 0 0 ZBTB4 57659 broad.mit.edu 37 17 7365848 7365848 + Missense_Mutation SNP G G T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:7365848G>T ENST00000311403.4 - 4 2792 c.2453C>A c.(2452-2454)gCc>gAc p.A818D ZBTB4_ENST00000380599.4_Missense_Mutation_p.A818D NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 818 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) CTCTTGGGGGGCTTCCTCCTT 0.652000 11 35 1.33987e-11 1.36064e-11 1 1 0 HSPG2 3339 broad.mit.edu 37 1 22216496 22216496 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:22216496G>A ENST00000374695.3 - 6 631 c.552C>T c.(550-552)ttC>ttT p.F184F NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 184 SEA. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GTCGGAACTGGAATCCCTGGG 0.622000 18 72 0 0 1 0 0 MSL2 55167 broad.mit.edu 37 3 135870900 135870900 + Missense_Mutation SNP G G A rs147779185 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:135870900G>A ENST00000309993.2 - 2 1555 c.823C>T c.(823-825)Cgc>Tgc p.R275C MSL2_ENST00000434835.2_Missense_Mutation_p.R201C NM_018133.3 NP_060603.2 Q9HCI7 MSL2_HUMAN male-specific lethal 2 homolog (Drosophila) 275 histone H4-K16 acetylation MSL complex zinc ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 18 TCTAAGCTGCGGAGTACTTCC 0.438000 9 77 0 0 1 0 0 TMEM186 25880 broad.mit.edu 37 16 8889953 8889953 + Missense_Mutation SNP T T G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:8889953T>G ENST00000333050.6 - 2 531 c.498A>C c.(496-498)gaA>gaC p.E166D PMM2_ENST00000566983.1_Intron|TMEM186_ENST00000564869.1_Intron NM_015421.3 NP_056236.2 Q96B77 TM186_HUMAN transmembrane protein 186 166 integral to membrane|mitochondrion NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 9 GGTCCTTGGTTTCTGTCAGGG 0.572000 31 108 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 240969562 240969562 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:240969562C>T ENST00000366565.1 - 15 1528 c.1147G>A c.(1147-1149)Gaa>Aaa p.E383K RGS7_ENST00000366564.1_Missense_Mutation_p.E383K|RGS7_ENST00000407727.1_Missense_Mutation_p.E383K|RGS7_ENST00000446183.2_Missense_Mutation_p.E299K|RGS7_ENST00000366563.1_Missense_Mutation_p.E383K|RGS7_ENST00000331110.7_Missense_Mutation_p.E357K|RGS7_ENST00000366562.4_Missense_Mutation_p.E383K|RGS7_ENST00000401882.1_Missense_Mutation_p.E330K|RGS7_ENST00000348120.2_Missense_Mutation_p.E330K NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 383 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TGCCATATTTCCTGAACTCTT 0.473000 13 111 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121170405 121170405 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:121170405C>T ENST00000297848.3 + 3 395 c.125C>T c.(124-126)tCt>tTt p.S42F COL14A1_ENST00000537875.1_Missense_Mutation_p.S42F|COL14A1_ENST00000309791.4_Missense_Mutation_p.S42F|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.S42F NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 42 Fibronectin type-III 1. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) AATGTAATATCTCATGACAGT 0.343000 16 44 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101720364 101720364 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr13:101720364G>A ENST00000251127.6 - 39 4433 c.4352C>T c.(4351-4353)tCc>tTc p.S1451F NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1451 integral to membrane sodium channel activity|voltage-gated ion channel activity p.S1451F(1) NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ATAAAACAAGGAGAAATTCTC 0.318000 6 35 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71576997 71576997 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:71576997C>T ENST00000409544.1 + 2 1543 c.913C>T c.(913-915)Ctt>Ttt p.L305F ZNF638_ENST00000355812.3_Missense_Mutation_p.L305F|ZNF638_ENST00000377802.2_Missense_Mutation_p.L305F|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.L305F NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 305 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 ACAGTCAGTCCTTGAACCCAT 0.443000 16 145 0 0 1 0 0 DOCK9 23348 broad.mit.edu 37 13 99508279 99508279 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr13:99508279G>A ENST00000376460.1 - 34 3784 c.3704C>T c.(3703-3705)cCa>cTa p.P1235L DOCK9_ENST00000448493.2_Missense_Mutation_p.P1247L|DOCK9_ENST00000339416.2_Missense_Mutation_p.P1236L NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1236 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GGTTGTATATGGAGAAGCTAA 0.363000 4 35 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40362910 40362910 + Missense_Mutation SNP G G C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:40362910G>C ENST00000221347.6 - 32 15167 c.15160C>G c.(15160-15162)Cgg>Ggg p.R5054G NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 5054 VWFD 12. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TGGGGGTTCCGGAGCTGCCCG 0.657000 15 103 0 0 1 0 0 TRAF6 7189 broad.mit.edu 37 11 36511689 36511689 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:36511689G>A ENST00000526995.1 - 7 1514 c.1268C>T c.(1267-1269)cCt>cTt p.P423L TRAF6_ENST00000348124.5_Missense_Mutation_p.P423L NM_004620.3 NP_004611.1 Q9Y4K3 TRAF6_HUMAN TNF receptor-associated factor 6, E3 ubiquitin protein ligase 423 MATH. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1) 27 all_lung(20;0.211) all_hematologic(20;0.107) GAAGGGCCAAGGGAGGTGGCT 0.483000 8 56 0 0 1 0 0 PAH 5053 broad.mit.edu 37 12 103237482 103237482 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:103237482C>T ENST00000553106.1 - 11 1613 c.1141G>A c.(1141-1143)Gag>Aag p.E381K PAH_ENST00000307000.2_Missense_Mutation_p.E376K NM_000277.1 NP_000268.1 P00439 PH4H_HUMAN phenylalanine hydroxylase 381 catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) GGCTGGAACTCCGTGACAGTG 0.502000 4 62 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993791 140993791 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:140993791C>T ENST00000285879.4 + 4 887 c.601C>T c.(601-603)Cct>Tct p.P201S MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 201 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) ACTCCAGATTCCTGTGAGCCG 0.502000 HNSCC(15;0.026) 18 116 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16918807 16918807 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:16918807C>T ENST00000524140.2 + 18 4565 c.4147C>T c.(4147-4149)Ccc>Tcc p.P1383S NWD1_ENST00000379808.3_Missense_Mutation_p.P1383S|NWD1_ENST00000552788.1_Missense_Mutation_p.P1383S|NWD1_ENST00000549814.1_Missense_Mutation_p.P1341S|NWD1_ENST00000523826.1_Missense_Mutation_p.P1177S|NWD1_ENST00000339803.6_Missense_Mutation_p.P1248S NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1383 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CAAAGCGTTTCCCTTGGAGAC 0.587000 22 130 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152733045 152733045 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:152733045C>T ENST00000368773.1 + 2 1039 c.981C>T c.(979-981)atC>atT p.I327I KPRP_ENST00000606109.1_Silent_p.I327I NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 327 Pro-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AGTGCCGAATCGAGATTTCCT 0.627000 21 62 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7649726 7649726 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:7649726C>T ENST00000359156.4 - 5 984 c.782G>A c.(781-783)gGa>gAa p.G261E CD163_ENST00000396620.3_Missense_Mutation_p.G261E|CD163_ENST00000432237.2_Missense_Mutation_p.G261E|CD163_ENST00000541972.1_Missense_Mutation_p.G249E NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 261 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 CAGATCTGCTCCCTCTGTAAC 0.448000 33 132 0 0 1 0 0 CCDC38 120935 broad.mit.edu 37 12 96273426 96273426 + Missense_Mutation SNP T T G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:96273426T>G ENST00000344280.3 - 12 1695 c.1138A>C c.(1138-1140)Aaa>Caa p.K380Q SNRPF_ENST00000552085.1_Intron|SNRPF_ENST00000553192.1_Intron NM_182496.2 NP_872302.2 Q502W7 CCD38_HUMAN coiled-coil domain containing 38 380 breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 ACTTACGTTTTATCCTGTATA 0.373000 3 46 0 0 1 0 0 SERPINB8 5271 broad.mit.edu 37 18 61650938 61650938 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr18:61650938C>T ENST00000397985.2 + 5 806 c.550C>T c.(550-552)Ctc>Ttc p.L184F SERPINB8_ENST00000353706.2_Missense_Mutation_p.L184F|SERPINB8_ENST00000542677.1_Missense_Mutation_p.L2F|SERPINB8_ENST00000397988.3_Missense_Mutation_p.L184F NM_001276490.1 NP_001263419.1 P50452 SPB8_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 8 184 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 17 Esophageal squamous(42;0.129) AAGGGGAATGCTCTTTAAAAC 0.363000 26 77 0 0 1 0 0 ASS1 445 broad.mit.edu 37 9 133355132 133355132 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:133355132G>A ENST00000372394.1 + 11 1199 c.718G>A c.(718-720)Gat>Aat p.D240N ASS1_ENST00000352480.5_Missense_Mutation_p.D240N|ASS1_ENST00000493984.2_Intron|ASS1_ENST00000372393.3_Missense_Mutation_p.D240N P00966 ASSY_HUMAN argininosuccinate synthase 1 240 arginine biosynthetic process|urea cycle cytosol argininosuccinate synthase activity|ATP binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(145;0.000514) Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155) CAACGTCAAGGATGGCACCAC 0.647000 20 90 0 0 1 0 0 RAPGEF1 2889 broad.mit.edu 37 9 134501592 134501592 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:134501592G>A ENST00000372195.1 - 10 1662 c.1419C>T c.(1417-1419)ctC>ctT p.L473L RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372190.3_Silent_p.L474L|RAPGEF1_ENST00000372189.3_Silent_p.L456L Q13905 RPGF1_HUMAN Rap guanine nucleotide exchange factor (GEF) 1 456 activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 39 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) TCTTCTCGGGGAGAGCAGGTG 0.647000 5 24 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18865862 18865862 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:18865862C>T ENST00000447925.2 - 6 891 c.622G>A c.(622-624)Gaa>Aaa p.E208K PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000538330.1_5'UTR|PLCZ1_ENST00000541695.1_Missense_Mutation_p.E73K|PLCZ1_ENST00000266505.7_Missense_Mutation_p.E210K|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000435379.1_Intron NM_033123.2 NP_149114.2 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 210 PI-PLC X-box. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) ACAACAGGTTCATTTTGTGCT 0.388000 16 85 0 0 1 0 0 PGM5 5239 broad.mit.edu 37 9 71094430 71094430 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:71094430G>A ENST00000396396.1 + 8 1485 c.1256G>A c.(1255-1257)cGa>cAa p.R419Q NM_021965.3 NP_068800.2 Q15124 PGM5_HUMAN phosphoglucomutase 5 419 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34 GAAATTGTCCGAGATCACTGG 0.537000 36 97 0 0 1 0 0 TRIM35 23087 broad.mit.edu 37 8 27168487 27168487 + Missense_Mutation SNP C C T rs145238225 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:27168487C>T ENST00000305364.4 - 1 349 c.266G>A c.(265-267)gGc>gAc p.G89D TRIM35_ENST00000521253.1_Missense_Mutation_p.G89D NM_171982.3 NP_741983.2 Q9UPQ4 TRI35_HUMAN tripartite motif containing 35 89 apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle cytoplasm|nucleus zinc ion binding breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 14 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141) CCAGCGCGCGCCCTCGGCCTC 0.677000 6 22 0 0 1 0 0 CNGA2 1260 broad.mit.edu 37 X 150911042 150911042 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:150911042C>T ENST00000329903.4 + 5 550 c.517C>T c.(517-519)Ctg>Ttg p.L173L NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 173 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) AGGCTACTACCTGGTGTGGCT 0.552000 64 102 0 0 1 0 0 C17orf70 80233 broad.mit.edu 37 17 79514095 79514095 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:79514095G>A ENST00000537152.1 - 5 2085 c.1560C>T c.(1558-1560)ccC>ccT p.P520P C17orf70_ENST00000425898.2_Silent_p.P320P|C17orf70_ENST00000327787.8_Silent_p.P671P NM_025161.5 NP_079437.5 Q0VG06 FP100_HUMAN chromosome 17 open reading frame 70 671 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) GGTCTCGGGTGGGGCCGAGTG 0.687000 11 28 0 0 1 0 0 IL15 3600 broad.mit.edu 37 4 142640628 142640628 + Splice_Site SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr4:142640628C>T ENST00000296545.7 + 3 855 c.12_splice c.e3+1 p.S4_splice IL15_ENST00000529613.1_Splice_Site_p.S4_splice|IL15_ENST00000514653.1_5'UTR|IL15_ENST00000320650.4_Splice_Site_p.S4_splice|IL15_ENST00000477265.1_5'UTR P40933 IL15_HUMAN interleukin 15 4 cell-cell signaling|immune response|positive regulation of interleukin-17 production endosome|extracellular space|Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus cytokine activity|cytokine receptor binding|signal transducer activity kidney(1)|large_intestine(1)|lung(2)|stomach(1) 5 all_hematologic(180;0.158) ATGAGAATTTCGGTAAGAAAA 0.393000 10 30 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28202874 28202874 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr15:28202874C>T ENST00000354638.3 - 16 1799 c.1644G>A c.(1642-1644)aaG>aaA p.K548K OCA2_ENST00000353809.5_Silent_p.K524K|OCA2_ENST00000382996.2_Silent_p.K548K NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 548 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding p.K548N(2)|p.K548K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GAATCTCGTGCTTCAGTTCTG 0.612000 Oculocutaneous Albinism 4 43 0 0 1 0 0 FAM184A 79632 broad.mit.edu 37 6 119324127 119324127 + Missense_Mutation SNP T T G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:119324127T>G ENST00000338891.7 - 9 2468 c.2025A>C c.(2023-2025)aaA>aaC p.K675N FAM184A_ENST00000368475.4_Missense_Mutation_p.K555N|FAM184A_ENST00000521531.1_Missense_Mutation_p.K675N|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.K555N NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 675 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 TCTCTCGATCTTTCAACTGCA 0.353000 20 65 0 0 1 0 0 EIF2AK1 27102 broad.mit.edu 37 7 6089631 6089631 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:6089631G>A ENST00000199389.6 - 3 469 c.323C>T c.(322-324)aCt>aTt p.T108I EIF2AK1_ENST00000536084.1_Intron NM_001134335.1|NM_014413.3 NP_001127807.1|NP_055228.2 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha kinase 1 108 negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 27 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) GTCACTACAAGTGAAAGAAGA 0.353000 15 57 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5186263 5186263 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:5186263G>A ENST00000274181.7 + 5 1000 c.862G>A c.(862-864)Gaa>Aaa p.E288K ADAMTS16_ENST00000511368.1_Missense_Mutation_p.E288K NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 288 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 CCATAGAAATGAAGAACTGAA 0.473000 6 67 0 0 1 0 0 PRDM10 56980 broad.mit.edu 37 11 129785596 129785596 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:129785596G>A ENST00000358825.5 - 17 2728 c.2497C>T c.(2497-2499)Ccc>Tcc p.P833S PRDM10_ENST00000304538.6_Missense_Mutation_p.P743S|PRDM10_ENST00000423662.2_Missense_Mutation_p.P747S|PRDM10_ENST00000526082.1_Missense_Mutation_p.P747S|PRDM10_ENST00000528746.1_Missense_Mutation_p.P803S|PRDM10_ENST00000360871.3_Missense_Mutation_p.P829S NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 833 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) CAGCAGACGGGAGGGGTGGCG 0.602000 25 121 0 0 1 0 0 A4GALT 53947 broad.mit.edu 37 22 43089292 43089292 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr22:43089292G>A ENST00000401850.1 - 2 1155 c.666C>T c.(664-666)gcC>gcT p.A222A A4GALT_ENST00000249005.2_Silent_p.A222A|A4GALT_ENST00000381278.3_Silent_p.A222A Q9NPC4 A4GAT_HUMAN alpha 1,4-galactosyltransferase 222 glycosphingolipid biosynthetic process|plasma membrane organization Golgi stack|integral to Golgi membrane|membrane fraction lactosylceramide 4-alpha-galactosyltransferase activity NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1) 11 GGCGCTCGAAGGCCAGGAACG 0.632000 4 32 0 0 1 0 0 ARSB 411 broad.mit.edu 37 5 78181624 78181624 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:78181624C>T ENST00000264914.4 - 5 1461 c.925G>A c.(925-927)Ggt>Agt p.G309S ARSB_ENST00000565165.1_Missense_Mutation_p.G309S|ARSB_ENST00000396151.3_Missense_Mutation_p.G309S|ARSB_ENST00000521800.1_5'UTR NM_000046.3 NP_000037.2 P15848 ARSB_HUMAN arylsulfatase B 309 lysosomal transport|lysosome organization lysosome arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34) CAGTTATTACCCCCTGCCAAA 0.502000 9 159 0 0 1 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58190113 58190113 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:58190113C>T ENST00000318203.5 + 5 1839 c.1142C>T c.(1141-1143)aCc>aTc p.T381I NM_152677.2 NP_689890.1 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 381 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1) 30 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGCCACAAAACCAACCTGCGG 0.468000 34 148 0 0 1 0 0 OR8J3 81168 broad.mit.edu 37 11 55905072 55905072 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:55905072C>T ENST00000301529.1 - 1 122 c.123G>A c.(121-123)ggG>ggA p.G41G NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) TGCCCAGGTTCCCTGCCATGG 0.493000 15 139 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143013381 143013381 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:143013381C>T ENST00000343257.2 + 1 163 c.76C>T c.(76-78)Ccc>Tcc p.P26S NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 26 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity p.P26T(1) breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CCAGTATATGCCCTTTGAACA 0.637000 20 183 0 0 1 0 0 ASIC2 40 broad.mit.edu 37 17 31439085 31439085 + Splice_Site SNP C C G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:31439085C>G ENST00000225823.2 - 2 1581 c.708_splice c.e2-1 p.V237_splice ASIC2_ENST00000359872.6_Splice_Site_p.V186_splice|RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000448983.1_5'UTR NM_183377.1 NP_899233.1 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 186 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) TTTGTAAACACCTGAAGGAGA 0.522000 3 21 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76430278 76430278 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:76430278C>T ENST00000389840.5 - 75 12163 c.12039G>A c.(12037-12039)aaG>aaA p.K4013K DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.K4014K dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) ACTCCATCTCCTTGGTGCACA 0.602000 26 71 0 0 1 0 0 SMTN 6525 broad.mit.edu 37 22 31486981 31486981 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr22:31486981C>T ENST00000333137.7 + 10 1190 c.972C>T c.(970-972)ttC>ttT p.F324F SMTN_ENST00000358743.1_Silent_p.F324F|SMTN_ENST00000347557.2_Silent_p.F324F NM_001207018.1|NM_134269.2 NP_001193947.1|NP_599031.1 P53814 SMTN_HUMAN smoothelin 324 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25 CTTCCTCATTCCAGCGGGCTG 0.602000 6 116 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9074184 9074184 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:9074184G>A ENST00000397910.4 - 3 13465 c.13262C>T c.(13261-13263)cCa>cTa p.P4421L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4423 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CATAAAATCTGGAGTCACAGC 0.498000 35 145 0 0 1 0 0 TMEM132A 54972 broad.mit.edu 37 11 60699182 60699182 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:60699182C>T ENST00000005286.4 + 6 1194 c.1041C>T c.(1039-1041)ttC>ttT p.F347F TMEM132A_ENST00000453848.2_Silent_p.F346F NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 346 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 TGTCTGAGTTCCTATGGGTGG 0.582000 38 139 0 0 1 0 0 TRAV12-2 28673 broad.mit.edu 37 14 22356656 22356656 + RNA SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr14:22356656C>T ENST00000390437.2 + 0 419 CCCAGTGATTCAGCCACCTAC 0.517000 60 200 0 0 1 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907868 12907868 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:12907868C>T ENST00000317869.6 - 2 500 c.275G>A c.(274-276)cGa>cAa p.R92Q NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 TGCGTTTCCTCGGTTCACTTT 0.483000 4 167 0 0 1 0 0 DGKA 1606 broad.mit.edu 37 12 56345508 56345508 + Missense_Mutation SNP G G C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:56345508G>C ENST00000331886.5 + 18 1982 c.1528G>C c.(1528-1530)Gaa>Caa p.E510Q DGKA_ENST00000394147.1_Missense_Mutation_p.E510Q|DGKA_ENST00000551156.1_Missense_Mutation_p.E510Q|DGKA_ENST00000549079.2_3'UTR NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 510 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) TCAACAAACTGAAGAAAAAAG 0.458000 3 57 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135429121 135429121 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:135429121C>T ENST00000394143.1 + 6 3547 c.3256C>T c.(3256-3258)Cgt>Tgt p.R1086C GPR112_ENST00000370652.1_Missense_Mutation_p.R1086C|GPR112_ENST00000287534.4_Missense_Mutation_p.R1023C|GPR112_ENST00000394141.1_Missense_Mutation_p.R881C|GPR112_ENST00000412101.1_Missense_Mutation_p.R881C NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1086 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AGACTTGATTCGTACCACTTC 0.463000 79 123 0 0 1 0 0 SREBF2 6721 broad.mit.edu 37 22 42263110 42263110 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr22:42263110C>T ENST00000361204.4 + 2 530 c.364C>T c.(364-366)Ccc>Tcc p.P122S NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 122 Gly/Pro/Ser-rich. cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 CACCTCAGTTCCCACCACACC 0.582000 8 124 0 0 1 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72663998 72663998 + RNA SNP T T G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:72663998T>G ENST00000425256.1 - 0 902 NR_002164.1 ATAGCCGGGGTCCTTGAATAC 0.488000 3 59 0 0 1 0 0 OR6K3 391114 broad.mit.edu 37 1 158687706 158687706 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:158687706G>A ENST00000368146.1 - 1 247 c.248C>T c.(247-249)tCc>tTc p.S83F OR6K3_ENST00000368145.1_Missense_Mutation_p.S67F Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S83F(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) CTCCAGAAAGGAAAATATACT 0.408000 47 200 0 0 1 0 0 GOLGA2P9 440518 broad.mit.edu 37 19 22779166 22779166 + RNA SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:22779166C>T ENST00000600260.1 + 0 108 NR_033899.1 CCTCCCTTCCCGCCCTGCCAT 0.602000 5 4 0 0 1 0 0 HAL 3034 broad.mit.edu 37 12 96371777 96371777 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:96371777G>A ENST00000261208.3 - 18 1967 c.1599C>T c.(1597-1599)tcC>tcT p.S533S HAL_ENST00000541929.1_Silent_p.S325S|HAL_ENST00000538703.1_Silent_p.S533S NM_002108.3 NP_002099.1 P42357 HUTH_HUMAN histidine ammonia-lyase 533 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) ATCCTCCCATGGAGACGTGGT 0.592000 16 90 0 0 1 0 0 DOCK4 9732 broad.mit.edu 37 7 111418398 111418398 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:111418398C>T ENST00000428084.1 - 36 3885 c.3613G>A c.(3613-3615)Gag>Aag p.E1205K DOCK4_ENST00000494651.2_Missense_Mutation_p.E79K|DOCK4_ENST00000437633.1_Missense_Mutation_p.E1196K Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1196 DHR-2. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) TACATCTCCTCCTTGTTCAGT 0.388000 21 84 0 0 1 0 0 CAPSL 133690 broad.mit.edu 37 5 35910596 35910596 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:35910596C>T ENST00000397367.2 - 3 313 c.187G>A c.(187-189)Gaa>Aaa p.E63K CAPSL_ENST00000397366.1_Missense_Mutation_p.E63K|CAPSL_ENST00000514524.1_Missense_Mutation_p.E63K NM_144647.3 NP_653248.3 Q8WWF8 CAPSL_HUMAN calcyphosine-like 63 EF-hand 1. cytoplasm calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) TTCATAAATTCTTTAAAATCA 0.323000 12 35 0 0 1 0 0 SLC7A4 6545 broad.mit.edu 37 22 21385729 21385729 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr22:21385729C>T ENST00000382932.2 - 2 440 c.373G>A c.(373-375)Gaa>Aaa p.E125K AC002472.11_ENST00000450652.1_RNA|SLC7A4_ENST00000403586.1_Missense_Mutation_p.E125K NM_004173.2 NP_004164.2 O43246 CTR4_HUMAN solute carrier family 7, member 4 125 cellular amino acid metabolic process integral to membrane basic amino acid transmembrane transporter activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2) 18 all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) ATGATGTATTCGAGGAGAACA 0.607000 13 41 0 0 1 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156931484 156931484 + Silent SNP G G A rs36029227 byFrequency TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:156931484G>A ENST00000368194.3 - 14 2263 c.1224C>T c.(1222-1224)ttC>ttT p.F408F ARHGEF11_ENST00000361409.2_Silent_p.F368F NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 368 RGSL. actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TTTTCTCCAGGAAAATATTCC 0.418000 11 88 0 0 1 0 0 IGHV1-46 28465 broad.mit.edu 37 14 106967197 106967197 + RNA SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr14:106967197C>T ENST00000390622.2 - 0 506 GTTGATTATTCCCATCCACTC 0.547000 26 110 0 0 1 0 0 NVL 4931 broad.mit.edu 37 1 224482088 224482088 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:224482088G>A ENST00000281701.6 - 12 1465 c.1206C>T c.(1204-1206)gcC>gcT p.A402A NVL_ENST00000469075.1_Silent_p.A311A|NVL_ENST00000482491.1_Silent_p.A126A|NVL_ENST00000340871.4_Silent_p.A213A|NVL_ENST00000391875.2_Silent_p.A296A|NVL_ENST00000361463.3_Silent_p.A296A NM_002533.3 NP_002524.2 O15381 NVL_HUMAN nuclear VCP-like 402 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) CTAGGACCCGGGCTGTAGCAG 0.463000 17 64 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179465769 179465769 + Nonsense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:179465769C>T ENST00000589042.1 - 288 56086 c.55862G>A c.(55861-55863)tGg>tAg p.W18621* TTN_ENST00000342175.6_Nonsense_Mutation_p.W9748*|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W9556*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W9681*|TTN_ENST00000591111.1_Nonsense_Mutation_p.W16980*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W16053*|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16980 Fibronectin type-III 34. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGTAGGGTCCCATGCAAGGCA 0.493000 7 118 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36215909 36215909 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:36215909C>T ENST00000222270.7 + 10 3449 c.3449C>T c.(3448-3450)cCc>cTc p.P1150L WBP7_ENST00000420124.1_Missense_Mutation_p.P1150L|KMT2B_ENST00000607650.1_RNA NM_014727.1 NP_055542.1 GCCCCTGGCCCCTTTGCTTCT 0.592000 11 50 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41967335 41967335 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:41967335C>T ENST00000298919.7 + 10 2362 c.1974C>T c.(1972-1974)atC>atT p.I658I PDZRN4_ENST00000539469.2_Silent_p.I660I|PDZRN4_ENST00000402685.2_Silent_p.I918I Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 918 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) CCTTAAAGATCAAGGAAGAGC 0.517000 4 71 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22363414 22363414 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:22363414C>T ENST00000397121.2 - 3 1422 c.1105G>A c.(1105-1107)Gga>Aga p.G369R NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TTGCCACATCCTTCACATTTG 0.393000 10 80 0 0 1 0 0 CENPE 1062 broad.mit.edu 37 4 104081839 104081839 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr4:104081839G>A ENST00000265148.3 - 21 2318 c.2229C>T c.(2227-2229)gtC>gtT p.V743V CENPE_ENST00000380026.3_Silent_p.V718V NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 743 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) AAAGCAAAATGACTTCTTCCC 0.318000 11 52 0 0 1 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077107 19077107 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:19077107G>A ENST00000329773.2 - 2 930 c.843C>T c.(841-843)ttC>ttT p.F281F NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 281 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 AAGAGCCCACGAAGAAGTAAA 0.498000 8 69 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11039095 11039095 + RNA SNP T T C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr21:11039095T>C ENST00000470054.1 - 0 1108 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTTCCTTTTCTCCTTGTAGCC 0.403000 6 357 0 0 1 0 0 TRPV4 59341 broad.mit.edu 37 12 110246231 110246231 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:110246231G>A ENST00000418703.2 - 2 523 c.429C>T c.(427-429)ccC>ccT p.P143P TRPV4_ENST00000261740.2_Silent_p.P143P|TRPV4_ENST00000392719.2_Silent_p.P143P|TRPV4_ENST00000536838.1_Silent_p.P109P|TRPV4_ENST00000346520.2_Silent_p.P143P|TRPV4_ENST00000537083.1_Silent_p.P143P|TRPV4_ENST00000541794.1_Silent_p.P143P|TRPV4_ENST00000544971.1_Silent_p.P143P NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 143 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 TGAGGATGGGGGGCGGCTGAG 0.637000 11 60 0 0 1 0 0 TGM4 7047 broad.mit.edu 37 3 44952563 44952563 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:44952563G>A ENST00000296125.4 + 12 1788 c.1720G>A c.(1720-1722)Gaa>Aaa p.E574K NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 574 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) GGAGTCTAAGGAAATCATGGC 0.468000 20 66 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141747642 141747642 + Silent SNP A A T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:141747642A>T ENST00000475668.2 + 22 2610 c.2556A>T c.(2554-2556)ggA>ggT p.G852G MGAM_ENST00000549489.2_Silent_p.G852G O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 852 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AAGCAAAAGGAGAACTTTTCT 0.453000 7 29 0 0 1 0 0 NR4A2 4929 broad.mit.edu 37 2 157183325 157183325 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:157183325C>T ENST00000339562.4 - 6 1628 c.1266G>A c.(1264-1266)gaG>gaA p.E422E NR4A2_ENST00000409108.2_Silent_p.E422E|NR4A2_ENST00000426264.1_Silent_p.E359E|NR4A2_ENST00000429376.1_Silent_p.E359E|NR4A2_ENST00000409572.1_Silent_p.E422E|NR4A2_ENST00000539077.1_Silent_p.E433E NM_006186.3 NP_006177.1 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 422 Ligand-binding (Potential). cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 40 CAGGGATCTTCTCTGCCCAGC 0.493000 28 191 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70451302 70451302 + Missense_Mutation SNP T T C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:70451302T>C ENST00000373644.4 + 12 6351 c.6142T>C c.(6142-6144)Ttt>Ctt p.F2048L NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 2048 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 CTCCCTTGTCTTTTACCAGCA 0.468000 17 54 0 0 1 0 0 EPHA4 2043 broad.mit.edu 37 2 222291222 222291222 + Silent SNP A A G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:222291222A>G ENST00000281821.2 - 16 2849 c.2808T>C c.(2806-2808)ggT>ggC p.G936G EPHA4_ENST00000392071.4_Silent_p.G885G|EPHA4_ENST00000409854.1_Silent_p.G936G|EPHA4_ENST00000409938.1_Silent_p.G936G NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 936 SAM. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) GTGTGGTATAACCAGCAGCTG 0.438000 14 59 0 0 1 0 0 GYS2 2998 broad.mit.edu 37 12 21733376 21733376 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:21733376G>A ENST00000261195.2 - 2 457 c.203C>T c.(202-204)cCa>cTa p.P68L NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 68 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 CTCAAAATATGGACCTATCAG 0.413000 26 133 0 0 1 0 0 CD248 57124 broad.mit.edu 37 11 66083219 66083219 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:66083219G>A ENST00000311330.3 - 1 1296 c.1280C>T c.(1279-1281)cCc>cTc p.P427L RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 427 Pro-rich. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) TGGCCAGGTGGGCTCCGGGTA 0.657000 19 181 0 0 1 0 0 ANTXR1 84168 broad.mit.edu 37 2 69397421 69397421 + Splice_Site SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:69397421G>A ENST00000303714.4 + 14 1411 c.1089_splice c.e14+1 p.E363_splice ANTXR1_ENST00000409349.3_Splice_Site_p.E363_splice NM_032208.2 NP_115584.1 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 363 Asp/Glu-rich (highly acidic). actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 AGGAGAGTGAGGTAAGTGACC 0.572000 Familial Infantile Hemangioma 9 47 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27495589 27495589 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:27495589G>A ENST00000356183.4 - 25 3959 c.3944C>T c.(3943-3945)tCc>tTc p.S1315F GTF3C1_ENST00000561623.1_Missense_Mutation_p.S1315F NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1315 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 TCGTCCAACGGAATGAGATGT 0.493000 23 72 0 0 1 0 0 HCRTR2 3062 broad.mit.edu 37 6 55113580 55113580 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:55113580G>A ENST00000370862.3 + 2 703 c.367G>A c.(367-369)Gga>Aga p.G123R NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 123 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CTGGTTTTTTGGACAGTCCCT 0.428000 55 258 0 0 1 0 0 MTA1 9112 broad.mit.edu 37 14 105927123 105927123 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr14:105927123C>T ENST00000331320.7 + 10 989 c.775C>T c.(775-777)Cac>Tac p.H259Y MTA1_ENST00000406191.1_Missense_Mutation_p.H259Y|MTA1_ENST00000405646.1_Missense_Mutation_p.H242Y NM_001203258.1|NM_004689.3 NP_001190187.1|NP_004680.2 Q13330 MTA1_HUMAN metastasis associated 1 259 ELM2. signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1) 14 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) GGATACTCTCCACAAGAACAT 0.627000 7 27 0 0 1 0 0 RAP1GDS1 5910 broad.mit.edu 37 4 99363184 99363184 + Silent SNP C C T rs56262026 by1000genomes TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr4:99363184C>T ENST00000408927.3 + 15 1853 c.1740C>T c.(1738-1740)gtC>gtT p.V580V RAP1GDS1_ENST00000453712.2_Silent_p.V580V|RAP1GDS1_ENST00000408900.3_Silent_p.V531V|RAP1GDS1_ENST00000380158.4_Silent_p.V532V|RAP1GDS1_ENST00000264572.7_Silent_p.V489V|RAP1GDS1_ENST00000339360.5_Silent_p.V581V NM_001100426.1|NM_001100427.1|NM_021159.4 NP_001093896.1|NP_001093897.1|NP_066982.3 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 580 binding|GTPase activator activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1) 28 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) TTCTAGATGTCGTATCCAAAC 0.423000 T NUP98 T-ALL 12 34 0 0 1 0 0 IL22RA1 58985 broad.mit.edu 37 1 24447646 24447646 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:24447646G>A ENST00000270800.1 - 7 1412 c.1374C>T c.(1372-1374)tcC>tcT p.S458S NM_021258.3 NP_067081.2 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 458 integral to membrane interferon receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) TTGCTTCTTGGGATTCCTCCA 0.527000 15 75 0 0 1 0 0 NPFFR1 64106 broad.mit.edu 37 10 72026036 72026036 + Missense_Mutation SNP G G T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:72026036G>T ENST00000277942.5 - 2 126 c.119C>A c.(118-120)tCc>tAc p.S40Y NM_022146.4 NP_071429.1 Q9GZQ6 NPFF1_HUMAN neuropeptide FF receptor 1 40 integral to membrane|plasma membrane neuropeptide receptor activity endometrium(2)|lung(1) 3 CGCCACAGGGGAGGTGTGCTG 0.572000 8 25 0.0477658 0.0479197 1 1 0 OBP2B 29989 broad.mit.edu 37 9 136083586 136083586 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:136083586C>T ENST00000372034.3 - 3 252 c.211G>A c.(211-213)Gag>Aag p.E71K OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_Intron NM_014581.2 NP_055396.1 Q9NPH6 OBP2B_HUMAN odorant binding protein 2B 71 chemosensory behavior|sensory perception of smell extracellular region odorant binding|transporter activity central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05) CACCTATCCTCCCTCCTGGAA 0.627000 8 50 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542984 14542984 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr18:14542984C>T ENST00000358970.5 - 1 161 c.162G>A c.(160-162)atG>atA p.M54I POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 54 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TGAGCATCTTCATAAAGGAGT 0.592000 36 326 0 0 1 0 0 SPOCD1 90853 broad.mit.edu 37 1 32280408 32280408 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:32280408C>T ENST00000360482.2 - 2 656 c.527G>A c.(526-528)gGg>gAg p.G176E SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Missense_Mutation_p.G176E|SPOCD1_ENST00000533231.1_Missense_Mutation_p.G176E NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 176 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) TCTGTCACACCCTGGAGAACT 0.607000 28 88 0 0 1 0 0 CD1C 911 broad.mit.edu 37 1 158262420 158262420 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:158262420C>T ENST00000368170.3 + 4 924 c.645C>T c.(643-645)agC>agT p.S215S NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 215 Ig-like. antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) GTCGCCCCAGCCTTGGGTCTG 0.527000 17 60 0 0 1 0 0 OLA1 29789 broad.mit.edu 37 2 175094055 175094055 + Missense_Mutation SNP G G T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:175094055G>T ENST00000284719.3 - 3 472 c.226C>A c.(226-228)Caa>Aaa p.Q76K OLA1_ENST00000344357.5_5'UTR|OLA1_ENST00000409546.1_Missense_Mutation_p.Q96K|OLA1_ENST00000428402.2_Missense_Mutation_p.Q76K NM_013341.3 NP_037473.3 Q9NTK5 OLA1_HUMAN Obg-like ATPase 1 76 G. ATP catabolic process cytoplasm ATP binding|GTP binding|hydrolase activity|protein binding breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 TTGTGGTATTGACAAAGAAAG 0.373000 3 57 1 1 1 1 0 CT62 196993 broad.mit.edu 37 15 71403623 71403623 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr15:71403623C>T ENST00000449977.2 - 4 784 c.278G>A c.(277-279)cGg>cAg p.R93Q THSD4_ENST00000355327.3_Intron|RP11-673C5.4_ENST00000564862.1_RNA|CT62_ENST00000566432.1_3'UTR NM_001102658.1 NP_001096128.1 P0C5K7 CT62_HUMAN cancer/testis antigen 62 93 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2) 6 CTTGACATTCCGTCTGGAAAC 0.493000 13 51 0 0 1 0 0 ANKRD16 54522 broad.mit.edu 37 10 5925962 5925962 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:5925962G>A ENST00000380094.5 - 4 1200 c.657C>T c.(655-657)gaC>gaT p.D219D ANKRD16_ENST00000191063.8_Silent_p.D219D|ANKRD16_ENST00000380092.4_Silent_p.D219D NM_019046.2 NP_061919.1 Q6P6B7 ANR16_HUMAN ankyrin repeat domain 16 219 breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2) 12 GCCTAGCGACGTCGATGTGCC 0.463000 5 56 0 0 1 0 0 CDHR2 54825 broad.mit.edu 37 5 176011587 176011587 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:176011587G>A ENST00000510636.1 + 19 2579 c.2305G>A c.(2305-2307)Gag>Aag p.E769K CDHR2_ENST00000506348.1_Missense_Mutation_p.E769K|CDHR2_ENST00000261944.5_Missense_Mutation_p.E769K NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 769 Cadherin 7. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 CCTGGATTACGAGACACAGCC 0.602000 9 86 0 0 1 0 0 SYT6 148281 broad.mit.edu 37 1 114680278 114680278 + Missense_Mutation SNP A A G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:114680278A>G ENST00000393296.1 - 3 987 c.910T>C c.(910-912)Tat>Cat p.Y304H SYT6_ENST00000369547.1_Missense_Mutation_p.Y219H Q5T7P8 SYT6_HUMAN synaptotagmin VI 304 C2 1. acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AGCTCCTCATAGGGCACAGGG 0.567000 3 55 0 0 1 0 0 SFSWAP 6433 broad.mit.edu 37 12 132239014 132239014 + Missense_Mutation SNP A A G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:132239014A>G ENST00000261674.4 + 9 1565 c.1424A>G c.(1423-1425)gAg>gGg p.E475G SFSWAP_ENST00000541286.1_Missense_Mutation_p.E475G NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 475 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 CTGAAGTTCGAGACCAGTGTT 0.512000 16 49 0 0 1 0 0 ABCC5 10057 broad.mit.edu 37 3 183696314 183696314 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:183696314C>T ENST00000334444.6 - 9 1513 c.1273G>A c.(1273-1275)Ggc>Agc p.G425S ABCC5_ENST00000265586.6_Missense_Mutation_p.G425S|ABCC5_ENST00000492216.1_5'UTR NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 425 ABC transmembrane type-1 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AGATCGAAGCCCAGGGTCATA 0.512000 14 56 0 0 1 0 0 PARP14 54625 broad.mit.edu 37 3 122418559 122418559 + Silent SNP T T C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:122418559T>C ENST00000474629.2 + 6 1424 c.1158T>C c.(1156-1158)gaT>gaC p.D386D NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 386 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) GGCAGGCAGATACTTCCACAA 0.443000 23 134 0 0 1 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187698702 187698702 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:187698702G>A ENST00000295131.2 - 6 838 c.799C>T c.(799-801)Cat>Tat p.H267Y NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 267 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) TGGGAAAGATGGCAGCAGCTA 0.358000 8 95 0 0 1 0 0 C8B 732 broad.mit.edu 37 1 57399080 57399080 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:57399080C>T ENST00000543257.1 - 11 1890 c.1324G>A c.(1324-1326)Gag>Aag p.E442K C8B_ENST00000535057.1_Missense_Mutation_p.E432K|C8B_ENST00000371237.4_Missense_Mutation_p.E494K NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 494 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 TGGAACTCCTCCAGTGCCTGC 0.527000 7 63 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72147133 72147133 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr13:72147133G>A ENST00000305425.4 - 4 1566 c.1144C>T c.(1144-1146)Cct>Tct p.P382S DACH1_ENST00000313174.7_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.P434S|DACH1_ENST00000354591.4_Intron NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 432 Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) ATCATAAAAGGAAGTTCCAGT 0.398000 5 54 0 0 1 0 0 SGCE 8910 broad.mit.edu 37 7 94218045 94218045 + Splice_Site SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:94218045C>T ENST00000415788.2 - 11 1449 c.e11-1 SGCE_ENST00000265735.7_Splice_Site|SGCE_ENST00000428696.2_Splice_Site|SGCE_ENST00000445866.2_Splice_Site|SGCE_ENST00000437425.2_Splice_Site|SGCE_ENST00000447873.1_Splice_Site O43556 SGCE_HUMAN sarcoglycan, epsilon cell-matrix adhesion|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma calcium ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1) 14 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) TGGCAAGTTCCTAGAAATGAT 0.333000 19 101 0 0 1 0 0 FBXW10 10517 broad.mit.edu 37 17 18653121 18653121 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:18653121G>A ENST00000308799.4 + 3 976 c.757G>A c.(757-759)Gat>Aat p.D253N FBXW10_ENST00000395667.1_Missense_Mutation_p.D253N|FBXW10_ENST00000395665.4_Missense_Mutation_p.D253N|FBXW10_ENST00000301938.4_Missense_Mutation_p.D253N Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 253 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 GCCAGGGTACGATCCCTGCAA 0.483000 11 169 0 0 1 0 0 SELENBP1 8991 broad.mit.edu 37 1 151340703 151340703 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:151340703G>A ENST00000435071.1 - 5 723 c.261C>T c.(259-261)tcC>tcT p.S87S SELENBP1_ENST00000368868.5_Silent_p.S151S|SELENBP1_ENST00000447402.3_Silent_p.S89S|SELENBP1_ENST00000426705.2_Silent_p.S193S|SELENBP1_ENST00000473693.1_5'UTR Q13228 SBP1_HUMAN selenium binding protein 1 151 protein transport cytosol|membrane|nucleolus protein binding|selenium binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CGTCTCCCAGGGAGCTGATCA 0.552000 57 214 0 0 1 0 0 KCNH3 23416 broad.mit.edu 37 12 49943421 49943421 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:49943421G>A ENST00000257981.6 + 9 1926 c.1666G>A c.(1666-1668)Gag>Aag p.E556K NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 556 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity p.E556K(1) NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 CGACACCACCGAGGTGCGGCC 0.592000 3 14 0 0 1 0 0 IL1RL1 9173 broad.mit.edu 37 2 102955354 102955354 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:102955354G>A ENST00000311734.2 + 3 458 c.119G>A c.(118-120)gGa>gAa p.G40E IL1RL1_ENST00000409584.1_Missense_Mutation_p.G40E|IL1RL1_ENST00000233954.1_Missense_Mutation_p.G40E|IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000404917.2_Intron|IL1RL1_ENST00000393393.3_Missense_Mutation_p.G40E Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 40 Ig-like C2-type 1. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 CCTAGACAAGGAAAACCTAGT 0.383000 6 86 0 0 1 0 0 AGTR2 186 broad.mit.edu 37 X 115304404 115304404 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:115304404G>A ENST00000371906.4 + 3 1061 c.871G>A c.(871-873)Gaa>Aaa p.E291K NM_000686.4 NP_000677.2 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 291 behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 TAATAGCTGCGAAGTTATAGC 0.488000 35 70 0 0 1 0 0 OVCH2 341277 broad.mit.edu 37 11 7727918 7727918 + RNA SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:7727918C>T ENST00000454689.1 - 0 23 RP11-35J10.5_ENST00000527565.1_lincRNA|OVCH2_ENST00000534193.1_RNA|RP11-35J10.4_ENST00000527443.1_RNA NM_198185.3 NP_937828.3 ovochymase 2 (gene/pseudogene) cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2) 15 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) GTAGTAAAATCAGCTTGTTCC 0.358000 4 5 0 0 1 0 0 TMEM178A 130733 broad.mit.edu 37 2 39944168 39944168 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:39944168C>T ENST00000281961.2 + 4 727 c.671C>T c.(670-672)tCc>tTc p.S224F TMEM178A_ENST00000482239.1_3'UTR NM_152390.2 NP_689603.2 transmembrane protein 178A TGCACCATTTCCCTCTGTACT 0.413000 16 139 0 0 1 0 0 MROH5 389690 broad.mit.edu 37 8 142488820 142488820 + RNA SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:142488820G>A ENST00000430863.1 - 0 1221 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 CCGTATGCCAGGAGGATGGTG 0.637000 8 17 0 0 1 0 0 PSG5 5673 broad.mit.edu 37 19 43679591 43679591 + Missense_Mutation SNP G G A rs144866823 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:43679591G>A ENST00000404580.1 - 4 828 c.740C>T c.(739-741)tCa>tTa p.S247L PSG5_ENST00000599812.1_Missense_Mutation_p.S340L|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000366175.3_Missense_Mutation_p.S247L|PSG5_ENST00000342951.6_Missense_Mutation_p.S247L|PSG5_ENST00000407356.1_Missense_Mutation_p.S247L Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 247 Ig-like C2-type 2. female pregnancy extracellular region p.S247L(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) ATAGGTGAATGAAGGGTAAAT 0.483000 34 257 0 0 1 0 0 RNF34 80196 broad.mit.edu 37 12 121867834 121867834 + Splice_Site SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:121867834G>A ENST00000392464.2 + 7 1130 c.1060_splice c.e7-1 p.R354_splice KDM2B_ENST00000377069.4_3'UTR|KDM2B_ENST00000377071.4_3'UTR|KDM2B_ENST00000542973.1_3'UTR|KDM2B_ENST00000536437.1_3'UTR Q969K3 RNF34_HUMAN ring finger protein 34, E3 ubiquitin protein ligase 8 apoptosis endomembrane system|membrane|nuclear speck ligase activity|zinc ion binding breast(1)|large_intestine(1) 2 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233) TCTCCGACAGGAATGTCTTCT 0.463000 4 29 0 0 1 0 0 OR13C3 138803 broad.mit.edu 37 9 107299020 107299020 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:107299020G>A ENST00000374781.2 - 1 117 c.75C>T c.(73-75)ttC>ttT p.F25F NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 CTGCTTTCAGGAAATCAAAAG 0.348000 8 37 0 0 1 0 0 AXDND1 126859 broad.mit.edu 37 1 179364291 179364291 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:179364291C>T ENST00000367618.3 + 11 1450 c.1063C>T c.(1063-1065)Cac>Tac p.H355Y AXDND1_ENST00000457238.2_Missense_Mutation_p.H355Y|AXDND1_ENST00000461179.2_3'UTR NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 355 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 AGAAAAAGCCCACAAGGATTT 0.353000 35 192 0 0 1 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141175 143141175 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:143141175C>T ENST00000332690.1 + 1 630 c.630C>T c.(628-630)ttC>ttT p.F210F EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 210 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) CTGTCTTTTTCATTTGCATGA 0.453000 36 153 0 0 1 0 0 STS 412 broad.mit.edu 37 X 7175566 7175566 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:7175566C>T ENST00000217961.4 + 4 554 c.334C>T c.(334-336)Ccc>Tcc p.P112S NM_000351.4 NP_000342.2 P08842 STS_HUMAN steroid sulfatase (microsomal), isozyme S 112 female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1) 27 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) GGGAGGACTTCCCACCGATGA 0.473000 Ichthyosis 17 40 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79026497 79026497 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:79026497G>A ENST00000446378.2 + 2 1940 c.1909G>A c.(1909-1911)Gaa>Aaa p.E637K NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 637 Glu-rich. perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AGAGAATGAGGAATTTGAGGC 0.463000 9 50 0 0 1 0 0 MOG 4340 broad.mit.edu 37 6 29634018 29634018 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:29634018C>T ENST00000376894.4 + 3 644 c.526C>T c.(526-528)Ctc>Ttc p.L176F MOG_ENST00000376898.3_Missense_Mutation_p.L176F|MOG_ENST00000483013.1_Missense_Mutation_p.L60F|MOG_ENST00000396704.3_Missense_Mutation_p.L176F|MOG_ENST00000431798.2_Missense_Mutation_p.L176F|MOG_ENST00000416766.2_Intron|MOG_ENST00000396701.2_Missense_Mutation_p.L176F|MOG_ENST00000376888.2_Missense_Mutation_p.L60F|MOG_ENST00000376917.3_Missense_Mutation_p.L176F|MOG_ENST00000376891.4_Missense_Mutation_p.L176F|MOG_ENST00000490427.1_Missense_Mutation_p.L60F|MOG_ENST00000494692.1_Missense_Mutation_p.L176F|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000533330.2_3'UTR Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein 176 cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 CCTCATCTTCCTCTGCCTGCA 0.542000 45 216 0 0 1 0 0 TRIM16 10626 broad.mit.edu 37 17 15532109 15532109 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:15532109G>A ENST00000578237.1 - 11 2370 c.1515C>T c.(1513-1515)atC>atT p.I505I TRIM16_ENST00000579219.1_3'UTR|TRIM16_ENST00000336708.7_Silent_p.I505I|TRIM16_ENST00000416464.2_Silent_p.I375I|TRIM16_ENST00000577886.1_Silent_p.I289I|RP11-385D13.1_ENST00000455584.2_Intron tripartite motif containing 16 breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1) 19 UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559) AGAAGGAAAGGATCCCTCCCG 0.522000 10 93 0 0 1 0 0 LDHB 3945 broad.mit.edu 37 12 21807538 21807538 + Missense_Mutation SNP T T C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:21807538T>C ENST00000396076.1 - 2 400 c.68A>G c.(67-69)aAg>aGg p.K23R LDHB_ENST00000350669.1_Missense_Mutation_p.K23R NM_001174097.1 NP_001167568.1 P07195 LDHB_HUMAN lactate dehydrogenase B 23 glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 26 NADH(DB00157) TACAGTGATCTTATTGTTTGG 0.413000 39 144 0 0 1 0 0 PLA2G6 8398 broad.mit.edu 37 22 38508285 38508285 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr22:38508285G>A ENST00000332509.3 - 17 2487 c.2304C>T c.(2302-2304)atC>atT p.I768I PLA2G6_ENST00000335539.3_Silent_p.I714I|PLA2G6_ENST00000402064.1_Silent_p.I714I NM_003560.2 NP_003551.2 O60733 PA2G6_HUMAN phospholipase A2, group VI (cytosolic, calcium-independent) 768 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 24 Melanoma(58;0.045) Quinacrine(DB01103) CATCCAGCATGATGTCCGTCC 0.622000 12 53 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31325207 31325207 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr18:31325207C>T ENST00000269197.5 + 12 5395 c.5395C>T c.(5395-5397)Ccg>Tcg p.P1799S NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1799 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CGTTGAAATTCCGCCCAGCTC 0.498000 25 93 0 0 1 0 0 APP 351 broad.mit.edu 37 21 27462274 27462274 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr21:27462274G>A ENST00000358918.3 - 3 539 c.340C>T c.(340-342)Ccc>Tcc p.P114S APP_ENST00000448388.2_Missense_Mutation_p.P79S|APP_ENST00000346798.3_Missense_Mutation_p.P114S|APP_ENST00000440126.3_Missense_Mutation_p.P109S|APP_ENST00000439274.2_Missense_Mutation_p.P58S|APP_ENST00000359726.3_Missense_Mutation_p.P114S|APP_ENST00000357903.3_Missense_Mutation_p.P114S|APP_ENST00000354192.3_Missense_Mutation_p.P58S|APP_ENST00000474136.1_5'UTR|APP_ENST00000348990.5_Missense_Mutation_p.P114S NM_001204301.1|NM_001204302.1 NP_001191230.1|NP_001191231.1 P05067 A4_HUMAN amyloid beta (A4) precursor protein 114 adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(209;0.00295) CAGCGGTAGGGAATCACAAAG 0.572000 19 121 0 0 1 0 0 SLC22A10 387775 broad.mit.edu 37 11 63064844 63064844 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:63064844C>T ENST00000544661.1 + 4 539 c.111C>T c.(109-111)ttC>ttT p.F37F SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000332793.6_Silent_p.F192F|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_5'UTR Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 192 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GCGCTGCCTTCGCTCCCACCT 0.428000 34 113 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222651 140222651 + Missense_Mutation SNP C C A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:140222651C>A ENST00000531613.1 + 1 1745 c.1745C>A c.(1744-1746)cCg>cAg p.P582Q PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P582Q|PCDHA1_ENST00000504120.2_Intron NM_018911.2 NP_061734.1 p.P582Q(2) NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGCTGGTGCCGCGGTCTGTG 0.677000 12 75 3.27435e-08 3.31968e-08 1 1 0 IFT172 26160 broad.mit.edu 37 2 27703012 27703012 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:27703012G>A ENST00000260570.3 - 9 893 c.790C>T c.(790-792)Cgg>Tgg p.R264W IFT172_ENST00000359466.6_Missense_Mutation_p.R264W|IFT172_ENST00000416524.2_Missense_Mutation_p.R243W NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 264 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) TTGAACACCCGAAGCCTGAAA 0.453000 4 46 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39023143 39023143 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:39023143G>A ENST00000355481.4 + 76 11271 c.11140G>A c.(11140-11142)Gat>Aat p.D3714N RYR1_ENST00000360985.3_Missense_Mutation_p.D3719N|RYR1_ENST00000359596.3_Missense_Mutation_p.D3719N NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3719 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) ACTGGATGAGGATTACCTGTA 0.572000 14 65 0 0 1 0 0 SELENBP1 8991 broad.mit.edu 37 1 151340704 151340704 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:151340704G>A ENST00000435071.1 - 5 722 c.260C>T c.(259-261)tCc>tTc p.S87F SELENBP1_ENST00000368868.5_Missense_Mutation_p.S151F|SELENBP1_ENST00000447402.3_Missense_Mutation_p.S89F|SELENBP1_ENST00000426705.2_Missense_Mutation_p.S193F|SELENBP1_ENST00000473693.1_5'UTR Q13228 SBP1_HUMAN selenium binding protein 1 151 protein transport cytosol|membrane|nucleolus protein binding|selenium binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GTCTCCCAGGGAGCTGATCAT 0.552000 56 216 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72146818 72146818 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr15:72146818G>A ENST00000356056.5 - 35 6718 c.6246C>T c.(6244-6246)ctC>ctT p.L2082L MYO9A_ENST00000444904.1_Silent_p.L2063L|MYO9A_ENST00000424560.1_Silent_p.L2153L|MYO9A_ENST00000564571.1_Silent_p.L2082L NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 2082 Rho-GAP.|Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TGTAGTTTATGAGCTTTTCCA 0.413000 15 145 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56473497 56473497 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:56473497G>A ENST00000291971.3 + 4 2178 c.2107G>A c.(2107-2109)Gat>Aat p.D703N NLRP8_ENST00000590542.1_Missense_Mutation_p.D703N NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 703 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TGCAACGAATGATAAGCTGGA 0.512000 12 175 0 0 1 0 0 OR2W5 441932 broad.mit.edu 37 1 247654807 247654807 + RNA SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:247654807C>T ENST00000522351.1 + 0 438 A6NFC9 OR2W5_HUMAN sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) ATGTGGCCGTCTGCCGGTCCC 0.587000 24 143 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103444977 103444977 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:103444977G>A ENST00000358392.2 - 32 2924 c.2607C>T c.(2605-2607)ttC>ttT p.F869F COL11A1_ENST00000370096.3_Silent_p.F857F|COL11A1_ENST00000353414.4_Silent_p.F818F|COL11A1_ENST00000512756.1_Silent_p.F741F NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 857 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GAAACCCAGGGAATCCAGTGG 0.343000 11 43 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48314304 48314304 + Nonsense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:48314304C>T ENST00000435803.1 + 17 5065 c.5041C>T c.(5041-5043)Cag>Tag p.Q1681* NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1681 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TTTAGTGGATCAGCTTGAACA 0.393000 23 129 0 0 1 0 0 DENND2A 27147 broad.mit.edu 37 7 140227224 140227224 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:140227224G>A ENST00000275884.6 - 14 2816 c.2399C>T c.(2398-2400)cCg>cTg p.P800L DENND2A_ENST00000496613.1_Missense_Mutation_p.P800L|DENND2A_ENST00000537639.1_Missense_Mutation_p.P800L Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 800 DENN. breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) TGGCAGCACCGGGATGTAGGT 0.662000 3 13 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178551987 178551987 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:178551987C>T ENST00000251582.7 - 19 3046 c.2945G>A c.(2944-2946)gGg>gAg p.G982E NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 982 TSP type-1 4. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GGACCAGGGCCCGGCTCGCCA 0.692000 10 58 0 0 1 0 0 KIR3DX1 90011 broad.mit.edu 37 19 55045210 55045210 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:55045210C>T ENST00000335056.3 + 3 368 c.330C>T c.(328-330)tcC>tcT p.S110S endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) AGAGCAACTCCCTGAAGATCA 0.552000 12 58 0 0 1 0 0 MRO 83876 broad.mit.edu 37 18 48327804 48327804 + Nonsense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr18:48327804C>T ENST00000428869.2 - 7 758 c.500G>A c.(499-501)tGg>tAg p.W167* MRO_ENST00000588444.1_Intron|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000431965.2_Intron|MRO_ENST00000398439.3_Nonsense_Mutation_p.W167*|MRO_ENST00000256425.2_Nonsense_Mutation_p.W167*|MRO_ENST00000436348.2_Nonsense_Mutation_p.W181* Q9BYG7 MSTRO_HUMAN maestro 167 nucleolus binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2) 10 Colorectal(6;0.0596) Colorectal(21;0.082) AAATTTTTTCCATTTCCTCCC 0.468000 12 89 0 0 1 0 0 PHRF1 57661 broad.mit.edu 37 11 605665 605665 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:605665C>T ENST00000264555.5 + 12 1523 c.1395C>T c.(1393-1395)tcC>tcT p.S465S PHRF1_ENST00000533464.1_Silent_p.S461S|PHRF1_ENST00000413872.2_Silent_p.S463S|PHRF1_ENST00000416188.2_Silent_p.S464S NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 465 RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 GGGCTCTGTCCCGGTCAGCCC 0.637000 17 87 0 0 1 0 0 GLTSCR1L 23506 broad.mit.edu 37 6 42832784 42832784 + Missense_Mutation SNP C C T rs149708370 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:42832784C>T ENST00000314073.5 + 13 3016 c.2840C>T c.(2839-2841)tCg>tTg p.S947L GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S947L GLTSCR1-like TCATCCAGATCGGATCATGGT 0.532000 20 75 0 0 1 0 0 GIMAP5 55340 broad.mit.edu 37 7 150437966 150437966 + Splice_Site SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:150437966G>A ENST00000358647.3 + 2 361 c.e2-1 GIMAP5_ENST00000479556.1_Intron NM_018384.4 NP_060854.2 GTPase, IMAP family member 5 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTTTATTCCAGGAGAGAATGG 0.438000 16 78 0 0 1 0 0 LY9 4063 broad.mit.edu 37 1 160786616 160786616 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:160786616G>A ENST00000263285.5 + 5 1335 c.1305G>A c.(1303-1305)agG>agA p.R435R LY9_ENST00000368041.2_Intron|LY9_ENST00000368035.1_Silent_p.R87R|LY9_ENST00000341032.4_Intron|LY9_ENST00000368040.1_Silent_p.R87R NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 435 Ig-like C2-type 2. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CTGTCAGCAGGAGTTCCCACC 0.498000 23 115 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597537 136597537 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:136597537C>T ENST00000531224.1 - 5 1378 c.1126G>A c.(1126-1128)Gaa>Aaa p.E376K BCLAF1_ENST00000527536.1_Missense_Mutation_p.E376K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E374K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E374K|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E374K NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 376 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TCCTGATCTTCCCATTCTCCC 0.423000 20 331 0 0 1 0 0 HBB 3043 broad.mit.edu 37 11 5248028 5248028 + Splice_Site SNP G G A rs63749977 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:5248028G>A ENST00000335295.3 - 2 269 c.92_splice c.e2-1 p.L32_splice NM_000518.4 NP_000509.1 P68871 HBB_HUMAN hemoglobin, beta 32 L -> P (in Yokohama; unstable). blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size haptoglobin-hemoglobin complex|hemoglobin complex heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1) 15 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) Iron Dextran(DB00893) ACCACCAGCAGCCTAAGGGTG 0.512000 Sickle Cell Trait 5 38 0 0 1 0 0 ATP2B1 490 broad.mit.edu 37 12 89998119 89998119 + Missense_Mutation SNP A A T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:89998119A>T ENST00000428670.3 - 16 2903 c.2447T>A c.(2446-2448)aTt>aAt p.I816N ATP2B1_ENST00000348959.3_Missense_Mutation_p.I816N|ATP2B1_ENST00000359142.3_Missense_Mutation_p.I816N|ATP2B1_ENST00000393164.2_Missense_Mutation_p.I559N|ATP2B1_ENST00000261173.2_Missense_Mutation_p.I816N P20020 AT2B1_HUMAN ATPase, Ca++ transporting, plasma membrane 1 816 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 AGTTCCAGCAATACCCTGTTA 0.294000 3 31 0 0 1 0 0 SCGB2B2 284402 broad.mit.edu 37 19 35085113 35085113 + Silent SNP G G A rs139007213 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:35085113G>A ENST00000601241.1 - 3 2313 c.213C>T c.(211-213)tcC>tcT p.S71S SCGB2B2_ENST00000595326.1_Intron|SCGB2B2_ENST00000379204.2_Silent_p.S71S Q4G0G5 SCGBL_HUMAN secretoglobin, family 2B, member 2 71 extracellular region binding TTTCTGTCACGGAGACATTGG 0.542000 27 82 0 0 1 0 0 COX7B2 170712 broad.mit.edu 37 4 46737025 46737025 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr4:46737025C>T ENST00000396533.1 - 4 435 c.185G>A c.(184-186)gGa>gAa p.G62E COX7B2_ENST00000543208.1_Missense_Mutation_p.G61E|COX7B2_ENST00000355591.3_Missense_Mutation_p.G62E|COX7B2_ENST00000302930.5_Missense_Mutation_p.G62E Q8TF08 CX7B2_HUMAN cytochrome c oxidase subunit VIIb2 62 integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity large_intestine(1)|lung(4) 5 CCATTCTATTCCAATCTGAGT 0.408000 19 89 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227919415 227919415 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:227919415C>T ENST00000396625.3 - 31 2962 c.2755G>A c.(2755-2757)Gaa>Aaa p.E919K COL4A4_ENST00000329662.7_Missense_Mutation_p.E919K NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 919 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TTTCCTCTTTCTCCGGGAAAA 0.517000 4 33 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34209041 34209041 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:34209041G>A ENST00000373381.4 - 14 2189 c.2013C>T c.(2011-2013)ttC>ttT p.F671F NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 631 CUB 4. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGATGACCAGGAAATCAAACT 0.617000 9 103 0 0 1 0 0 LYPD4 147719 broad.mit.edu 37 19 42341278 42341278 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:42341278G>A ENST00000330743.3 - 5 1891 c.680C>T c.(679-681)tCc>tTc p.S227F LYPD4_ENST00000343055.4_Missense_Mutation_p.S192F|LYPD4_ENST00000601246.1_Missense_Mutation_p.S192F NM_173506.4 NP_775777.3 Q6UWN0 LYPD4_HUMAN LY6/PLAUR domain containing 4 227 anchored to membrane|plasma membrane breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2) 12 TTGCCTGGAGGATGCTGCACC 0.493000 20 103 0 0 1 0 0 FBP1 2203 broad.mit.edu 37 9 97365738 97365738 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:97365738C>T ENST00000415431.1 - 8 1171 c.942G>A c.(940-942)agG>agA p.R314R FBP1_ENST00000375326.4_Silent_p.R314R NM_001127628.1 NP_001121100.1 P09467 F16P1_HUMAN fructose-1,6-bisphosphatase 1 314 gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding kidney(1)|liver(1)|lung(1) 3 Acute lymphoblastic leukemia(62;0.136) Adenosine monophosphate(DB00131) TCACCGGCGCCCTCTGGTGAA 0.602000 OREG0019330 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 48 0 0 1 0 0 SUCLA2 8803 broad.mit.edu 37 13 48542773 48542773 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr13:48542773G>A ENST00000378654.3 - 6 815 c.759C>T c.(757-759)acC>acT p.T253T SUCLA2_ENST00000544100.1_Silent_p.T119T|SUCLA2_ENST00000497202.1_5'UTR|SUCLA2_ENST00000534875.1_Silent_p.T195T|SUCLA2_ENST00000543413.1_Silent_p.T195T NM_003850.2 NP_003841.1 Q9P2R7 SUCB1_HUMAN succinate-CoA ligase, ADP-forming, beta subunit 253 ATP-grasp. succinyl-CoA pathway|tricarboxylic acid cycle mitochondrial matrix ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4) 15 all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;2.1e-06) Succinic acid(DB00139) TTTCTATCATGGTTGCATCGT 0.368000 5 49 0 0 1 0 0 UCK1 83549 broad.mit.edu 37 9 134405904 134405904 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:134405904G>A ENST00000372215.4 - 2 330 c.237C>T c.(235-237)gcC>gcT p.A79A UCK1_ENST00000372208.3_Silent_p.A79A|UCK1_ENST00000372210.3_Silent_p.A70A|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372211.3_Silent_p.A84A NM_001261450.1|NM_001261451.1|NM_031432.2 NP_001248379.1|NP_001248380.1|NP_113620.1 Q9HA47 UCK1_HUMAN uridine-cytidine kinase 1 79 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219) GTCCTTTCAAGGCCTTGGCCT 0.587000 26 90 0 0 1 0 0 IMPDH1 3614 broad.mit.edu 37 7 128040441 128040441 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:128040441G>A ENST00000338791.6 - 8 1082 c.732C>T c.(730-732)acC>acT p.T244T IMPDH1_ENST00000378717.4_Silent_p.T175T|IMPDH1_ENST00000470772.1_Silent_p.T158T|IMPDH1_ENST00000480861.1_Silent_p.T154T|IMPDH1_ENST00000343214.4_Silent_p.T134T|IMPDH1_ENST00000419067.2_Silent_p.T211T|IMPDH1_ENST00000348127.6_Silent_p.T208T|IMPDH1_ENST00000354269.5_Silent_p.T234T|IMPDH1_ENST00000496200.1_Silent_p.T134T NM_000883.3 NP_000874.2 P20839 IMDH1_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 1 159 GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3) 22 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) TGTCTCGGGAGGTGACGATGC 0.617000 3 28 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140579624 140579624 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:140579624G>A ENST00000354757.3 + 1 277 c.277G>A c.(277-279)Gag>Aag p.E93K PCDHB11_ENST00000536699.1_Intron NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 93 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTAGACAGGGAGGAGCTCTG 0.493000 11 96 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25370322 25370322 + Missense_Mutation SNP T T A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr13:25370322T>A ENST00000255324.5 + 11 1340 c.1288T>A c.(1288-1290)Ttc>Atc p.F430I RNF17_ENST00000255325.5_Missense_Mutation_p.F431I|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.F430I NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 430 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TCCTTGCCATTTCTACATTCG 0.348000 10 71 0 0 1 0 0 SLC38A4 55089 broad.mit.edu 37 12 47178371 47178371 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:47178371C>T ENST00000447411.1 - 6 653 c.447G>A c.(445-447)ccG>ccA p.P149P SLC38A4_ENST00000266579.4_Silent_p.P149P NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 149 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity p.P149P(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) CAATTTTTCCCGGCCATCCAA 0.333000 9 41 0 0 1 0 0 MN1 4330 broad.mit.edu 37 22 28193408 28193408 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr22:28193408C>T ENST00000302326.4 - 1 4078 c.3124G>A c.(3124-3126)Ggt>Agt p.G1042S NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 1042 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 GCGAACTCACCCACGTTTGGC 0.627000 T ETV6 """AML, meningioma""" 5 149 0 0 1 0 0 CWC25 54883 broad.mit.edu 37 17 36963057 36963057 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:36963057G>A ENST00000225428.4 - 7 1160 c.863C>T c.(862-864)tCc>tTc p.S288F CWC25_ENST00000536127.1_Missense_Mutation_p.S225F NM_017748.3 NP_060218.1 Q9NXE8 CWC25_HUMAN CWC25 spliceosome-associated protein homolog (S. cerevisiae) 288 central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 14 TCTGCCCAGGGATCGAGACCT 0.587000 5 53 0 0 1 0 0 VANGL1 81839 broad.mit.edu 37 1 116225054 116225054 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:116225054C>T ENST00000355485.2 + 5 1153 c.882C>T c.(880-882)ctC>ctT p.L294L VANGL1_ENST00000310260.3_Silent_p.L294L|VANGL1_ENST00000369509.1_Silent_p.L294L|VANGL1_ENST00000369510.3_Silent_p.L292L|VANGL1_ENST00000474344.1_3'UTR NM_001172411.1|NM_138959.2 NP_001165882.1|NP_620409.1 Q8TAA9 VANG1_HUMAN VANGL planar cell polarity protein 1 294 multicellular organismal development integral to membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1) 27 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) ACCCAAACCTCCTAACAGCCT 0.443000 16 68 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 131984449 131984449 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:131984449G>A ENST00000356920.5 + 4 958 c.864G>A c.(862-864)gtG>gtA p.V288V PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Silent_p.V298V|PLEKHB2_ENST00000404460.1_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 288 ATP binding AGCAAGTCGTGAAATTTTTAA 0.338000 7 184 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134968304 134968304 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:134968304C>T ENST00000398015.3 + 15 3187 c.2817C>T c.(2815-2817)tcC>tcT p.S939S EPHB1_ENST00000493838.1_Silent_p.S500S NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 939 SAM. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 GCTTCACCTCCCTCCAGCTGG 0.552000 24 155 0 0 1 0 0 RALGPS2 55103 broad.mit.edu 37 1 178846721 178846721 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:178846721G>A ENST00000367635.3 + 9 1034 c.696G>A c.(694-696)atG>atA p.M232I RALGPS2_ENST00000324778.4_Missense_Mutation_p.M197I|RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Missense_Mutation_p.M232I NM_152663.3 NP_689876.2 Q86X27 RGPS2_HUMAN Ral GEF with PH domain and SH3 binding motif 2 232 Ras-GEF. small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 CAAATTTAATGAATAATATCC 0.338000 12 53 0 0 1 0 0 ITGA7 3679 broad.mit.edu 37 12 56101443 56101443 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:56101443G>A ENST00000257880.7 - 1 243 c.24C>T c.(22-24)gaC>gaT p.D8D ITGA7_ENST00000555728.1_Silent_p.D8D|ITGA7_ENST00000553804.1_Silent_p.D8D|ITGA7_ENST00000347027.6_Silent_p.D8D|ITGA7_ENST00000257879.6_Silent_p.D8D|ITGA7_ENST00000394230.2_Silent_p.D8D|ITGA7_ENST00000394229.2_Silent_p.D8D|ITGA7_ENST00000452168.2_Intron Q13683 ITA7_HUMAN integrin, alpha 7 8 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CCCCCCAAGGGTCGCGGCTCC 0.662000 3 6 0 0 1 0 0 PIK3R5 23533 broad.mit.edu 37 17 8785182 8785182 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:8785182C>T ENST00000447110.1 - 16 2346 c.2222G>A c.(2221-2223)cGa>cAa p.R741Q PIK3R5_ENST00000581552.1_Missense_Mutation_p.R741Q|PIK3R5_ENST00000584803.1_Missense_Mutation_p.R740Q NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 741 Interaction with G beta gamma proteins (By similarity). platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 CCAGCGACTTCGTCCACTGAT 0.612000 9 35 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123333000 123333000 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:123333000C>T ENST00000360772.3 - 34 5922 c.5544G>A c.(5542-5544)gtG>gtA p.V1848V MYLK_ENST00000359169.1_Silent_p.V1848V|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000583087.1_Silent_p.V139V|MYLK-AS1_ENST00000470449.1_RNA|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000475616.1_Silent_p.V1899V|MYLK_ENST00000418370.2_Silent_p.V139V|MYLK_ENST00000360304.3_Silent_p.V1899V|MYLK_ENST00000346322.5_Silent_p.V1830V|MYLK_ENST00000578202.1_Silent_p.V138V|MYLK_ENST00000354792.5_Silent_p.V699V Q15746 MYLK_HUMAN myosin light chain kinase 1899 Ig-like C2-type 9. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CCATCGTTTCCACAATGAGCT 0.453000 42 206 0 0 1 0 0 COL17A1 1308 broad.mit.edu 37 10 105815688 105815688 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:105815688C>T ENST00000353479.5 - 18 1829 c.1539G>A c.(1537-1539)ggG>ggA p.G513G COL17A1_ENST00000480127.1_5'UTR|COL17A1_ENST00000369733.3_Silent_p.G513G NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 513 Nonhelical region (NC16). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) CCATGCTGTCCCCATAGGGCA 0.592000 39 135 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179545869 179545869 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:179545869C>T ENST00000589042.1 - 138 33501 c.33277G>A c.(33277-33279)Gaa>Aaa p.E11093K TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E10776K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9849K|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10776 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CGTATTTTTTCCTCAAAAACT 0.318000 4 23 0 0 1 0 0 SFXN5 94097 broad.mit.edu 37 2 73188368 73188368 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:73188368G>A ENST00000410065.1 - 11 653 c.635C>T c.(634-636)tCc>tTc p.S212F SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000272433.2_Silent_p.L279L Q8TD22 SFXN5_HUMAN sideroflexin 5 0 iron ion homeostasis integral to membrane cation transmembrane transporter activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1) 9 GTGCCTGCAGGAGAGCCGTCC 0.687000 5 29 0 0 1 0 0 SH3BP5 9467 broad.mit.edu 37 3 15311315 15311315 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:15311315C>T ENST00000383791.3 - 4 620 c.400G>A c.(400-402)Gag>Aag p.E134K SH3BP5_ENST00000426925.1_5'UTR|SH3BP5_ENST00000408919.3_5'UTR|SH3BP5_ENST00000253688.5_5'UTR NM_004844.4 NP_004835.2 O60239 3BP5_HUMAN SH3-domain binding protein 5 (BTK-associated) 134 intracellular signal transduction mitochondrion protein kinase inhibitor activity|SH3 domain binding NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 12 GAGATGGTCTCCTTGGCGGCA 0.607000 41 222 0 0 1 0 0 IDO2 169355 broad.mit.edu 37 8 39871143 39871143 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:39871143C>T ENST00000502986.2 + 10 1060 c.818C>T c.(817-819)cCc>cTc p.P273L IDO2_ENST00000389060.4_Missense_Mutation_p.P260L|IDO2_ENST00000343295.4_3'UTR NM_194294.2 NP_919270.2 Q6ZQW0 I23O2_HUMAN indoleamine 2,3-dioxygenase 2 260 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 18 TCCCAAGAGCCCCTGAAATAC 0.502000 18 91 0 0 1 0 0 SLC6A20 54716 broad.mit.edu 37 3 45823576 45823576 + Splice_Site SNP G G A rs141869919 byFrequency TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:45823576G>A ENST00000358525.4 - 2 376 c.262_splice c.e2+1 p.V87_splice SLC6A20_ENST00000456124.2_Splice_Site_p.V87_splice|SLC6A20_ENST00000353278.4_Splice_Site_p.V87_splice NM_020208.3 NP_064593.1 Q9NP91 S6A20_HUMAN solute carrier family 6 (proline IMINO transporter), member 20 87 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) CCCACGTACCGACACCACTGA 0.662000 5 14 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51200372 51200372 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:51200372C>T ENST00000293441.1 - 14 1963 c.1945G>A c.(1945-1947)Gat>Aat p.D649N SHANK1_ENST00000359082.3_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.D649N NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 649 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CCAATCCCATCCATTAAGCTT 0.647000 16 224 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1093772 1093772 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:1093772C>T ENST00000441003.2 + 30 5618 c.5591C>T c.(5590-5592)tCc>tTc p.S1864F MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Missense_Mutation_p.S152F NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1878 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) ACCTCTCGGTCCACCTCTTCC 0.627000 42 384 0 0 1 0 0 ZBTB46 140685 broad.mit.edu 37 20 62421988 62421988 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr20:62421988G>A ENST00000245663.4 - 2 273 c.123C>T c.(121-123)gtC>gtT p.V41V ZBTB46_ENST00000302995.2_Silent_p.V41V|ZBTB46_ENST00000395104.1_Silent_p.V41V NM_025224.3 NP_079500.2 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 41 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) GCGCCTTGAAGACCTTGCCCT 0.637000 12 64 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122261757 122261757 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:122261757G>A ENST00000334010.7 - 5 1303 c.882C>T c.(880-882)ccC>ccT p.P294P CADPS2_ENST00000412584.2_Silent_p.P294P|CADPS2_ENST00000313070.7_Silent_p.P294P|CADPS2_ENST00000449022.2_Silent_p.P294P NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 294 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 CTATAAATTTGGGGAATTTTC 0.274000 6 27 0 0 1 0 0 KDM4C 23081 broad.mit.edu 37 9 7049150 7049150 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:7049150G>A ENST00000381309.3 + 17 2939 c.2374G>A c.(2374-2376)Gaa>Aaa p.E792K KDM4C_ENST00000543771.1_Missense_Mutation_p.E792K|KDM4C_ENST00000428870.2_Missense_Mutation_p.E479K|KDM4C_ENST00000536108.1_Intron|KDM4C_ENST00000442236.2_Missense_Mutation_p.E537K|KDM4C_ENST00000535193.1_Missense_Mutation_p.E814K|KDM4C_ENST00000381306.3_Missense_Mutation_p.E792K NM_015061.3 NP_055876.2 Q9H3R0 KDM4C_HUMAN lysine (K)-specific demethylase 4C 792 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 TAATGTCCCAGAAAGGACACA 0.403000 17 52 0 0 1 0 0 RPL31P11 641311 broad.mit.edu 37 1 161654785 161654785 + RNA SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:161654785G>A ENST00000426558.1 - 0 257 NR_002595.1 CTTTGGCCCAGACAGCTTTGT 0.483000 5 22 0 0 1 0 0 MCMDC2 157777 broad.mit.edu 37 8 67803270 67803270 + Nonsense_Mutation SNP C C A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:67803270C>A ENST00000422365.2 + 10 1415 c.1244C>A c.(1243-1245)tCa>tAa p.S415* MCMDC2_ENST00000396592.3_Nonsense_Mutation_p.S415*|MCMDC2_ENST00000313616.5_Nonsense_Mutation_p.S415*|MCMDC2_ENST00000541540.1_Nonsense_Mutation_p.S352* NM_173518.4 NP_775789.3 Q4G0Z9 CH045_HUMAN minichromosome maintenance domain containing 2 415 DNA replication ATP binding|DNA binding endometrium(2)|kidney(2)|lung(5) 9 GACTTGGCTTCACACAAAAAA 0.373000 11 72 9.31168e-06 9.4023e-06 1 1 0 TIMD4 91937 broad.mit.edu 37 5 156390187 156390187 + Missense_Mutation SNP A A T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:156390187A>T ENST00000274532.2 - 1 79 c.23T>A c.(22-24)cTc>cAc p.L8H TIMD4_ENST00000407087.3_Missense_Mutation_p.L8H NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 8 integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CATCAGCCAGAGAATGAGAGG 0.443000 17 96 0 0 1 0 0 GULP1 51454 broad.mit.edu 37 2 189449114 189449114 + Silent SNP T T C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:189449114T>C ENST00000409580.1 + 11 1446 c.732T>C c.(730-732)agT>agC p.S244S GULP1_ENST00000409830.1_Silent_p.S244S|GULP1_ENST00000359135.3_Silent_p.S244S|GULP1_ENST00000409805.1_Silent_p.S141S|GULP1_ENST00000409843.1_Silent_p.S244S|GULP1_ENST00000409609.1_Silent_p.S244S Q9UBP9 GULP1_HUMAN GULP, engulfment adaptor PTB domain containing 1 244 apoptosis|lipid transport|phagocytosis, engulfment cytoplasm|intracellular membrane-bounded organelle signal transducer activity endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158) CAGTACCTAGTAGATCTACTG 0.373000 10 76 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56357837 56357837 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:56357837G>A ENST00000370754.5 - 84 20351 c.20352C>T c.(20350-20352)ctC>ctT p.L6784L DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Silent_p.L6606L|DST_ENST00000370788.2_Silent_p.L4409L|DST_ENST00000361203.3_Silent_p.L6495L|DST_ENST00000421834.2_Silent_p.L4518L|DST_ENST00000446842.2_Silent_p.L6280L|DST_ENST00000244364.6_Silent_p.L4192L Q03001 DYST_HUMAN dystonin 6604 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TGAAGTCTTGGAGAGAATTGT 0.428000 5 25 0 0 1 0 0 BRINP1 1620 broad.mit.edu 37 9 121929509 121929509 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:121929509C>T ENST00000265922.3 - 8 2600 c.2139G>A c.(2137-2139)ggG>ggA p.G713G DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 713 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GCTGGGGTTTCCCCGGGGCCA 0.552000 26 74 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 19015505 19015505 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:19015505G>A ENST00000406451.3 + 25 3240 c.3090G>A c.(3088-3090)gaG>gaA p.E1030E HDAC9_ENST00000441542.2_Silent_p.E1033E|HDAC9_ENST00000401921.1_Silent_p.E989E NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 0 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) TGCAAGAGGAGACAGAGACCG 0.522000 9 63 0 0 1 0 0 PNKP 11284 broad.mit.edu 37 19 50370393 50370393 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:50370393G>A ENST00000322344.3 - 2 178 c.69C>T c.(67-69)ttC>ttT p.F23F PNKP_ENST00000600910.1_Silent_p.F23F|PNKP_ENST00000596014.1_Silent_p.F23F|PNKP_ENST00000600573.1_Silent_p.F23F|PNKP_ENST00000595792.1_5'UTR NM_007254.3 NP_009185.2 Q96T60 PNKP_HUMAN polynucleotide kinase 3'-phosphatase 23 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) CCGAGGGCAGGAAGATGGGGG 0.711000 Other BER factors 11 43 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25442629 25442629 + RNA SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr15:25442629C>T ENST00000424208.1 + 0 1605 SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 TCAGGCCCTTCCTGATGCCCT 0.597000 10 34 0 0 1 0 0 ASIC1 41 broad.mit.edu 37 12 50471847 50471847 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:50471847C>T ENST00000228468.4 + 5 1159 c.774C>T c.(772-774)atC>atT p.I258I ASIC1_ENST00000552438.1_Silent_p.I292I|ASIC1_ENST00000447966.2_Silent_p.I258I NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 258 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CTCCTTTCATCGACCAGCTGG 0.612000 35 172 0 0 1 0 0 FRMD3 257019 broad.mit.edu 37 9 85928607 85928607 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:85928607C>T ENST00000304195.3 - 7 858 c.652G>A c.(652-654)Gaa>Aaa p.E218K FRMD3_ENST00000376438.1_Missense_Mutation_p.E218K|FRMD3_ENST00000376434.1_Missense_Mutation_p.E24K NM_001244960.1|NM_174938.5 NP_001231889.1|NP_777598.3 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 218 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding p.E218K(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 30 CCGTAGGTTTCCAAAGTGTGA 0.463000 46 173 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154157222 154157222 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:154157222C>T ENST00000360256.4 - 14 5043 c.4843G>A c.(4843-4845)Gat>Aat p.D1615N NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1615 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AAAATGGTATCCTTTTTCTTA 0.413000 28 76 0 0 1 0 0 AC007040.8 0 broad.mit.edu 37 2 71256137 71256137 + RNA SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:71256137C>T ENST00000434990.1 - 0 61 GCAGCCCATCCTCGCTGGGCT 0.587000 6 31 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 96963089 96963089 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:96963089C>T ENST00000389672.5 + 5 1602 c.1564C>T c.(1564-1566)Ccc>Tcc p.P522S EPHA6_ENST00000470610.2_Missense_Mutation_p.P522S NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 427 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 GAGTTTTTCTCCCAAGCCATT 0.388000 20 118 0 0 1 0 0 CACNG7 59284 broad.mit.edu 37 19 54445475 54445475 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:54445475C>T ENST00000391767.1 + 6 968 c.756C>T c.(754-756)atC>atT p.I252I CACNG7_ENST00000222212.2_Silent_p.I252I P62955 CCG7_HUMAN calcium channel, voltage-dependent, gamma subunit 7 252 GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) ACGTGTCCATCCAAATGACGC 0.687000 63 221 0 0 1 0 0 DPYSL2 1808 broad.mit.edu 37 8 26505250 26505250 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:26505250C>T ENST00000311151.5 + 11 1627 c.1215C>T c.(1213-1215)tcC>tcT p.S405S DPYSL2_ENST00000521913.1_Silent_p.S369S|DPYSL2_ENST00000523027.1_Silent_p.S369S NM_001386.5 NP_001377.1 Q16555 DPYL2_HUMAN dihydropyrimidinase-like 2 405 axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1) 20 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) CTGTGGGATCCGATGCCGACC 0.537000 20 107 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39230485 39230485 + Missense_Mutation SNP C C T rs145798293 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:39230485C>T ENST00000340369.3 - 2 680 c.452G>A c.(451-453)gGa>gAa p.G151E XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.G151E NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 151 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) ACGAACGTCTCCTCCACCTGG 0.622000 10 72 0 0 1 0 0 HDAC8 55869 broad.mit.edu 37 X 71787622 71787622 + Silent SNP A A G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:71787622A>G ENST00000373556.3 - 5 513 c.462T>C c.(460-462)ctT>ctC p.L154L HDAC8_ENST00000373559.4_Intron|HDAC8_ENST00000439122.2_Intron|HDAC8_ENST00000373573.3_Intron|HDAC8_ENST00000373554.1_3'UTR|HDAC8_ENST00000429103.2_Intron|HDAC8_ENST00000373571.1_Intron|HDAC8_ENST00000373589.4_Intron|HDAC8_ENST00000373560.2_Intron|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000478743.1_Intron|HDAC8_ENST00000373561.4_Intron NM_001166422.1 NP_001159894.1 Q9BY41 HDAC8_HUMAN histone deacetylase 8 0 Histone deacetylase. chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nuclear chromosome histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1) 10 Renal(35;0.156) Vorinostat(DB02546) ATGCCTTGTAAAGTGCCACAT 0.383000 26 41 0 0 1 0 0 JADE2 23338 broad.mit.edu 37 5 133914515 133914515 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:133914515G>A ENST00000395003.1 + 11 2060 c.1881G>A c.(1879-1881)aaG>aaA p.K627K PHF15_ENST00000282605.4_Silent_p.K671K|PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000361895.2_Silent_p.K628K NM_015288.4 NP_056103.4 Q9NQC1 JADE2_HUMAN 627 Pro-rich. histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCCCCAAGAAGACCTGGGGCC 0.657000 9 48 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140284901 140284901 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:140284901G>A ENST00000458420.3 + 17 2864 c.2674G>A c.(2674-2676)Gaa>Aaa p.E892K NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 892 Glu-rich (highly acidic). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CCAGAAACATGAAGGACCAGG 0.488000 HNSCC(16;0.037) 7 35 0 0 1 0 0 RHBDF1 64285 broad.mit.edu 37 16 111685 111685 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:111685G>A ENST00000262316.6 - 9 1360 c.1218C>T c.(1216-1218)ttC>ttT p.F406F RHBDF1_ENST00000454039.2_Silent_p.F406F NM_022450.3 NP_071895.3 Q96CC6 RHDF1_HUMAN rhomboid 5 homolog 1 (Drosophila) 406 cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane growth factor binding|serine-type endopeptidase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 18 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) GCCAGTAGGTGAAGAAGGGCC 0.672000 9 52 0 0 1 0 0 SRSF5 6430 broad.mit.edu 37 14 70234911 70234911 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr14:70234911C>T ENST00000553521.1 + 3 1491 c.38C>T c.(37-39)cCa>cTa p.P13L SRSF5_ENST00000451983.2_Missense_Mutation_p.P13L|SRSF5_ENST00000557154.1_Missense_Mutation_p.P13L|SRSF5_ENST00000553548.1_Missense_Mutation_p.P13L|SRSF5_ENST00000394366.2_Missense_Mutation_p.P13L|SRSF5_ENST00000553635.1_Missense_Mutation_p.P13L|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000554021.1_Missense_Mutation_p.P13L|SRSF5_ENST00000555349.1_Missense_Mutation_p.P13L Q13243 SRSF5_HUMAN serine/arginine-rich splicing factor 5 13 RRM 1. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding large_intestine(1)|liver(1) 2 AGACTAAATCCAGCGGCCAGG 0.428000 12 80 0 0 1 0 0 FSHR 2492 broad.mit.edu 37 2 49189956 49189956 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:49189956C>T ENST00000406846.2 - 10 2123 c.2004G>A c.(2002-2004)agG>agA p.R668R FSHR_ENST00000541117.1_Silent_p.R404R|FSHR_ENST00000346173.3_Silent_p.R606R|FSHR_ENST00000304421.4_Silent_p.R642R NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 668 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) AGTGGCCATTCCTTGGATGGG 0.438000 Gonadal Dysgenesis, 46 XX 11 72 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152187841 152187841 + Silent SNP G G A rs144489730 byFrequency TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:152187841G>A ENST00000368801.2 - 3 6339 c.6264C>T c.(6262-6264)tcC>tcT p.S2088S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2088 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AAGACCGACCGGAGCCAGACC 0.622000 22 109 0 0 1 0 0 CHST5 23563 broad.mit.edu 37 16 75563644 75563644 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:75563644G>A ENST00000336257.3 - 3 2033 c.639C>T c.(637-639)ccC>ccT p.P213P CHST5_ENST00000541075.1_Silent_p.P219P|RP11-77K12.7_ENST00000460606.1_3'UTR NM_024533.4 NP_078809.2 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 213 N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity p.P213P(1) cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24 GGTTGAGCGCGGGGTCGCTGA 0.711000 25 70 0 0 1 0 0 MYO19 80179 broad.mit.edu 37 17 34858987 34858987 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:34858987G>A ENST00000431794.3 - 21 2552 c.2030C>T c.(2029-2031)cCt>cTt p.P677L MYO19_ENST00000268852.9_Missense_Mutation_p.P477L NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 677 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GGATGTGCAAGGATGAAGCCT 0.502000 23 273 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80136772 80136772 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:80136772C>T ENST00000466387.1 + 11 1629 c.905C>T c.(904-906)tCc>tTc p.S302F CTNNA2_ENST00000540488.1_Missense_Mutation_p.S302F|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S302F|CTNNA2_ENST00000402739.4_Missense_Mutation_p.S302F|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S336F|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S302F P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 302 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 TTCCGGCCGTCCCTGGAGGAG 0.592000 9 82 0 0 1 0 0 HBP1 26959 broad.mit.edu 37 7 106822999 106822999 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:106822999C>T ENST00000222574.4 + 3 537 c.351C>T c.(349-351)atC>atT p.I117I HBP1_ENST00000468410.1_Silent_p.I117I|HBP1_ENST00000485846.1_Silent_p.I117I NM_012257.3 NP_036389.2 O60381 HBP1_HUMAN HMG-box transcription factor 1 117 cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus DNA binding large_intestine(4)|lung(3)|prostate(1)|skin(2) 10 TGGCAAATATCGCGACCAGTC 0.373000 5 43 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37618599 37618599 + Missense_Mutation SNP A A C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:37618599A>C ENST00000447079.4 + 1 308 c.275A>C c.(274-276)gAc>gCc p.D92A CDK12_ENST00000430627.2_Missense_Mutation_p.D92A NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 92 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 TTCAAACTAGACCGAAGGGAG 0.527000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 8 52 0 0 1 0 0 HSPD1 3329 broad.mit.edu 37 2 198363463 198363463 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:198363463C>T ENST00000388968.3 - 2 377 c.110G>A c.(109-111)cGa>cAa p.R37Q HSPD1_ENST00000345042.2_Missense_Mutation_p.R37Q|HSPD1_ENST00000544407.1_Missense_Mutation_p.R37Q NM_002156.4 NP_002147.2 P10809 CH60_HUMAN heat shock 60kDa protein 1 (chaperonin) 37 'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1) 17 Epithelial(96;0.225) CATTAAGGCTCGGGCATCTGC 0.463000 14 146 0 0 1 0 0 ABLIM3 22885 broad.mit.edu 37 5 148596539 148596539 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:148596539C>T ENST00000506113.1 + 7 1169 c.687C>T c.(685-687)taC>taT p.Y229Y ABLIM3_ENST00000508983.1_Silent_p.Y229Y|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000309868.7_Silent_p.Y229Y|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000504238.1_Silent_p.Y229Y|ABLIM3_ENST00000326685.7_Silent_p.Y229Y|ABLIM3_ENST00000356541.3_Silent_p.Y229Y|RP11-331K21.1_ENST00000522685.1_RNA O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 229 LIM zinc-binding 4. axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAAGCACTACCACCCAACCT 0.517000 9 64 0 0 1 0 0 FAM221B 392307 broad.mit.edu 37 9 35819948 35819948 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:35819948C>T ENST00000423537.2 - 4 1061 c.792G>A c.(790-792)cgG>cgA p.R264R TMEM8B_ENST00000377996.1_Intron NM_001012446.3 NP_001012448.2 A6H8Z2 CI128_HUMAN family with sequence similarity 221, member B 264 endometrium(2)|kidney(1)|lung(4) 7 CATCCCCAATCCGGAAACAGT 0.512000 12 54 0 0 1 0 0 ZNF93 81931 broad.mit.edu 37 19 20045506 20045506 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:20045506C>T ENST00000343769.5 + 4 1770 c.1742C>T c.(1741-1743)tCt>tTt p.S581F AC007204.2_ENST00000592245.1_lincRNA NM_031218.3 NP_112495.2 P35789 ZNF93_HUMAN zinc finger protein 93 581 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 24 GCAACCCTTTCTTCACATAAG 0.378000 15 53 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152329565 152329565 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:152329565C>T ENST00000388718.5 - 3 769 c.697G>A c.(697-699)Gaa>Aaa p.E233K FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 233 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTTTCCTTTCCCAACTGTTT 0.438000 69 267 0 0 1 0 0 STARD13 90627 broad.mit.edu 37 13 33703093 33703093 + Missense_Mutation SNP A A C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr13:33703093A>C ENST00000336934.5 - 5 1837 c.1721T>G c.(1720-1722)gTa>gGa p.V574G STARD13_ENST00000399365.3_Missense_Mutation_p.V456G|STARD13_ENST00000255486.4_Missense_Mutation_p.V566G NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 574 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) AGAGGCCCCTACACCAGAATC 0.453000 9 69 0 0 1 0 0 BAI2 576 broad.mit.edu 37 1 32205232 32205232 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:32205232G>A ENST00000373658.3 - 15 2513 c.2172C>T c.(2170-2172)atC>atT p.I724I BAI2_ENST00000527361.1_Silent_p.I724I|BAI2_ENST00000398556.3_Silent_p.I672I|BAI2_ENST00000398542.1_Silent_p.I657I|BAI2_ENST00000257070.4_Silent_p.I724I|BAI2_ENST00000440175.2_Silent_p.I366I|BAI2_ENST00000398547.1_Silent_p.I657I|BAI2_ENST00000373655.2_Silent_p.I724I|BAI2_ENST00000398538.1_Silent_p.I712I NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 724 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) GCTGAATGCTGATCACTGCAG 0.607000 6 69 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767897 77767897 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:77767897G>A ENST00000521891.2 + 10 9188 c.8740G>A c.(8740-8742)Gga>Aga p.G2914R ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2869R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2869R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2888R NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2869 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAATCCATTCGGATCCAGCAA 0.512000 HNSCC(33;0.089) 11 38 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82582783 82582783 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:82582783C>T ENST00000423517.2 - 5 7823 c.7486G>A c.(7486-7488)Gga>Aga p.G2496R PCLO_ENST00000333891.8_Missense_Mutation_p.G2496R NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2427 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AATACAAGTCCAGATGGAATT 0.453000 16 89 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20530690 20530690 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr4:20530690C>T ENST00000504154.1 + 16 1833 c.1581C>T c.(1579-1581)atC>atT p.I527I SLIT2_ENST00000273739.5_Silent_p.I531I|SLIT2_ENST00000503823.1_Silent_p.I519I|SLIT2_ENST00000503837.1_Silent_p.I523I NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 527 LRRNT 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TCAACAAAATCCCGGAGCACA 0.443000 29 77 0 0 1 0 0 PAX4 5078 broad.mit.edu 37 7 127255586 127255586 + Splice_Site SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:127255586C>T ENST00000338516.3 - 2 13 c.e2-1 PAX4_ENST00000341640.2_5'UTR|PAX4_ENST00000463946.1_5'UTR|PAX4_ENST00000378740.2_Splice_Site O43316 PAX4_HUMAN paired box 4 cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 CTGCTGATCCCTGGGCGTGAG 0.637000 21 118 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53358364 53358364 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:53358364G>A ENST00000566029.1 + 39 8412 c.8203G>A c.(8203-8205)Gaa>Aaa p.E2735K CHD9_ENST00000398510.3_Missense_Mutation_p.E2751K|CHD9_ENST00000564845.1_Missense_Mutation_p.E2735K|CHD9_ENST00000447540.1_Missense_Mutation_p.E2736K Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2751 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) TAAGGAGTCAGAAGGAAAAAC 0.453000 11 56 0 0 1 0 0 ZNF716 441234 broad.mit.edu 37 7 57528735 57528735 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:57528735G>A ENST00000420713.1 + 4 680 c.568G>A c.(568-570)Gat>Aat p.D190N NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 ATGTAAAAACGATGGCAAATC 0.328000 3 11 0 0 1 0 0 CELF6 60677 broad.mit.edu 37 15 72580713 72580713 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr15:72580713G>A ENST00000287202.5 - 11 1508 c.1254C>T c.(1252-1254)ccC>ccT p.P418P CELF6_ENST00000567083.1_Silent_p.P391P|CELF6_ENST00000539635.1_Silent_p.P279P|CELF6_ENST00000543764.2_Silent_p.P281P|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000395258.2_Silent_p.P305P|RP11-106M3.3_ENST00000570175.1_RNA NM_052840.4 NP_443072.3 Q96J87 CELF6_HUMAN CUGBP, Elav-like family member 6 418 RRM 3. mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus nucleotide binding|RNA binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2) 13 CGGCTCCAAAGGGCAGGAATG 0.532000 22 147 0 0 1 0 0 ART1 417 broad.mit.edu 37 11 3681006 3681006 + Nonsense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:3681006G>A ENST00000250693.1 + 3 358 c.257G>A c.(256-258)tGg>tAg p.W86* NM_004314.2 NP_004305.2 P52961 NAR1_HUMAN ADP-ribosyltransferase 1 86 protein ADP-ribosylation anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1) 8 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195) Becaplermin(DB00102) AGCAGCCAATGGCAGGAGCGT 0.647000 5 34 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8825245 8825245 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr18:8825245C>T ENST00000359865.3 + 15 3879 c.3737C>T c.(3736-3738)tCc>tTc p.S1246F SOGA2_ENST00000400050.3_Missense_Mutation_p.S1205F|SOGA2_ENST00000517570.1_Missense_Mutation_p.S1205F|SOGA2_ENST00000306329.11_Missense_Mutation_p.S1565F|SOGA2_ENST00000306285.7_Missense_Mutation_p.S571F|SOGA2_ENST00000518815.1_Missense_Mutation_p.S571F NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1556 CCCAGGCACTCCCGGGACTAT 0.652000 9 23 0 0 1 0 0 CCIN 881 broad.mit.edu 37 9 36170243 36170243 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:36170243C>T ENST00000335119.2 + 1 855 c.744C>T c.(742-744)tcC>tcT p.S248S NM_005893.2 NP_005884.2 Q13939 CALI_HUMAN calicin 248 cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4) 21 STAD - Stomach adenocarcinoma(86;0.228) ACACCTCATCCCATACAACCC 0.522000 8 28 0 0 1 0 0 ENTPD8 377841 broad.mit.edu 37 9 140332642 140332642 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:140332642G>A ENST00000371506.2 - 2 279 c.96C>T c.(94-96)gcC>gcT p.A32A ENTPD8_ENST00000344119.2_Silent_p.A32A|ENTPD8_ENST00000472938.1_Silent_p.A32A NM_001033113.1 NP_001028285.1 Q5MY95 ENTP8_HUMAN ectonucleoside triphosphate diphosphohydrolase 8 32 integral to membrane|plasma membrane ATP binding biliary_tract(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898) GCACGCTGGTGGCCTCCACCA 0.687000 3 12 0 0 1 0 0 OR5J2 282775 broad.mit.edu 37 11 55944934 55944934 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:55944934G>A ENST00000312298.1 + 1 841 c.841G>A c.(841-843)Ggg>Agg p.G281R NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) CTATACGCTAGGGATTCCCAT 0.388000 6 55 0 0 1 0 0 KRTAP10-11 386678 broad.mit.edu 37 21 46066996 46066996 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr21:46066996C>T ENST00000334670.8 + 1 666 c.621C>T c.(619-621)gtC>gtT p.V207V TSPEAR_ENST00000323084.4_Intron NM_198692.2 NP_941965.2 P60411 KR109_HUMAN keratin associated protein 10-11 201 25 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1) 12 GTGTGCCTGTCTGCTCTAGGG 0.627000 31 338 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41566302 41566302 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:41566302C>T ENST00000396942.1 - 17 2075 c.1992G>A c.(1990-1992)ggG>ggA p.G664G ANK1_ENST00000396945.1_Silent_p.G664G|ANK1_ENST00000265709.8_Silent_p.G697G|ANK1_ENST00000379758.2_Silent_p.G664G|ANK1_ENST00000347528.4_Silent_p.G664G|ANK1_ENST00000289734.7_Silent_p.G664G|ANK1_ENST00000352337.4_Silent_p.G664G P16157 ANK1_HUMAN ankyrin 1, erythrocytic 664 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CTACCTTGTTCCCCAGGTTGC 0.567000 31 199 0 0 1 0 0 JPH2 57158 broad.mit.edu 37 20 42788353 42788353 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr20:42788353C>T ENST00000372980.3 - 2 1946 c.1074G>A c.(1072-1074)aaG>aaA p.K358K NM_020433.4 NP_065166.2 Q9BR39 JPH2_HUMAN junctophilin 2 358 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CCTTGTTGCTCTTGAGCTGCA 0.662000 14 55 0 0 1 0 0 ADAM22 53616 broad.mit.edu 37 7 87785249 87785249 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:87785249C>T ENST00000398204.4 + 22 2158 c.1835C>T c.(1834-1836)cCa>cTa p.P612L ADAM22_ENST00000315984.7_Missense_Mutation_p.P612L|ADAM22_ENST00000398201.4_Missense_Mutation_p.P612L|ADAM22_ENST00000265727.7_Missense_Mutation_p.P612L|ADAM22_ENST00000398209.3_Missense_Mutation_p.P612L NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 612 Cys-rich. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) GGCAATATCCCAAGGCTTGGA 0.368000 25 154 0 0 1 0 0 LRRC61 65999 broad.mit.edu 37 7 150034718 150034718 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:150034718C>T ENST00000359623.4 + 3 1356 c.768C>T c.(766-768)tcC>tcT p.S256S LRRC61_ENST00000323078.7_Silent_p.S256S|LRRC61_ENST00000493307.1_Silent_p.S256S NM_001142928.1 NP_001136400.1 Q9BV99 LRC61_HUMAN leucine rich repeat containing 61 256 endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(82;0.011) CCACCTCTTCCTTCGTCTTCT 0.657000 7 20 0 0 1 0 0 TRIM9 114088 broad.mit.edu 37 14 51446259 51446259 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr14:51446259C>T ENST00000298355.3 - 9 3037 c.1916G>A c.(1915-1917)gGa>gAa p.G639E TRIM9_ENST00000338969.5_Missense_Mutation_p.G720E NM_015163.5 NP_055978.4 Q9C026 TRIM9_HUMAN tripartite motif containing 9 639 B30.2/SPRY. proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) TGTGATCCCTCCCTCAGTTCT 0.433000 40 139 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228462334 228462334 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:228462334G>A ENST00000570156.2 + 24 6944 c.6870G>A c.(6868-6870)gaG>gaA p.E2290E RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000284548.11_Silent_p.E1915E|OBSCN_ENST00000422127.1_Silent_p.E1915E|OBSCN_ENST00000359599.6_Silent_p.E762E|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1275 Ig-like 23. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGGGCGGCGAGGCCACCTTCC 0.627000 3 31 0 0 1 0 0 SLC38A8 146167 broad.mit.edu 37 16 84075655 84075655 + Silent SNP G G C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:84075655G>C ENST00000299709.3 - 1 107 c.108C>G c.(106-108)tcC>tcG p.S36S NM_001080442.1 NP_001073911.1 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 36 amino acid transport|sodium ion transport integral to membrane central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 CTCCCAGCGCGGACTTCATGA 0.637000 12 143 0 0 1 0 0 RAVER1 125950 broad.mit.edu 37 19 10434207 10434207 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:10434207G>A ENST00000293677.6 - 4 924 c.843C>T c.(841-843)ttC>ttT p.F281F NM_133452.2 NP_597709.2 Q8IY67 RAVR1_HUMAN ribonucleoprotein, PTB-binding 1 264 RRM 3. 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) CCAGCACCGCGAAGCCCTTCA 0.677000 14 76 0 0 1 0 0 ZNF331 55422 broad.mit.edu 37 19 54080544 54080544 + Missense_Mutation SNP G G A rs143007880 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:54080544G>A ENST00000253144.9 + 7 2063 c.730G>A c.(730-732)Gaa>Aaa p.E244K ZNF331_ENST00000449416.1_Missense_Mutation_p.E244K|ZNF331_ENST00000511593.2_Missense_Mutation_p.E244K|ZNF331_ENST00000513999.1_Missense_Mutation_p.E244K|ZNF331_ENST00000511154.1_Missense_Mutation_p.E244K|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000512387.1_Missense_Mutation_p.E244K|ZNF331_ENST00000411977.2_Missense_Mutation_p.E244K NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 244 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) GAAAGACTACGAATGCAAAGA 0.463000 T ? follicular thyroid adenoma 15 75 0 0 1 0 0 OR5B2 390190 broad.mit.edu 37 11 58190011 58190011 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:58190011G>A ENST00000302581.2 - 1 775 c.724C>T c.(724-726)Cac>Tac p.H242Y NM_001005566.2 NP_001005566.1 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, member 2 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Esophageal squamous(5;0.0027) Breast(21;0.0778) GCAGTGAAGTGAGAGGCACAG 0.448000 16 44 0 0 1 0 0 OR10A7 121364 broad.mit.edu 37 12 55614885 55614885 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:55614885C>T ENST00000326258.1 + 1 77 c.77C>T c.(76-78)tCc>tTc p.S26F NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 ATGCAAGTTTCCCTCTTTATT 0.383000 27 166 0 0 1 0 0 SNTG1 54212 broad.mit.edu 37 8 51569480 51569480 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:51569480G>A ENST00000522124.1 + 14 1522 c.861G>A c.(859-861)atG>atA p.M287I SNTG1_ENST00000517473.1_Missense_Mutation_p.M287I|SNTG1_ENST00000518864.1_Missense_Mutation_p.M287I|SNTG1_ENST00000276467.5_Missense_Mutation_p.M287I NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 287 PH. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TTGTCTACATGGGCTGGTGTG 0.423000 37 127 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155200113 155200113 + Silent SNP A A G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:155200113A>G ENST00000460012.1 - 23 3969 c.3612T>C c.(3610-3612)ttT>ttC p.F1204F PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Silent_p.F1204F|PLCH1_ENST00000340059.7_Silent_p.F1242F|PLCH1_ENST00000334686.6_Silent_p.F1204F|PLCH1_ENST00000494598.1_Intron Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1242 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TTCCCTTGCAAAAACCATGCT 0.473000 11 66 0 0 1 0 0 TAS2R9 50835 broad.mit.edu 37 12 10962106 10962106 + Missense_Mutation SNP G G A rs115762530 by1000genomes TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:10962106G>A ENST00000240691.2 - 1 661 c.569C>T c.(568-570)cCc>cTc p.P190L NM_023917.2 NP_076406.1 Q9NYW1 TA2R9_HUMAN taste receptor, type 2, member 9 190 sensory perception of taste integral to membrane taste receptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 AAGGATAAAGGGAACCATCAC 0.413000 19 67 0 0 1 0 0 SLC6A13 6540 broad.mit.edu 37 12 333660 333660 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:333660G>A ENST00000343164.4 - 10 1132 c.1080C>T c.(1078-1080)atC>atT p.I360I SLC6A13_ENST00000445055.2_Silent_p.I268I NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 360 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) GCGGGTAAGCGATGAAAGCCA 0.622000 15 57 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179465768 179465768 + Nonsense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:179465768C>T ENST00000589042.1 - 288 56087 c.55863G>A c.(55861-55863)tgG>tgA p.W18621* TTN_ENST00000342175.6_Nonsense_Mutation_p.W9748*|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W9556*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W9681*|TTN_ENST00000591111.1_Nonsense_Mutation_p.W16980*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W16053*|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16980 Fibronectin type-III 34. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGTAGGGTCCCATGCAAGGC 0.493000 7 117 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90500779 90500779 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:90500779G>A ENST00000325643.5 + 4 1443 c.1377G>A c.(1375-1377)agG>agA p.R459R NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 GGGTTTCTAGGAACCCTTCCT 0.547000 45 213 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9082490 9082490 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:9082490C>T ENST00000397910.4 - 1 9528 c.9325G>A c.(9325-9327)Gaa>Aaa p.E3109K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3110 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTCTGTGTTTCAGCTGTTGTT 0.483000 18 244 0 0 1 0 0 LEPREL1 55214 broad.mit.edu 37 3 189704627 189704627 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:189704627C>T ENST00000319332.5 - 6 1335 c.1138G>A c.(1138-1140)Gag>Aag p.E380K LEPREL1_ENST00000427335.2_Missense_Mutation_p.E199K NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 380 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TTTATCAGCTCAGACTCCAGC 0.343000 28 133 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24339764 24339764 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:24339764C>T ENST00000175238.6 + 9 898 c.815C>T c.(814-816)tCa>tTa p.S272L ADAM7_ENST00000380789.1_Missense_Mutation_p.S272L|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.S44L|RP11-624C23.1_ENST00000523578.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 272 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) TTGCGTTTTTCATTTTGGCAA 0.338000 14 75 0 0 1 0 0 PGBD2 267002 broad.mit.edu 37 1 249211370 249211370 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:249211370G>A ENST00000539153.1 + 4 833 c.578G>A c.(577-579)aGg>aAg p.R193K PGBD2_ENST00000329291.5_Missense_Mutation_p.R196K|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000355360.4_Intron Q6P3X8 PGBD2_HUMAN piggyBac transposable element derived 2 196 NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TCTTATCCAAGGAGAAGGATG 0.398000 44 197 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143013382 143013382 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:143013382C>T ENST00000343257.2 + 1 164 c.77C>T c.(76-78)cCc>cTc p.P26L NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 26 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CAGTATATGCCCTTTGAACAC 0.637000 20 181 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110825076 110825076 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr13:110825076C>T ENST00000375820.4 - 41 3668 c.3547G>A c.(3547-3549)Gga>Aga p.G1183R NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1183 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCTTTGTCTCCTTTGGCCCCT 0.478000 12 134 0 0 1 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147019247 147019247 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:147019247G>A ENST00000265272.5 - 10 1945 c.1478C>T c.(1477-1479)gCc>gTc p.A493V JAKMIP2_ENST00000507386.1_Missense_Mutation_p.A493V|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.A451V NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 493 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGTAGGAGGGCATATGCTCT 0.463000 69 281 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56202905 56202905 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr18:56202905G>A ENST00000361673.3 - 5 4727 c.4514C>T c.(4513-4515)cCa>cTa p.P1505L RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1505 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 ACATCCACTTGGAATTCTTTC 0.483000 17 54 0 0 1 0 0 CYP11A1 1583 broad.mit.edu 37 15 74630382 74630382 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr15:74630382G>A ENST00000358632.4 - 9 1718 c.1023C>T c.(1021-1023)ctC>ctT p.L341L CYP11A1_ENST00000419019.2_Silent_p.L341L|CYP11A1_ENST00000268053.6_Silent_p.L499L NM_001099773.1 NP_001093243.1 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, polypeptide 1 499 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) GCATCAGAATGAGGTTGAATG 0.532000 14 103 0 0 1 0 0 METTL24 728464 broad.mit.edu 37 6 110620208 110620208 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:110620208G>A ENST00000338882.4 - 4 702 c.703C>T c.(703-705)Ccc>Tcc p.P235S NM_001123364.1 NP_001116836.1 Q5JXM2 CF186_HUMAN methyltransferase like 24 235 extracellular region GCTGGATGGGGATCCCGCCAG 0.468000 10 64 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40944410 40944410 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr20:40944410G>A ENST00000373198.3 - 12 2327 c.2092C>T c.(2092-2094)Ctg>Ttg p.L698L PTPRT_ENST00000373190.1_Silent_p.L698L|PTPRT_ENST00000373193.3_Silent_p.L698L|PTPRT_ENST00000356100.2_Silent_p.L698L|PTPRT_ENST00000373184.1_Silent_p.L698L|PTPRT_ENST00000373201.1_Silent_p.L698L|PTPRT_ENST00000373187.1_Silent_p.L698L NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 698 Fibronectin type-III 4. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TAGCTTTTCAGGGGAGAGAGA 0.493000 19 91 0 0 1 0 0 MYOZ2 51778 broad.mit.edu 37 4 120079255 120079255 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr4:120079255C>T ENST00000307128.5 + 4 538 c.325C>T c.(325-327)Ccc>Tcc p.P109S NM_016599.4 NP_057683.1 Q9NPC6 MYOZ2_HUMAN myozenin 2 109 protein phosphatase 2B binding endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 CTTGACTCCTCCCAACACCCC 0.453000 41 152 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179718195 179718195 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:179718195C>T ENST00000420890.2 - 20 3334 c.3217G>A c.(3217-3219)Gcc>Acc p.A1073T CCDC141_ENST00000295723.5_Missense_Mutation_p.A498T NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 498 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) AGGTCAGTGGCCTCCTGAATC 0.438000 15 136 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154593138 154593138 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:154593138G>A ENST00000404039.1 + 13 1768 c.1181G>A c.(1180-1182)gGg>gAg p.G394E DPP6_ENST00000377770.3_Missense_Mutation_p.G458E|DPP6_ENST00000427557.1_Missense_Mutation_p.G351E|DPP6_ENST00000332007.3_Missense_Mutation_p.G396E NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 458 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GGAGGACGAGGGAAATTCTAT 0.537000 4 16 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9086743 9086743 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:9086743C>T ENST00000397910.4 - 1 5275 c.5072G>A c.(5071-5073)aGa>aAa p.R1691K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1691 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCTGATGCTTCTTCCTGGAGC 0.483000 18 152 0 0 1 0 0 FBXO15 201456 broad.mit.edu 37 18 71790711 71790711 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr18:71790711C>T ENST00000269500.5 - 8 1137 c.802G>A c.(802-804)Gat>Aat p.D268N FBXO15_ENST00000419743.2_Missense_Mutation_p.D344N NM_152676.2 NP_689889.1 Q8NCQ5 FBX15_HUMAN F-box protein 15 268 autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 27 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) GGGCTATCATCCAAAAAGGGG 0.443000 18 39 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103343610 103343610 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:103343610C>T ENST00000358392.2 - 67 5739 c.5422G>A c.(5422-5424)Gga>Aga p.G1808R COL11A1_ENST00000370096.3_Missense_Mutation_p.G1796R|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1757R|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1680R NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1796 collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ACTTCAAATCCGAACTTCTGA 0.348000 10 89 0 0 1 0 0 IL22RA1 58985 broad.mit.edu 37 1 24447645 24447645 + Nonsense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:24447645G>A ENST00000270800.1 - 7 1413 c.1375C>T c.(1375-1377)Caa>Taa p.Q459* NM_021258.3 NP_067081.2 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 459 integral to membrane interferon receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) TTTGCTTCTTGGGATTCCTCC 0.527000 15 80 0 0 1 0 0 MCM3 4172 broad.mit.edu 37 6 52131448 52131448 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:52131448G>A ENST00000596288.1 - 15 2281 c.2254C>T c.(2254-2256)Ccc>Tcc p.P752S MCM3_ENST00000419835.2_Missense_Mutation_p.P661S|MCM3_ENST00000229854.7_Missense_Mutation_p.P707S NM_002388.4 NP_002379.3 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 707 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Lung NSC(77;0.0931) AAGTCATAGGGGTCGTATGAA 0.468000 87 375 0 0 1 0 0 ZNF716 441234 broad.mit.edu 37 7 57529366 57529366 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:57529366G>A ENST00000420713.1 + 4 1311 c.1199G>A c.(1198-1200)aGa>aAa p.R400K NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 TACCACAAGAGAACTCATACT 0.403000 11 47 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46244586 46244586 + Nonsense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:46244586C>T ENST00000334344.6 + 15 2852 c.2680C>T c.(2680-2682)Cag>Tag p.Q894* ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q745*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q504*|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 894 Gln-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GGTAGGGTTTCAGAACATTGC 0.458000 """N, S, F""" hepatocellular carcinoma 24 67 0 0 1 0 0 FPR1 2357 broad.mit.edu 37 19 52249761 52249761 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:52249761G>A ENST00000595042.1 - 3 628 c.487C>T c.(487-489)Cgt>Tgt p.R163C FPR1_ENST00000304748.4_Missense_Mutation_p.R163C NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 163 activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) GTAGTCACACGAATGATAACT 0.537000 6 83 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75042615 75042615 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:75042615C>T ENST00000326665.5 - 13 2400 c.2182G>A c.(2182-2184)Gat>Aat p.D728N C1orf173_ENST00000433746.2_Intron NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 728 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GGCAATGAATCCTTTCCTAGT 0.388000 7 32 0 0 1 0 0 AKR1C3 8644 broad.mit.edu 37 10 5147811 5147811 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:5147811G>A ENST00000380554.3 + 8 1523 c.871G>A c.(871-873)Gag>Aag p.E291K AKR1C3_ENST00000439082.2_Missense_Mutation_p.E172K|AKR1C3_ENST00000605149.1_Missense_Mutation_p.E268K NM_001253908.1|NM_003739.5 NP_001240837.1|NP_003730.4 P42330 AK1C3_HUMAN aldo-keto reductase family 1, member C3 291 prostaglandin metabolic process cytoplasm aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1) 14 Dimethyl sulfoxide(DB01093)|NADH(DB00157) GTTGACTGCAGAGGACATGAA 0.353000 6 28 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55538171 55538171 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:55538171G>A ENST00000220676.1 + 4 1877 c.1729G>A c.(1729-1731)Gag>Aag p.E577K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 577 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CTCAATTGTGGAGGAAGATGT 0.348000 26 121 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25299373 25299373 + RNA SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr15:25299373C>T ENST00000549804.2 + 0 98 SNORD116-2_ENST00000384274.1_RNA|SNHG14_ENST00000547292.1_RNA ATGATGAGTCCCCAAAAAAAA 0.498000 29 158 0 0 1 0 0 CCDC150 284992 broad.mit.edu 37 2 197511090 197511090 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:197511090G>A ENST00000389175.4 + 2 173 c.38G>A c.(37-39)aGa>aAa p.R13K CCDC150_ENST00000272831.7_5'UTR|CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000423093.2_5'UTR NM_001080539.1 NP_001074008.1 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 13 breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 33 ACAGTGTCCAGACCGGTCCTT 0.428000 15 110 0 0 1 0 0 CTSV 1515 broad.mit.edu 37 9 99799644 99799644 + Nonsense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:99799644G>A ENST00000259470.5 - 4 535 c.286C>T c.(286-288)Cga>Tga p.R96* CTSV_ENST00000479932.1_5'UTR|CTSV_ENST00000538255.1_Nonsense_Mutation_p.R96* NM_001333.3 NP_001324.2 cathepsin V TTCTGGTTTCGAAAGCAACCC 0.423000 14 71 0 0 1 0 0 NETO1 81832 broad.mit.edu 37 18 70450983 70450983 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr18:70450983C>T ENST00000327305.6 - 7 1455 c.798G>A c.(796-798)gtG>gtA p.V266V NETO1_ENST00000299430.2_Silent_p.V265V|NETO1_ENST00000583169.1_Silent_p.V266V NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 266 CUB 2. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) ACATGCGGATCACCCCAAGAC 0.478000 51 151 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18872489 18872489 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:18872489C>T ENST00000447925.2 - 5 708 c.439G>A c.(439-441)Gaa>Aaa p.E147K PLCZ1_ENST00000541695.1_Missense_Mutation_p.E12K|PLCZ1_ENST00000266505.7_Missense_Mutation_p.E149K|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000435379.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA NM_033123.2 NP_149114.2 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 149 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) TTTCTACATTCATTTTTAAAC 0.274000 9 42 0 0 1 0 0 STXBP6 29091 broad.mit.edu 37 14 25281928 25281928 + Missense_Mutation SNP T T C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr14:25281928T>C ENST00000323944.5 - 6 1071 c.620A>G c.(619-621)aAg>aGg p.K207R STXBP6_ENST00000419632.2_Missense_Mutation_p.K207R|STXBP6_ENST00000396700.1_Missense_Mutation_p.K207R|STXBP6_ENST00000546511.1_Missense_Mutation_p.K207R|STXBP6_ENST00000548724.1_Missense_Mutation_p.K207R|STXBP6_ENST00000550887.1_Missense_Mutation_p.K207R|STXBP6_ENST00000548369.1_Missense_Mutation_p.K105R Q8NFX7 STXB6_HUMAN syntaxin binding protein 6 (amisyn) 207 v-SNARE coiled-coil homology. vesicle-mediated transport cytoplasm|integral to membrane central_nervous_system(2)|endometrium(2)|large_intestine(3) 7 GBM - Glioblastoma multiforme(265;0.0296) ACATTTGTGCTTCATGGCAAG 0.438000 12 41 0 0 1 0 0 SGK223 157285 broad.mit.edu 37 8 8235348 8235348 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:8235348C>T ENST00000520004.1 - 3 835 c.571G>A c.(571-573)Gaa>Aaa p.E191K SGK223_ENST00000330777.4_Missense_Mutation_p.E191K Q86YV5 SG223_HUMAN 191 ATP binding|non-membrane spanning protein tyrosine kinase activity GAGGGTTTTTCTTTGTGCACA 0.597000 23 121 0 0 1 0 0 AASS 10157 broad.mit.edu 37 7 121766504 121766504 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:121766504G>A ENST00000393376.1 - 3 492 c.397C>T c.(397-399)Ctt>Ttt p.L133F AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.L133F Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase 133 Lysine-ketoglutarate reductase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) TAATCAATAAGGCGAATTTCC 0.378000 48 220 0 0 1 0 0 STMN3 50861 broad.mit.edu 37 20 62275112 62275112 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr20:62275112C>T ENST00000370053.1 - 3 369 c.288G>A c.(286-288)agG>agA p.R96R STMN3_ENST00000540534.1_Silent_p.R85R NM_001276310.1|NM_015894.2 NP_001263239.1|NP_056978.2 Q9NZ72 STMN3_HUMAN stathmin-like 3 96 cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity cytoplasm protein domain specific binding kidney(1)|large_intestine(1)|lung(5)|prostate(1) 8 all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13) Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559) TCCTTGCCTTCCTCCGCTCCT 0.657000 7 49 0 0 1 0 0 HHIP 64399 broad.mit.edu 37 4 145629453 145629453 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr4:145629453G>A ENST00000296575.3 + 7 1946 c.1291G>A c.(1291-1293)Gat>Aat p.D431N NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 431 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) TGGGCTCCACGATCCAGGCAG 0.517000 17 49 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8651480 8651480 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:8651480C>T ENST00000270328.4 - 19 2631 c.2365G>A c.(2365-2367)Gaa>Aaa p.E789K ADAMTS10_ENST00000595838.1_Missense_Mutation_p.E276K|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.E789K Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 789 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 CCCAGGGCTTCGAGGCTCTGG 0.612000 OREG0025221 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 115 0 0 1 0 0 ABL1 25 broad.mit.edu 37 9 133760199 133760199 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:133760199C>T ENST00000318560.5 + 11 2903 c.2522C>T c.(2521-2523)gCc>gTc p.A841V NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 841 Pro-rich. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) AAGGGCAGTGCCTTAGGGACC 0.682000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 7 31 0 0 1 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42363357 42363357 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr15:42363357C>T ENST00000290472.3 - 17 1934 c.1840G>A c.(1840-1842)Gac>Aac p.D614N NM_178034.3 NP_828848.3 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD (cytosolic) 614 PLA2c. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity 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) CTACAGTAGTCCTGGTGCAGC 0.657000 7 42 0 0 1 0 0 TMSB15B 286527 broad.mit.edu 37 X 103219165 103219165 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:103219165G>A ENST00000567181.1 + 2 142 c.70G>A c.(70-72)Gaa>Aaa p.E24K TMSB15B_ENST00000569577.1_Missense_Mutation_p.E24K|TMSB15B_ENST00000563257.1_Missense_Mutation_p.E24K|TMSB15B_ENST00000436583.1_Missense_Mutation_p.E24K|TMSB15B_ENST00000540220.1_Missense_Mutation_p.E24K|TMSB15B_ENST00000419165.1_Missense_Mutation_p.E24K P0CG34 TB15A_HUMAN thymosin beta 15B 24 actin cytoskeleton organization|sequestering of actin monomers cytoplasm|cytoskeleton actin binding skin(1) 1 AACTAATACTGAAGAAAAAAA 0.353000 22 23 0 0 1 0 0 GSC 145258 broad.mit.edu 37 14 95234853 95234853 + Missense_Mutation SNP T T C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr14:95234853T>C ENST00000238558.3 - 3 958 c.749A>G c.(748-750)aAa>aGa p.K250R NM_173849.2 NP_776248.1 P56915 GSC_HUMAN goosecoid homeobox 250 gastrulation|middle ear morphogenesis sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 all_cancers(154;0.0896)|all_epithelial(191;0.219) COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239) CAAATCGCTTTTACCTTCCTC 0.557000 34 120 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13410148 13410148 + Nonsense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:13410148G>A ENST00000360228.5 - 19 2298 c.2299C>T c.(2299-2301)Caa>Taa p.Q767* CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.Q768* NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 768 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GCTGGCTTTTGATTCTTCTGT 0.552000 53 226 0 0 1 0 0 LINGO2 158038 broad.mit.edu 37 9 27949658 27949658 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:27949658C>T ENST00000379992.2 - 6 1461 c.1012G>A c.(1012-1014)Gag>Aag p.E338K LINGO2_ENST00000308675.3_Missense_Mutation_p.E338K NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 338 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) AAGACATTCTCTTCCAAAGTT 0.567000 16 52 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179486322 179486322 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:179486322C>T ENST00000589042.1 - 245 45453 c.45229G>A c.(45229-45231)Gaa>Aaa p.E15077K TTN_ENST00000342175.6_Missense_Mutation_p.E6204K|TTN_ENST00000460472.2_Missense_Mutation_p.E6012K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E6137K|TTN_ENST00000591111.1_Missense_Mutation_p.E13436K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12509K|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13436 Fibronectin type-III 9. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTCAGTATTTCATATCTTCCT 0.453000 9 95 0 0 1 0 0 RNF4 6047 broad.mit.edu 37 4 2513704 2513704 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr4:2513704C>T ENST00000509258.1 + 5 536 c.226C>T c.(226-228)Cgt>Tgt p.R76C RNF4_ENST00000541204.1_Intron|RNF4_ENST00000506706.1_Intron|RNF4_ENST00000511859.1_Intron|RNF4_ENST00000511600.1_Intron|RNF4_ENST00000511843.1_Intron|RNF4_ENST00000314289.8_Intron P78317 RNF4_HUMAN ring finger protein 4 0 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance cytoplasm|PML body androgen receptor binding|DNA binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|SUMO polymer binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(2)|lung(1) 5 all_epithelial(65;0.241) TGAGTGGTTTCGTTTCCTTTT 0.453000 3 13 0 0 1 0 0 OR2H1 26716 broad.mit.edu 37 6 29430419 29430419 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:29430419G>A ENST00000377136.1 + 4 1338 c.873G>A c.(871-873)agG>agA p.R291R OR2H1_ENST00000377133.1_Silent_p.R291R|OR2H1_ENST00000377132.1_Silent_p.R291R|OR2H1_ENST00000396792.2_Silent_p.R291R|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000442615.1_Silent_p.R291R Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, member 1 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(12) 17 ACACCCTGAGGAACAAGGAGA 0.483000 14 51 0 0 1 0 0 SYT6 148281 broad.mit.edu 37 1 114682476 114682476 + Missense_Mutation SNP C C A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:114682476C>A ENST00000393296.1 - 2 350 c.273G>T c.(271-273)aaG>aaT p.K91N SYT6_ENST00000369547.1_Missense_Mutation_p.K6N Q5T7P8 SYT6_HUMAN synaptotagmin VI 91 acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TGGAGGCCTCCTTGTTCCTCC 0.577000 10 101 3.07112e-06 3.10352e-06 1 1 0 GPATCH2 55105 broad.mit.edu 37 1 217688185 217688185 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:217688185G>A ENST00000366935.3 - 6 1255 c.1145C>T c.(1144-1146)tCc>tTc p.S382F NM_018040.2 NP_060510.1 Q9NW75 GPTC2_HUMAN G patch domain containing 2 382 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) AGAATCCGGGGAAAAATGAAC 0.358000 4 55 0 0 1 0 0 SMG8 55181 broad.mit.edu 37 17 57287820 57287820 + Silent SNP C C T rs145809144 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:57287820C>T ENST00000543872.2 + 2 672 c.408C>T c.(406-408)agC>agT p.S136S SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Silent_p.S136S|SMG8_ENST00000578922.1_Silent_p.S136S|CTD-2510F5.6_ENST00000577660.1_Intron Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 136 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 AGGACTACAGCCTTCTGCAGG 0.587000 9 24 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77779699 77779699 + Silent SNP T T C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr13:77779699T>C ENST00000407578.2 - 25 3890 c.3624A>G c.(3622-3624)ttA>ttG p.L1208L MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.L1170L|MYCBP2_ENST00000544440.2_Silent_p.L1170L NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 1170 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CACCCATTTTTAAGTCCTGCA 0.333000 5 42 0 0 1 0 0 SLFN12L 100506736 broad.mit.edu 37 17 33806439 33806439 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:33806439C>T ENST00000260908.7 - 2 907 c.790G>A c.(790-792)Gaa>Aaa p.E264K SLFN12L_ENST00000361112.4_Missense_Mutation_p.E293K|SLFN12L_ENST00000449046.1_Missense_Mutation_p.E295K NM_001195790.1 NP_001182719.1 Q6IEE8 SN12L_HUMAN schlafen family member 12-like 296 integral to membrane ATP binding breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1) 16 CCAATTACTTCTTTATCTTCA 0.343000 4 16 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154394380 154394380 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:154394380G>A ENST00000435029.4 + 1 1121 c.961G>A c.(961-963)Gag>Aag p.E321K NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 321 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CTCCAATCTAGAGGAAACATT 0.418000 18 231 0 0 1 0 0 BDH1 622 broad.mit.edu 37 3 197238997 197238997 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:197238997G>A ENST00000392379.1 - 8 1202 c.801C>T c.(799-801)gtC>gtT p.V267V BDH1_ENST00000392378.2_Silent_p.V267V|BDH1_ENST00000358186.2_Silent_p.V267V|BDH1_ENST00000441275.1_Silent_p.V180V NM_203314.2 NP_976059.1 Q02338 BDH_HUMAN 3-hydroxybutyrate dehydrogenase, type 1 267 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) CCTTGCGCACGACCTCAGGCA 0.572000 23 81 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24488006 24488006 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:24488006C>T ENST00000264463.4 - 12 2640 c.2133G>A c.(2131-2133)cgG>cgA p.R711R CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 711 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) TAATGAAATCCCGGACGTCCG 0.468000 HNSCC(23;0.051) 7 66 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65607709 65607709 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:65607709C>T ENST00000330909.8 - 2 367 c.368G>A c.(367-369)gGg>gAg p.G123E MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Missense_Mutation_p.G123E|MAGI1_ENST00000483466.1_Missense_Mutation_p.G123E|MAGI1_ENST00000497477.2_Missense_Mutation_p.G123E NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 123 Guanylate kinase-like. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) ATCAGGAGACCCCTTCTGGAA 0.483000 14 127 0 0 1 0 0 OR5T1 390155 broad.mit.edu 37 11 56043350 56043350 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:56043350C>T ENST00000313033.2 + 1 322 c.236C>T c.(235-237)tCa>tTa p.S79L NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) GGTGTTTTATCATTCTTGGAT 0.373000 12 41 0 0 1 0 0 RBMXL1 494115 broad.mit.edu 37 1 89449025 89449025 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:89449025G>A ENST00000399794.2 - 3 1200 c.485C>T c.(484-486)cCt>cTt p.P162L CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.P162L|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron NM_001162536.2 NP_001156008.1 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 162 nucleotide binding|RNA binding AGATCTCTTAGGAGAAGGACC 0.493000 28 122 0 0 1 0 0 SORCS2 57537 broad.mit.edu 37 4 7666117 7666117 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr4:7666117C>T ENST00000507866.2 + 7 1099 c.990C>T c.(988-990)tcC>tcT p.S330S SORCS2_ENST00000329016.9_Silent_p.S158S NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 330 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 ACAATTGCTCCGAGAAGATGC 0.587000 7 47 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3778737 3778737 + Missense_Mutation SNP C C G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:3778737C>G ENST00000262367.5 - 31 7120 c.6311G>C c.(6310-6312)cGc>cCc p.R2104P CREBBP_ENST00000382070.3_Missense_Mutation_p.R2066P NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 2104 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CTTGGCTGTGCGCTGTTTGAT 0.622000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 47 411 0 0 1 0 0 ZNF275 10838 broad.mit.edu 37 X 152612854 152612854 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:152612854C>T ENST00000421401.3 + 4 888 c.711C>T c.(709-711)ttC>ttT p.F237F ZNF275_ENST00000370251.2_Silent_p.F237F|ZNF275_ENST00000440091.1_Silent_p.F267F|ZNF275_ENST00000370249.2_Silent_p.F184F NM_001080485.3 NP_001073954.3 A6NFS0 A6NFS0_HUMAN zinc finger protein 275 237 intracellular nucleic acid binding|zinc ion binding endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AAAAGCCTTTCGCCTGCAAGG 0.577000 23 39 0 0 1 0 0 FCRLA 84824 broad.mit.edu 37 1 161681105 161681105 + Nonsense_Mutation SNP C C T rs143146867 by1000genomes TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:161681105C>T ENST00000367959.2 + 4 651 c.409C>T c.(409-411)Cga>Tga p.R137* FCRLA_ENST00000540926.1_Nonsense_Mutation_p.R120*|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000349527.4_Nonsense_Mutation_p.R114*|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367953.3_Nonsense_Mutation_p.R120*|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000236938.6_Nonsense_Mutation_p.R131*|FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000350710.3_Intron NM_001184866.1 NP_001171795.1 Q7L513 FCRLA_HUMAN Fc receptor-like A 114 Ig-like C2-type 1. cell differentiation cytoplasm|extracellular region breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1) 34 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) GACCTTCTACCGAGATGGCTC 0.592000 13 66 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19655339 19655339 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:19655339C>T ENST00000586018.1 + 8 2105 c.2003C>T c.(2002-2004)gCc>gTc p.A668V CILP2_ENST00000291495.4_Missense_Mutation_p.A662V Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 662 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 GGGCCGGTGGCCGTGCGGGTG 0.711000 5 24 0 0 1 0 0 PPP1R32 220004 broad.mit.edu 37 11 61249316 61249316 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:61249316C>T ENST00000338608.2 + 2 160 c.35C>T c.(34-36)cCt>cTt p.P12L RP11-286N22.8_ENST00000543044.1_3'UTR|PPP1R32_ENST00000432063.2_Missense_Mutation_p.P12L|RP11-286N22.8_ENST00000544880.1_Intron NM_145017.2 NP_659454.2 Q7Z5V6 CK066_HUMAN protein phosphatase 1, regulatory subunit 32 12 GTCGTCTCCCCTTATGTGAAG 0.632000 6 35 0 0 1 0 0 EFCAB5 374786 broad.mit.edu 37 17 28407116 28407116 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:28407116G>A ENST00000394835.3 + 16 3246 c.3054G>A c.(3052-3054)aaG>aaA p.K1018K EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Silent_p.K894K NM_198529.3 NP_940931.2 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 1018 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 GAAATAAAAAGATCAGTGCTC 0.433000 15 63 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98816184 98816184 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:98816184C>T ENST00000266058.4 - 13 1440 c.1195G>A c.(1195-1197)Gat>Aat p.D399N SLIT1_ENST00000371070.4_Missense_Mutation_p.D399N|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 399 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) TGGAAGGCATCGGGCCGGATG 0.592000 21 108 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561757 11561757 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:11561757C>T ENST00000294484.6 + 2 846 c.708C>T c.(706-708)atC>atT p.I236I PTCHD2_ENST00000389575.3_Silent_p.I236I NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 236 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) AGCCCAGCATCCCGCCCCACG 0.682000 4 10 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 124979357 124979357 + Missense_Mutation SNP A A C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:124979357A>C ENST00000431078.1 + 2 522 c.158A>C c.(157-159)cAc>cCc p.H53P NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 53 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) ACTGGCACTCACAGCCCAGCT 0.478000 3 25 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 97658780 97658780 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:97658780C>T ENST00000370192.3 - 20 2567 c.2467G>A c.(2467-2469)Gat>Aat p.D823N DPYD-AS1_ENST00000422980.1_RNA NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 823 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) ACAGTGAAATCCTGATTCTGA 0.428000 3 32 0 0 1 0 0 OR51S1 119692 broad.mit.edu 37 11 4869854 4869854 + Silent SNP C C T rs80199695 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:4869854C>T ENST00000322101.2 - 1 660 c.585G>A c.(583-585)ttG>ttA p.L195L MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CTGGGCAGGCCAAACGAGCCA 0.542000 25 96 0 0 1 0 0 SERGEF 26297 broad.mit.edu 37 11 18025994 18025994 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:18025994G>A ENST00000265965.5 - 4 592 c.441C>T c.(439-441)gcC>gcT p.A147A SERGEF_ENST00000532265.1_Silent_p.A33A|SERGEF_ENST00000528200.1_Silent_p.A147A|SERGEF_ENST00000532212.1_5'UTR|RP1-59M18.2_ENST00000525523.1_RNA NM_012139.2 NP_036271.1 Q9UGK8 SRGEF_HUMAN secretion regulating guanine nucleotide exchange factor 147 negative regulation of protein secretion|signal transduction cytoplasm|nucleus protein binding|Ran guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5) 12 TCACCTCAATGGCCTGGGGAA 0.443000 4 33 0 0 1 0 0 TSC22D4 81628 broad.mit.edu 37 7 100074916 100074916 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:100074916G>A ENST00000300181.2 - 2 1500 c.746C>T c.(745-747)cCa>cTa p.P249L TSC22D4_ENST00000393991.1_Missense_Mutation_p.P10L|TSC22D4_ENST00000496728.1_5'UTR NM_030935.3 NP_112197.1 Q9Y3Q8 T22D4_HUMAN TSC22 domain family, member 4 249 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CATCTCTTCTGGAGCACCCAA 0.642000 26 132 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 67 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23768735 23768735 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:23768735G>A ENST00000354639.3 + 6 745 c.281G>A c.(280-282)gGa>gAa p.G94E STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.G117E|STK31_ENST00000355870.3_Missense_Mutation_p.G117E|STK31_ENST00000428484.1_Missense_Mutation_p.G94E NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 117 Tudor. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 ATTGACTATGGAAATACTGAA 0.358000 16 59 0 0 1 0 0 TXLNB 167838 broad.mit.edu 37 6 139564297 139564297 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:139564297G>A ENST00000358430.3 - 10 1653 c.1421C>T c.(1420-1422)tCc>tTc p.S474F RP1-225E12.3_ENST00000585874.1_RNA NM_153235.3 NP_694967.3 Q8N3L3 TXLNB_HUMAN taxilin beta 474 cytoplasm breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) CTCTTCATCGGAGTTGTGCTG 0.463000 19 82 0 0 1 0 0 CYB5RL 606495 broad.mit.edu 37 1 54644969 54644969 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:54644969G>A ENST00000419823.2 - 6 821 c.597C>T c.(595-597)atC>atT p.I199I CYB5RL_ENST00000287899.8_Intron|CYB5RL_ENST00000401046.3_Silent_p.I51I|RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000542737.1_Silent_p.I199I|CYB5RL_ENST00000537208.1_Intron|CYB5RL_ENST00000534324.1_Silent_p.I199I NM_001031672.2 NP_001026842.2 Q6IPT4 NB5R5_HUMAN cytochrome b5 reductase-like 199 cytochrome-b5 reductase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1) 8 TGCTCTGCAGGATAGGCACCA 0.542000 8 16 0 0 1 0 0 DMGDH 29958 broad.mit.edu 37 5 78340189 78340189 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:78340189G>A ENST00000255189.3 - 6 960 c.932C>T c.(931-933)cCa>cTa p.P311L DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Missense_Mutation_p.P110L NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 311 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) ACTTTCATATGGACCAAACAA 0.453000 11 64 0 0 1 0 0 CHST1 8534 broad.mit.edu 37 11 45671936 45671936 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:45671936C>T ENST00000308064.2 - 4 1208 c.538G>A c.(538-540)Gac>Aac p.D180N NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 180 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) CGCACACAGTCCCCCTCCTCC 0.726000 5 59 0 0 1 0 0 LDHAL6A 160287 broad.mit.edu 37 11 18498021 18498021 + Missense_Mutation SNP A A T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:18498021A>T ENST00000280706.2 + 5 1480 c.683A>T c.(682-684)gAa>gTa p.E228V LDHAL6A_ENST00000396213.3_Missense_Mutation_p.E228V|TSG101_ENST00000536719.1_Intron NM_144972.4 NP_659409.2 Q6ZMR3 LDH6A_HUMAN lactate dehydrogenase A-like 6A 228 glycolysis cytoplasm binding|L-lactate dehydrogenase activity large_intestine(3)|lung(9)|urinary_tract(1) 13 NADH(DB00157) GAGCAGTGGGAAAATGTCCAC 0.418000 21 67 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124419271 124419271 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:124419271C>T ENST00000409039.3 + 77 13252 c.13227C>T c.(13225-13227)atC>atT p.I4409I DNAH10OS_ENST00000514254.2_5'UTR|CCDC92_ENST00000544798.1_Intron NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 4409 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) ACCTGCCGATCCTGAAGATCA 0.532000 4 46 0 0 1 0 0 OR10A7 121364 broad.mit.edu 37 12 55615429 55615429 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:55615429C>T ENST00000326258.1 + 1 621 c.621C>T c.(619-621)atC>atT p.I207I NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 TCCTGTTTATCATGTTTCCCT 0.443000 8 69 0 0 1 0 0 OR1S1 219959 broad.mit.edu 37 11 57982883 57982883 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:57982883C>T ENST00000309433.6 + 1 667 c.667C>T c.(667-669)Ccc>Tcc p.P223S NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) TATCATCTTCCCCTTTACACT 0.448000 21 69 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45127872 45127872 + RNA SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:45127872G>A ENST00000575173.1 - 0 418 ATGTTATCCGGACCTTGAAGA 0.512000 6 144 0 0 1 0 0 GABRE 2564 broad.mit.edu 37 X 151123951 151123951 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:151123951G>A ENST00000370325.1 - 8 1079 c.1026C>T c.(1024-1026)ttC>ttT p.F342F GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370328.3_Silent_p.F342F P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 342 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.F229L(1)|p.F342L(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TGGCGATATAGAAATCCAAGG 0.493000 30 42 0 0 1 0 0 PSG5 5673 broad.mit.edu 37 19 43680100 43680100 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:43680100C>T ENST00000404580.1 - 3 719 c.631G>A c.(631-633)Gaa>Aaa p.E211K PSG5_ENST00000599812.1_Missense_Mutation_p.E304K|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000366175.3_Missense_Mutation_p.E211K|PSG5_ENST00000342951.6_Missense_Mutation_p.E211K|PSG5_ENST00000407356.1_Missense_Mutation_p.E211K Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 211 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) GGTCCTGTTTCATTTCTCGTG 0.502000 32 147 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34092474 34092474 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr20:34092474C>T ENST00000397527.1 + 30 6997 c.6277C>T c.(6277-6279)Cat>Tat p.H2093Y CEP250_ENST00000342580.4_Missense_Mutation_p.H2037Y NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 2093 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) AAGGGGCCTTCATCAGAGTGT 0.527000 19 79 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76528909 76528909 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:76528909G>A ENST00000307431.8 + 15 2565 c.2180G>A c.(2179-2181)gGa>gAa p.G727E CNTNAP4_ENST00000476707.1_Missense_Mutation_p.G731E|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G655E|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G679E NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 728 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GGATTAGAGGGAAACTGCATT 0.403000 12 163 0 0 1 0 0 RPL29 6159 broad.mit.edu 37 3 52027815 52027815 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:52027815G>A ENST00000466397.1 - 4 570 c.430C>T c.(430-432)Cca>Tca p.P144S RPL29_ENST00000495383.1_Missense_Mutation_p.P144S|RPL29_ENST00000475248.1_Missense_Mutation_p.P144S|RPL29_ENST00000294189.6_Missense_Mutation_p.P144S|RPL29_ENST00000479017.1_Missense_Mutation_p.P144S P47914 RL29_HUMAN ribosomal protein L29 144 embryo implantation|endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit heparin binding|protein binding|RNA binding|structural constituent of ribosome lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GCCTGAGCTGGAACTGAAGCT 0.612000 18 70 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200960848 200960848 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:200960848C>T ENST00000332129.2 - 17 2707 c.2391G>A c.(2389-2391)caG>caA p.Q797Q KIF21B_ENST00000461742.2_Silent_p.Q797Q|KIF21B_ENST00000360529.5_Silent_p.Q797Q|KIF21B_ENST00000422435.2_Silent_p.Q797Q NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 797 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 GAGCTCGGATCTGAAACTGTG 0.617000 7 32 0 0 1 0 0 CHDC2 286464 broad.mit.edu 37 X 36156082 36156082 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:36156082C>T ENST00000378660.1 + 9 1241 c.1053C>T c.(1051-1053)atC>atT p.I351I CHDC2_ENST00000313548.4_Silent_p.I351I calponin homology domain containing 2 CAGATGTTATCCCTTCTGAGA 0.333000 15 19 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149515120 149515120 + RNA SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:149515120G>A ENST00000378016.2 + 0 11510 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ACCCGCAGCCGCCAGTGTGTG 0.697000 4 30 0 0 1 0 0 MCM10 55388 broad.mit.edu 37 10 13251260 13251260 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:13251260C>T ENST00000378714.3 + 20 2703 c.2575C>T c.(2575-2577)Ctg>Ttg p.L859L MCM10_ENST00000484800.2_Silent_p.L860L|MCM10_ENST00000378694.1_3'UTR NM_018518.4|NM_182751.2 NP_060988.3|NP_877428.1 Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 860 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 AGGAGAAACTCTGTTACCAAG 0.398000 6 69 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167489207 167489207 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:167489207C>T ENST00000519204.1 + 6 1207 c.1089C>T c.(1087-1089)tcC>tcT p.S363S TENM2_ENST00000518659.1_Silent_p.S484S|TENM2_ENST00000520394.1_Silent_p.S252S|TENM2_ENST00000545108.1_Silent_p.S484S|TENM2_ENST00000403607.2_Silent_p.S317S teneurin transmembrane protein 2 TCAACATCTCCCTCGGGAAGG 0.458000 15 91 0 0 1 0 0 NAGLU 4669 broad.mit.edu 37 17 40696249 40696249 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:40696249C>T ENST00000225927.2 + 6 2326 c.2225C>T c.(2224-2226)tCt>tTt p.S742F RP11-400F19.8_ENST00000585572.1_RNA NM_000263.3 NP_000254.2 P54802 ANAG_HUMAN N-acetylglucosaminidase, alpha 742 lysosome alpha-N-acetylglucosaminidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1) 12 all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) N-Acetyl-D-glucosamine(DB00141) GTGGCCGGCTCTTGGTGATAG 0.577000 12 40 0 0 1 0 0 SNAP91 9892 broad.mit.edu 37 6 84302218 84302218 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:84302218G>A ENST00000428679.2 - 21 2479 c.1886C>T c.(1885-1887)tCg>tTg p.S629L SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000521485.1_Missense_Mutation_p.S629L|SNAP91_ENST00000521743.1_Missense_Mutation_p.S629L|SNAP91_ENST00000439399.2_Missense_Mutation_p.S629L|SNAP91_ENST00000369694.2_Missense_Mutation_p.S629L|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000520302.1_Intron|SNAP91_ENST00000195649.6_Missense_Mutation_p.S629L O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 629 clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) CTTTGCTGGCGAGGCAGTGGT 0.453000 8 23 0 0 1 0 0 SLC22A25 387601 broad.mit.edu 37 11 62933664 62933664 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:62933664G>A ENST00000306494.6 - 7 1136 c.1137C>T c.(1135-1137)ttC>ttT p.F379F SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron NM_199352.3 NP_955384.3 Q6T423 S22AP_HUMAN solute carrier family 22, member 25 379 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 TCTGCAACAGGAAAACATTGT 0.478000 16 71 0 0 1 0 0 FCRLA 84824 broad.mit.edu 37 1 161681104 161681104 + Silent SNP C C T rs148028138 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:161681104C>T ENST00000367959.2 + 4 650 c.408C>T c.(406-408)taC>taT p.Y136Y FCRLA_ENST00000540926.1_Silent_p.Y119Y|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000349527.4_Silent_p.Y113Y|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367953.3_Silent_p.Y119Y|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000236938.6_Silent_p.Y130Y|FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000350710.3_Intron NM_001184866.1 NP_001171795.1 Q7L513 FCRLA_HUMAN Fc receptor-like A 113 Ig-like C2-type 1. cell differentiation cytoplasm|extracellular region breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1) 34 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) TGACCTTCTACCGAGATGGCT 0.592000 13 63 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41312459 41312459 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:41312459G>A ENST00000551295.2 + 4 230 c.113G>A c.(112-114)gGa>gAa p.G38E CNTN1_ENST00000547702.1_Missense_Mutation_p.G38E|CNTN1_ENST00000347616.1_Missense_Mutation_p.G38E|CNTN1_ENST00000348761.2_Missense_Mutation_p.G27E|CNTN1_ENST00000547849.1_Missense_Mutation_p.G38E|CNTN1_ENST00000360099.3_Missense_Mutation_p.G38E NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 38 axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) GAAGACAAAGGATTTGGACCA 0.358000 10 48 0 0 1 0 0 MAP1LC3B2 643246 broad.mit.edu 37 12 117013787 117013787 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:117013787G>A ENST00000306985.4 + 2 194 c.40G>A c.(40-42)Gaa>Aaa p.E14K MAP1LC3B2_ENST00000556529.1_Missense_Mutation_p.E14K NM_001085481.1 NP_001078950.1 A6NCE7 MP3B2_HUMAN microtubule-associated protein 1 light chain 3 beta 2 14 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule breast(1)|large_intestine(2)|lung(3) 6 GCGCACCTTCGAACAAAGAGT 0.587000 28 78 0 0 1 0 0 MARCH11 441061 broad.mit.edu 37 5 16067851 16067851 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:16067851C>T ENST00000332432.8 - 4 1137 c.938G>A c.(937-939)cGa>cAa p.R313Q NM_001102562.1 NP_001096032.1 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 313 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1) 20 ATTCACAGCTCGCCAGCGCTT 0.423000 7 27 0 0 1 0 0 COL17A1 1308 broad.mit.edu 37 10 105811955 105811955 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:105811955G>A ENST00000353479.5 - 24 2250 c.1960C>T c.(1960-1962)Cct>Tct p.P654S COL17A1_ENST00000369733.3_Missense_Mutation_p.P654S NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 654 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GGGCCATGAGGACCTGGTTCA 0.567000 54 177 0 0 1 0 0 SPOCD1 90853 broad.mit.edu 37 1 32280409 32280409 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:32280409C>T ENST00000360482.2 - 2 655 c.526G>A c.(526-528)Ggg>Agg p.G176R SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Missense_Mutation_p.G176R|SPOCD1_ENST00000533231.1_Missense_Mutation_p.G176R NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 176 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) CTGTCACACCCTGGAGAACTC 0.607000 28 89 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167245759 167245759 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:167245759G>A ENST00000308378.3 - 11 1702 c.1397C>T c.(1396-1398)aCt>aTt p.T466I WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.T291I NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 466 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 TCTTATCAGAGTTGGGGCCTT 0.398000 12 83 0 0 1 0 0 OR2W1 26692 broad.mit.edu 37 6 29012269 29012269 + Silent SNP C C T rs144276666 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:29012269C>T ENST00000377175.1 - 1 748 c.684G>A c.(682-684)acG>acA p.T228T NM_030903.3 NP_112165.1 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, member 1 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T228T(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 CTTTTGACTTCGTTCTCAGCA 0.393000 43 157 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240286555 240286555 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:240286555G>A ENST00000319653.9 + 2 1922 c.1692G>A c.(1690-1692)cgG>cgA p.R564R NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 564 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TTTGCTCCCGGATCATTGCCA 0.493000 17 76 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139362887 139362887 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:139362887G>A ENST00000313050.7 - 3 3855 c.3782C>T c.(3781-3783)tCc>tTc p.S1261F SEC16A_ENST00000290037.6_Missense_Mutation_p.S1083F|SEC16A_ENST00000431893.2_Missense_Mutation_p.S1083F|SEC16A_ENST00000371706.3_Missense_Mutation_p.S1083F NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 1083 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GTACTGGCTGGAGTAATAGCT 0.478000 19 75 0 0 1 0 0 CIITA 4261 broad.mit.edu 37 16 10996626 10996626 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:10996626G>A ENST00000324288.8 + 8 873 c.740G>A c.(739-741)gGa>gAa p.G247E CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.G198E NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 247 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 TCTGAGGCTGGAACAGGGGTC 0.592000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 21 80 0 0 1 0 0 ASB2 51676 broad.mit.edu 37 14 94401016 94401016 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr14:94401016C>T ENST00000555019.1 - 10 2324 c.1894G>A c.(1894-1896)Gag>Aag p.E632K ASB2_ENST00000315988.4_Missense_Mutation_p.E584K NM_001202429.1 NP_001189358.1 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box containing 2 584 intracellular signal transduction breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) TGGGTGTTCTCGTATTTCAGG 0.542000 16 69 0 0 1 0 0 CHRNB1 1140 broad.mit.edu 37 17 7358761 7358761 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:7358761C>T ENST00000306071.2 + 9 1270 c.1203C>T c.(1201-1203)ttC>ttT p.F401F CHRNB1_ENST00000576360.1_Silent_p.F280F|CHRNB1_ENST00000536404.2_Silent_p.F329F NM_000747.2 NP_000738.2 P11230 ACHB_HUMAN cholinergic receptor, nicotinic, beta 1 (muscle) 401 behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine binding|receptor activity NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3) 23 Prostate(122;0.157) ATTTTCTCTTCCCCAAACCCA 0.547000 19 99 0 0 1 0 0 ZNF300P1 134466 broad.mit.edu 37 5 150310937 150310937 + RNA SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:150310937C>T ENST00000520773.1 - 0 2384 GATGTATAATCAGCTGTGACT 0.418000 3 37 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10467461 10467461 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:10467461C>T ENST00000382483.3 - 4 4370 c.4147G>A c.(4147-4149)Gga>Aga p.G1383R NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1383 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TGCAGTCCTCCTTCTGGCCCT 0.527000 62 314 0 0 1 0 0 ZIM2 23619 broad.mit.edu 37 19 57286596 57286596 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:57286596C>T ENST00000391708.3 - 12 1586 c.1044G>A c.(1042-1044)cgG>cgA p.R348R ZIM2_ENST00000601070.1_Silent_p.R348R|ZIM2_ENST00000599935.1_Silent_p.R348R|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Silent_p.R348R|ZIM2_ENST00000221722.5_Silent_p.R348R NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 zinc finger, imprinted 2 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) CAGTATGGATCCGTTCGTGTC 0.463000 19 99 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101762998 101762998 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr13:101762998C>T ENST00000251127.6 - 20 2417 c.2336G>A c.(2335-2337)gGa>gAa p.G779E NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 779 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AAGAGATTTTCCCCTGCTGAT 0.378000 10 123 0 0 1 0 0 RP11-159L20.2 0 broad.mit.edu 37 14 31290790 31290790 + RNA SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr14:31290790C>T ENST00000554665.1 - 0 208 ACCACTATCCCTGCAAAGTAA 0.473000 12 31 0 0 1 0 0 LINC01410 103352539 broad.mit.edu 37 9 66457999 66457999 + RNA SNP C C A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:66457999C>A ENST00000424345.1 + 0 67 ATGCTGCTGCCTGGCGGTGCT 0.731000 2 2 0.004672 0.00469462 1 1 0 CR1 1378 broad.mit.edu 37 1 207741189 207741189 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:207741189C>T ENST00000367049.4 + 25 3973 c.3973C>T c.(3973-3975)Cca>Tca p.P1325S CR1_ENST00000367051.1_Missense_Mutation_p.P875S|CR1_ENST00000367052.1_Intron|CR1_ENST00000400960.2_Missense_Mutation_p.P875S|CR1_ENST00000367053.1_Missense_Mutation_p.P875S|RP11-78B10.2_ENST00000597497.1_RNA NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 875 Sushi 21. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TCCAAGTCCTCCAGTTATTCC 0.433000 21 259 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11039010 11039010 + RNA SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr21:11039010C>T ENST00000470054.1 - 0 1193 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TATGAAACATCTTTCACACAA 0.388000 12 457 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57325567 57325567 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:57325567C>T ENST00000326441.9 - 10 4606 c.4243G>A c.(4243-4245)Gct>Act p.A1415T ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A1289T|PEG3_ENST00000598410.1_Missense_Mutation_p.A1291T|PEG3_ENST00000423103.2_Missense_Mutation_p.A1415T|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1415 3 X 7 AA repeat of P-E-V-E-A-A-E.|Glu-rich. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GGCTCAGCAGCCTCCACTTCT 0.587000 16 71 0 0 1 0 0 SGSM3 27352 broad.mit.edu 37 22 40800412 40800412 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr22:40800412C>T ENST00000248929.9 + 5 508 c.319C>T c.(319-321)Ctc>Ttc p.L107F SGSM3_ENST00000454798.2_Missense_Mutation_p.L40F NM_015705.4 NP_056520.2 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 107 cell cycle arrest|Rap protein signal transduction cytoplasm Rab GTPase activator activity|Rab GTPase binding cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6) 19 CTCTGAGAAGCTCCGCTCCCT 0.637000 16 49 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26310574 26310574 + Missense_Mutation SNP C C A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:26310574C>A ENST00000265944.5 + 8 894 c.728C>A c.(727-729)cCa>cAa p.P243Q MYO3A_ENST00000376302.1_Missense_Mutation_p.P243Q|MYO3A_ENST00000543632.1_Missense_Mutation_p.P243Q NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 243 Protein kinase. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TTCAAAATACCAAGGTCAGAT 0.488000 25 95 9.39395e-14 9.55512e-14 1 1 0 CDH16 1014 broad.mit.edu 37 16 66944362 66944362 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:66944362G>A ENST00000299752.4 - 15 2161 c.1968C>T c.(1966-1968)ttC>ttT p.F656F CDH16_ENST00000570262.1_Silent_p.F576F|CDH16_ENST00000394055.3_Intron|CDH16_ENST00000565796.1_Intron|CDH16_ENST00000568632.1_Silent_p.F559F NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 656 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GGGCCTTTAGGAAGTGGATCA 0.632000 10 106 0 0 1 0 0 HSD17B4 3295 broad.mit.edu 37 5 118813129 118813129 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:118813129C>T ENST00000504811.1 + 8 626 c.442C>T c.(442-444)Cat>Tat p.H148Y HSD17B4_ENST00000256216.6_Missense_Mutation_p.H123Y|HSD17B4_ENST00000509514.1_5'UTR|HSD17B4_ENST00000515320.1_Missense_Mutation_p.H105Y|HSD17B4_ENST00000414835.2_5'UTR|HSD17B4_ENST00000513628.1_5'UTR|HSD17B4_ENST00000510025.1_Missense_Mutation_p.H99Y NM_001199291.1 NP_001186220.1 P51659 DHB4_HUMAN hydroxysteroid (17-beta) dehydrogenase 4 123 (3R)-hydroxyacyl-CoA dehydrogenase. bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2) 25 all_cancers(142;0.0206)|Prostate(80;0.0322) OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122) NADH(DB00157) CCACAGAGTTCATTTGCGGGG 0.343000 14 113 0 0 1 0 0 PRKCE 5581 broad.mit.edu 37 2 46313413 46313413 + Nonsense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:46313413C>T ENST00000306156.3 + 11 1831 c.1504C>T c.(1504-1506)Cga>Tga p.R502* NM_005400.2 NP_005391.1 Q02156 KPCE_HUMAN protein kinase C, epsilon 502 Protein kinase. activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation cytosol|endoplasmic reticulum|plasma membrane ATP binding|enzyme activator activity|metal ion binding|signal transducer activity p.R502*(2) MBOAT2/PRKCE(2) breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2) 34 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) TCAGCGCTCCCGAAAATTCGA 0.493000 7 79 0 0 1 0 0 CSRNP3 80034 broad.mit.edu 37 2 166451662 166451662 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:166451662C>T ENST00000314499.7 + 4 463 c.87C>T c.(85-87)tcC>tcT p.S29S CSRNP3_ENST00000342316.4_Silent_p.S29S|CSRNP3_ENST00000409420.1_Silent_p.S61S NM_001172173.1 NP_001165644.1 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 29 Ser-rich. apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2) 33 ATGAAGTTTCCAGCAGTGAAA 0.463000 22 108 0 0 1 0 0 MTF1 4520 broad.mit.edu 37 1 38287858 38287858 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:38287858C>T ENST00000373036.4 - 9 1842 c.1702G>A c.(1702-1704)Gga>Aga p.G568R NM_005955.2 NP_005946.2 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 568 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1) 31 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TTCTGTTCTCCCATGACTAGG 0.448000 19 69 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152187656 152187656 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:152187656C>T ENST00000368801.2 - 3 6524 c.6449G>A c.(6448-6450)gGa>gAa p.G2150E FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2150 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGAGCTAGATCCGTGTCGTTC 0.582000 54 3623 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26164228 26164228 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr22:26164228C>T ENST00000335473.7 + 4 595 c.345C>T c.(343-345)ccC>ccT p.P115P MYO18B_ENST00000536101.1_Silent_p.P115P|MYO18B_ENST00000407587.2_Silent_p.P115P NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 115 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CCCGCAGCCCCGACCCTGAGC 0.597000 5 32 0 0 1 0 0 LRIF1 55791 broad.mit.edu 37 1 111490906 111490906 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:111490906C>T ENST00000369763.4 - 4 2375 c.1985G>A c.(1984-1986)gGt>gAt p.G662D LRIF1_ENST00000485275.2_Missense_Mutation_p.G126D|LRIF1_ENST00000494675.1_Missense_Mutation_p.G126D|RP11-96K19.2_ENST00000440689.1_RNA NM_018372.3 NP_060842.3 Q5T3J3 LRIF1_HUMAN ligand dependent nuclear receptor interacting factor 1 662 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 GAGTTGGGAACCGGTGACATT 0.368000 22 114 0 0 1 0 0 CYTIP 9595 broad.mit.edu 37 2 158290911 158290911 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:158290911C>T ENST00000264192.3 - 3 371 c.250G>A c.(250-252)Gat>Aat p.D84N CYTIP_ENST00000497432.1_5'UTR|CYTIP_ENST00000540637.1_5'UTR NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 84 PDZ. regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 GTTTCATTATCCTGCTTCTCC 0.333000 6 66 0 0 1 0 0 CSAD 51380 broad.mit.edu 37 12 53567519 53567519 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:53567519C>T ENST00000267085.4 - 3 301 c.68G>A c.(67-69)aGc>aAc p.S23N CSAD_ENST00000379843.3_5'UTR|CSAD_ENST00000379846.1_Intron|CSAD_ENST00000453446.2_Intron|CSAD_ENST00000444623.1_5'UTR|CSAD_ENST00000542115.1_5'UTR NM_001244706.1|NM_015989.4 NP_001231635.1|NP_057073.4 Q9Y600 CSAD_HUMAN cysteine sulfinic acid decarboxylase 225 carboxylic acid metabolic process pyridoxal phosphate binding|sulfinoalanine decarboxylase activity kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4) 14 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) TACCTCTCTGCTCAGGAGAGC 0.522000 9 35 0 0 1 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155932417 155932417 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:155932417G>A ENST00000368316.1 - 13 1454 c.984C>T c.(982-984)taC>taT p.Y328Y ARHGEF2_ENST00000368315.3_Silent_p.Y357Y|ARHGEF2_ENST00000361247.4_Silent_p.Y356Y|ARHGEF2_ENST00000313695.7_Silent_p.Y328Y|ARHGEF2_ENST00000313667.4_Silent_p.Y355Y Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 356 DH. actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) TGTCTCGGGCGTACAGCTCCT 0.557000 4 108 0 0 1 0 0 FUBP1 8880 broad.mit.edu 37 1 78430375 78430375 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:78430375G>A ENST00000370767.1 - 10 880 c.793C>T c.(793-795)Cgg>Tgg p.R265W FUBP1_ENST00000370768.2_Missense_Mutation_p.R265W|FUBP1_ENST00000436586.2_Missense_Mutation_p.R286W Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 265 transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 TACTCATTCCGAACTTCTCTG 0.348000 """F, N""" oligodendroglioma 17 208 0 0 1 0 0 BRINP1 1620 broad.mit.edu 37 9 121976231 121976231 + Silent SNP A A G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:121976231A>G ENST00000265922.3 - 6 1349 c.888T>C c.(886-888)tcT>tcC p.S296S DBC1_ENST00000373964.2_Silent_p.S296S NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 296 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CTTCGGCCCAAGACTTGGCCA 0.547000 28 68 0 0 1 0 0 DDHD2 23259 broad.mit.edu 37 8 38117619 38117619 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:38117619C>T ENST00000397166.2 + 17 2641 c.2116C>T c.(2116-2118)Ctt>Ttt p.L706F DDHD2_ENST00000529845.1_Missense_Mutation_p.L157F|DDHD2_ENST00000520272.2_Missense_Mutation_p.L706F|DDHD2_ENST00000517385.1_Missense_Mutation_p.L325F NM_015214.2 NP_056029.2 O94830 DDHD2_HUMAN DDHD domain containing 2 706 lipid catabolic process centrosome hydrolase activity|metal ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2) 28 Colorectal(12;0.000442) all_lung(54;0.0657)|Lung NSC(58;0.175) BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977) GGGTATCTTCCTTGATCAGCC 0.328000 21 96 0 0 1 0 0 TEX101 83639 broad.mit.edu 37 19 43920370 43920370 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:43920370G>A ENST00000602198.1 + 5 680 c.238G>A c.(238-240)Gaa>Aaa p.E80K TEX101_ENST00000253435.7_Missense_Mutation_p.E80K|TEX101_ENST00000598265.1_Missense_Mutation_p.E62K|TEX101_ENST00000601707.1_3'UTR NM_031451.4 NP_113639.4 Q9BY14 TX101_HUMAN testis expressed 101 62 anchored to membrane|plasma membrane large_intestine(1)|lung(12)|ovary(1)|skin(1) 15 Prostate(69;0.0199) ACTTTGCCAGGAAACCATACT 0.473000 16 48 0 0 1 0 0 TIE1 7075 broad.mit.edu 37 1 43783279 43783279 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:43783279G>A ENST00000372476.3 + 16 2744 c.2665G>A c.(2665-2667)Gaa>Aaa p.E889K TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.E534K NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 889 Protein kinase. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GGGAGAACTGGAAGTTCTGTG 0.498000 39 206 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50959958 50959958 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:50959958G>A ENST00000374103.4 - 6 749 c.664C>T c.(664-666)Cgg>Tgg p.R222W OGDHL_ENST00000419399.1_Missense_Mutation_p.R165W|OGDHL_ENST00000432695.1_Missense_Mutation_p.R13W NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 222 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 AACTTCTGCCGGATCCACTGG 0.592000 58 214 0 0 1 0 0 XPO6 23214 broad.mit.edu 37 16 28188617 28188617 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:28188617G>A ENST00000304658.5 - 3 631 c.131C>T c.(130-132)gCc>gTc p.A44V XPO6_ENST00000565698.1_Missense_Mutation_p.A30V NM_015171.2 NP_055986.1 Q96QU8 XPO6_HUMAN exportin 6 44 Importin N-terminal. protein export from nucleus protein binding|protein transporter activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 GAATCTCCAGGCTCCTATTTG 0.368000 5 50 0 0 1 0 0 OR1L8 138881 broad.mit.edu 37 9 125330723 125330723 + Missense_Mutation SNP C C T rs143007621 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:125330723C>T ENST00000304865.2 - 1 115 c.34G>A c.(34-36)Gag>Aag p.E12K NM_001004454.1 NP_001004454.1 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, member 8 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 AGGATAAACTCGGAGACACTG 0.458000 16 46 0 0 1 0 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651391 1651391 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:1651391G>A ENST00000399676.2 + 1 359 c.321G>A c.(319-321)ggG>ggA p.G107G NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 107 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) TGTCCAAGGGGGCCTGTGGCT 0.687000 13 176 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142561798 142561798 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:142561798C>T ENST00000392957.2 + 7 1027 c.240C>T c.(238-240)gcC>gcT p.A80A EPHB6_ENST00000442129.1_Silent_p.A80A|EPHB6_ENST00000411471.2_Intron NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 80 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) TGGCAGGGGCCCCTCCAGGCA 0.627000 58 294 0 0 1 0 0 ABCG1 9619 broad.mit.edu 37 21 43702471 43702471 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr21:43702471G>A ENST00000398437.1 + 7 1262 c.1114G>A c.(1114-1116)Gcc>Acc p.A372T ABCG1_ENST00000340588.4_Missense_Mutation_p.A334T|ABCG1_ENST00000361802.2_Missense_Mutation_p.A226T|ABCG1_ENST00000343687.3_Missense_Mutation_p.A237T|ABCG1_ENST00000398457.2_Missense_Mutation_p.A228T|ABCG1_ENST00000347800.2_Missense_Mutation_p.A223T|ABCG1_ENST00000398449.3_Missense_Mutation_p.A226T|ABCG1_ENST00000462050.1_3'UTR P45844 ABCG1_HUMAN ATP-binding cassette, sub-family G (WHITE), member 1 226 amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) CAAGCGCCTGGCCATCGCGCT 0.617000 8 57 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124419272 124419272 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:124419272C>T ENST00000409039.3 + 77 13253 c.13228C>T c.(13228-13230)Ctg>Ttg p.L4410L DNAH10OS_ENST00000514254.2_5'UTR|CCDC92_ENST00000544798.1_Intron NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 4410 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CCTGCCGATCCTGAAGATCAT 0.527000 4 46 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8615459 8615459 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:8615459C>T ENST00000338257.8 - 9 1158 c.891G>A c.(889-891)gtG>gtA p.V297V NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 297 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 CCACACTCTCCACTCGGGCGT 0.617000 15 94 0 0 1 0 0 ZNF786 136051 broad.mit.edu 37 7 148767728 148767728 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:148767728G>A ENST00000316286.9 - 3 2150 c.1878C>T c.(1876-1878)aaC>aaT p.N626N ZNF786_ENST00000491431.1_Silent_p.N712N|ZNF786_ENST00000451334.3_Silent_p.N675N Q8N393 ZN786_HUMAN zinc finger protein 786 712 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TTTCCCGGAAGTTCTTGTCAC 0.582000 35 164 0 0 1 0 0 ZNF296 162979 broad.mit.edu 37 19 45575004 45575004 + Missense_Mutation SNP T T C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:45575004T>C ENST00000303809.2 - 3 1497 c.1283A>G c.(1282-1284)aAg>aGg p.K428R NM_145288.1 NP_660331.1 Q8WUU4 ZN296_HUMAN zinc finger protein 296 428 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|lung(3)|prostate(1)|urinary_tract(2) 7 GCGGTTGAGCTTACTGCTCTG 0.662000 24 77 0 0 1 0 0 PAF1 54623 broad.mit.edu 37 19 39879936 39879936 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:39879936C>T ENST00000221265.3 - 6 777 c.447G>A c.(445-447)gaG>gaA p.E149E PAF1_ENST00000221266.7_Silent_p.E139E|PAF1_ENST00000595564.1_Silent_p.E139E NM_019088.3 NP_061961.2 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) 149 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2) 17 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CCTCAGGCTTCTCATTGGAGA 0.498000 17 68 0 0 1 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140755265 140755265 + Missense_Mutation SNP G G T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:140755265G>T ENST00000517434.1 + 1 1615 c.1615G>T c.(1615-1617)Gac>Tac p.D539Y PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGACAGCGGGGACCCGCCTCT 0.597000 21 177 4.54149e-19 4.63835e-19 1 1 0 IL22RA1 58985 broad.mit.edu 37 1 24463788 24463788 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:24463788C>T ENST00000270800.1 - 3 226 c.188G>A c.(187-189)aGg>aAg p.R63K NM_021258.3 NP_067081.2 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 63 Fibronectin type-III 1. integral to membrane interferon receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) CACCCAGTCCCTCTCTCCGTA 0.577000 12 111 0 0 1 0 0 THNSL2 55258 broad.mit.edu 37 2 88478395 88478395 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:88478395C>T ENST00000324166.5 + 4 2356 c.665C>T c.(664-666)tCg>tTg p.S222L THNSL2_ENST00000358591.2_Missense_Mutation_p.S222L|THNSL2_ENST00000377254.3_Missense_Mutation_p.S222L|THNSL2_ENST00000343544.4_Missense_Mutation_p.S222L|THNSL2_ENST00000449349.1_Missense_Mutation_p.S190L|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000402102.1_Missense_Mutation_p.S222L NM_018271.4 NP_060741.3 Q86YJ6 THNS2_HUMAN threonine synthase-like 2 (S. cerevisiae) 222 threonine biosynthetic process threonine synthase activity breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 27 AGCCTGAATTCGATCAACTGG 0.537000 31 270 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10469266 10469266 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:10469266G>A ENST00000382483.3 - 4 2565 c.2342C>T c.(2341-2343)tCc>tTc p.S781F NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 781 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GCAGGAGTCGGATGTGTGGGG 0.662000 32 129 0 0 1 0 0 FCER1A 2205 broad.mit.edu 37 1 159273834 159273834 + Missense_Mutation SNP T T A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:159273834T>A ENST00000368115.1 + 4 292 c.193T>A c.(193-195)Ttc>Atc p.F65I FCER1A_ENST00000368114.1_Missense_Mutation_p.F32I NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 65 Ig-like 1. integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) CACCAAATGGTTCCACAATGG 0.383000 22 99 0 0 1 0 0 UBBP4 23666 broad.mit.edu 37 17 21731576 21731576 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:21731576G>A ENST00000578713.1 + 2 655 c.651G>A c.(649-651)tcG>tcA p.S217S UBBP4_ENST00000584755.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 AGAAAGAGTCGACCCTGCACC 0.527000 6 42 0 0 1 0 0 USH1C 10083 broad.mit.edu 37 11 17547970 17547970 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:17547970C>T ENST00000005226.7 - 8 597 c.598G>A c.(598-600)Ggc>Agc p.G200S USH1C_ENST00000527020.1_Missense_Mutation_p.G200S|USH1C_ENST00000527720.1_Missense_Mutation_p.G169S|USH1C_ENST00000318024.4_Missense_Mutation_p.G200S NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 200 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 CCAGGGGAGCCCAGGCTGCCT 0.607000 5 37 0 0 1 0 0 PADI2 11240 broad.mit.edu 37 1 17402195 17402195 + Silent SNP A A G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:17402195A>G ENST00000375486.4 - 12 1497 c.1434T>C c.(1432-1434)ttT>ttC p.F478F PADI2_ENST00000444885.2_Silent_p.F362F|PADI2_ENST00000466151.1_5'UTR NM_007365.2 NP_031391.2 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 478 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) GGATGGGGACAAAGGACATGA 0.597000 OREG0013145 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 145 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82544610 82544610 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:82544610G>A ENST00000423517.2 - 7 13029 c.12692C>T c.(12691-12693)tCc>tTc p.S4231F PCLO_ENST00000333891.8_Missense_Mutation_p.S4231F|PCLO_ENST00000437081.1_Missense_Mutation_p.S951F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4162 Ser-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.S4231F(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGCCCTGGAGGAAATGCCACC 0.388000 10 39 0 0 1 0 0 BAHCC1 57597 broad.mit.edu 37 17 79428193 79428193 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:79428193C>T ENST00000307745.7 + 30 6504 c.6504C>T c.(6502-6504)ttC>ttT p.F2168F RP11-1055B8.8_ENST00000572590.1_RNA ACGCGCCCTTCGTCGGGGGGA 0.721000 4 9 0 0 1 0 0 DHRS2 10202 broad.mit.edu 37 14 24109067 24109067 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr14:24109067G>A ENST00000250383.6 + 4 859 c.383G>A c.(382-384)gGg>gAg p.G128E DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Missense_Mutation_p.G128E NM_005794.3 NP_005785.1 Q13268 DHRS2_HUMAN dehydrogenase/reductase (SDR family) member 2 106 C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin mitochondrion|nuclear envelope binding|carbonyl reductase (NADPH) activity endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00659) CCTCTGGTAGGGAGCACTCTG 0.657000 11 48 0 0 1 0 0 SUGP1 57794 broad.mit.edu 37 19 19389562 19389562 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:19389562G>A ENST00000247001.5 - 11 1919 c.1572C>T c.(1570-1572)ttC>ttT p.F524F NM_172231.3 NP_757386.2 Q8IWZ8 SUGP1_HUMAN SURP and G patch domain containing 1 524 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 22 AGTCTCCGATGAAGTGCTTGC 0.592000 3 40 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123249258 123249258 + Splice_Site SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr4:123249258G>A ENST00000264501.4 + 66 11368 c.e66-1 KIAA1109_ENST00000388738.3_Splice_Site Q2LD37 K1109_HUMAN KIAA1109 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TTTACAATCAGTTTCCAGAGG 0.289000 8 24 0 0 1 0 0 AMIGO1 57463 broad.mit.edu 37 1 110050909 110050909 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:110050909G>A ENST00000369864.4 - 2 975 c.626C>T c.(625-627)cCg>cTg p.P209L AMIGO1_ENST00000369862.1_Missense_Mutation_p.P209L Q86WK6 AMGO1_HUMAN adhesion molecule with Ig-like domain 1 209 axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis axon|integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) GATCCAGGCCGGCAGCTTCTG 0.527000 9 109 0 0 1 0 0 LILRB2 10288 broad.mit.edu 37 19 54782167 54782167 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:54782167G>A ENST00000391748.1 - 7 1332 c.1205C>T c.(1204-1206)tCc>tTc p.S402F LILRB2_ENST00000434421.1_Missense_Mutation_p.S286F|LILRB2_ENST00000314446.5_Missense_Mutation_p.S402F|LILRB2_ENST00000391746.1_Missense_Mutation_p.S402F|LILRB2_ENST00000391749.4_Missense_Mutation_p.S402F NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 402 Ig-like C2-type 4. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GTAGGGGTCGGAGTTGAGTGA 0.587000 24 135 0 0 1 0 0 CALN1 83698 broad.mit.edu 37 7 71275406 71275406 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:71275406C>T ENST00000395275.2 - 6 961 c.573G>A c.(571-573)acG>acA p.T191T CALN1_ENST00000431984.1_Silent_p.T149T|CALN1_ENST00000395276.2_Silent_p.T149T|CALN1_ENST00000412588.1_Silent_p.T191T|CALN1_ENST00000405452.2_Silent_p.T149T|CALN1_ENST00000329008.5_Silent_p.T149T NM_031468.3 NP_113656.2 Q9BXU9 CABP8_HUMAN calneuron 1 149 Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding p.T149T(1) biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2) 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) TGTCCTTCATCGTTAGGTGGT 0.463000 24 113 0 0 1 0 0 ARMC12 221481 broad.mit.edu 37 6 35705867 35705867 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:35705867C>T ENST00000373866.3 + 2 249 c.227C>T c.(226-228)tCt>tTt p.S76F ARMC12_ENST00000373869.3_Missense_Mutation_p.S76F|ARMC12_ENST00000288065.2_Missense_Mutation_p.S103F Q5T9G4 CF081_HUMAN armadillo repeat containing 12 76 binding CTCCTCAACTCTTTGGAGTGC 0.592000 OREG0017379 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 158 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179439664 179439664 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:179439664C>T ENST00000589042.1 - 326 71419 c.71195G>A c.(71194-71196)gGa>gAa p.G23732E TTN_ENST00000342175.6_Missense_Mutation_p.G14859E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G14667E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14792E|TTN_ENST00000591111.1_Missense_Mutation_p.G22091E|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G21164E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22091 Fibronectin type-III 72. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTGATTGGTCCAGTAGGTGG 0.443000 4 16 0 0 1 0 0 CALCR 799 broad.mit.edu 37 7 93116311 93116311 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:93116311C>T ENST00000359558.2 - 4 336 c.37G>A c.(37-39)Gat>Aat p.D13N CALCR_ENST00000421592.1_5'UTR|CALCR_ENST00000426151.1_5'UTR|CALCR_ENST00000360249.4_5'UTR|CALCR_ENST00000394441.1_5'UTR NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 0 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) TTTTGAAGATCTCTTTGTCCT 0.289000 13 52 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21150439 21150439 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr22:21150439G>A ENST00000255882.6 - 18 2358 c.2272C>T c.(2272-2274)Cta>Tta p.L758L PI4KA_ENST00000572273.1_Silent_p.L700L NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 700 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CCTACCTTTAGGGCAGGGCCC 0.577000 6 40 0 0 1 0 0 PABPC4 8761 broad.mit.edu 37 1 40034557 40034557 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:40034557G>A ENST00000372857.3 - 6 1585 c.793C>T c.(793-795)Cgt>Tgt p.R265C PABPC4_ENST00000372858.3_Missense_Mutation_p.R265C|PABPC4_ENST00000529216.1_5'UTR|PABPC4_ENST00000372862.3_Missense_Mutation_p.R265C|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372856.3_Missense_Mutation_p.R265C NM_003819.3 NP_003810.1 Q13310 PABP4_HUMAN poly(A) binding protein, cytoplasmic 4 (inducible form) 265 RRM 3. blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3) 21 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TTTTGTGCACGGCCTACAAAT 0.398000 15 151 0 0 1 0 0 FAM41C 284593 broad.mit.edu 37 1 809624 809624 + RNA SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:809624G>A ENST00000446136.1 - 0 1069 NR_027055.1 AATTCACCGAGGCCGAGAGCA 0.537000 12 133 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141027857 141027857 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:141027857C>T ENST00000389484.3 - 86 14172 c.13201G>A c.(13201-13203)Ggt>Agt p.G4401S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4401 EGF-like 14. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CATGTGCCACCATTGTAACAG 0.403000 TSP Lung(27;0.18) 12 100 0 0 1 0 0 FOXI1 2299 broad.mit.edu 37 5 169535371 169535371 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:169535371C>T ENST00000449804.2 + 2 653 c.608C>T c.(607-609)cCc>cTc p.P203L FOXI1_ENST00000306268.6_Missense_Mutation_p.P298L NM_012188.4|NM_144769.2 NP_036320.2|NP_658982.1 Q12951 FOXI1_HUMAN forkhead box I1 298 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACGAGCCACCCCTTGGTCACA 0.622000 Pendred syndrome 11 71 0 0 1 0 0 NR4A2 4929 broad.mit.edu 37 2 157186669 157186669 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:157186669G>A ENST00000339562.4 - 3 392 c.30C>T c.(28-30)tcC>tcT p.S10S NR4A2_ENST00000409108.2_Silent_p.S10S|NR4A2_ENST00000426264.1_Intron|NR4A2_ENST00000429376.1_Intron|NR4A2_ENST00000409572.1_Silent_p.S10S|NR4A2_ENST00000539077.1_Silent_p.S21S NM_006186.3 NP_006177.1 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 10 cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 40 CTTGAGGCGAGGACCCATACT 0.522000 8 31 0 0 1 0 0 LOC440040 440040 broad.mit.edu 37 11 49598322 49598322 + RNA SNP C C A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:49598322C>A ENST00000527477.1 + 0 926 ACTCAGCAACCATCATGGATC 0.473000 4 69 1.23904e-05 1.25008e-05 1 1 0 GRM8 2918 broad.mit.edu 37 7 126173042 126173042 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:126173042G>A ENST00000339582.2 - 9 3202 c.2394C>T c.(2392-2394)atC>atT p.I798I GRM8_ENST00000358373.3_Silent_p.I798I|GRM8_ENST00000444921.2_Silent_p.I798I O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 798 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) AAAAGATGGGGATGAAAGCTA 0.388000 HNSCC(24;0.065) 13 50 0 0 1 0 0 WASL 8976 broad.mit.edu 37 7 123346376 123346376 + Nonsense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:123346376G>A ENST00000223023.4 - 4 723 c.391C>T c.(391-393)Cga>Tga p.R131* NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 131 WH1. actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity p.R131*(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ACTGCTTTTCGAAATTTTTTT 0.363000 8 34 0 0 1 0 0 SLC2A4RG 56731 broad.mit.edu 37 20 62373358 62373358 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr20:62373358C>T ENST00000266077.2 + 4 580 c.528C>T c.(526-528)ccC>ccT p.P176P SLC2A4RG_ENST00000493772.1_Intron NM_020062.3 NP_064446.2 Q9NR83 S2A4R_HUMAN SLC2A4 regulator 176 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1) 7 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) CCCCACTGCCCCCCGAGGCAG 0.687000 15 54 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 75986677 75986677 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:75986677G>A ENST00000487694.3 + 2 312 c.33G>A c.(31-33)agG>agA p.R11R NM_001128929.2 NP_001122401.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 0 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TCACTAGAAGGATGTGGACAT 0.443000 3 30 0 0 1 0 0 RNF103 7844 broad.mit.edu 37 2 86839324 86839324 + Missense_Mutation SNP A A G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:86839324A>G ENST00000237455.4 - 3 1408 c.440T>C c.(439-441)tTt>tCt p.F147S RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000597638.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA NM_001198951.1|NM_005667.3 NP_001185880.1|NP_005658.1 O00237 RN103_HUMAN ring finger protein 103 147 central nervous system development|ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2) 25 ACGTATTCCAAATCTTGACAC 0.373000 6 99 0 0 1 0 0 H2BFWT 158983 broad.mit.edu 37 X 103267863 103267863 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:103267863G>A ENST00000217926.5 - 1 396 c.370C>T c.(370-372)Ctg>Ttg p.L124L NM_001002916.3 NP_001002916.2 Q7Z2G1 H2BWT_HUMAN H2B histone family, member W, testis-specific 124 nucleosome assembly nuclear membrane|nucleosome DNA binding breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 16 GAGCGGGCCAGGCGACCAGCC 0.652000 10 30 0 0 1 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156906763 156906763 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:156906763G>A ENST00000368194.3 - 40 5514 c.4475C>T c.(4474-4476)tCc>tTc p.S1492F ARHGEF11_ENST00000361409.2_Missense_Mutation_p.S1452F|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.S868F NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 1452 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TCCCCCAAGGGACTTGAGCAG 0.597000 38 231 0 0 1 0 0 IDO2 169355 broad.mit.edu 37 8 39871144 39871144 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:39871144C>T ENST00000502986.2 + 10 1061 c.819C>T c.(817-819)ccC>ccT p.P273P IDO2_ENST00000389060.4_Silent_p.P260P|IDO2_ENST00000343295.4_3'UTR NM_194294.2 NP_919270.2 Q6ZQW0 I23O2_HUMAN indoleamine 2,3-dioxygenase 2 260 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 18 CCCAAGAGCCCCTGAAATACT 0.498000 17 92 0 0 1 0 0 RABGGTB 5876 broad.mit.edu 37 1 76255701 76255701 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:76255701G>A ENST00000319942.3 + 4 445 c.374G>A c.(373-375)gGt>gAt p.G125D RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_5'UTR|RABGGTB_ENST00000370826.3_Missense_Mutation_p.G125D NM_004582.2 NP_004573.2 P53611 PGTB2_HUMAN Rab geranylgeranyltransferase, beta subunit 125 protein modification process|visual perception metal ion binding|protein binding|Rab geranylgeranyltransferase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1) 19 TATGTTAAAGGTCTACAGAAA 0.323000 12 143 0 0 1 0 0 ZFP57 346171 broad.mit.edu 37 6 29640457 29640457 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:29640457C>T ENST00000376883.1 - 6 1782 c.1371G>A c.(1369-1371)gtG>gtA p.V457V ZFP57_ENST00000488757.1_Silent_p.V477V|ZFP57_ENST00000376881.3_Silent_p.V457V Q9NU63 ZFP57_HUMAN ZFP57 zinc finger protein 393 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 GGCCCAGGATCACCCGGCATT 0.562000 20 73 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152188238 152188238 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:152188238G>A ENST00000368801.2 - 3 5942 c.5867C>T c.(5866-5868)tCt>tTt p.S1956F FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1956 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCAGAACCAGACCCATGTCG 0.617000 29 1509 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26463420 26463420 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:26463420G>A ENST00000265944.5 + 30 4393 c.4227G>A c.(4225-4227)aaG>aaA p.K1409K MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1409 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TCAAGAAGAAGGATAACAAAG 0.318000 16 91 0 0 1 0 0 ZNF418 147686 broad.mit.edu 37 19 58438711 58438711 + Missense_Mutation SNP G G T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:58438711G>T ENST00000396147.1 - 4 1129 c.838C>A c.(838-840)Cac>Aac p.H280N ZNF418_ENST00000595830.1_Missense_Mutation_p.H280N|ZNF418_ENST00000599852.1_Missense_Mutation_p.H195N|ZNF418_ENST00000425570.3_Missense_Mutation_p.H301N|ZNF418_ENST00000600989.1_Intron NM_133460.1 NP_597717.1 Q8TF45 ZN418_HUMAN zinc finger protein 418 280 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) TTCCCAGTGTGAACTCGCTGA 0.433000 19 186 2.39187e-15 2.43689e-15 1 1 0 TTN 7273 broad.mit.edu 37 2 179583665 179583665 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:179583665C>T ENST00000589042.1 - 84 24486 c.24262G>A c.(24262-24264)Gaa>Aaa p.E8088K TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E7771K|TTN_ENST00000342992.6_Missense_Mutation_p.E6844K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7771 Ig-like 63. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGCAAAACTTCCACAGAATCA 0.473000 3 17 0 0 1 0 0 KCNJ6 3763 broad.mit.edu 37 21 39086747 39086747 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr21:39086747C>T ENST00000400482.3 - 3 1302 c.713G>A c.(712-714)aGa>aAa p.R238K KCNJ6_ENST00000288309.6_Missense_Mutation_p.R238K NM_002240.3 NP_002231.1 P48051 IRK6_HUMAN potassium inwardly-rectifying channel, subfamily J, member 6 238 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) CAACTTGGCTCTGATGGAAGC 0.527000 10 83 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37618601 37618601 + Nonsense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:37618601C>T ENST00000447079.4 + 1 310 c.277C>T c.(277-279)Cga>Tga p.R93* CDK12_ENST00000430627.2_Nonsense_Mutation_p.R93* NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 93 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 CAAACTAGACCGAAGGGAGAA 0.522000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 8 51 0 0 1 0 0 C6orf118 168090 broad.mit.edu 37 6 165693599 165693599 + Splice_Site SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:165693599C>T ENST00000230301.8 - 9 1377 c.1356_splice c.e9-1 p.G453_splice C6orf118_ENST00000491176.1_5'UTR NM_144980.3 NP_659417.2 Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 453 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) TCCAAAGGCCCCTTAAAATAC 0.308000 7 23 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22154824 22154824 + Silent SNP T T C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:22154824T>C ENST00000397126.4 - 4 3160 c.3012A>G c.(3010-3012)gaA>gaG p.E1004E ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TGCCACATTCTTCACATTTGT 0.368000 3 72 0 0 1 0 0 ZNF354A 6940 broad.mit.edu 37 5 178140378 178140378 + Missense_Mutation SNP G G C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:178140378G>C ENST00000335815.2 - 5 698 c.501C>G c.(499-501)aaC>aaG p.N167K NM_005649.2 NP_005640.2 O60765 Z354A_HUMAN zinc finger protein 354A 167 regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2) 19 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.185) TTGGGCTGAAGTTTTGGCTCA 0.378000 12 203 0 0 1 0 0 CCDC116 164592 broad.mit.edu 37 22 21988812 21988812 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr22:21988812C>T ENST00000292779.3 + 3 735 c.574C>T c.(574-576)Ctg>Ttg p.L192L NM_152612.2 NP_689825.2 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 192 endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5) 22 Colorectal(54;0.105) GGACAAACTCCTGCTGGAGAA 0.637000 13 47 0 0 1 0 0 RASSF2 9770 broad.mit.edu 37 20 4778692 4778692 + Silent SNP G G A rs34143688 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr20:4778692G>A ENST00000379400.3 - 4 294 c.99C>T c.(97-99)taC>taT p.Y33Y RASSF2_ENST00000379376.2_Silent_p.Y33Y NM_014737.2 NP_055552.1 P50749 RASF2_HUMAN Ras association (RalGDS/AF-6) domain family member 2 33 cell cycle|signal transduction nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 GGCCTTCATAGTACAAGTTGT 0.478000 9 41 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18893611 18893611 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:18893611G>A ENST00000446231.2 - 10 1581 c.1169C>T c.(1168-1170)cCt>cTt p.P390L SMG1_ENST00000565224.1_Missense_Mutation_p.P364L|SMG1_ENST00000389467.3_Missense_Mutation_p.P390L Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 390 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 CACTGATGGAGGAGGGACATC 0.473000 8 38 0 0 1 0 0 FCRL1 115350 broad.mit.edu 37 1 157771298 157771298 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:157771298G>A ENST00000368176.3 - 6 1023 c.956C>T c.(955-957)cCa>cTa p.P319L FCRL1_ENST00000489998.1_Intron|FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000491942.1_Missense_Mutation_p.P319L NM_001159398.1|NM_052938.4 NP_001152870.1|NP_443170.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 319 integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CACGGTGGCTGGACCAAGGGT 0.468000 11 67 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38121818 38121818 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr22:38121818C>T ENST00000406386.3 + 7 3510 c.3255C>T c.(3253-3255)ttC>ttT p.F1085F RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1085 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) TTGACCCCTTCCCCTTCCTCC 0.622000 42 141 0 0 1 0 0 RIT2 6014 broad.mit.edu 37 18 40503584 40503584 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr18:40503584G>A ENST00000589109.1 - 4 550 c.379C>T c.(379-381)Ccc>Tcc p.P127S RIT2_ENST00000590910.1_Silent_p.F147F|RIT2_ENST00000282028.4_Missense_Mutation_p.P127S|RIT2_ENST00000326695.5_Missense_Mutation_p.P127S NM_001272077.1 NP_001259006.1 Q99578 RIT2_HUMAN Ras-like without CAAX 2 127 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AGCACCAGGGGAATTTCATAG 0.478000 55 209 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207789950 207789950 + Missense_Mutation SNP T T C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:207789950T>C ENST00000367049.4 + 41 6692 c.6692T>C c.(6691-6693)cTt>cCt p.L2231P CR1_ENST00000367051.1_Missense_Mutation_p.L1781P|CR1_ENST00000367052.1_Missense_Mutation_p.L1781P|CR1_ENST00000400960.2_Missense_Mutation_p.L1781P|CR1_ENST00000367053.1_Missense_Mutation_p.L1781P NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1781 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CCAGCTATCCTTAATGGGAGA 0.403000 24 99 0 0 1 0 0 HEATR2 54919 broad.mit.edu 37 7 780983 780983 + Splice_Site SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:780983G>A ENST00000297440.6 + 4 925 c.e4-1 HEATR2_ENST00000438961.1_Splice_Site|HEATR2_ENST00000313147.5_Splice_Site NM_017802.3 NP_060272.3 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) TTGTGCCTCAGGCAGCTGGCT 0.647000 8 17 0 0 1 0 0 KIAA1804 84451 broad.mit.edu 37 1 233518327 233518327 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:233518327C>T ENST00000366624.3 + 10 3242 c.2981C>T c.(2980-2982)tCc>tTc p.S994F MLK4_ENST00000366622.1_Missense_Mutation_p.S440F NM_032435.2 NP_115811.2 AGAACTAAATCCCATGTGCCT 0.552000 23 111 0 0 1 0 0 UGT1A3 54659 broad.mit.edu 37 2 234638043 234638043 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:234638043C>T ENST00000482026.1 + 1 290 c.271C>T c.(271-273)Cgc>Tgc p.R91C UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000373445.1_Intron NM_019093.2 NP_061966.1 breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 46 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) TGAATTTGATCGCCATGTGCT 0.428000 16 122 0 0 1 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40850805 40850805 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:40850805C>T ENST00000264638.4 + 24 4249 c.4032C>T c.(4030-4032)acC>acT p.T1344T CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 1344 axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) AGGTCCCCACCCCTACAGCAG 0.652000 5 77 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57768049 57768049 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr20:57768049C>T ENST00000371030.2 + 1 1975 c.1975C>T c.(1975-1977)Cct>Tct p.P659S NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 659 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) ACTGGGCTTTCCTCTGCAGAA 0.582000 13 71 0 0 1 0 0 ZNF331 55422 broad.mit.edu 37 19 54080023 54080023 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:54080023G>A ENST00000253144.9 + 7 1542 c.209G>A c.(208-210)aGg>aAg p.R70K ZNF331_ENST00000449416.1_Missense_Mutation_p.R70K|ZNF331_ENST00000511593.2_Missense_Mutation_p.R70K|ZNF331_ENST00000513999.1_Missense_Mutation_p.R70K|ZNF331_ENST00000511154.1_Missense_Mutation_p.R70K|ZNF331_ENST00000513265.1_Missense_Mutation_p.R70K|ZNF331_ENST00000512387.1_Missense_Mutation_p.R70K|ZNF331_ENST00000411977.2_Missense_Mutation_p.R70K NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 70 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) GCTTCCAAAAGGAATTCAGAT 0.388000 T ? follicular thyroid adenoma 12 33 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212812196 212812196 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:212812196C>T ENST00000342788.4 - 3 690 c.380G>A c.(379-381)gGa>gAa p.G127E ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000402597.1_Missense_Mutation_p.G127E|ERBB4_ENST00000436443.1_Missense_Mutation_p.G127E NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 127 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TCCAAAGTTTCCATCTTTTCT 0.338000 TSP Lung(8;0.080) 4 36 0 0 1 0 0 ZNHIT1 10467 broad.mit.edu 37 7 100865994 100865994 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:100865994C>T ENST00000305105.2 + 2 660 c.132C>T c.(130-132)ccC>ccT p.P44P ZNHIT1_ENST00000492315.1_3'UTR NM_006349.2 NP_006340.1 O43257 ZNHI1_HUMAN zinc finger, HIT-type containing 1 44 metal ion binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2) 11 Lung NSC(181;0.168)|all_lung(186;0.215) AGGATGACCCCCACGCGGGAC 0.667000 16 114 0 0 1 0 0 LGR6 59352 broad.mit.edu 37 1 202288020 202288020 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:202288020C>T ENST00000367278.3 + 18 2678 c.2589C>T c.(2587-2589)tcC>tcT p.S863S LGR6_ENST00000255432.7_Silent_p.S811S|LGR6_ENST00000439764.2_Silent_p.S724S NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 863 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 AGAAGAGCTCCTGTGATTCTA 0.642000 14 71 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7064086 7064086 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:7064086G>A ENST00000299481.4 + 4 1175 c.829G>A c.(829-831)Gaa>Aaa p.E277K NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 277 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TGCACTGTGCGAAGACTGGAC 0.448000 17 74 0 0 1 0 0 AADACL4 343066 broad.mit.edu 37 1 12726256 12726256 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:12726256C>T ENST00000376221.1 + 4 734 c.734C>T c.(733-735)tCc>tTc p.S245F NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 245 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) CCATTACTTTCCCGGAAGTTC 0.517000 26 222 0 0 1 0 0 PRRC2C 23215 broad.mit.edu 37 1 171546720 171546720 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:171546720C>T ENST00000367742.3 + 26 7345 c.7103C>T c.(7102-7104)tCc>tTc p.S2368F PRRC2C_ENST00000338920.4_Missense_Mutation_p.S2366F|PRRC2C_ENST00000426496.2_Missense_Mutation_p.S2301F|PRRC2C_ENST00000392078.3_Missense_Mutation_p.S2368F Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 2366 Gln-rich. protein C-terminus binding TGTATGCCTTCCCTTATTGCC 0.413000 6 46 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44828178 44828178 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr20:44828178G>A ENST00000372262.3 - 7 1707 c.1307C>T c.(1306-1308)tCa>tTa p.S436L CDH22_ENST00000537909.1_Missense_Mutation_p.S436L NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 436 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) GTCCAAATCTGATTCGCGGTC 0.612000 6 33 0 0 1 0 0 SGK223 157285 broad.mit.edu 37 8 8185818 8185818 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:8185818G>A ENST00000520004.1 - 5 2738 c.2474C>T c.(2473-2475)tCa>tTa p.S825L SGK223_ENST00000330777.4_Missense_Mutation_p.S825L Q86YV5 SG223_HUMAN 825 ATP binding|non-membrane spanning protein tyrosine kinase activity GCCATCCGGTGAAGAGGCTGC 0.612000 27 117 0 0 1 0 0 FBP2 8789 broad.mit.edu 37 9 97329558 97329558 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:97329558G>A ENST00000375337.3 - 5 765 c.699C>T c.(697-699)ttC>ttT p.F233F PCAT7_ENST00000452148.2_RNA NM_003837.2 NP_003828.2 O00757 F16P2_HUMAN fructose-1,6-bisphosphatase 2 233 fructose metabolic process|gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding endometrium(1)|large_intestine(3)|lung(5) 9 Acute lymphoblastic leukemia(62;0.136) TCACCTCAGGGAATTTCTTTT 0.478000 27 121 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 170805155 170805155 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:170805155G>A ENST00000436636.2 - 24 3206 c.2862C>T c.(2860-2862)tcC>tcT p.S954S TNIK_ENST00000470834.1_Silent_p.S917S|TNIK_ENST00000369326.5_Silent_p.S932S|TNIK_ENST00000460047.1_Silent_p.S891S|TNIK_ENST00000357327.5_Silent_p.S925S|TNIK_ENST00000341852.6_Silent_p.S870S|TNIK_ENST00000284483.8_Silent_p.S946S|TNIK_ENST00000538048.1_Silent_p.S906S|TNIK_ENST00000488470.1_Silent_p.S899S|TNIK_ENST00000475336.1_Silent_p.S862S NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 954 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) CCATCTCCTGGGAATGGGTTG 0.557000 24 154 0 0 1 0 0 APBA1 320 broad.mit.edu 37 9 72064629 72064629 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:72064629G>A ENST00000265381.4 - 10 2274 c.2052C>T c.(2050-2052)atC>atT p.I684I NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 684 PDZ 1. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 TGTTGGCAATGATCACGGTGG 0.517000 19 104 0 0 1 0 0 SULF2 55959 broad.mit.edu 37 20 46331287 46331287 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr20:46331287C>T ENST00000359930.4 - 4 1394 c.543G>A c.(541-543)gaG>gaA p.E181E SULF2_ENST00000467815.1_Silent_p.E181E|SULF2_ENST00000484875.1_Silent_p.E181E|SULF2_ENST00000361612.4_Silent_p.E181E NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 181 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 AGCCGTGCTTCTCTTTCACCC 0.572000 16 46 0 0 1 0 0 ZNF445 353274 broad.mit.edu 37 3 44491944 44491944 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:44491944G>A ENST00000425708.2 - 5 1156 c.815C>T c.(814-816)tCc>tTc p.S272F ZNF445_ENST00000396077.2_Missense_Mutation_p.S272F P59923 ZN445_HUMAN zinc finger protein 445 272 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3) 31 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) CTTACCCAGGGAAGCCATGTT 0.493000 21 72 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216239936 216239936 + Splice_Site SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:216239936C>T ENST00000354785.4 - 38 6527 c.e38+1 FN1_ENST00000357867.4_Splice_Site|FN1_ENST00000336916.4_Splice_Site|FN1_ENST00000432072.2_Splice_Site|FN1_ENST00000421182.1_Splice_Site|FN1_ENST00000443816.1_Splice_Site|FN1_ENST00000357009.2_Splice_Site|FN1_ENST00000446046.1_Splice_Site|FN1_ENST00000359671.1_Splice_Site|FN1_ENST00000346544.3_Splice_Site|FN1_ENST00000323926.6_Splice_Site|FN1_ENST00000345488.5_Splice_Site|FN1_ENST00000356005.4_Splice_Site P02751 FINC_HUMAN fibronectin 1 acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGCAGCAATACCAGTAATAGT 0.498000 7 102 0 0 1 0 0 SOHLH2 54937 broad.mit.edu 37 13 36748638 36748638 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr13:36748638G>A ENST00000379881.3 - 8 944 c.856C>T c.(856-858)Ctc>Ttc p.L286F CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.L363F|SOHLH2_ENST00000554962.1_Missense_Mutation_p.L363F NM_017826.2 NP_060296.2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273) GTGCCTGGGAGAGACAGCTCA 0.398000 13 118 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52554681 52554681 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:52554681G>A ENST00000321725.6 + 54 5749 c.5673G>A c.(5671-5673)ctG>ctA p.L1891L NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1891 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TCTGTGGGCTGGAGCCACCCT 0.647000 11 202 0 0 1 0 0 GRPR 2925 broad.mit.edu 37 X 16170557 16170557 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:16170557C>T ENST00000380289.2 + 3 1342 c.944C>T c.(943-945)tCc>tTc p.S315F NM_005314.2 NP_005305.1 P30550 GRPR_HUMAN gastrin-releasing peptide receptor 315 cell proliferation integral to plasma membrane bombesin receptor activity p.S315Y(1) central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3) 25 Hepatocellular(33;0.183) TTCACCAACTCCTGCGTGAAC 0.562000 40 104 0 0 1 0 0 PTCH1 5727 broad.mit.edu 37 9 98209334 98209334 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:98209334G>A ENST00000430669.2 - 23 4591 c.4006C>T c.(4006-4008)Cct>Tct p.P1336S PTCH1_ENST00000331920.6_Missense_Mutation_p.P1402S|PTCH1_ENST00000437951.1_Missense_Mutation_p.P1336S|PTCH1_ENST00000375274.2_Missense_Mutation_p.P1401S|PTCH1_ENST00000418258.1_Missense_Mutation_p.P1251S|PTCH1_ENST00000429896.2_Missense_Mutation_p.P1251S|PTCH1_ENST00000421141.1_Missense_Mutation_p.P1251S Q13635 PTC1_HUMAN patched 1 1402 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) TCAGTCTCAGGGTAGCCTGGG 0.657000 21 89 0 0 1 0 0 UPF2 26019 broad.mit.edu 37 10 12077166 12077166 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:12077166G>A ENST00000356352.2 - 1 730 c.257C>T c.(256-258)tCa>tTa p.S86L UPF2_ENST00000460569.1_5'UTR|UPF2_ENST00000357604.5_Missense_Mutation_p.S86L|UPF2_ENST00000397053.2_Missense_Mutation_p.S86L Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 86 Glu/Lys-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) ttttttctttgattcttcctC 0.403000 8 35 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92531961 92531961 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:92531961G>A ENST00000298047.6 + 9 5799 c.5782G>A c.(5782-5784)Gat>Aat p.D1928N FAT3_ENST00000525166.1_Missense_Mutation_p.D1778N|FAT3_ENST00000409404.2_Missense_Mutation_p.D1928N Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1928 Cadherin 17. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGGCAGTTTGGATCATTTTTT 0.423000 TCGA Ovarian(4;0.039) 4 22 0 0 1 0 0 UGT1A9 54600 broad.mit.edu 37 2 234581022 234581022 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:234581022G>A ENST00000354728.4 + 1 524 c.442G>A c.(442-444)Gat>Aat p.D148N UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron NM_021027.2 NP_066307.1 p.D148N(1) breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 37 Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128) Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757) AGTGTTTCTCGATCCTTTTGA 0.373000 9 106 0 0 1 0 0 PAPOLB 56903 broad.mit.edu 37 7 4899900 4899900 + Missense_Mutation SNP T T G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:4899900T>G ENST00000404991.1 - 1 1725 c.1539A>C c.(1537-1539)agA>agC p.R513S RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron NM_020144.4 NP_064529.4 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 513 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) CTGTCAATCTTCTACCTTCTG 0.438000 10 65 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9353699 9353699 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr20:9353699G>A ENST00000378501.2 + 9 707 c.692G>A c.(691-693)gGa>gAa p.G231E PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.G231E|PLCB4_ENST00000414679.2_Missense_Mutation_p.G231E|PLCB4_ENST00000278655.4_Missense_Mutation_p.G231E|PLCB4_ENST00000334005.3_Missense_Mutation_p.G231E|PLCB4_ENST00000378473.3_Missense_Mutation_p.G231E NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 231 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TTCAGCAATGGAGACAAAACT 0.303000 4 12 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179542556 179542556 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:179542556C>T ENST00000589042.1 - 146 34307 c.34083G>A c.(34081-34083)gaG>gaA p.E11361E TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.E11044E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.E10117E|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11044 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTAGAACTTCCTCTTCAGGAA 0.428000 12 108 0 0 1 0 0 PDE5A 8654 broad.mit.edu 37 4 120425692 120425692 + Splice_Site SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr4:120425692C>T ENST00000354960.3 - 18 2649 c.2331_splice c.e18+1 p.R777_splice RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000264805.5_Splice_Site_p.R735_splice|PDE5A_ENST00000394439.1_Splice_Site_p.R725_splice NM_001083.3 NP_001074.2 O76074 PDE5A_HUMAN phosphodiesterase 5A, cGMP-specific 777 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 27 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) GTAACATACCCGTTGTTGAAT 0.348000 12 54 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164783075 164783075 + Missense_Mutation SNP A A G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:164783075A>G ENST00000264382.3 - 7 843 c.781T>C c.(781-783)Ttt>Ctt p.F261L NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 261 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TCTCGAGTAAAAATTGGCCAT 0.318000 HNSCC(35;0.089) 13 61 0 0 1 0 0 KCNQ3 3786 broad.mit.edu 37 8 133153556 133153556 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:133153556G>A ENST00000388996.4 - 10 1705 c.1285C>T c.(1285-1287)Cgg>Tgg p.R429W KCNQ3_ENST00000521134.1_Missense_Mutation_p.R309W|KCNQ3_ENST00000519445.1_Missense_Mutation_p.R429W NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 429 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) AGGCGAACCCGATCCAAGAGA 0.413000 11 53 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58240877 58240877 + Missense_Mutation SNP G G C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr13:58240877G>C ENST00000377918.3 + 3 2733 c.2707G>C c.(2707-2709)Gac>Cac p.D903H NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 903 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CAGTGACCAAGACACTAACAA 0.473000 9 60 0 0 1 0 0 CD177 57126 broad.mit.edu 37 19 43859874 43859874 + RNA SNP A A C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:43859874A>C ENST00000378009.4 + 0 483 CD177_ENST00000607517.1_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) AGGGGACAACAGAAGAGATCT 0.582000 6 59 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48452118 48452118 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:48452118G>A ENST00000435803.1 + 41 12421 c.12397G>A c.(12397-12399)Gat>Aat p.D4133N NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4133 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CCAGGCCCTGGATGAGAACCT 0.493000 21 105 0 0 1 0 0 WDR76 79968 broad.mit.edu 37 15 44158466 44158466 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr15:44158466C>T ENST00000263795.6 + 13 1827 c.1757C>T c.(1756-1758)tCg>tTg p.S586L WDR76_ENST00000381246.2_Missense_Mutation_p.S522L|WDR76_ENST00000478130.1_3'UTR NM_001167941.1|NM_024908.3 NP_001161413.1|NP_079184.2 Q9H967 WDR76_HUMAN WD repeat domain 76 586 breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2) 20 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07) AGGGTGCATTCGTTTGGTGGA 0.483000 32 92 0 0 1 0 0 TMPRSS4 56649 broad.mit.edu 37 11 117982545 117982545 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:117982545G>A ENST00000534111.1 + 8 932 c.667G>A c.(667-669)Gac>Aac p.D223N TMPRSS4_ENST00000437212.3_Missense_Mutation_p.D225N|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.D185N|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.D220N|TMPRSS4_ENST00000522307.1_Missense_Mutation_p.D78N NM_001083947.1|NM_001173551.1|NM_019894.3 NP_001077416.1|NP_001167022.1|NP_063947.1 Q9NRS4 TMPS4_HUMAN transmembrane protease, serine 4 225 Peptidase S1. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238) BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204) CATCCAGTACGACAAACAGCA 0.617000 7 72 0 0 1 0 0 ESR1 2099 broad.mit.edu 37 6 152201873 152201873 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:152201873C>T ENST00000440973.1 + 5 1097 c.727C>T c.(727-729)Cgt>Tgt p.R243C ESR1_ENST00000338799.5_Missense_Mutation_p.R243C|ESR1_ENST00000544394.1_Missense_Mutation_p.R70C|ESR1_ENST00000206249.3_Missense_Mutation_p.R243C|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000456483.2_Missense_Mutation_p.R243C|ESR1_ENST00000443427.1_Missense_Mutation_p.R243C NM_001122742.1 NP_001116214.1 P03372 ESR1_HUMAN estrogen receptor 1 243 Mediates interaction with DNTTIP2. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1) 49 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) CTGCCGGCTCCGTAAATGCTA 0.547000 15 36 0 0 1 0 0 OR4K1 79544 broad.mit.edu 37 14 20404664 20404664 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr14:20404664C>T ENST00000285600.4 + 1 898 c.839C>T c.(838-840)cCc>cTc p.P280L NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) GTTTGTACTCCCTTGTTGAAC 0.418000 20 256 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123742403 123742403 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:123742403G>A ENST00000223642.1 - 28 3645 c.3616C>T c.(3616-3618)Cgt>Tgt p.R1206C NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 1206 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) ACAATTGAACGAAACTGTGGG 0.408000 18 63 0 0 1 0 0 PRKCD 5580 broad.mit.edu 37 3 53215257 53215257 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:53215257C>T ENST00000394729.2 + 4 678 c.350C>T c.(349-351)tCt>tTt p.S117F PRKCD_ENST00000330452.3_Missense_Mutation_p.S117F NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 117 activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) GTGTTGATGTCTGTTCAGTAT 0.617000 10 42 0 0 1 0 0 AKNA 80709 broad.mit.edu 37 9 117108984 117108984 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:117108984G>A ENST00000307564.4 - 17 3640 c.3479C>T c.(3478-3480)tCc>tTc p.S1160F AKNA_ENST00000374075.5_Missense_Mutation_p.S1079F|AKNA_ENST00000374088.3_Missense_Mutation_p.S1160F|AKNA_ENST00000374079.4_Missense_Mutation_p.S105F|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000223791.3_Missense_Mutation_p.S620F NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 1160 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 AGGCACTGAGGAAGACCTGGC 0.547000 20 70 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457192 110457192 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:110457192C>T ENST00000378402.5 + 38 5198 c.5094C>T c.(5092-5094)ttC>ttT p.F1698F NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1698 IPT/TIG 9. immune response cytosol|extracellular space|integral to membrane receptor activity p.P1701fs*7(1) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TGGGTCATTTCCCATGTAAAG 0.438000 HNSCC(38;0.096) 39 149 0 0 1 0 0 OR6C6 283365 broad.mit.edu 37 12 55688321 55688321 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:55688321C>T ENST00000358433.2 - 1 695 c.696G>A c.(694-696)agG>agA p.R232R NM_001005493.1 NP_001005493.1 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, member 6 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 ATGCTTTGTTCCTTTGCTGTG 0.393000 16 69 0 0 1 0 0 STC1 6781 broad.mit.edu 37 8 23709814 23709814 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:23709814C>T ENST00000290271.2 - 2 485 c.202G>A c.(202-204)Gat>Aat p.D68N STC1_ENST00000524323.1_5'UTR NM_003155.2 NP_003146.1 P52823 STC1_HUMAN stanniocalcin 1 68 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) TACATCCCATCTGTGTCACAG 0.493000 29 98 0 0 1 0 0 OR2M4 26245 broad.mit.edu 37 1 248402473 248402473 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:248402473G>A ENST00000306687.1 + 1 243 c.243G>A c.(241-243)atG>atA p.M81I NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TACCCAAGATGATCTTCAGCT 0.463000 27 115 0 0 1 0 0 AMER3 205147 broad.mit.edu 37 2 131521406 131521406 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:131521406G>A ENST00000423981.1 + 2 1871 c.1761G>A c.(1759-1761)ggG>ggA p.G587G AMER3_ENST00000321420.4_Silent_p.G587G NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 CCCTCGGAGGGGCCACACAAG 0.642000 13 62 0 0 1 0 0 ZNF451 26036 broad.mit.edu 37 6 57011995 57011995 + Missense_Mutation SNP T T C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:57011995T>C ENST00000370706.4 + 10 1356 c.1112T>C c.(1111-1113)tTt>tCt p.F371S RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.F371S|ZNF451_ENST00000491832.2_Missense_Mutation_p.F371S|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 371 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) AATCAAGTCTTTGTGGATGAA 0.423000 19 87 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24300070 24300070 + Missense_Mutation SNP C C G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:24300070C>G ENST00000175238.6 + 2 220 c.137C>G c.(136-138)aCc>aGc p.T46S ADAM7_ENST00000380789.1_Missense_Mutation_p.T46S|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000441335.2_Missense_Mutation_p.T46S|RP11-624C23.1_ENST00000523578.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 46 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) ACTGGACACACCCATGATGAT 0.408000 35 159 0 0 1 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77913710 77913710 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:77913710G>A ENST00000321110.1 - 2 503 c.208C>T c.(208-210)Ccc>Tcc p.P70S NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 70 Pro-rich. nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 GCTGCTGGGGGATTCATGTGC 0.587000 4 6 0 0 1 0 0 LILRA2 11027 broad.mit.edu 37 19 55085958 55085958 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:55085958C>T ENST00000251377.3 + 4 394 c.261C>T c.(259-261)atC>atT p.I87I LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000251376.3_Silent_p.I87I|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Silent_p.I87I|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Silent_p.I75I leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) TCCCATCCATCACCTGGGAAC 0.527000 10 93 0 0 1 0 0 CCDC11 220136 broad.mit.edu 37 18 47753835 47753835 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr18:47753835G>A ENST00000398545.4 - 8 1578 c.1461C>T c.(1459-1461)gtC>gtT p.V487V NM_145020.3 NP_659457.2 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 487 endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1) 20 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) GGACCTCCTGGACCTTGTCCA 0.517000 18 68 0 0 1 0 0 SSTR5 6755 broad.mit.edu 37 16 1129823 1129823 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:1129823C>T ENST00000293897.4 + 1 1043 c.955C>T c.(955-957)Ctg>Ttg p.L319L SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Silent_p.L319L NM_001053.3 NP_001044.1 P35346 SSR5_HUMAN somatostatin receptor 5 319 negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity endometrium(2)|lung(5)|prostate(1)|skin(1) 9 Hepatocellular(780;0.00369) Octreotide(DB00104) CCAGAAGGTTCTGTGCCTCCG 0.642000 3 28 0 0 1 0 0 ADSSL1 122622 broad.mit.edu 37 14 105212677 105212677 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr14:105212677G>A ENST00000332972.5 + 12 1564 c.1405G>A c.(1405-1407)Gcc>Acc p.A469T ADSSL1_ENST00000556623.1_Missense_Mutation_p.A32T|ADSSL1_ENST00000330877.2_Missense_Mutation_p.A426T|ADSSL1_ENST00000554657.1_3'UTR|ADSSL1_ENST00000555674.1_Missense_Mutation_p.A32T NM_199165.1 NP_954634.1 Q8N142 PURA1_HUMAN adenylosuccinate synthase like 1 426 AMP biosynthetic process|immune system process|purine base metabolic process cytosol adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1) 11 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.18) L-Aspartic Acid(DB00128) GCCCCCACAGGCCCAGAACTA 0.627000 5 41 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 100179205 100179205 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:100179205G>A ENST00000527185.1 + 21 3074 c.2735G>A c.(2734-2736)tGa>tAa p.*912* CNTN5_ENST00000524871.1_Intron|CNTN5_ENST00000528682.1_Intron|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000279463.3_Intron|CNTN5_ENST00000524560.1_Intron NM_001243271.1 NP_001230200.1 O94779 CNTN5_HUMAN contactin 5 0 Fibronectin type-III 3. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TTTGAGGTATGAACAGAATGA 0.398000 4 28 0 0 1 0 0 SULT1E1 6783 broad.mit.edu 37 4 70710060 70710060 + Splice_Site SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr4:70710060C>T ENST00000226444.3 - 7 704 c.e7-1 NM_005420.2 NP_005411.1 P49888 ST1E1_HUMAN sulfotransferase family 1E, estrogen-preferring, member 1 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 TTCTGATATCCTAGGGAGAGA 0.338000 13 32 0 0 1 0 0 ALCAM 214 broad.mit.edu 37 3 105243202 105243202 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:105243202G>A ENST00000306107.5 + 3 744 c.244G>A c.(244-246)Gat>Aat p.D82N ALCAM_ENST00000472644.2_Missense_Mutation_p.D82N|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000486979.2_Missense_Mutation_p.D31N NM_001627.3 NP_001618.2 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 82 Ig-like V-type 1. cell adhesion|signal transduction integral to membrane receptor binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 GCAGTACGACGATGTACCAGA 0.363000 11 71 0 0 1 0 0 FDXR 2232 broad.mit.edu 37 17 72859026 72859026 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:72859026G>A ENST00000442102.2 - 12 1604 c.1518C>T c.(1516-1518)gcC>gcT p.A506A FDXR_ENST00000582944.1_Silent_p.A455A|FDXR_ENST00000583917.1_Silent_p.A435A|FDXR_ENST00000581530.1_Silent_p.A469A|FDXR_ENST00000455107.2_3'UTR|FDXR_ENST00000544854.1_Silent_p.A411A|FDXR_ENST00000293195.5_Silent_p.A463A|FDXR_ENST00000420580.2_Silent_p.A423A|FDXR_ENST00000413947.2_Silent_p.A494A NM_001258012.1 NP_001244941.1 P22570 ADRO_HUMAN ferredoxin reductase 463 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) CCACCTCCTCGGCATCCAGCT 0.657000 29 93 0 0 1 0 0 F2RL2 2151 broad.mit.edu 37 5 75913830 75913830 + Missense_Mutation SNP T T A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:75913830T>A ENST00000296641.4 - 2 905 c.702A>T c.(700-702)gaA>gaT p.E234D IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000502745.1_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.E212D|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000396234.3_Intron NM_004101.3 NP_004092.1 O00254 PAR3_HUMAN coagulation factor II (thrombin) receptor-like 2 234 platelet activation extracellular region|integral to plasma membrane phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3) 32 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) CAAGATAATATTCCTGCTTCA 0.468000 3 47 0 0 1 0 0 XRRA1 143570 broad.mit.edu 37 11 74651883 74651883 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:74651883G>A ENST00000340360.6 - 3 372 c.41C>T c.(40-42)cCt>cTt p.P14L XRRA1_ENST00000321448.8_Intron|XRRA1_ENST00000533598.1_Intron|XRRA1_ENST00000527087.1_Missense_Mutation_p.P14L NM_182969.2 NP_892014.1 Q6P2D8 XRRA1_HUMAN X-ray radiation resistance associated 1 14 response to X-ray cytoplasm|nucleus breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3) 20 GTTCAGGTAAGGCTTCCCATC 0.517000 8 14 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55221458 55221458 + RNA SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:55221458G>A ENST00000413439.1 + 0 1238 GTACAAGGAGGGGGGACATGA 0.657000 13 40 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161006178 161006178 + Nonsense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:161006178G>A ENST00000447678.1 - 27 4309 c.4189C>T c.(4189-4191)Cga>Tga p.R1397* LPA_ENST00000316300.5_Nonsense_Mutation_p.R1397* NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3905 Kringle 13. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) AGTGTGCCTCGATAACTCTGT 0.463000 55 193 0 0 1 0 0 KIAA2026 158358 broad.mit.edu 37 9 5920144 5920144 + Nonsense_Mutation SNP A A C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:5920144A>C ENST00000399933.3 - 8 5851 c.5852T>G c.(5851-5853)tTa>tGa p.L1951* KIAA2026_ENST00000381461.2_Nonsense_Mutation_p.L1921* NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 1951 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TTGGCCACTTAAGGAATTATT 0.398000 30 69 0 0 1 0 0 OLFM1 10439 broad.mit.edu 37 9 138011438 138011438 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:138011438C>T ENST00000252854.4 + 6 1005 c.818C>T c.(817-819)tCc>tTc p.S273F OLFM1_ENST00000371796.3_Missense_Mutation_p.S264F|OLFM1_ENST00000371793.3_Missense_Mutation_p.S291F NM_014279.4 NP_055094.1 Q99784 NOE1_HUMAN olfactomedin 1 291 Olfactomedin-like. nervous system development endoplasmic reticulum lumen protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2) 21 Myeloproliferative disorder(178;0.0333) Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07) AATTTCACCTCCCACCGTCTC 0.532000 30 83 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77775665 77775665 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:77775665G>A ENST00000521891.2 + 11 10163 c.9715G>A c.(9715-9717)Gat>Aat p.D3239N ZFHX4_ENST00000455469.2_Missense_Mutation_p.D3194N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D3190N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D3213N NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3190 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AACACATGTCGATCCTATTCA 0.448000 HNSCC(33;0.089) 25 130 0 0 1 0 0 MEGF11 84465 broad.mit.edu 37 15 66207884 66207884 + Nonstop_Mutation SNP C C A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr15:66207884C>A ENST00000360698.4 - 19 2767 c.2627G>T c.(2626-2628)tGa>tTa p.*876L MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000422354.1_Missense_Mutation_p.M799I|MEGF11_ENST00000288745.3_Missense_Mutation_p.M724I|MEGF11_ENST00000409699.2_Missense_Mutation_p.M799I|MEGF11_ENST00000395625.2_Missense_Mutation_p.M724I A6BM72 MEG11_HUMAN multiple EGF-like-domains 11 0 basolateral plasma membrane|integral to membrane breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 19 TGGAGTTGTTCATGCACTCAC 0.552000 4 37 1 1 1 1 0 SYCP2L 221711 broad.mit.edu 37 6 10912933 10912933 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:10912933G>A ENST00000283141.6 + 13 1242 c.946G>A c.(946-948)Gag>Aag p.E316K SYCP2L_ENST00000543878.1_Missense_Mutation_p.E157K|RP11-637O19.3_ENST00000480294.1_3'UTR NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 316 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) TGAAAAATTAGAGAAATTTTG 0.353000 17 63 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 95001366 95001366 + Splice_Site SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr15:95001366G>A ENST00000357742.4 + 19 2251 c.2250_splice c.e19-1 p.E751_splice MCTP2_ENST00000451018.3_Splice_Site_p.E696_splice NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 751 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) TGTTTTCTAGGAATCTGAGAA 0.299000 4 52 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120185 38120185 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr22:38120185C>T ENST00000406386.3 + 7 1877 c.1622C>T c.(1621-1623)cCc>cTc p.P541L RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 541 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GCCTCCTCTCCCAATAGAGCT 0.587000 23 258 0 0 1 0 0 ACAD10 80724 broad.mit.edu 37 12 112182658 112182658 + Silent SNP T T C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:112182658T>C ENST00000455480.2 + 14 2196 c.2019T>C c.(2017-2019)gcT>gcC p.A673A ACAD10_ENST00000549590.1_Silent_p.A642A|ACAD10_ENST00000313698.4_Silent_p.A642A|ACAD10_ENST00000392636.2_Silent_p.A244A|ACAD10_ENST00000413681.3_3'UTR NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 642 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 TTCCAGAAGCTTCCCCAGCTC 0.572000 5 79 0 0 1 0 0 XRCC1 7515 broad.mit.edu 37 19 44056253 44056253 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:44056253G>A ENST00000262887.5 - 9 1545 c.998C>T c.(997-999)cCc>cTc p.P333L XRCC1_ENST00000543982.1_Missense_Mutation_p.P302L P18887 XRCC1_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 1 333 BRCT 1. 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) GGAGCGGAAGGGGTTCTGGAA 0.647000 Other BER factors 21 81 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55539790 55539790 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:55539790C>T ENST00000220676.1 + 4 3496 c.3348C>T c.(3346-3348)ccC>ccT p.P1116P NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1116 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CAGGTGTTCCCTTTCATTCTG 0.423000 9 47 0 0 1 0 0 AADAC 13 broad.mit.edu 37 3 151545384 151545384 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:151545384C>T ENST00000232892.6 + 5 750 c.624C>T c.(622-624)gtC>gtT p.V208V RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA NM_001086.2 NP_001077.2 P22760 AAAD_HUMAN arylacetamide deacetylase 208 positive regulation of triglyceride catabolic process endoplasmic reticulum membrane|integral to membrane|microsome carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2) 19 Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112) LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) ACCCAGATGTCAAGATCAAAC 0.318000 7 52 0 0 1 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22846947 22846947 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr15:22846947C>T ENST00000283645.4 + 8 952 c.822C>T c.(820-822)acC>acT p.T274T TUBGCP5_ENST00000453949.2_Silent_p.T274T NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 274 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) TTCGGGAAACCCTATGGTAAG 0.358000 11 66 0 0 1 0 0 AICDA 57379 broad.mit.edu 37 12 8758052 8758052 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:8758052G>A ENST00000229335.6 - 3 289 c.186C>T c.(184-186)ctC>ctT p.L62L AICDA_ENST00000537228.1_Silent_p.L62L NM_020661.2 NP_065712.1 Q9GZX7 AICDA_HUMAN activation-induced cytidine deaminase 62 B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing cytoplasm cytidine deaminase activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1) 16 Lung SC(5;0.184) AGATGTAGCGGAGGAAGAGCA 0.577000 17 87 0 0 1 0 0 ZSCAN29 146050 broad.mit.edu 37 15 43656348 43656348 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr15:43656348G>A ENST00000396976.2 - 4 1589 c.1455C>T c.(1453-1455)ccC>ccT p.P485P ZSCAN29_ENST00000562072.1_Silent_p.P484P|ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000568898.1_Intron NM_152455.3 NP_689668.3 Q8IWY8 ZSC29_HUMAN zinc finger and SCAN domain containing 29 485 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2) 24 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.97e-07) CTTCAAAGAAGGGACAGGTCT 0.537000 13 112 0 0 1 0 0 BYSL 705 broad.mit.edu 37 6 41895271 41895271 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:41895271C>T ENST00000230340.4 + 2 803 c.428C>T c.(427-429)gCc>gTc p.A143V NM_004053.3 NP_004044.3 Q13895 BYST_HUMAN bystin-like 143 cell adhesion|female pregnancy|ribosome biogenesis cytoplasm|nucleolus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1) 8 Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) AACCCTCCTGCCAGGTAGGCC 0.517000 23 95 0 0 1 0 0 PODN 127435 broad.mit.edu 37 1 53543377 53543377 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:53543377C>T ENST00000371500.3 + 9 1187 c.846C>T c.(844-846)atC>atT p.I282I PODN_ENST00000395871.2_Silent_p.I159I|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Silent_p.I301I NM_001199080.1 NP_001186009.1 Q7Z5L7 PODN_HUMAN podocan 253 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TGGAGAAGATCCCCCCGGGGG 0.617000 19 221 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2063806 2063806 + Nonsense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:2063806C>T ENST00000262113.4 + 26 3376 c.3235C>T c.(3235-3237)Cga>Tga p.R1079* MYOM2_ENST00000523438.1_Nonsense_Mutation_p.R504* NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 1079 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) GGTGATGGATCGATTTAGTAT 0.378000 22 100 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42489289 42489289 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:42489289G>A ENST00000545399.1 - 8 966 c.813C>T c.(811-813)ggC>ggT p.G271G ATP1A3_ENST00000602133.1_Silent_p.G228G|ATP1A3_ENST00000543770.1_Silent_p.G269G|ATP1A3_ENST00000302102.5_Silent_p.G258G NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 258 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 TGGCGATACGGCCCATGACAG 0.667000 7 37 0 0 1 0 0 SLC4A8 9498 broad.mit.edu 37 12 51857446 51857446 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:51857446G>A ENST00000453097.2 + 11 1514 c.1297G>A c.(1297-1299)Gaa>Aaa p.E433K SLC4A8_ENST00000394856.1_Missense_Mutation_p.E380K|SLC4A8_ENST00000535225.2_Missense_Mutation_p.E380K|SLC4A8_ENST00000358657.3_Missense_Mutation_p.E460K|SLC4A8_ENST00000514353.3_Missense_Mutation_p.E380K NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 433 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) TTGCCACATAGAACAGGAACC 0.458000 11 75 0 0 1 0 0 TNFRSF19 55504 broad.mit.edu 37 13 24242875 24242875 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr13:24242875C>T ENST00000382263.3 + 9 1068 c.884C>T c.(883-885)tCc>tTc p.S295F TNFRSF19_ENST00000403372.2_Missense_Mutation_p.S163F|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.S295F|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.S295F NM_001204458.1 NP_001191387.1 Q9NS68 TNR19_HUMAN tumor necrosis factor receptor superfamily, member 19 295 apoptosis|induction of apoptosis|JNK cascade integral to membrane|mitochondrion tumor necrosis factor receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 22 all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19) TTCTTCGGATCCCTCACGCAG 0.493000 18 139 0 0 1 0 0 CFHR3 10878 broad.mit.edu 37 1 196748424 196748424 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:196748424G>A ENST00000471440.2 + 2 265 c.191G>A c.(190-192)gGa>gAa p.G64E CFHR3_ENST00000391985.3_Missense_Mutation_p.G64E|CFHR3_ENST00000367425.4_Missense_Mutation_p.G64E complement factor H-related 3 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 ACTCCTTCAGGAAGTTACTGG 0.393000 18 137 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71576996 71576996 + Silent SNP C C T rs145388354 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:71576996C>T ENST00000409544.1 + 2 1542 c.912C>T c.(910-912)gtC>gtT p.V304V ZNF638_ENST00000355812.3_Silent_p.V304V|ZNF638_ENST00000377802.2_Silent_p.V304V|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Silent_p.V304V NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 304 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 GACAGTCAGTCCTTGAACCCA 0.438000 15 143 0 0 1 0 0 ACSM1 116285 broad.mit.edu 37 16 20696606 20696606 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:20696606C>T ENST00000307493.4 - 2 379 c.312G>A c.(310-312)caG>caA p.Q104Q ACSM1_ENST00000520010.1_Silent_p.Q104Q|ACSM1_ENST00000219151.4_5'UTR NM_052956.2 NP_443188.2 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 104 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 GGCCACAGGTCTGTGTGAAGA 0.557000 16 107 0 0 1 0 0 TAF1 6872 broad.mit.edu 37 X 70597602 70597602 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:70597602C>T ENST00000449580.1 + 6 912 c.861C>T c.(859-861)agC>agT p.S287S TAF1_ENST00000373790.4_Silent_p.S287S|TAF1_ENST00000423759.1_Silent_p.S308S|TAF1_ENST00000276072.3_Silent_p.S308S P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 287 Protein kinase 1. G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) CAGAAGTCAGCCAGAAGTCTT 0.507000 18 33 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121647845 121647845 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:121647845C>T ENST00000489711.1 + 16 1746 c.1358C>T c.(1357-1359)tCc>tTc p.S453F SLC15A2_ENST00000465060.1_3'UTR|SLC15A2_ENST00000295605.2_Missense_Mutation_p.S422F NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 453 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) CCACACTATTCCAAACTGCAC 0.403000 20 121 0 0 1 0 0 MVD 4597 broad.mit.edu 37 16 88723968 88723968 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:88723968C>T ENST00000301012.3 - 4 308 c.279G>A c.(277-279)cgG>cgA p.R93R MVD_ENST00000568709.1_5'UTR NM_002461.1 NP_002452.1 P53602 MVD1_HUMAN mevalonate (diphospho) decarboxylase 93 cholesterol biosynthetic process|positive regulation of cell proliferation cytosol ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity endometrium(3)|large_intestine(1)|lung(7)|ovary(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.0478) GTGAGTTCCTCCGCTTCCGGG 0.697000 11 67 0 0 1 0 0 ERMN 57471 broad.mit.edu 37 2 158182172 158182172 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:158182172G>A ENST00000397283.2 - 2 255 c.22C>T c.(22-24)Cgg>Tgg p.R8W ERMN_ENST00000420719.2_5'UTR|ERMN_ENST00000409216.1_5'UTR|ERMN_ENST00000410096.1_5'UTR NM_001009959.1 NP_001009959.1 Q8TAM6 ERMIN_HUMAN ermin, ERM-like protein 0 cytoplasm|cytoskeleton endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 GGTTGAATCCGATCTGGAGAG 0.448000 19 137 0 0 1 0 0 GPR176 11245 broad.mit.edu 37 15 40093774 40093774 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr15:40093774G>A ENST00000299092.3 - 4 1302 c.1104C>T c.(1102-1104)ctC>ctT p.L368L GPR176_ENST00000561100.1_Silent_p.L369L|GPR176_ENST00000543580.1_Silent_p.L324L NM_001271854.1|NM_001271855.1 NP_001258783.1|NP_001258784.1 Q14439 GP176_HUMAN G protein-coupled receptor 176 369 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) ACATCTCCAGGAGCTGGCTAC 0.567000 17 132 0 0 1 0 0 DGKG 1608 broad.mit.edu 37 3 185906104 185906104 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:185906104G>A ENST00000265022.3 - 22 2521 c.1982C>T c.(1981-1983)cCc>cTc p.P661L DGKG_ENST00000344484.4_Missense_Mutation_p.P636L|DGKG_ENST00000544847.1_Missense_Mutation_p.P602L|DGKG_ENST00000382164.4_Missense_Mutation_p.P622L NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 661 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) GTACATGCTGGGAATGTTGAG 0.527000 15 84 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870625 51870625 + Missense_Mutation SNP A A G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr20:51870625A>G ENST00000371497.5 + 2 1515 c.628A>G c.(628-630)Aca>Gca p.T210A TSHZ2_ENST00000329613.6_Missense_Mutation_p.T207A|TSHZ2_ENST00000603338.2_Missense_Mutation_p.T207A NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 210 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) GACTGTGTTCACAGGGGCCAG 0.572000 12 53 0 0 1 0 0 TPST1 8460 broad.mit.edu 37 7 65705894 65705894 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:65705894C>T ENST00000304842.5 + 2 907 c.482C>T c.(481-483)cCt>cTt p.P161L TPST1_ENST00000480281.1_Intron NM_003596.3 NP_003587.1 O60507 TPST1_HUMAN tyrosylprotein sulfotransferase 1 161 inflammatory response|peptidyl-tyrosine sulfation Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 AATAAAGATCCTTTTGCCCTG 0.423000 7 49 0 0 1 0 0 GPATCH2 55105 broad.mit.edu 37 1 217688184 217688184 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:217688184G>A ENST00000366935.3 - 6 1256 c.1146C>T c.(1144-1146)tcC>tcT p.S382S NM_018040.2 NP_060510.1 Q9NW75 GPTC2_HUMAN G patch domain containing 2 382 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) GAGAATCCGGGGAAAAATGAA 0.353000 4 55 0 0 1 0 0 RNF168 165918 broad.mit.edu 37 3 196215503 196215503 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:196215503C>T ENST00000318037.3 - 2 947 c.353G>A c.(352-354)aGa>aAa p.R118K NM_152617.3 NP_689830.2 Q8IYW5 RN168_HUMAN ring finger protein 168, E3 ubiquitin protein ligase 118 Glu-rich. double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1) 20 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) TTCATATTCTCTTCTCAGTTC 0.308000 12 36 0 0 1 0 0 CHRNG 1146 broad.mit.edu 37 2 233407617 233407617 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:233407617C>T ENST00000389494.3 + 7 651 c.630C>T c.(628-630)caC>caT p.H210H CHRNG_ENST00000389492.3_Silent_p.H158H NM_005199.4 NP_005190.4 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma (muscle) 210 muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) CCATCCAGCACCGACCAGCCA 0.647000 4 32 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10480303 10480303 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:10480303C>T ENST00000382483.3 - 2 632 c.409G>A c.(409-411)Gaa>Aaa p.E137K RP1L1_ENST00000329335.3_5'UTR NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 137 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CCTGGGGCTTCACGCTGGCCT 0.602000 14 49 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63269283 63269283 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr14:63269283G>A ENST00000322893.7 - 9 1854 c.1586C>T c.(1585-1587)cCc>cTc p.P529L KCNH5_ENST00000420622.2_Missense_Mutation_p.P529L|KCNH5_ENST00000394968.1_Missense_Mutation_p.P471L NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 529 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CATGTCCTTGGGACAGATGGA 0.438000 6 23 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179631290 179631290 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:179631290G>A ENST00000444136.1 + 15 2624 c.2374G>A c.(2374-2376)Gat>Aat p.D792N TDRD5_ENST00000367614.1_Missense_Mutation_p.D738N|TDRD5_ENST00000294848.8_Missense_Mutation_p.D738N NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 790 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 CATAGGTGATGATATTTGGGA 0.423000 24 118 0 0 1 0 0 MOV10 4343 broad.mit.edu 37 1 113232261 113232261 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:113232261C>T ENST00000369644.1 + 5 1427 c.398C>T c.(397-399)cCa>cTa p.P133L MOV10_ENST00000369645.1_Missense_Mutation_p.P189L|MOV10_ENST00000357443.2_Missense_Mutation_p.P189L|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Missense_Mutation_p.P189L Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog (mouse) 189 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) TTGCCCTGTCCACTGGGCCCC 0.557000 10 127 0 0 1 0 0 SPACA3 124912 broad.mit.edu 37 17 31322465 31322465 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:31322465G>A ENST00000269053.3 + 2 143 c.73G>A c.(73-75)Gga>Aga p.G25R SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000580599.1_5'UTR NM_173847.3 NP_776246.1 Q8IXA5 SACA3_HUMAN sperm acrosome associated 3 25 cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(9;0.193) TTCTGTGAGTGGACCACGGAG 0.617000 16 135 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144941471 144941471 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:144941471C>T ENST00000525985.1 - 2 6022 c.5951G>A c.(5950-5952)gGa>gAa p.G1984E P58107 EPIPL_HUMAN epiplakin 1 1984 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GATCGTGTCTCCTGTGGCCGG 0.642000 9 61 0 0 1 0 0 PCDHA13 56136 broad.mit.edu 37 5 140262024 140262024 + Silent SNP G G A rs141467715 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:140262024G>A ENST00000289272.2 + 1 171 c.171G>A c.(169-171)gcG>gcA p.A57A PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.A57A|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGAGCTGGCGGAGCTGGTGC 0.612000 9 88 0 0 1 0 0 SLC33A1 9197 broad.mit.edu 37 3 155571322 155571322 + Missense_Mutation SNP C C A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:155571322C>A ENST00000392845.2 - 1 845 c.465G>T c.(463-465)atG>atT p.M155I SLC33A1_ENST00000359479.3_Missense_Mutation_p.M155I NM_004733.3 NP_004724.1 O00400 ACATN_HUMAN solute carrier family 33 (acetyl-CoA transporter), member 1 155 cell death|transmembrane transport endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 22 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) ATAAATAGATCATGAAGAGTC 0.468000 10 62 3.86212e-05 3.89339e-05 1 1 0 OSMR 9180 broad.mit.edu 37 5 38921764 38921764 + Silent SNP C C T rs61747090 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:38921764C>T ENST00000274276.3 + 12 2035 c.1633C>T c.(1633-1635)Ctg>Ttg p.L545L NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 545 Fibronectin type-III 3. cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) TGGATTCTCTCTGTCTTGGAA 0.428000 38 115 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22940896 22940896 + Silent SNP G G A rs79080989 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:22940896G>A ENST00000397104.3 - 5 1541 c.1542C>T c.(1540-1542)ttC>ttT p.F514F ZNF99_ENST00000596209.1_Silent_p.F605F zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TAAGGGCTGAGAAGTGGTTAA 0.378000 7 49 0 0 1 0 0 AHDC1 27245 broad.mit.edu 37 1 27875154 27875154 + Missense_Mutation SNP G G T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:27875154G>T ENST00000374011.2 - 6 4441 c.3473C>A c.(3472-3474)gCt>gAt p.A1158D AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.A1158D NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1158 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) CTCCGACACAGCCGTCTGCTG 0.582000 26 102 1.08312e-15 1.10441e-15 1 1 0 CD40 958 broad.mit.edu 37 20 44750538 44750538 + Splice_Site SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr20:44750538G>A ENST00000372285.3 + 2 202 c.e2+1 CD40_ENST00000372276.3_Splice_Site|CD40_ENST00000489304.1_Splice_Site NM_001250.4 NP_001241.1 P25942 TNR5_HUMAN CD40 molecule, TNF receptor superfamily member 5 B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly CD40 receptor complex|extracellular region enzyme binding|receptor activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Myeloproliferative disorder(115;0.0122) Simvastatin(DB00641) TGCCAGCCAGGTGAGATGCCA 0.478000 Immune Deficiency with Hyper-IgM 12 77 0 0 1 0 0 HBB 3043 broad.mit.edu 37 11 5247987 5247987 + Silent SNP G G A rs35811659 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:5247987G>A ENST00000335295.3 - 2 310 c.135C>T c.(133-135)tcC>tcT p.S45S NM_000518.4 NP_000509.1 P68871 HBB_HUMAN hemoglobin, beta 45 S -> C (in Mississippi). blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size haptoglobin-hemoglobin complex|hemoglobin complex heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1) 15 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) Iron Dextran(DB00893) GATCCCCAAAGGACTCAAAGA 0.527000 Sickle Cell Trait 10 75 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16259672 16259672 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:16259672C>T ENST00000205557.7 - 23 3143 c.3114G>A c.(3112-3114)cgG>cgA p.R1038R NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 1038 ABC transmembrane type-1 2. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CAATGGGTGTCCGCTCAAAGA 0.587000 9 67 0 0 1 0 0 SIK1 150094 broad.mit.edu 37 21 44841617 44841617 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr21:44841617G>A ENST00000270162.6 - 5 532 c.400C>T c.(400-402)Ctg>Ttg p.L134L NM_173354.3 NP_775490.2 P57059 SIK1_HUMAN salt-inducible kinase 1 134 Protein kinase. anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 ACGGCCGACAGGATTTGCCAG 0.562000 9 38 0 0 1 0 0 OR2J3 442186 broad.mit.edu 37 6 29079834 29079834 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:29079834C>T ENST00000377169.1 + 1 167 c.167C>T c.(166-168)tCc>tTc p.S56F NM_001005216.2 NP_001005216.2 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, member 3 56 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 TACCTGGACTCCCATCTGCAC 0.453000 50 248 0 0 1 0 0 HSPH1 10808 broad.mit.edu 37 13 31711477 31711477 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr13:31711477G>A ENST00000320027.5 - 18 2899 c.2555C>T c.(2554-2556)tCt>tTt p.S852F HSPH1_ENST00000380406.5_Missense_Mutation_p.S811F|HSPH1_ENST00000445273.2_Missense_Mutation_p.S854F|HSPH1_ENST00000429785.2_Missense_Mutation_p.S671F|HSPH1_ENST00000380405.4_Missense_Mutation_p.S808F NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 852 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding p.S852Y(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) CATATTAACAGAATTTTTCTC 0.308000 12 97 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53126799 53126799 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:53126799C>T ENST00000276480.7 - 7 702 c.19G>A c.(19-21)Gat>Aat p.D7N NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 7 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) AGCGTTTTATCTTCAGCCTCT 0.428000 28 93 0 0 1 0 0 SUCO 51430 broad.mit.edu 37 1 172501615 172501615 + Translation_Start_Site SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:172501615G>A ENST00000367723.3 + 1 127 c.3G>A c.(1-3)atG>atA p.M1I NM_016227.2 NP_057311.2 SUN domain containing ossification factor CCAATCAGATGAGAGGATTCT 0.498000 5 33 0 0 1 0 0 PARP12 64761 broad.mit.edu 37 7 139727077 139727077 + Splice_Site SNP A A C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:139727077A>C ENST00000263549.3 - 10 2500 c.1628_splice c.e10+1 p.W543_splice NM_022750.2 NP_073587.1 Q9H0J9 PAR12_HUMAN poly (ADP-ribose) polymerase family, member 12 543 PARP catalytic. nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) CCAACGCACCACTGGTAGACT 0.562000 4 92 0 0 1 0 0 TMC7 79905 broad.mit.edu 37 16 19068000 19068000 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:19068000C>T ENST00000421369.3 + 14 2236 c.1678C>T c.(1678-1680)Cct>Tct p.P560S TMC7_ENST00000304381.5_Missense_Mutation_p.P670S|TMC7_ENST00000569532.1_Missense_Mutation_p.P670S NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 670 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 CTTTGCAGTTCCTTTCTTCAT 0.587000 16 99 0 0 1 0 0 TMEM52B 120939 broad.mit.edu 37 12 10342589 10342589 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:10342589C>T ENST00000298530.3 + 4 920 c.342C>T c.(340-342)acC>acT p.T114T TMEM52B_ENST00000536952.1_Silent_p.T134T|TMEM52B_ENST00000381923.2_Silent_p.T134T NM_153022.2 NP_694567.1 transmembrane protein 52B CTTTGGACACCCTCCCAGGGT 0.587000 8 47 0 0 1 0 0 CLCA2 9635 broad.mit.edu 37 1 86920909 86920909 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:86920909C>T ENST00000370565.4 + 14 2693 c.2531C>T c.(2530-2532)tCc>tTc p.S844F NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 844 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) CCCCAAATTTCCACGAATGGA 0.403000 16 84 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 13357043 13357043 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:13357043C>T ENST00000276297.4 - 2 947 c.538G>A c.(538-540)Gag>Aag p.E180K DLC1_ENST00000511869.1_Missense_Mutation_p.E180K|DLC1_ENST00000316609.5_Missense_Mutation_p.E180K NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 180 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding p.E180K(2) NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 ACTTTTCTCTCCCCACTTTCT 0.388000 21 124 0 0 1 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94879518 94879518 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:94879518G>A ENST00000289495.5 + 8 2497 c.2281G>A c.(2281-2283)Gaa>Aaa p.E761K PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E761K|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E761K|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.E761K|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E783K|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E761K NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 761 Interacts with TGN38 (By similarity). cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) TCAGGCCTTGGAAAAGAAATA 0.373000 HNSCC(28;0.073) 10 65 0 0 1 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24975609 24975609 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:24975609G>A ENST00000289968.6 - 7 551 c.482C>T c.(481-483)tCc>tTc p.S161F ARHGAP17_ENST00000303665.5_Missense_Mutation_p.S161F|ARHGAP17_ENST00000441763.2_Missense_Mutation_p.S161F|ARHGAP17_ENST00000575975.1_5'UTR NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 161 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) GGTTCCTGAGGATTTGTGAGC 0.458000 20 106 0 0 1 0 0 MRPS27 23107 broad.mit.edu 37 5 71528350 71528350 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:71528350C>T ENST00000261413.5 - 7 550 c.511G>A c.(511-513)Gaa>Aaa p.E171K MRPS27_ENST00000515404.1_Missense_Mutation_p.E115K|MRPS27_ENST00000522562.1_5'UTR|MRPS27_ENST00000513900.1_Missense_Mutation_p.E185K|MRPS27_ENST00000457646.4_Missense_Mutation_p.E115K NM_015084.2 NP_055899.2 Q92552 RT27_HUMAN mitochondrial ribosomal protein S27 171 mitochondrion|ribosome breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.46e-53) TCAAAGGCTTCTTGCATCATG 0.373000 6 62 0 0 1 0 0 SAFB 6294 broad.mit.edu 37 19 5667130 5667130 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:5667130C>T ENST00000292123.5 + 18 2515 c.2408C>T c.(2407-2409)tCt>tTt p.S803F SAFB_ENST00000592224.1_Missense_Mutation_p.S802F|SAFB_ENST00000538656.1_Missense_Mutation_p.S645F|SAFB_ENST00000588852.1_Missense_Mutation_p.S803F|SAFB_ENST00000454510.1_Missense_Mutation_p.S734F|SAFB_ENST00000433404.1_Missense_Mutation_p.S633F NM_001201338.1|NM_001201339.1|NM_002967.3 NP_001188267.1|NP_001188268.1|NP_002958.2 Q15424 SAFB1_HUMAN scaffold attachment factor B 803 Arg-rich.|Gly-rich.|Interaction with SAFB2. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1) 23 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) GGCTATGGCTCTGACAAGAGG 0.677000 9 42 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69621256 69621256 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:69621256G>A ENST00000337103.4 + 8 2528 c.936G>A c.(934-936)agG>agA p.R312R C8orf34_ENST00000325233.3_Silent_p.R81R|C8orf34_ENST00000518698.1_Silent_p.R423R|C8orf34_ENST00000539993.1_Silent_p.R337R Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 337 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) TGGAAGAAAGGACAGAAGAGT 0.358000 3 29 0 0 1 0 0 OR2F1 26211 broad.mit.edu 37 7 143657345 143657345 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:143657345C>T ENST00000392899.1 + 1 319 c.282C>T c.(280-282)ttC>ttT p.F94F NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) CCATCCCATTCCAGAGCTGTG 0.517000 36 204 0 0 1 0 0 NKD1 85407 broad.mit.edu 37 16 50667452 50667452 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:50667452C>T ENST00000268459.3 + 10 1397 c.1173C>T c.(1171-1173)ctC>ctT p.L391L NM_033119.4 NP_149110.1 Q969G9 NKD1_HUMAN naked cuticle homolog 1 (Drosophila) 391 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2) 23 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) CGGCCCTCCTCCCCTCCCTAG 0.721000 3 18 0 0 1 0 0 TBX22 50945 broad.mit.edu 37 X 79281235 79281235 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:79281235C>T ENST00000442340.1 + 5 722 c.232C>T c.(232-234)Cgc>Tgc p.R78C TBX22_ENST00000373296.3_Missense_Mutation_p.R198C|TBX22_ENST00000373291.1_Missense_Mutation_p.R78C|TBX22_ENST00000373294.5_Missense_Mutation_p.R198C NM_001109878.1|NM_001109879.1 NP_001103348.1|NP_001103349.1 Q9Y458 TBX22_HUMAN T-box 22 198 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 CAGCTTTGATCGCATGAAACT 0.527000 7 23 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9058283 9058283 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:9058283C>T ENST00000397910.4 - 3 29366 c.29163G>A c.(29161-29163)gtG>gtA p.V9721V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9723 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TAGTTGTTTCCACAAAGCGAG 0.493000 5 30 0 0 1 0 0 RAC1 5879 broad.mit.edu 37 7 6426893 6426893 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:6426893C>T ENST00000348035.4 + 2 299 c.86C>T c.(85-87)cCt>cTt p.P29L RAC1_ENST00000356142.4_Missense_Mutation_p.P29L|RAC1_ENST00000488373.1_3'UTR NM_006908.4 NP_008839.2 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 29 actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) AATGCATTTCCTGGAGAATAT 0.353000 21 126 0 0 1 0 0 PSPH 5723 broad.mit.edu 37 7 56082721 56082721 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:56082721G>A ENST00000395471.3 - 7 1370 c.565C>T c.(565-567)Cct>Tct p.P189S PSPH_ENST00000459834.1_5'UTR|PSPH_ENST00000275605.3_Missense_Mutation_p.P189S P78330 SERB_HUMAN phosphoserine phosphatase 189 L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1) 11 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CATACAGCAGGAGGACAGGCT 0.294000 18 83 0 0 1 0 0 ZIM2 23619 broad.mit.edu 37 19 57286265 57286265 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:57286265C>T ENST00000391708.3 - 12 1917 c.1375G>A c.(1375-1377)Gac>Aac p.D459N ZIM2_ENST00000601070.1_Missense_Mutation_p.D459N|ZIM2_ENST00000599935.1_Missense_Mutation_p.D459N|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.D459N|ZIM2_ENST00000221722.5_Missense_Mutation_p.D459N NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 zinc finger, imprinted 2 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) CCAACGTAGTCATGTTTCCGC 0.468000 14 58 0 0 1 0 0 PHF7 51533 broad.mit.edu 37 3 52456844 52456844 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:52456844G>A ENST00000327906.3 + 10 1526 c.866G>A c.(865-867)aGa>aAa p.R289K PHF7_ENST00000347025.2_Missense_Mutation_p.R250K|PHF7_ENST00000478707.1_Missense_Mutation_p.R289K NM_016483.4 NP_057567.3 Q9BWX1 PHF7_HUMAN PHD finger protein 7 289 nucleus zinc ion binding breast(2)|large_intestine(4)|lung(3) 9 BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275) TCCTCTCTTAGATCTAACAGT 0.577000 38 171 0 0 1 0 0 STMN4 81551 broad.mit.edu 37 8 27098701 27098701 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:27098701G>A ENST00000350889.4 - 5 382 c.269C>T c.(268-270)tCc>tTc p.S90F STMN4_ENST00000522908.1_Missense_Mutation_p.S90F|STMN4_ENST00000519614.1_Missense_Mutation_p.S63F|STMN4_ENST00000519997.1_Missense_Mutation_p.S54F|STMN4_ENST00000523048.1_Missense_Mutation_p.S90F|STMN4_ENST00000265770.7_Missense_Mutation_p.S63F NM_030795.2 NP_110422.2 Q9H169 STMN4_HUMAN stathmin-like 4 63 intracellular signal transduction endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1) 11 Ovarian(32;0.00167) UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142) GACTTCAAAGGATTGGCCCGA 0.567000 29 117 0 0 1 0 0 ZKSCAN3 80317 broad.mit.edu 37 6 28327463 28327463 + Missense_Mutation SNP T T G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:28327463T>G ENST00000377255.3 + 3 397 c.100T>G c.(100-102)Ttt>Gtt p.F34V ZKSCAN3_ENST00000341464.5_Intron|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.F34V NM_001242894.1 NP_001229823.1 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 34 F -> L (in dbSNP:rs3857555). positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1) 21 AGAAGCCGGTTTTCCCAGTAG 0.597000 16 111 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79441589 79441589 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:79441589C>T ENST00000376718.3 - 5 691 c.568G>A c.(568-570)Gaa>Aaa p.E190K PRUNE2_ENST00000376713.3_Missense_Mutation_p.E190K|PRUNE2_ENST00000428286.1_5'UTR NM_015225.2 NP_056040.2 Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 190 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GAAAGAATTTCCTCCTGCTTC 0.433000 14 65 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117679018 117679018 + Missense_Mutation SNP A A G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:117679018A>G ENST00000368508.3 - 24 4001 c.3803T>C c.(3802-3804)aTt>aCt p.I1268T ROS1_ENST00000368507.3_Missense_Mutation_p.I1263T|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1268 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CCTATTGTGAATCTTCACCTC 0.313000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 10 29 0 0 1 0 0 DNM3 26052 broad.mit.edu 37 1 172001634 172001634 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:172001634C>T ENST00000358155.4 + 5 858 c.682C>T c.(682-684)Cgc>Tgc p.R228C DNM3_ENST00000367731.1_Missense_Mutation_p.R228C|DNM3_ENST00000367733.2_Missense_Mutation_p.R228C|DNM3_ENST00000520906.1_Missense_Mutation_p.R228C|DNM3_ENST00000355305.5_Missense_Mutation_p.R228C NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 228 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 GTTGCCTCTTCGCAGGGGTAA 0.393000 25 120 0 0 1 0 0 ADIPOQ 9370 broad.mit.edu 37 3 186572004 186572004 + Silent SNP A A G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:186572004A>G ENST00000412955.2 + 3 387 c.246A>G c.(244-246)gaA>gaG p.E82E ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000320741.2_Silent_p.E82E|ADIPOQ_ENST00000444204.2_Silent_p.E82E Q15848 ADIPO_HUMAN adiponectin, C1Q and collagen domain containing 82 Collagen-like. brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor collagen|endoplasmic reticulum|extracellular space cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2) 16 all_cancers(143;1.2e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.47e-19) GBM - Glioblastoma multiforme(93;0.0776) ACATCGGTGAAACCGGAGTAC 0.512000 9 61 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7640269 7640269 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:7640269C>T ENST00000396620.3 - 7 1920 c.1835G>A c.(1834-1836)gGa>gAa p.G612E CD163_ENST00000432237.2_Splice_Site_p.R579_splice|CD163_ENST00000359156.4_Splice_Site_p.R579_splice|CD163_ENST00000541972.1_Splice_Site_p.R567_splice Q86VB7 C163A_HUMAN CD163 molecule 579 SRCR 6. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 TTCTGTGTATCCTGGAAGGAG 0.488000 17 88 0 0 1 0 0 AKAP8 10270 broad.mit.edu 37 19 15484782 15484782 + Silent SNP C C T rs114906270 byFrequency TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:15484782C>T ENST00000269701.2 - 4 246 c.186G>A c.(184-186)aaG>aaA p.K62K NM_005858.3 NP_005849.1 O43823 AKAP8_HUMAN A kinase (PRKA) anchor protein 8 62 signal transduction nuclear matrix breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2) 26 CATCATTGGCCTTGGCGGCCT 0.607000 6 34 0 0 1 0 0 FOXJ1 2302 broad.mit.edu 37 17 74133668 74133668 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:74133668C>T ENST00000322957.6 - 3 1386 c.1032G>A c.(1030-1032)gtG>gtA p.V344V NM_001454.3 NP_001445.2 Q92949 FOXJ1_HUMAN forkhead box J1 344 actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding large_intestine(1)|liver(1)|pancreas(1)|skin(1) 4 LUSC - Lung squamous cell carcinoma(166;0.187) TGGTGAGGTCCACGTCCACGT 0.697000 3 14 0 0 1 0 0 FGD6 55785 broad.mit.edu 37 12 95604014 95604014 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:95604014G>A ENST00000343958.4 - 2 1269 c.1046C>T c.(1045-1047)tCc>tTc p.S349F FGD6_ENST00000549499.1_Missense_Mutation_p.S349F|FGD6_ENST00000546711.1_Missense_Mutation_p.S349F NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 349 Poly-Ser. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 AGTAAGACAGGAAGAGCTACT 0.403000 17 101 0 0 1 0 0 TRIM45 80263 broad.mit.edu 37 1 117660782 117660782 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:117660782G>A ENST00000256649.4 - 2 1622 c.1096C>T c.(1096-1098)Cct>Tct p.P366S TRIM45_ENST00000369461.3_Missense_Mutation_p.P309S|TRIM45_ENST00000369464.3_Missense_Mutation_p.P366S NM_025188.3 NP_079464.2 Q9H8W5 TRI45_HUMAN tripartite motif containing 45 366 cytoplasm|nucleus zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1) 23 Lung SC(450;0.225) all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389) Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187) TTTACTCCAGGACGGGTGCTA 0.488000 38 109 0 0 1 0 0 SLC2A3 6515 broad.mit.edu 37 12 8083141 8083141 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:8083141G>A ENST00000075120.7 - 5 848 c.608C>T c.(607-609)cCa>cTa p.P203L NM_006931.2 NP_008862.1 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose transporter), member 3 203 carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Kidney(36;0.0866) AGGGCAAAATGGAAGGGCTGC 0.433000 29 121 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117304901 117304901 + Missense_Mutation SNP C C T rs146947665 byFrequency TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:117304901C>T ENST00000003084.6 + 25 4255 c.4123C>T c.(4123-4125)Cat>Tat p.H1375Y CFTR_ENST00000454343.1_Missense_Mutation_p.H1314Y NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 1375 ABC transporter 2. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) ACCCAGTGCTCATTTGGATCC 0.458000 Cystic Fibrosis 34 181 0 0 1 0 0 LINC00477 144360 broad.mit.edu 37 12 24736351 24736351 + RNA SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:24736351G>A ENST00000483544.1 - 0 751 NR_029451.2 GGGGCACGTAGAACCTGAGAC 0.557000 6 22 0 0 1 0 0 NPHP1 4867 broad.mit.edu 37 2 110919263 110919263 + Nonsense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:110919263G>A ENST00000316534.4 - 10 1112 c.1039C>T c.(1039-1041)Cga>Tga p.R347* NPHP1_ENST00000445609.2_Nonsense_Mutation_p.R291*|NPHP1_ENST00000417665.1_Nonsense_Mutation_p.R290*|NPHP1_ENST00000393272.3_Nonsense_Mutation_p.R346*|NPHP1_ENST00000355301.4_Nonsense_Mutation_p.R228* O15259 NPHP1_HUMAN nephronophthisis 1 (juvenile) 346 actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2) 24 TAATTTGCTCGAAATTGATTC 0.353000 3 33 0 0 1 0 0 OR51S1 119692 broad.mit.edu 37 11 4869853 4869853 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:4869853C>T ENST00000322101.2 - 1 661 c.586G>A c.(586-588)Gcc>Acc p.A196T MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TCTGGGCAGGCCAAACGAGCC 0.542000 25 98 0 0 1 0 0 ZNF418 147686 broad.mit.edu 37 19 58438694 58438694 + Silent SNP A A T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:58438694A>T ENST00000396147.1 - 4 1146 c.855T>A c.(853-855)ccT>ccA p.P285P ZNF418_ENST00000595830.1_Silent_p.P285P|ZNF418_ENST00000599852.1_Silent_p.P200P|ZNF418_ENST00000425570.3_Silent_p.P306P|ZNF418_ENST00000600989.1_Intron NM_133460.1 NP_597717.1 Q8TF45 ZN418_HUMAN zinc finger protein 418 285 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P285P(1) cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) CACATTCATAAGGTCTTTTCC 0.433000 21 186 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118537050 118537050 + Nonsense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:118537050C>T ENST00000336338.5 - 35 5222 c.5157G>A c.(5155-5157)tgG>tgA p.W1719* NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1719 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GAAATGTTTCCCATGACCTTG 0.418000 10 102 0 0 1 0 0 KRTAP10-3 386682 broad.mit.edu 37 21 45978286 45978286 + Missense_Mutation SNP A A T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr21:45978286A>T ENST00000391620.1 - 1 357 c.313T>A c.(313-315)Tgc>Agc p.C105S TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron NM_198696.2 NP_941969.2 P60369 KR103_HUMAN keratin associated protein 10-3 105 18 X 5 AA repeats of C-C-X(3). keratin filament kidney(1)|lung(4)|prostate(1)|skin(1) 7 actggcttgcagcagacaggc 0.647000 24 295 0 0 1 0 0 ACSM4 341392 broad.mit.edu 37 12 7470725 7470725 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:7470725G>A ENST00000399422.4 + 5 916 c.868G>A c.(868-870)Gcc>Acc p.A290T NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 290 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 GCTGTGTGGAGCCTGTGTTTT 0.478000 12 82 0 0 1 0 0 FAAH2 158584 broad.mit.edu 37 X 57358037 57358037 + Missense_Mutation SNP C C T rs146401083 byFrequency TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:57358037C>T ENST00000374900.4 + 4 539 c.419C>T c.(418-420)cCc>cTc p.P140L NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 140 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 TTAGGAATGCCCAATTCTTCT 0.423000 HNSCC(52;0.14) 13 31 0 0 1 0 0 SLC44A2 57153 broad.mit.edu 37 19 10753125 10753125 + Missense_Mutation SNP T T C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:10753125T>C ENST00000586078.1 + 21 2121 c.2012T>C c.(2011-2013)tTc>tCc p.F671S SLC44A2_ENST00000335757.5_Missense_Mutation_p.F671S|SLC44A2_ENST00000407327.4_Missense_Mutation_p.F669S NM_020428.3 NP_065161.3 Q8IWA5 CTL2_HUMAN solute carrier family 44 (choline transporter), member 2 671 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) TTCCTCTGCTTCTGTGAGTGA 0.572000 6 54 0 0 1 0 0 TMCO5A 145942 broad.mit.edu 37 15 38233932 38233932 + Splice_Site SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr15:38233932G>A ENST00000558158.1 + 8 658 c.e8+1 TMCO5A_ENST00000559502.1_Splice_Site|TMCO5A_ENST00000540944.1_Splice_Site|TMCO5A_ENST00000319669.4_Splice_Site Q8N6Q1 TMC5A_HUMAN transmembrane and coiled-coil domains 5A integral to membrane central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 15 CTACATAAAGGTAGAGCTTCT 0.363000 4 73 0 0 1 0 0 GATAD2B 57459 broad.mit.edu 37 1 153800796 153800796 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:153800796G>A ENST00000368655.4 - 2 271 c.28C>T c.(28-30)Cgc>Tgc p.R10C NM_020699.2 NP_065750.1 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 10 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 38 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) AGATTCAAGCGAAGAGCATCT 0.433000 22 105 0 0 1 0 0 C8orf4 56892 broad.mit.edu 37 8 40011065 40011065 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:40011065G>A ENST00000315792.3 + 1 77 c.14G>A c.(13-15)cGa>cAa p.R5Q NM_020130.4 NP_064515.1 Q9NR00 CH004_HUMAN chromosome 8 open reading frame 4 5 apoptosis breast(1)|large_intestine(1)|ovary(1) 3 Ovarian(28;0.0173) all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141) LUSC - Lung squamous cell carcinoma(45;0.000149) KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111) AAAGCAAAGCGAAGCCACCAA 0.517000 19 59 0 0 1 0 0 HBEGF 1839 broad.mit.edu 37 5 139725585 139725585 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:139725585G>A ENST00000230990.6 - 2 433 c.131C>T c.(130-132)aCt>aTt p.T44I HBEGF_ENST00000507104.1_Missense_Mutation_p.T44I NM_001945.2 NP_001936.1 Q99075 HBEGF_HUMAN heparin-binding EGF-like growth factor 44 epidermal growth factor receptor signaling pathway|muscle organ development|positive regulation of protein kinase B signaling cascade|positive regulation of wound healing cell surface|extracellular space|integral to plasma membrane epidermal growth factor receptor binding|eukaryotic cell surface binding|growth factor activity|heparin binding|receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(3)|stomach(1) 7 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGGATACAGTGGGAGGGTC 0.642000 OREG0016844 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 41 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20790133 20790133 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:20790133G>A ENST00000359062.3 + 9 2141 c.2101G>A c.(2101-2103)Gaa>Aaa p.E701K PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 701 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TGATTTAGTGGAAAATATAGG 0.348000 7 39 0 0 1 0 0 PRSS16 10279 broad.mit.edu 37 6 27222476 27222476 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:27222476C>T ENST00000230582.3 + 10 1170 c.1155C>T c.(1153-1155)gtC>gtT p.V385V PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Silent_p.V128V NM_005865.3 NP_005856.1 Q9NQE7 TSSP_HUMAN protease, serine, 16 (thymus) 385 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 ACACAGATGTCACCTGTGAGA 0.507000 37 172 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9072326 9072326 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:9072326G>A ENST00000397910.4 - 3 15323 c.15120C>T c.(15118-15120)ccC>ccT p.P5040P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5042 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAAAGGAAGAGGGGGAGCTGG 0.468000 8 29 0 0 1 0 0 MCM4 4173 broad.mit.edu 37 8 48883249 48883249 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:48883249C>T ENST00000262105.2 + 11 1822 c.1613C>T c.(1612-1614)tCc>tTc p.S538F MCM4_ENST00000518680.1_3'UTR|MCM4_ENST00000523944.1_Missense_Mutation_p.S538F NM_005914.3 NP_005905.2 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 538 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) GGGAAGGGCTCCAGTGCAGTT 0.582000 7 57 0 0 1 0 0 ENOX2 10495 broad.mit.edu 37 X 129771314 129771314 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:129771314C>T ENST00000338144.3 - 12 1704 c.1287G>A c.(1285-1287)cgG>cgA p.R429R ENOX2_ENST00000370935.1_Silent_p.R400R|ENOX2_ENST00000370927.1_Silent_p.R429R|ENOX2_ENST00000394363.1_Silent_p.R400R NM_182314.1 NP_872114.1 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 429 cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3) 33 CTACTTCATTCCGGTAGGCAT 0.448000 38 84 0 0 1 0 0 FAM26E 254228 broad.mit.edu 37 6 116833380 116833380 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:116833380C>T ENST00000368599.3 + 1 572 c.521C>T c.(520-522)tCc>tTc p.S174F TRAPPC3L_ENST00000356128.4_5'UTR|TRAPPC3L_ENST00000368602.3_Intron NM_153711.2 NP_714922.1 Q8N5C1 FA26E_HUMAN family with sequence similarity 26, member E 174 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212) CTGAAACTCTCCCTTCAGGCC 0.468000 16 73 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32808805 32808805 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr13:32808805C>T ENST00000380250.3 + 42 6118 c.5622C>T c.(5620-5622)ttC>ttT p.F1874F NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1874 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TCCAGATATTCCGGGCCCTCA 0.517000 8 52 0 0 1 0 0 OR2W3 343171 broad.mit.edu 37 1 248059501 248059501 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:248059501G>A ENST00000537741.1 + 3 870 c.613G>A c.(613-615)Ggt>Agt p.G205S OR2W3_ENST00000360358.3_Missense_Mutation_p.G205S Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CCTGGCGGTGGGTGTTGTGCT 0.577000 53 174 0 0 1 0 0 ZNF274 10782 broad.mit.edu 37 19 58723654 58723654 + Silent SNP T T C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:58723654T>C ENST00000326804.4 + 9 1563 c.1104T>C c.(1102-1104)gaT>gaC p.D368D ZNF274_ENST00000424679.2_Silent_p.D263D|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Silent_p.D336D NM_133502.1 NP_598009.1 Q96GC6 ZN274_HUMAN zinc finger protein 274 369 viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1) 21 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) CATTAGAAGATACCTTGCAGG 0.483000 9 38 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193130071 193130071 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:193130071C>T ENST00000342695.4 - 27 3426 c.3104G>A c.(3103-3105)aGt>aAt p.S1035N ATP13A4_ENST00000400270.2_Missense_Mutation_p.S51N|ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000392443.3_Missense_Mutation_p.S1016N NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 1035 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) GTTCTCAAAACTTGTGAAGGT 0.398000 40 235 0 0 1 0 0 RBMXL1 494115 broad.mit.edu 37 1 89449026 89449026 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:89449026G>A ENST00000399794.2 - 3 1199 c.484C>T c.(484-486)Cct>Tct p.P162S CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.P162S|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron NM_001162536.2 NP_001156008.1 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 162 nucleotide binding|RNA binding GATCTCTTAGGAGAAGGACCC 0.498000 29 121 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65944316 65944316 + Missense_Mutation SNP A A G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:65944316A>G ENST00000321892.4 + 25 8259 c.8198A>G c.(8197-8199)aAt>aGt p.N2733S BPTF_ENST00000335221.5_Missense_Mutation_p.N2590S|BPTF_ENST00000306378.6_Missense_Mutation_p.N2607S|BPTF_ENST00000424123.3_Missense_Mutation_p.N2451S Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2733 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) AGCAAGCAGAATGCCACTAAG 0.443000 5 63 0 0 1 0 0 ZNF311 282890 broad.mit.edu 37 6 28971362 28971362 + Silent SNP A A G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:28971362A>G ENST00000377179.3 - 3 531 c.19T>C c.(19-21)Ttg>Ctg p.L7L ZNF311_ENST00000483450.1_5'UTR NM_001010877.2 NP_001010877.2 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 7 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2) 28 CTCTCATCCAACAGCACAACC 0.483000 27 161 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54758680 54758680 + Silent SNP T T G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:54758680T>G ENST00000450632.1 - 6 1223 c.1146A>C c.(1144-1146)ggA>ggC p.G382G LILRB5_ENST00000449561.2_Silent_p.G391G|LILRB5_ENST00000345866.6_Silent_p.G291G|LILRB5_ENST00000316219.5_Silent_p.G391G O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 391 Ig-like C2-type 4. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ATCGGTAGGTTCCACCCTGGG 0.587000 5 77 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128227 152128227 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:152128227G>A ENST00000316073.3 - 3 1412 c.1348C>T c.(1348-1350)Cac>Tac p.H450Y NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 450 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TGACCATAGTGGGAATTCTGG 0.537000 220 995 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183574987 183574987 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr4:183574987G>A ENST00000511685.1 + 6 1175 c.1052G>A c.(1051-1053)gGa>gAa p.G351E TENM3_ENST00000406950.2_Missense_Mutation_p.G351E teneurin transmembrane protein 3 TTTGAGAATGGAAAAGTGAAT 0.398000 14 43 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65415770 65415770 + Missense_Mutation SNP G G T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:65415770G>T ENST00000330909.8 - 12 1591 c.1592C>A c.(1591-1593)aCa>aAa p.T531K MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Missense_Mutation_p.T531K|MAGI1_ENST00000483466.1_Missense_Mutation_p.T531K|MAGI1_ENST00000497477.2_Missense_Mutation_p.T531K NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 531 PDZ 2. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TTGAGCATGTGTGTGTCCCAA 0.478000 13 62 2.23348e-06 2.25889e-06 1 1 0 COL6A3 1293 broad.mit.edu 37 2 238287818 238287818 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:238287818G>A ENST00000295550.4 - 6 2410 c.1958C>T c.(1957-1959)aCc>aTc p.T653I COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392003.2_Missense_Mutation_p.T246I|COL6A3_ENST00000353578.4_Missense_Mutation_p.T447I|COL6A3_ENST00000392004.3_Missense_Mutation_p.T447I|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.T452I|COL6A3_ENST00000409809.1_Missense_Mutation_p.T447I NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 653 Nonhelical region.|VWFA 4. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AGGGAAATTGGTTTTTCCAAC 0.378000 4 69 0 0 1 0 0 SAMHD1 25939 broad.mit.edu 37 20 35579933 35579933 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr20:35579933G>A ENST00000262878.4 - 1 313 c.114C>T c.(112-114)ctC>ctT p.L38L SAMHD1_ENST00000373694.5_5'UTR NM_015474.3 NP_056289.2 Q9Y3Z3 SAMH1_HUMAN SAM domain and HD domain 1 38 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) AGTCGGGATGGAGTTCCAGGC 0.632000 52 276 0 0 1 0 0 CERS1 10715 broad.mit.edu 37 19 18995024 18995024 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:18995024G>A ENST00000427170.2 - 3 533 c.462C>T c.(460-462)ctC>ctT p.L154L CERS1_ENST00000429504.2_Silent_p.L154L|CERS1_ENST00000542296.2_Silent_p.L56L|GDF1_ENST00000247005.6_5'UTR NM_001492.4|NM_021267.3 NP_001483.3|NP_067090.1 P27544 CERS1_HUMAN ceramide synthase 1 154 TLC. ceramide biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|microsome sphingosine N-acyltransferase activity endometrium(3)|lung(2) 5 AGCTTCCCTGGAGCAGGTAGG 0.607000 5 22 0 0 1 0 0 PDE10A 10846 broad.mit.edu 37 6 165846588 165846588 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:165846588C>T ENST00000366882.1 - 8 691 c.537G>A c.(535-537)ctG>ctA p.L179L PDE10A_ENST00000539869.2_Silent_p.L189L|PDE10A_ENST00000354448.4_Silent_p.L179L Q9Y233 PDE10_HUMAN phosphodiesterase 10A 179 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) TCCCTGATTCCAGTCCAGTAC 0.393000 8 42 0 0 1 0 0 ACTL6B 51412 broad.mit.edu 37 7 100244204 100244204 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:100244204G>A ENST00000160382.5 - 12 1189 c.1083C>T c.(1081-1083)ctC>ctT p.L361L NM_016188.4 NP_057272.1 O94805 ACL6B_HUMAN actin-like 6B 361 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GCTCTCGATTGAGCCTGTCAG 0.632000 11 116 0 0 1 0 0 FAM160B2 64760 broad.mit.edu 37 8 21955042 21955042 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:21955042C>T ENST00000289921.7 + 4 359 c.313C>T c.(313-315)Cgg>Tgg p.R105W NM_022749.5 NP_073586.5 Q86V87 F16B2_HUMAN family with sequence similarity 160, member B2 105 endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1) 9 CCCAGGCATGCGGCAGCAGGT 0.672000 3 19 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57187663 57187663 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:57187663G>A ENST00000331162.4 - 5 1729 c.1459C>T c.(1459-1461)Cat>Tat p.H487Y NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 487 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) TCTCCAGTATGAATTCTCTTA 0.398000 11 70 0 0 1 0 0 CPPED1 55313 broad.mit.edu 37 16 12798721 12798721 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:12798721G>A ENST00000381774.4 - 3 715 c.475C>T c.(475-477)Ctg>Ttg p.L159L CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron NM_018340.2 NP_060810.2 Q9BRF8 CPPED_HUMAN calcineurin-like phosphoesterase domain containing 1 159 hydrolase activity|metal ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1) 18 ACCAGGAACAGGACGCCCCCG 0.617000 8 73 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1791840 1791840 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:1791840G>A ENST00000539485.1 - 20 2474 c.2241C>T c.(2239-2241)atC>atT p.I747I ATP8B3_ENST00000525591.1_Silent_p.I700I|ATP8B3_ENST00000310127.6_Silent_p.I737I O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 737 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTCTGTCCTCGATGGCTGTGG 0.627000 10 37 0 0 1 0 0 SAMD11 148398 broad.mit.edu 37 1 879126 879126 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:879126G>A ENST00000342066.3 + 13 1821 c.1738G>A c.(1738-1740)Gag>Aag p.E580K NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 580 SAM. nucleus breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) ACTGCTGACGGAGGAGCACCT 0.672000 9 37 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25419962 25419962 + RNA SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr15:25419962C>T ENST00000549301.1 + 0 697 SNHG14_ENST00000441592.2_RNA ttcagcaggtccctccgtttg 0.488000 13 21 0 0 1 0 0 CLEC4M 10332 broad.mit.edu 37 19 7833751 7833751 + Missense_Mutation SNP A A T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:7833751A>T ENST00000327325.5 + 7 1195 c.1077A>T c.(1075-1077)gaA>gaT p.E359D CLEC4M_ENST00000596707.1_Missense_Mutation_p.E292D|CLEC4M_ENST00000334806.5_Missense_Mutation_p.E308D|CLEC4M_ENST00000394122.2_Missense_Mutation_p.E347D|CLEC4M_ENST00000357361.2_Missense_Mutation_p.T322S|CLEC4M_ENST00000595496.1_Missense_Mutation_p.E223D|CLEC4M_ENST00000248228.4_Missense_Mutation_p.E337D|CLEC4M_ENST00000596363.1_Missense_Mutation_p.T294S|CLEC4M_ENST00000597522.1_Missense_Mutation_p.T230S|CLEC4M_ENST00000359059.5_Missense_Mutation_p.E292D NM_001144909.1|NM_014257.4 NP_001138381.1|NP_055072.3 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M 359 C-type lectin. cell-cell recognition|endocytosis|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 plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 ACAGTGGAGAACCCAACAATA 0.507000 33 110 0 0 1 0 0 UGT1A8 54576 broad.mit.edu 37 2 234526431 234526431 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:234526431G>A ENST00000373450.4 + 1 141 c.78G>A c.(76-78)ggG>ggA p.G26G NM_019076.4 NP_061949.3 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008) CTGAGGCAGGGAAGCTGCTGG 0.582000 17 115 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76435269 76435269 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:76435269C>T ENST00000389840.5 - 73 11790 c.11666G>A c.(11665-11667)gGa>gAa p.G3889E DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.G3898E dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) ATGGAGTTTTCCATTGTCTAT 0.458000 10 25 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138640956 138640956 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:138640956C>T ENST00000251691.4 + 28 4757 c.4591C>T c.(4591-4593)Cac>Tac p.H1531Y NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 1531 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) CAATTTCAAGCACGCTATTGG 0.498000 10 69 0 0 1 0 0 KLHL3 26249 broad.mit.edu 37 5 137045491 137045491 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:137045491G>A ENST00000508657.1 - 3 807 c.93C>T c.(91-93)gcC>gcT p.A31A KLHL3_ENST00000309755.4_Silent_p.A63A|KLHL3_ENST00000394937.3_Silent_p.A63A NM_001257194.1 NP_001244123.1 Q9UH77 KLHL3_HUMAN kelch-like family member 3 63 cytoplasm|cytoskeleton actin binding|structural molecule activity breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1) 21 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) CCACACGGTGGGCTTCTATCT 0.547000 16 122 0 0 1 0 0 BCAS3 54828 broad.mit.edu 37 17 59067406 59067406 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:59067406C>T ENST00000589222.1 + 15 1364 c.1296C>T c.(1294-1296)ttC>ttT p.F432F BCAS3_ENST00000588462.1_Silent_p.F432F|BCAS3_ENST00000585744.1_Silent_p.F203F|BCAS3_ENST00000408905.3_Silent_p.F432F|BCAS3_ENST00000390652.5_Silent_p.F432F|BCAS3_ENST00000407086.3_Silent_p.F432F|BCAS3_ENST00000588874.1_Silent_p.F203F Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 432 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) CCCACGTTTTCCCCATCAACC 0.493000 20 73 0 0 1 0 0 ZNF10 7556 broad.mit.edu 37 12 133728428 133728428 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:133728428G>A ENST00000248211.6 + 4 416 c.194G>A c.(193-195)cGg>cAg p.R65Q ZNF10_ENST00000426665.2_Missense_Mutation_p.R65Q|CTD-2140B24.4_ENST00000540096.2_Missense_Mutation_p.R65Q|ZNF268_ENST00000416488.1_Missense_Mutation_p.R65Q|ZNF10_ENST00000402932.2_Missense_Mutation_p.R65Q NM_015394.4 NP_056209.2 P21506 ZNF10_HUMAN zinc finger protein 10 65 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) GTGATCCTCCGGTTGGAGAAG 0.517000 5 62 0 0 1 0 0 RBM22 55696 broad.mit.edu 37 5 150071431 150071431 + Missense_Mutation SNP T T C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:150071431T>C ENST00000199814.4 - 11 1266 c.1145A>G c.(1144-1146)cAc>cGc p.H382R RBM22_ENST00000540000.1_Missense_Mutation_p.H333R|RBM22_ENST00000447771.2_Missense_Mutation_p.H333R NM_018047.2 NP_060517.1 Q9NW64 RBM22_HUMAN RNA binding motif protein 22 382 Pro-rich. protein import into nucleus, translocation catalytic step 2 spliceosome|cytoplasm calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1) 17 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTGGAACATGTGTGGCCCAAA 0.502000 7 65 0 0 1 0 0 AMFR 267 broad.mit.edu 37 16 56403215 56403215 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:56403215G>A ENST00000290649.5 - 11 1615 c.1405C>T c.(1405-1407)Ccc>Tcc p.P469S NM_001144.5 NP_001135.3 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor, E3 ubiquitin protein ligase 469 CUE. endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 GGAACCTGGGGAAACATCTCT 0.443000 5 47 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130293212 130293212 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:130293212C>T ENST00000358511.6 + 7 3421 c.3390C>T c.(3388-3390)atC>atT p.I1130I COL6A6_ENST00000453409.2_Silent_p.I1130I NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1130 Nonhelical region.|VWFA 6. axon guidance|cell adhesion collagen p.I1130I(1) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 ACAGAGGTATCGACATCTACT 0.552000 14 63 0 0 1 0 0 OR2G3 81469 broad.mit.edu 37 1 247769160 247769160 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:247769160G>A ENST00000320002.2 + 1 305 c.273G>A c.(271-273)acG>acA p.T91T RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CAAAGAAGACGATCACTTACG 0.463000 86 282 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 53908365 53908365 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr15:53908365G>A ENST00000396328.1 - 15 2277 c.2038C>T c.(2038-2040)Cat>Tat p.H680Y WDR72_ENST00000557913.1_Missense_Mutation_p.H677Y|WDR72_ENST00000360509.5_Missense_Mutation_p.H680Y|WDR72_ENST00000559418.1_Missense_Mutation_p.H690Y NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 680 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) AGAAGAATATGAAAGCCAACG 0.388000 7 55 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30954911 30954911 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:30954911C>T ENST00000376296.3 + 2 1200 c.959C>T c.(958-960)tCc>tTc p.S320F MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 320 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 AACTCTGACTCCAGCACAACC 0.607000 22 373 0 0 1 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40850806 40850806 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:40850806C>T ENST00000264638.4 + 24 4250 c.4033C>T c.(4033-4035)Cct>Tct p.P1345S CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 1345 axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) GGTCCCCACCCCTACAGCAGC 0.652000 5 77 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78350124 78350124 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:78350124C>T ENST00000582970.1 + 52 13352 c.13209C>T c.(13207-13209)ttC>ttT p.F4403F RNF213_ENST00000336301.6_Silent_p.F2476F|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.F4452F|CTD-2047H16.4_ENST00000575034.1_RNA NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TGAGCAAATTCATTGGCGAAT 0.428000 12 163 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 95892047 95892047 + Missense_Mutation SNP C C G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:95892047C>G ENST00000260766.3 + 3 1957 c.1323C>G c.(1321-1323)tgC>tgG p.C441W PLCE1_ENST00000371385.3_Missense_Mutation_p.C133W|PLCE1_ENST00000371380.2_Missense_Mutation_p.C441W|PLCE1_ENST00000371375.1_Missense_Mutation_p.C133W NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 441 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) TTGGTCCATGCTTAAAGCAAT 0.488000 24 121 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37740180 37740180 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:37740180C>T ENST00000539465.1 + 15 2248 c.1655C>T c.(1654-1656)tCa>tTa p.S552L FRMPD1_ENST00000541302.1_Missense_Mutation_p.S421L|FRMPD1_ENST00000536622.1_Missense_Mutation_p.S374L|FRMPD1_ENST00000377765.3_Missense_Mutation_p.S552L|RP11-613M10.9_ENST00000540557.1_Intron Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 552 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) CCCTGCAGATCACTCATAAAG 0.627000 12 53 0 0 1 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217107 150217107 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:150217107G>A ENST00000313543.4 + 2 202 c.45G>A c.(43-45)ggG>ggA p.G15G NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 15 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTCTGGTAGGGAAAACTGGAA 0.498000 13 73 0 0 1 0 0 HINT3 135114 broad.mit.edu 37 6 126296103 126296103 + Missense_Mutation SNP C C T rs143717330 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:126296103C>T ENST00000229633.5 + 4 697 c.500C>T c.(499-501)tCc>tTc p.S167F NM_138571.4 NP_612638.3 Q9NQE9 HINT3_HUMAN histidine triad nucleotide binding protein 3 167 mitochondrion|nucleolus hydrolase activity endometrium(1)|large_intestine(1)|lung(1)|stomach(1) 4 UCEC - Uterine corpus endometrioid carcinoma (4;0.153)|GBM - Glioblastoma multiforme(226;0.0321) AGAGTCAATTCCTATTGGTTT 0.373000 13 42 0 0 1 0 0 ZBTB38 253461 broad.mit.edu 37 3 141162981 141162981 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:141162981C>T ENST00000514251.1 + 4 2030 c.1751C>T c.(1750-1752)tCt>tTt p.S584F ZBTB38_ENST00000321464.5_Missense_Mutation_p.S585F|ZBTB38_ENST00000441582.2_Missense_Mutation_p.S584F Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 584 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 41 TACCGAAATTCTTCCTATGAA 0.418000 17 82 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158656289 158656289 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:158656289C>T ENST00000368148.3 - 1 199 c.19G>A c.(19-21)Gaa>Aaa p.E7K SPTA1_ENST00000368147.3_Missense_Mutation_p.E7K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 7 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTTACGGTTTCCTTTGGAAAT 0.333000 12 71 0 0 1 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217394 150217394 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:150217394C>T ENST00000313543.4 + 2 489 c.332C>T c.(331-333)aCc>aTc p.T111I NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 111 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAGCAGAAAACCGTTGCATTG 0.537000 22 60 0 0 1 0 0 NPY1R 4886 broad.mit.edu 37 4 164247398 164247398 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr4:164247398C>T ENST00000296533.2 - 2 840 c.309G>A c.(307-309)atG>atA p.M103I NPY1R_ENST00000509586.1_Intron NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 103 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CCCAGTGGTCCATTAATGTGT 0.423000 15 41 0 0 1 0 0 RFX4 5992 broad.mit.edu 37 12 107141298 107141298 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:107141298C>T ENST00000392842.1 + 16 2131 c.1717C>T c.(1717-1719)Ccc>Tcc p.P573S RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.P582S|RFX4_ENST00000229387.5_Missense_Mutation_p.P479S NM_213594.2 NP_998759.1 Q33E94 RFX4_HUMAN regulatory factor X, 4 (influences HLA class II expression) 573 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 CCAACAGCTGCCCTGTATGAG 0.512000 22 98 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 55924003 55924003 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:55924003C>T ENST00000244728.5 - 29 3043 c.2646G>A c.(2644-2646)ggG>ggA p.G882G COL21A1_ENST00000370808.2_Silent_p.G248G|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Silent_p.G879G|COL21A1_ENST00000535941.1_Silent_p.G882G NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 882 Collagen-like 6. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) GATACCCAAACCCTTGGCTCC 0.443000 10 68 0 0 1 0 0 ZBTB18 10472 broad.mit.edu 37 1 244218222 244218222 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:244218222C>T ENST00000358704.4 + 2 1295 c.1146C>T c.(1144-1146)ccC>ccT p.P382P NM_001278196.1|NM_006352.4|NM_205768.2 NP_001265125.1|NP_006343.2|NP_991331.1 zinc finger and BTB domain containing 18 TCATGTGCCCCCTGTGCAACA 0.652000 15 73 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10467460 10467460 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:10467460C>T ENST00000382483.3 - 4 4371 c.4148G>A c.(4147-4149)gGa>gAa p.G1383E NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1383 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TTGCAGTCCTCCTTCTGGCCC 0.527000 66 318 0 0 1 0 0 PHACTR2 9749 broad.mit.edu 37 6 144086473 144086473 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:144086473G>A ENST00000427704.2 + 6 867 c.737G>A c.(736-738)cGt>cAt p.R246H PHACTR2_ENST00000440869.2_Missense_Mutation_p.R257H|PHACTR2_ENST00000367584.4_Missense_Mutation_p.R234H|PHACTR2_ENST00000305766.6_Missense_Mutation_p.R166H|PHACTR2_ENST00000367582.3_Missense_Mutation_p.R177H NM_001100166.1|NM_014721.2 NP_001093636.1|NP_055536.2 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 246 actin binding|protein phosphatase inhibitor activity NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) ACCTCATCTCGTCCCAAAGCT 0.468000 12 116 0 0 1 0 0 TEK 7010 broad.mit.edu 37 9 27192514 27192514 + Missense_Mutation SNP A A T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:27192514A>T ENST00000380036.4 + 11 1959 c.1517A>T c.(1516-1518)tAt>tTt p.Y506F TEK_ENST00000519097.1_Missense_Mutation_p.Y359F|TEK_ENST00000406359.4_Missense_Mutation_p.Y463F NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 506 Fibronectin type-III 1. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) ACACTCAACTATTTGGAACCT 0.468000 25 89 0 0 1 0 0 C1orf131 128061 broad.mit.edu 37 1 231362769 231362769 + Nonsense_Mutation SNP C C A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:231362769C>A ENST00000318906.2 - 4 584 c.556G>T c.(556-558)Gga>Tga p.G186* C1orf131_ENST00000366651.3_Nonsense_Mutation_p.G185*|C1orf131_ENST00000366649.2_Nonsense_Mutation_p.G186* Q8NDD1 CA131_HUMAN chromosome 1 open reading frame 131 186 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 8 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) CTCTCCTTTCCTTTTCCATAA 0.473000 19 80 9.04412e-07 9.15441e-07 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168104735 168104735 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:168104735C>T ENST00000409195.1 + 9 6922 c.6833C>T c.(6832-6834)cCt>cTt p.P2278L XIRP2_ENST00000295237.9_Missense_Mutation_p.P2278L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2056L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2103 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AACTTTAACCCTGAGAATAAT 0.408000 9 66 0 0 1 0 0 OR1L1 26737 broad.mit.edu 37 9 125424369 125424369 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:125424369C>T ENST00000373686.1 + 1 525 c.525C>T c.(523-525)gcC>gcT p.A175A Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, member 1 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 GCTATGTGGCCATATGTAATC 0.473000 75 214 0 0 1 0 0 MAGEA11 4110 broad.mit.edu 37 X 148798384 148798384 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:148798384C>T ENST00000355220.5 + 5 1340 c.1238C>T c.(1237-1239)tCt>tTt p.S413F MAGEA11_ENST00000333104.4_Missense_Mutation_p.S384F NM_005366.4 NP_005357.2 P43364 MAGAB_HUMAN melanoma antigen family A, 11 413 MAGE. cytoplasm|nucleus protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 9 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) GATCCCACTTCTTACCCATCC 0.542000 40 62 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123526147 123526147 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:123526147C>T ENST00000422452.2 - 28 5506 c.5443G>A c.(5443-5445)Gga>Aga p.G1815R TENM1_ENST00000371130.3_Missense_Mutation_p.G1808R|STAG2_ENST00000469481.1_Intron NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TAGATCTTTCCTGTGCGGGTT 0.413000 23 52 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74285296 74285296 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr4:74285296C>T ENST00000295897.4 + 13 1814 c.1725C>T c.(1723-1725)ttC>ttT p.F575F ALB_ENST00000401494.3_Silent_p.F460F|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000503124.1_Silent_p.F425F|ALB_ENST00000509063.1_Silent_p.F575F|ALB_ENST00000415165.2_Silent_p.F383F NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 575 Albumin 3. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) TGGATGATTTCGCAGCTTTTG 0.413000 17 67 0 0 1 0 0 BTK 695 broad.mit.edu 37 X 100625025 100625025 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:100625025C>T ENST00000308731.7 - 5 515 c.352G>A c.(352-354)Gaa>Aaa p.E118K BTK_ENST00000372880.1_Missense_Mutation_p.E118K NM_000061.2 NP_000052.1 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 118 PH. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 CTTAGTTCTTCAGTTGGGGAG 0.418000 Agammaglobulinemia, X-linked 33 43 0 0 1 0 0 ST6GALNAC5 81849 broad.mit.edu 37 1 77528700 77528700 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:77528700C>T ENST00000477717.1 + 5 1055 c.820C>T c.(820-822)Cct>Tct p.P274S NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 274 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 TTATTATGAACCTTTTGGACC 0.398000 12 101 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174694 150174694 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:150174694G>A ENST00000307271.3 + 5 2398 c.1824G>A c.(1822-1824)caG>caA p.Q608Q NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 608 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) AAACAGGCCAGGCCCAGGAAA 0.463000 20 135 0 0 1 0 0 GFI1 2672 broad.mit.edu 37 1 92941724 92941724 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:92941724G>A ENST00000370332.1 - 7 1449 c.1131C>T c.(1129-1131)ttC>ttT p.F377F GFI1_ENST00000294702.5_Silent_p.F377F|GFI1_ENST00000427103.1_Silent_p.F377F NM_001127215.1 NP_001120687.1 Q99684 GFI1_HUMAN growth factor independent 1 transcription repressor 377 negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203) OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191) AGCTCTGGCTGAATGCCTTGC 0.582000 4 27 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179410188 179410188 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:179410188C>T ENST00000589042.1 - 344 95873 c.95649G>A c.(95647-95649)gtG>gtA p.V31883V TTN_ENST00000342175.6_Silent_p.V23010V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.V22818V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.V22943V|TTN_ENST00000591111.1_Silent_p.V30242V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.V29315V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 30242 Ig-like 141. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCACTGCGGTCACCCGGAACT 0.498000 15 137 0 0 1 0 0 OR1D5 8386 broad.mit.edu 37 17 2966333 2966333 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:2966333G>A ENST00000575751.1 - 1 568 c.569C>T c.(568-570)tCc>tTc p.S190F NM_014566.1 NP_055381.1 P58170 OR1D5_HUMAN olfactory receptor, family 1, subfamily D, member 5 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|lung(10) 11 GTGGGTGTTGGAACATGCCAG 0.527000 6 61 0 0 1 0 0 PHF7 51533 broad.mit.edu 37 3 52456878 52456878 + Silent SNP T T C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:52456878T>C ENST00000327906.3 + 10 1560 c.900T>C c.(898-900)tgT>tgC p.C300C PHF7_ENST00000347025.2_Silent_p.C261C|PHF7_ENST00000478707.1_Silent_p.C300C NM_016483.4 NP_057567.3 Q9BWX1 PHF7_HUMAN PHD finger protein 7 300 nucleus zinc ion binding breast(2)|large_intestine(4)|lung(3) 9 BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275) GTGAGGAGTGTTCACCTGCTG 0.577000 21 153 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10210316 10210316 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:10210316C>T ENST00000418404.3 - 35 5398 c.5235G>A c.(5233-5235)gtG>gtA p.V1745V MYH13_ENST00000570743.1_Silent_p.V1745V|MYH13_ENST00000252172.4_Silent_p.V1745V Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1745 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity p.V1745V(2) breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TCGAGTTCTCCACCTCTGCCT 0.493000 8 46 0 0 1 0 0 AP1G2 8906 broad.mit.edu 37 14 24031768 24031768 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr14:24031768C>T ENST00000308724.5 - 14 2200 c.1445G>A c.(1444-1446)gGg>gAg p.G482E RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.G482E NM_003917.2 NP_003908.1 O75843 AP1G2_HUMAN adaptor-related protein complex 1, gamma 2 subunit 482 interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 28 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) CCCATACTCCCCAATGCACCA 0.597000 OREG0022605 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 36 0 0 1 0 0 C22orf43 51233 broad.mit.edu 37 22 23962796 23962796 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr22:23962796G>A ENST00000317749.5 - 5 688 c.391C>T c.(391-393)Ccg>Tcg p.P131S NM_016449.3 NP_057533.2 Q6PGQ1 CV043_HUMAN chromosome 22 open reading frame 43 131 Asp-rich. endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1) 11 ACACGTGACGGTAAAATCTGC 0.398000 9 224 0 0 1 0 0 RAPGEF1 2889 broad.mit.edu 37 9 134501591 134501591 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:134501591G>A ENST00000372195.1 - 10 1663 c.1420C>T c.(1420-1422)Ccc>Tcc p.P474S RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.P475S|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.P457S Q13905 RPGF1_HUMAN Rap guanine nucleotide exchange factor (GEF) 1 457 activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 39 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) TTCTTCTCGGGGAGAGCAGGT 0.647000 5 24 0 0 1 0 0 GLIPR1L2 144321 broad.mit.edu 37 12 75804310 75804310 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:75804310C>T ENST00000550916.1 + 2 378 c.331C>T c.(331-333)Cct>Tct p.P111S GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.P111S|GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.P111S|GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.P4S|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.P46S|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.P111S NM_001270396.1 NP_001257325.1 Q4G1C9 GRPL2_HUMAN GLI pathogenesis-related 1 like 2 111 integral to membrane kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 16 AATGGTCCATCCTAAATTTTA 0.363000 8 70 0 0 1 0 0 ANO10 55129 broad.mit.edu 37 3 43647320 43647320 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:43647320C>T ENST00000292246.3 - 2 195 c.25G>A c.(25-27)Gat>Aat p.D9N ANO10_ENST00000451430.2_Missense_Mutation_p.D9N|ANO10_ENST00000350459.4_Missense_Mutation_p.D9N|ANO10_ENST00000414522.2_Missense_Mutation_p.D9N|ANO10_ENST00000396091.3_Missense_Mutation_p.D9N NM_018075.3 NP_060545.3 Q9NW15 ANO10_HUMAN anoctamin 10 9 cell death chloride channel complex chloride channel activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3) 29 TCAGAAGTATCCAAAGCTGAT 0.348000 10 41 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140517365 140517365 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:140517365G>A ENST00000231134.5 + 1 2566 c.2349G>A c.(2347-2349)ggG>ggA p.G783G NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 783 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAGAAATAGGGAAAACTGCTG 0.468000 14 119 0 0 1 0 0 PDCD2 5134 broad.mit.edu 37 6 170892764 170892764 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:170892764C>T ENST00000541970.1 - 2 433 c.355G>A c.(355-357)Gaa>Aaa p.E119K PDCD2_ENST00000443345.2_Missense_Mutation_p.E86K|PDCD2_ENST00000542896.1_Missense_Mutation_p.E119K|PDCD2_ENST00000392090.2_Missense_Mutation_p.E86K|PDCD2_ENST00000537445.1_Missense_Mutation_p.E86K|PDCD2_ENST00000453163.2_Missense_Mutation_p.E119K NM_001199462.1|NM_002598.3 NP_001186391.1|NP_002589.2 Q16342 PDCD2_HUMAN programmed cell death 2 119 apoptosis cytoplasm|nucleus DNA binding|protein binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(1)|lung(5) 9 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142) TCTCCTGTTTCTGGGGGAGGA 0.433000 5 49 0 0 1 0 0 FAM208A 23272 broad.mit.edu 37 3 56667389 56667389 + Missense_Mutation SNP C C G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:56667389C>G ENST00000431842.2 - 11 3043 c.2119G>C c.(2119-2121)Gat>Cat p.D707H FAM208A_ENST00000493960.2_Missense_Mutation_p.D1144H|FAM208A_ENST00000355628.5_Missense_Mutation_p.D1083H NM_015224.3 NP_056039.2 Q9UK61 CC063_HUMAN family with sequence similarity 208, member A 1144 NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1) 32 GAGTTGGTATCTTTCAAAGGA 0.423000 52 213 0 0 1 0 0 UBD 10537 broad.mit.edu 37 6 29523699 29523699 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:29523699C>T ENST00000377050.4 - 2 679 c.456G>A c.(454-456)aaG>aaA p.K152K GABBR1_ENST00000355973.3_3'UTR NM_006398.3 NP_006389.2 O15205 UBD_HUMAN ubiquitin D 152 Ubiquitin 2. aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process aggresome|cytoplasm|nucleus proteasome binding kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 GTAAGTTGCCCTTTCTGATGC 0.463000 19 106 0 0 1 0 0 SMPDL3B 27293 broad.mit.edu 37 1 28282243 28282243 + Missense_Mutation SNP A A T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:28282243A>T ENST00000373894.3 + 6 930 c.739A>T c.(739-741)Aac>Tac p.N247Y SMPDL3B_ENST00000549094.1_Missense_Mutation_p.N199Y|RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000373888.4_Missense_Mutation_p.N247Y NM_014474.2 NP_055289.2 Q92485 ASM3B_HUMAN sphingomyelin phosphodiesterase, acid-like 3B 247 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 16 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055) GAAGACGCAAAACAAGGCATG 0.567000 7 118 0 0 1 0 0 CNTROB 116840 broad.mit.edu 37 17 7852463 7852463 + Silent SNP C C T rs142142775 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:7852463C>T ENST00000380262.3 + 18 3565 c.2640C>T c.(2638-2640)atC>atT p.I880I CNTROB_ENST00000563694.1_Silent_p.I858I|CNTROB_ENST00000565740.1_Silent_p.I859I|CNTROB_ENST00000380255.3_3'UTR NM_001037144.5 NP_001032221.1 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 858 Required for centrosome localization. centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) TGGGTGAGATCCCCCGGAAAG 0.582000 12 107 0 0 1 0 0 CHRNG 1146 broad.mit.edu 37 2 233407618 233407618 + Nonsense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:233407618C>T ENST00000389494.3 + 7 652 c.631C>T c.(631-633)Cga>Tga p.R211* CHRNG_ENST00000389492.3_Nonsense_Mutation_p.R159* NM_005199.4 NP_005190.4 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma (muscle) 211 muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) CATCCAGCACCGACCAGCCAA 0.642000 4 33 0 0 1 0 0 ZNF687 57592 broad.mit.edu 37 1 151261177 151261177 + Silent SNP A A G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:151261177A>G ENST00000368879.2 + 3 2387 c.2289A>G c.(2287-2289)ggA>ggG p.G763G NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 763 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GCCGTGTAGGATACAGGTGCC 0.567000 18 118 0 0 1 0 0 TSPYL2 64061 broad.mit.edu 37 X 53114855 53114855 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:53114855C>T ENST00000375442.4 + 6 1413 c.1281C>T c.(1279-1281)gcC>gcT p.A427A NM_022117.3 NP_071400.1 Q9H2G4 TSYL2_HUMAN TSPY-like 2 427 cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus protein binding|rDNA binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 19 TGGAAGACGCCCCTGACTATT 0.483000 20 51 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77776784 77776784 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:77776784G>A ENST00000521891.2 + 11 11282 c.10834G>A c.(10834-10836)Gat>Aat p.D3612N ZFHX4_ENST00000455469.2_Missense_Mutation_p.D3567N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D3563N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D3586N NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3563 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CATCCGAATGGATATGTTCAG 0.368000 HNSCC(33;0.089) 3 20 0 0 1 0 0 WDR96 80217 broad.mit.edu 37 10 105920848 105920848 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:105920848C>T ENST00000357060.3 - 27 3602 c.3487G>A c.(3487-3489)Gat>Aat p.D1163N WDR96_ENST00000428666.1_Missense_Mutation_p.D1164N NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 1163 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TTCTCATAATCTTTGAATTGT 0.333000 3 19 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc 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 24 90 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108812284 108812284 + Splice_Site SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:108812284C>T ENST00000232603.5 - 8 770 c.689_splice c.e8+1 p.D230_splice MORC1_ENST00000483760.1_Splice_Site_p.D230_splice NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 230 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 CACACATACTCCTCCAGAGCT 0.438000 12 61 0 0 1 0 0 NOC3L 64318 broad.mit.edu 37 10 96094420 96094420 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:96094420G>A ENST00000371361.3 - 20 2345 c.2245C>T c.(2245-2247)Cct>Tct p.P749S NOC3L_ENST00000371350.1_Missense_Mutation_p.P749S|NOC3L_ENST00000543788.1_Missense_Mutation_p.P487S NM_022451.9 NP_071896.8 Q8WTT2 NOC3L_HUMAN nucleolar complex associated 3 homolog (S. cerevisiae) 749 nuclear speck|nucleolus binding endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1) 29 Colorectal(252;0.0897) GATTCAACAGGAGGATTGAAT 0.333000 26 101 0 0 1 0 0 HCP5 10866 broad.mit.edu 37 6 31431022 31431022 + RNA SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:31431022C>T ENST00000414046.2 + 0 185 NR_040662.1 Q6MZN7 HCP5_HUMAN defense response urinary_tract(1) 1 TCCTGCTGTTCTCGGGAGCCG 0.662000 3 15 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150324919 150324919 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:150324919C>T ENST00000328902.5 - 3 983 c.767G>A c.(766-768)gGc>gAc p.G256D GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 256 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGAGCCTTGGCCCTGGCTTAC 0.512000 18 130 0 0 1 0 0 SELL 6402 broad.mit.edu 37 1 169680653 169680653 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:169680653C>T ENST00000236147.4 - 1 186 c.26G>A c.(25-27)gGa>gAa p.G9E SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron NM_000655.4 NP_000646.2 P14151 LYAM1_HUMAN selectin L 0 blood coagulation|cell adhesion|leukocyte migration|regulation of immune response integral to plasma membrane glycosphingolipid binding|heparin binding|protease binding|sugar binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 15 all_hematologic(923;0.208) TTTGCTTGGTCCTTCTCTAGT 0.507000 7 16 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144945154 144945154 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:144945154G>A ENST00000525985.1 - 2 2339 c.2268C>T c.(2266-2268)atC>atT p.I756I P58107 EPIPL_HUMAN epiplakin 1 756 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGTCCAACAGGATCAAGTTCA 0.637000 20 130 0 0 1 0 0 OR2B2 81697 broad.mit.edu 37 6 27879707 27879707 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:27879707G>A ENST00000303324.2 - 1 467 c.391C>T c.(391-393)Cat>Tat p.H131Y NM_033057.2 NP_149046.2 Q9GZK3 OR2B2_HUMAN olfactory receptor, family 2, subfamily B, member 2 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 22 ATTGAGTAATGGAGAGGCCGA 0.483000 15 94 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41019029 41019029 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:41019029G>A ENST00000399564.4 - 25 2983 c.2533C>T c.(2533-2535)Ctg>Ttg p.L845L MROH2B_ENST00000506092.2_Silent_p.L400L NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TCACTTTTCAGATTTTCCAGA 0.473000 3 42 0 0 1 0 0 TRIM55 84675 broad.mit.edu 37 8 67040682 67040682 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:67040682C>T ENST00000315962.4 + 2 685 c.312C>T c.(310-312)atC>atT p.I104I TRIM55_ENST00000276573.7_Silent_p.I104I|TRIM55_ENST00000353317.5_Silent_p.I104I|TRIM55_ENST00000350034.4_Silent_p.I104I NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 104 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) TGGAAAATATCATTGACATCT 0.458000 29 112 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156641246 156641246 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:156641246C>T ENST00000368223.3 - 4 2866 c.2734G>A c.(2734-2736)Gaa>Aaa p.E912K NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 912 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTTTGACTTTCCTTGTCTACC 0.507000 16 85 0 0 1 0 0 DDAH1 23576 broad.mit.edu 37 1 85790432 85790432 + Missense_Mutation SNP T T A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:85790432T>A ENST00000284031.8 - 5 826 c.732A>T c.(730-732)gaA>gaT p.E244D DDAH1_ENST00000535924.2_Missense_Mutation_p.E141D|DDAH1_ENST00000542148.1_Missense_Mutation_p.E144D|RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000426972.3_Missense_Mutation_p.E151D|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000483110.1_5'UTR|DDAH1_ENST00000539042.1_Missense_Mutation_p.E244D NM_012137.3 NP_036269.1 O94760 DDAH1_HUMAN dimethylarginine dimethylaminohydrolase 1 244 arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction dimethylargininase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1) 5 all cancers(265;0.0318)|Epithelial(280;0.0657) L-Citrulline(DB00155) CCTTTGCACTTTCTGGATACT 0.468000 14 121 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8484375 8484375 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:8484375G>A ENST00000381196.4 - 27 3700 c.3157C>T c.(3157-3159)Ctt>Ttt p.L1053F PTPRD_ENST00000358503.5_Missense_Mutation_p.L1031F|PTPRD_ENST00000486161.1_Missense_Mutation_p.L642F|PTPRD_ENST00000397611.3_Missense_Mutation_p.L639F|PTPRD_ENST00000397617.3_Missense_Mutation_p.L632F|PTPRD_ENST00000397606.3_Missense_Mutation_p.L632F|PTPRD_ENST00000360074.4_Missense_Mutation_p.L1040F|PTPRD_ENST00000355233.5_Missense_Mutation_p.L642F|PTPRD_ENST00000356435.5_Missense_Mutation_p.L1053F|PTPRD_ENST00000537002.1_Missense_Mutation_p.L639F|PTPRD_ENST00000540109.1_Missense_Mutation_p.L1053F NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1053 Fibronectin type-III 8. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.L1053I(2)|p.L1053V(1) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TCATCATAAAGAATCTAAAGA 0.338000 TSP Lung(15;0.13) 3 16 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39229628 39229628 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:39229628C>T ENST00000340369.3 - 2 1537 c.1309G>A c.(1309-1311)Gat>Aat p.D437N XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.D437N NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 437 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GTCTTCACATCCCCCTTTAGC 0.557000 51 290 0 0 1 0 0 TBC1D22A 25771 broad.mit.edu 37 22 47569255 47569255 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr22:47569255C>T ENST00000337137.4 + 13 1706 c.1540C>T c.(1540-1542)Cac>Tac p.H514Y TBC1D22A_ENST00000407381.3_Missense_Mutation_p.H455Y|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.H436Y|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.H467Y NM_014346.2 NP_055161.1 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 514 intracellular protein homodimerization activity|Rab GTPase activator activity breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1) 22 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) CGCCCCCAATCACTACAAGAA 0.652000 39 124 0 0 1 0 0 MYH14 79784 broad.mit.edu 37 19 50804990 50804990 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:50804990C>T ENST00000440075.2 + 40 5589 c.5542C>T c.(5542-5544)Ctg>Ttg p.L1848L MYH14_ENST00000598205.1_Silent_p.L1815L|MYH14_ENST00000376970.2_Silent_p.L1840L|MYH14_ENST00000262269.8_Silent_p.L1848L|MYH14_ENST00000601313.1_Silent_p.L1848L|MYH14_ENST00000596571.1_Silent_p.L1807L|MYH14_ENST00000425460.1_Silent_p.L1815L Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 1807 axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GCGGCAGCAGCTGGAACGGCA 0.612000 10 51 0 0 1 0 0 PNCK 139728 broad.mit.edu 37 X 152937353 152937353 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:152937353G>A ENST00000393831.2 - 5 830 c.396C>T c.(394-396)atC>atT p.I132I PNCK_ENST00000370150.1_Silent_p.I132I|PNCK_ENST00000370145.4_Silent_p.I149I|PNCK_ENST00000370142.1_Silent_p.I132I|PNCK_ENST00000340888.3_Silent_p.I132I|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000447676.2_Silent_p.I215I NM_001039582.3 NP_001034671.3 Q6P2M8 KCC1B_HUMAN pregnancy up-regulated nonubiquitous CaM kinase 132 Protein kinase. cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|lung(3)|skin(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCCGGTGCACGATCCCCAGGC 0.667000 6 11 0 0 1 0 0 DCAF6 55827 broad.mit.edu 37 1 167962580 167962580 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:167962580C>T ENST00000367840.3 + 7 899 c.805C>T c.(805-807)Ctc>Ttc p.L269F DCAF6_ENST00000367843.3_Missense_Mutation_p.L269F|DCAF6_ENST00000312263.6_Missense_Mutation_p.L269F|DCAF6_ENST00000432587.2_Missense_Mutation_p.L238F NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 269 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 TCAAGAGATTCTCGTTAGTTA 0.408000 13 57 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56423515 56423515 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:56423515G>A ENST00000588751.1 - 5 1692 c.1668C>T c.(1666-1668)ttC>ttT p.F556F NLRP13_ENST00000342929.3_Silent_p.F556F Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 556 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) AATGGGGAGGGAATTCTCTAG 0.458000 21 106 0 0 1 0 0 SMARCC2 6601 broad.mit.edu 37 12 56565110 56565110 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:56565110G>A ENST00000394023.3 - 22 2397 c.2292C>T c.(2290-2292)ttC>ttT p.F764F SMARCC2_ENST00000347471.4_Silent_p.F764F|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Silent_p.F733F|SMARCC2_ENST00000550164.1_Silent_p.F764F NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 733 Glu-rich. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TTTCCAGACCGAAGGCAGGGT 0.542000 17 50 0 0 1 0 0 CARD14 79092 broad.mit.edu 37 17 78156504 78156504 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:78156504C>T ENST00000573882.1 + 5 800 c.264C>T c.(262-264)ttC>ttT p.F88F CARD14_ENST00000344227.2_Silent_p.F88F|CARD14_ENST00000570421.1_Silent_p.F88F Q9BXL6 CAR14_HUMAN caspase recruitment domain family, member 14 88 CARD. activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1) 23 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CCATCGCCTTCCTGGAGAGCC 0.582000 6 42 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175086223 175086223 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:175086223G>A ENST00000239462.4 + 10 2381 c.2268G>A c.(2266-2268)ggG>ggA p.G756G NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 756 Fibronectin type-III 6. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TTCCGGTGGGGAAGGAGCAGA 0.652000 25 128 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105153173 105153173 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:105153173G>A ENST00000428173.2 + 13 1846 c.1543G>A c.(1543-1545)Gac>Aac p.D515N NRK_ENST00000243300.9_Missense_Mutation_p.D514N Q7Z2Y5 NRK_HUMAN Nik related kinase 514 Gln-rich. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 ACAAGATTTGGACCAGGTACC 0.547000 HNSCC(51;0.14) 14 24 0 0 1 0 0 CRELD2 79174 broad.mit.edu 37 22 50315377 50315377 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr22:50315377C>T ENST00000404488.3 + 5 695 c.560C>T c.(559-561)tCg>tTg p.S187L CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000407217.3_Missense_Mutation_p.S187L|CRELD2_ENST00000328268.4_Missense_Mutation_p.S187L|CRELD2_ENST00000403427.3_Missense_Mutation_p.S187L NM_001135101.1 NP_001128573.1 Q6UXH1 CREL2_HUMAN cysteine-rich with EGF-like domains 2 187 endoplasmic reticulum|extracellular region calcium ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3) 9 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247) TACTTCAGCTCGCTCCGGAAC 0.672000 25 124 0 0 1 0 0 DDX27 55661 broad.mit.edu 37 20 47850197 47850197 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr20:47850197C>T ENST00000371764.4 + 11 1326 c.1317C>T c.(1315-1317)ttC>ttT p.F439F DDX27_ENST00000484427.1_3'UTR NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 439 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGCAGGAGTTCATCCGGATCC 0.577000 26 127 0 0 1 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12943054 12943054 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:12943054C>T ENST00000235349.5 - 2 232 c.162G>A c.(160-162)ctG>ctA p.L54L NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 54 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCATCAGCTTCAGGGCCTCAC 0.612000 21 48 0 0 1 0 0 OR51G2 81282 broad.mit.edu 37 11 4936635 4936635 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:4936635G>A ENST00000322013.3 - 1 287 c.259C>T c.(259-261)Ctg>Ttg p.L87L MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AAGATGCCCAGGACTGTAGGG 0.493000 10 37 0 0 1 0 0 LHFPL4 375323 broad.mit.edu 37 3 9543941 9543941 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:9543941C>T ENST00000287585.6 - 4 983 c.698G>A c.(697-699)gGa>gAa p.G233E NM_198560.2 NP_940962.1 Q7Z7J7 LHPL4_HUMAN lipoma HMGIC fusion partner-like 4 233 integral to membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1) 10 Medulloblastoma(99;0.227) GACTCCCCATCCAGAGACATC 0.552000 8 61 0 0 1 0 0 ADAM22 53616 broad.mit.edu 37 7 87785248 87785248 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:87785248C>T ENST00000398204.4 + 22 2157 c.1834C>T c.(1834-1836)Cca>Tca p.P612S ADAM22_ENST00000315984.7_Missense_Mutation_p.P612S|ADAM22_ENST00000398201.4_Missense_Mutation_p.P612S|ADAM22_ENST00000265727.7_Missense_Mutation_p.P612S|ADAM22_ENST00000398209.3_Missense_Mutation_p.P612S NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 612 Cys-rich. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) TGGCAATATCCCAAGGCTTGG 0.363000 25 153 0 0 1 0 0 EPHB4 2050 broad.mit.edu 37 7 100410420 100410420 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:100410420G>A ENST00000358173.3 - 12 2535 c.2067C>T c.(2065-2067)gtC>gtT p.V689V EPHB4_ENST00000360620.3_Silent_p.V689V NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 689 Protein kinase. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) TGAGAATCATGACGGGCATGC 0.622000 19 75 0 0 1 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161021228 161021228 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:161021228C>T ENST00000368013.3 - 10 1616 c.1296G>A c.(1294-1296)ccG>ccA p.P432P ARHGAP30_ENST00000368016.3_Silent_p.P432P|ARHGAP30_ENST00000368015.1_Silent_p.P255P NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 432 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) AGATGATGTTCGGGGGCACAC 0.622000 23 108 0 0 1 0 0 ACPP 55 broad.mit.edu 37 3 132047117 132047117 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:132047117C>T ENST00000336375.5 + 2 217 c.127C>T c.(127-129)Cgg>Tgg p.R43W ACPP_ENST00000489084.1_3'UTR|ACPP_ENST00000351273.7_Missense_Mutation_p.R43W|ACPP_ENST00000475741.1_Missense_Mutation_p.R43W NM_001099.4 NP_001090.2 P15309 PPAP_HUMAN acid phosphatase, prostate 43 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 27 TCAGGTGTTTCGGCATGGAGA 0.443000 14 69 0 0 1 0 0 CHODL 140578 broad.mit.edu 37 21 19632568 19632568 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr21:19632568G>A ENST00000299295.2 + 4 990 c.599G>A c.(598-600)gGa>gAa p.G200E CHODL_ENST00000338326.3_Missense_Mutation_p.G159E|CHODL_ENST00000400131.1_Missense_Mutation_p.G159E|CHODL_ENST00000400128.1_Missense_Mutation_p.G159E|CHODL_ENST00000400135.1_Missense_Mutation_p.G159E|CHODL_ENST00000543733.1_Missense_Mutation_p.G181E|CHODL_ENST00000400127.1_Missense_Mutation_p.G159E NM_001204175.1|NM_024944.2 NP_001191104.1|NP_079220.2 Q9H9P2 CHODL_HUMAN chondrolectin 200 muscle organ development integral to membrane|perinuclear region of cytoplasm sugar binding kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_epithelial(11;0.21) Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917) AATCAACCAGGAGACACCCAT 0.358000 34 108 0 0 1 0 0 LRG1 116844 broad.mit.edu 37 19 4538235 4538235 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:4538235C>T ENST00000306390.6 - 2 1221 c.761G>A c.(760-762)gGt>gAt p.G254D CTB-50L17.14_ENST00000586020.1_Intron NM_052972.2 NP_443204.1 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 254 extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CTGGAAGGCACCGGCTGCCAC 0.622000 50 207 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43766146 43766146 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:43766146C>T ENST00000244293.7 - 3 641 c.575G>A c.(574-576)aGg>aAg p.R192K PSG9_ENST00000291752.5_Intron|PSG9_ENST00000593948.1_Missense_Mutation_p.R192K|PSG9_ENST00000270077.3_Missense_Mutation_p.R192K|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000443718.3_Intron Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 192 Ig-like C2-type 1. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) CAGCTGCAACCTGTGAGTCAC 0.507000 41 299 0 0 1 0 0 ARSB 411 broad.mit.edu 37 5 78260239 78260239 + Splice_Site SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:78260239C>T ENST00000264914.4 - 3 1226 c.690_splice c.e3+1 p.K230_splice ARSB_ENST00000565165.1_Splice_Site_p.K230_splice|ARSB_ENST00000396151.3_Splice_Site_p.K230_splice NM_000046.3 NP_000037.2 P15848 ARSB_HUMAN arylsulfatase B 230 lysosomal transport|lysosome organization lysosome arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34) CAAAACTTACCTTCTCTGGTG 0.348000 7 41 0 0 1 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332424 22332424 + RNA SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr15:22332424G>A ENST00000558896.1 + 0 231 AAAAAAACAAGATTCTAACGT 0.328000 5 77 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182360647 182360647 + Missense_Mutation SNP A A C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:182360647A>C ENST00000397033.2 + 14 1953 c.1523A>C c.(1522-1524)gAa>gCa p.E508A NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 508 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) AAGGGCAAGGAAGTTCCAGGT 0.438000 14 127 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55587212 55587212 + Silent SNP C C G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:55587212C>G ENST00000373965.2 - 33 4723 c.4329G>C c.(4327-4329)ccG>ccC p.P1443P PCDH15_ENST00000395430.1_Silent_p.P1433P|PCDH15_ENST00000395433.1_Silent_p.P1411P|PCDH15_ENST00000361849.3_Silent_p.P1436P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Silent_p.P1436P|PCDH15_ENST00000409834.1_Silent_p.P1047P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Silent_p.P1365P|PCDH15_ENST00000414778.1_Silent_p.P1438P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Silent_p.P1443P|PCDH15_ENST00000395432.2_Silent_p.P1396P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Silent_p.P1436P|PCDH15_ENST00000395446.1_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1436 Poly-Pro. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) gcggcggcggcgggggcgCTG 0.582000 HNSCC(58;0.16) 3 65 0 0 1 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95726821 95726821 + Nonsense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:95726821G>A ENST00000324972.6 + 17 2047 c.1854G>A c.(1852-1854)tgG>tgA p.W618* DYNC1I1_ENST00000447467.2_Nonsense_Mutation_p.W601*|DYNC1I1_ENST00000457059.1_Nonsense_Mutation_p.W601*|DYNC1I1_ENST00000437599.1_Nonsense_Mutation_p.W598*|DYNC1I1_ENST00000359388.4_Nonsense_Mutation_p.W581*|DYNC1I1_ENST00000537881.1_Intron NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 618 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) ATGATGAATGGACCCGATTTG 0.463000 16 98 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6228338 6228338 + Splice_Site SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:6228338C>T ENST00000262450.3 - 2 179 c.e2-1 CHD5_ENST00000378021.1_Splice_Site NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) TCTTCTTCTTCTGGAAAAATC 0.532000 31 98 0 0 1 0 0 SELPLG 6404 broad.mit.edu 37 12 109017521 109017521 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:109017521C>T ENST00000388962.3 - 3 692 c.533G>A c.(532-534)gGc>gAc p.G178D SELPLG_ENST00000550948.1_Missense_Mutation_p.G188D|SELPLG_ENST00000228463.6_Missense_Mutation_p.G204D NM_003006.4 NP_002997.2 Q14242 SELPL_HUMAN selectin P ligand 188 12 X 10 AA tandem repeats. blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1) 12 TGCCTCCAGGCCTGTGGGTTG 0.637000 35 131 0 0 1 0 0 BUB1 699 broad.mit.edu 37 2 111413475 111413475 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:111413475C>T ENST00000535254.1 - 15 1724 c.1657G>A c.(1657-1659)Gaa>Aaa p.E553K BUB1_ENST00000409311.1_Missense_Mutation_p.E573K|BUB1_ENST00000302759.6_Missense_Mutation_p.E573K NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 573 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) AAAAACTCTTCAGCATGAGGC 0.428000 21 166 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26422498 26422498 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr22:26422498C>T ENST00000335473.7 + 43 6808 c.6558C>T c.(6556-6558)acC>acT p.T2186T MYO18B_ENST00000536101.1_Silent_p.T2186T|MYO18B_ENST00000407587.2_Silent_p.T2187T NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2186 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 ACAGCAAGACCTCAGGAGACA 0.562000 24 84 0 0 1 0 0 CDCA7 83879 broad.mit.edu 37 2 174228136 174228136 + Missense_Mutation SNP T T G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:174228136T>G ENST00000306721.3 + 4 670 c.567T>G c.(565-567)agT>agG p.S189R CDCA7_ENST00000392567.2_Missense_Mutation_p.S110R|CDCA7_ENST00000410019.3_Missense_Mutation_p.S68R|CDCA7_ENST00000410101.3_Missense_Mutation_p.S145R|CDCA7_ENST00000347703.3_Missense_Mutation_p.S110R NM_031942.4 NP_114148.3 Q9BWT1 CDCA7_HUMAN cell division cycle associated 7 110 regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.116) AAGATGAAAGTGGAATGAATT 0.418000 9 47 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42857946 42857946 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:42857946C>T ENST00000334370.4 + 21 4215 c.3580C>T c.(3580-3582)Cgg>Tgg p.R1194W MEGF8_ENST00000251268.6_Missense_Mutation_p.R1261W NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1261 Laminin EGF-like 1. integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) TTCCTGCTTTCGGGAGTGTGG 0.682000 6 28 0 0 1 0 0 MYO10 4651 broad.mit.edu 37 5 16681582 16681582 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:16681582G>A ENST00000513610.1 - 32 4674 c.4220C>T c.(4219-4221)cCa>cTa p.P1407L MYO10_ENST00000274203.9_Missense_Mutation_p.P764L|MYO10_ENST00000505695.1_Missense_Mutation_p.P746L|MYO10_ENST00000427430.2_Missense_Mutation_p.P764L|MYO10_ENST00000515803.1_Missense_Mutation_p.P746L NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1407 PH 2. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 AGACATCTTTGGACTGTTCTT 0.423000 17 145 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 105263863 105263863 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:105263863C>T ENST00000507740.1 + 22 3543 c.3307C>T c.(3307-3309)Cac>Tac p.H1103Y RIMS2_ENST00000339750.2_Missense_Mutation_p.H225Y|RIMS2_ENST00000436393.2_Missense_Mutation_p.H1307Y|RIMS2_ENST00000406091.3_Missense_Mutation_p.H1289Y|RIMS2_ENST00000262231.10_Missense_Mutation_p.H1128Y NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1351 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CCGCATGGATCACAAATCTTT 0.398000 HNSCC(12;0.0054) 24 152 0 0 1 0 0 INTS3 65123 broad.mit.edu 37 1 153740201 153740201 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:153740201C>T ENST00000456435.1 + 21 2710 c.1524C>T c.(1522-1524)acC>acT p.T508T INTS3_ENST00000512605.1_Silent_p.T508T|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000318967.2_Silent_p.T714T|INTS3_ENST00000435409.2_Silent_p.T714T Q68E01 INT3_HUMAN integrator complex subunit 3 715 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CCCAGGCTACCCAGCTGGGCG 0.627000 36 121 0 0 1 0 0 USP4 7375 broad.mit.edu 37 3 49321500 49321500 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:49321500G>A ENST00000351842.4 - 18 2327 c.2319C>T c.(2317-2319)atC>atT p.I773I USP4_ENST00000265560.4_Silent_p.I820I NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 820 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) GGACCACCAGGATCTTGGGCA 0.478000 21 100 0 0 1 0 0 LGR6 59352 broad.mit.edu 37 1 202288019 202288019 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:202288019C>T ENST00000367278.3 + 18 2677 c.2588C>T c.(2587-2589)tCc>tTc p.S863F LGR6_ENST00000255432.7_Missense_Mutation_p.S811F|LGR6_ENST00000439764.2_Missense_Mutation_p.S724F NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 863 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 GAGAAGAGCTCCTGTGATTCT 0.637000 14 70 0 0 1 0 0 C6orf222 389384 broad.mit.edu 37 6 36287271 36287271 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:36287271G>A ENST00000437635.2 - 11 1962 c.1785C>T c.(1783-1785)aaC>aaT p.N595N NM_001010903.4 NP_001010903.3 P0C671 CF222_HUMAN chromosome 6 open reading frame 222 595 breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 TCCTGGCGCGGTTCCTGTCCA 0.537000 29 106 0 0 1 0 0 PAN3 255967 broad.mit.edu 37 13 28862197 28862197 + Nonsense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr13:28862197C>T ENST00000399613.1 + 17 1924 c.1861C>T c.(1861-1863)Cag>Tag p.Q621* PAN3_ENST00000380958.3_Nonsense_Mutation_p.Q821*|PAN3_ENST00000282391.5_Nonsense_Mutation_p.Q509* Q58A45 PAN3_HUMAN PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 821 Interaction with PAN2.|Protein kinase. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) TCTTTTTCATCAGGTGACAGA 0.393000 4 54 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3683907 3683907 + Missense_Mutation SNP A A T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr20:3683907A>T ENST00000344754.4 - 5 1164 c.1165T>A c.(1165-1167)Ttc>Atc p.F389I SIGLEC1_ENST00000202578.4_Missense_Mutation_p.F389I NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 389 Ig-like C2-type 3. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 ACCTCACAGAAGTAGAAGCCA 0.602000 17 63 0 0 1 0 0 AMIGO1 57463 broad.mit.edu 37 1 110050910 110050910 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:110050910G>A ENST00000369864.4 - 2 974 c.625C>T c.(625-627)Ccg>Tcg p.P209S AMIGO1_ENST00000369862.1_Missense_Mutation_p.P209S Q86WK6 AMGO1_HUMAN adhesion molecule with Ig-like domain 1 209 axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis axon|integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) ATCCAGGCCGGCAGCTTCTGC 0.527000 9 110 0 0 1 0 0 CACNB4 785 broad.mit.edu 37 2 152739827 152739827 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:152739827C>T ENST00000360283.6 - 2 360 c.103G>A c.(103-105)Gac>Aac p.D35N CACNB4_ENST00000427385.1_Missense_Mutation_p.D51N|CACNB4_ENST00000397327.2_Missense_Mutation_p.D22N|CACNB4_ENST00000201943.5_Missense_Mutation_p.D69N|CACNB4_ENST00000534999.1_Missense_Mutation_p.D35N|CACNB4_ENST00000539935.1_Missense_Mutation_p.D69N|CACNB4_ENST00000475848.1_5'UTR O00305 CACB4_HUMAN calcium channel, voltage-dependent, beta 4 subunit 69 axon guidance|membrane depolarization|synaptic transmission cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(221;0.156) Verapamil(DB00661) GCTTCCCGGTCCTCTTCCAAA 0.483000 15 149 0 0 1 0 0 CLCA3P 9629 broad.mit.edu 37 1 87104713 87104713 + RNA SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:87104713G>A ENST00000456587.1 - 0 294 CLCA3P_ENST00000466454.1_RNA GCAAAATCTTGATTCTGTAAG 0.383000 9 61 0 0 1 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22846948 22846948 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr15:22846948C>T ENST00000283645.4 + 8 953 c.823C>T c.(823-825)Cta>Tta p.L275L TUBGCP5_ENST00000453949.2_Silent_p.L275L NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 275 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) TCGGGAAACCCTATGGTAAGA 0.358000 11 66 0 0 1 0 0 ADSSL1 122622 broad.mit.edu 37 14 105212676 105212676 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr14:105212676G>A ENST00000332972.5 + 12 1563 c.1404G>A c.(1402-1404)caG>caA p.Q468Q ADSSL1_ENST00000556623.1_Silent_p.Q31Q|ADSSL1_ENST00000330877.2_Silent_p.Q425Q|ADSSL1_ENST00000554657.1_3'UTR|ADSSL1_ENST00000555674.1_Silent_p.Q31Q NM_199165.1 NP_954634.1 Q8N142 PURA1_HUMAN adenylosuccinate synthase like 1 425 AMP biosynthetic process|immune system process|purine base metabolic process cytosol adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1) 11 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.18) L-Aspartic Acid(DB00128) TGCCCCCACAGGCCCAGAACT 0.622000 5 41 0 0 1 0 0 DGKD 8527 broad.mit.edu 37 2 234345049 234345049 + Missense_Mutation SNP C C G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:234345049C>G ENST00000264057.2 + 7 793 c.781C>G c.(781-783)Cgc>Ggc p.R261G DGKD_ENST00000409813.3_Missense_Mutation_p.R217G NM_152879.2 NP_690618.2 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa 261 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) CAGTGTGCTGCGCCTGCAGGA 0.637000 8 48 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151161580 151161580 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:151161580C>T ENST00000282466.3 - 5 5154 c.5155G>A c.(5155-5157)Gga>Aga p.G1719R NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1719 Ig-like C2-type 3. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AAGTACTGTCCGCGGTCCTGA 0.507000 OREG0006779 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=IGSF10|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 9 84 0 0 1 0 0 ZNF33B 7582 broad.mit.edu 37 10 43089382 43089382 + Nonsense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:43089382C>T ENST00000359467.3 - 5 1130 c.1016G>A c.(1015-1017)tGg>tAg p.W339* ZNF33B_ENST00000486187.1_RNA NM_006955.1 NP_008886.1 Q06732 ZN33B_HUMAN zinc finger protein 33B 339 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 TGACTTCTCCCAGAAAGCTTT 0.413000 27 186 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 180031404 180031404 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:180031404G>A ENST00000367607.3 + 26 5730 c.5312G>A c.(5311-5313)aGa>aAa p.R1771K NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 1771 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 CGGAAGGAAAGACAGCTGATT 0.423000 7 18 0 0 1 0 0 SYK 6850 broad.mit.edu 37 9 93636491 93636491 + Silent SNP C C T rs146732805 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:93636491C>T ENST00000375754.4 + 8 1069 c.921C>T c.(919-921)tcC>tcT p.S307S SYK_ENST00000375747.1_Silent_p.S284S|SYK_ENST00000375751.4_Silent_p.S284S|SYK_ENST00000375746.1_Silent_p.S307S NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 307 Linker. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 TTTAGTCCTCCCCTGCCCAAG 0.413000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 9 52 0 0 1 0 0 ABCC10 89845 broad.mit.edu 37 6 43406446 43406446 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:43406446C>T ENST00000244533.3 + 6 2315 c.1956C>T c.(1954-1956)atC>atT p.I652I ABCC10_ENST00000372530.4_Silent_p.I680I NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 680 ABC transporter 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) TTGCCACCATCCGAGACAACA 0.597000 23 96 0 0 1 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49364935 49364935 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:49364935G>A ENST00000263265.6 - 4 762 c.207C>T c.(205-207)ctC>ctT p.L69L PLEKHA4_ENST00000355496.5_Silent_p.L69L NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 69 PH. cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) TCCAGAGACGGAGCCCCGAGC 0.617000 5 40 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11562770 11562770 + Missense_Mutation SNP T T C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:11562770T>C ENST00000294484.6 + 3 1270 c.1132T>C c.(1132-1134)Tac>Cac p.Y378H PTCHD2_ENST00000389575.3_Missense_Mutation_p.Y378H NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 378 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CCCTGAGTTCTACTGGTATGT 0.592000 3 42 0 0 1 0 0 EPRS 2058 broad.mit.edu 37 1 220180604 220180604 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:220180604G>A ENST00000366923.3 - 14 1951 c.1682C>T c.(1681-1683)tCg>tTg p.S561L EPRS_ENST00000464052.1_5'UTR NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 561 Glutamyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) CTCACCCTCCGAAAAAGTCTC 0.368000 4 50 0 0 1 0 0 NR4A2 4929 broad.mit.edu 37 2 157186670 157186670 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:157186670G>A ENST00000339562.4 - 3 391 c.29C>T c.(28-30)tCc>tTc p.S10F NR4A2_ENST00000409108.2_Missense_Mutation_p.S10F|NR4A2_ENST00000426264.1_Intron|NR4A2_ENST00000429376.1_Intron|NR4A2_ENST00000409572.1_Missense_Mutation_p.S10F|NR4A2_ENST00000539077.1_Missense_Mutation_p.S21F NM_006186.3 NP_006177.1 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 10 cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 40 TTGAGGCGAGGACCCATACTG 0.522000 8 30 0 0 1 0 0 TMPO 7112 broad.mit.edu 37 12 98938116 98938116 + Missense_Mutation SNP C C G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:98938116C>G ENST00000556029.1 + 5 1128 c.772C>G c.(772-774)Cca>Gca p.P258A TMPO_ENST00000393053.2_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000548223.1_3'UTR NM_001032283.2 NP_001027454.1 P42167 LAP2B_HUMAN thymopoietin 258 Nucleoplasmic (Potential). integral to membrane|nuclear inner membrane DNA binding|lamin binding breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 AAGAAGAACTCCAAGGAAAAG 0.373000 12 98 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107589322 107589322 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:107589322G>A ENST00000374736.3 - 16 2638 c.2244C>T c.(2242-2244)gcC>gcT p.A748A ABCA1_ENST00000494467.1_5'UTR NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 748 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TGCCCCCACAGGCTGCTGCCA 0.552000 23 83 0 0 1 0 0 ACVRL1 94 broad.mit.edu 37 12 52312836 52312836 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:52312836G>A ENST00000550683.1 + 8 1457 c.1356G>A c.(1354-1356)atG>atA p.M452I ACVRL1_ENST00000388922.4_Missense_Mutation_p.M438I|ACVRL1_ENST00000419526.2_Missense_Mutation_p.M264I NM_001077401.1 NP_001070869.1 P37023 ACVL1_HUMAN activin A receptor type II-like 1 438 Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) TTGAGGACATGAAGAAGGTGG 0.572000 11 98 0 0 1 0 0 SNTG1 54212 broad.mit.edu 37 8 51705264 51705264 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:51705264C>T ENST00000522124.1 + 19 2090 c.1429C>T c.(1429-1431)Cac>Tac p.H477Y SNTG1_ENST00000517473.1_Missense_Mutation_p.H440Y|SNTG1_ENST00000518864.1_Missense_Mutation_p.H477Y|SNTG1_ENST00000276467.5_Missense_Mutation_p.H440Y NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 477 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TGCTGTTCTTCACTGCATTCA 0.368000 24 141 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52403858 52403858 + Silent SNP C C T rs61753444 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:52403858C>T ENST00000420323.2 + 38 6222 c.5961C>T c.(5959-5961)ttC>ttT p.F1987F NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1987 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CCATGATGTTCGAGGTGCAAG 0.622000 11 67 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27556771 27556771 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:27556771G>A ENST00000356183.4 - 2 310 c.295C>T c.(295-297)Ccc>Tcc p.P99S GTF3C1_ENST00000561623.1_Missense_Mutation_p.P99S NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 99 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 ATATGAATGGGGTAGACATCC 0.418000 10 72 0 0 1 0 0 LOC100128164 100128164 broad.mit.edu 37 3 169664489 169664489 + RNA SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:169664489C>T ENST00000483289.2 - 0 2805 RP11-379K17.4_ENST00000487580.1_RNA NR_027622.1 CATACTTTTTCCTCTGCAAGG 0.522000 18 85 0 0 1 0 0 SLX4 84464 broad.mit.edu 37 16 3639257 3639257 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:3639257G>A ENST00000294008.3 - 12 5022 c.4382C>T c.(4381-4383)gCc>gTc p.A1461V NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1461 Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 GCTGTCGGCGGCCTCGTTCAT 0.652000 Direct reversal of damage 38 174 0 0 1 0 0 TRPC1 7220 broad.mit.edu 37 3 142521062 142521062 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:142521062C>T ENST00000273482.6 + 9 1922 c.1531C>T c.(1531-1533)Ctt>Ttt p.L511F TRPC1_ENST00000476941.1_Missense_Mutation_p.L545F NM_003304.4 NP_003295.1 P48995 TRPC1_HUMAN transient receptor potential cation channel, subfamily C, member 1 545 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity p.L511I(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1) 37 TGGGATGTTTCTTCTTGTTTT 0.338000 9 55 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13906752 13906752 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:13906752G>A ENST00000279593.3 - 3 718 c.509C>T c.(508-510)tCt>tTt p.S170F NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 170 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGTGACGATAGAAAAGATGTA 0.463000 14 112 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168106707 168106707 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:168106707G>A ENST00000409195.1 + 9 8894 c.8805G>A c.(8803-8805)cgG>cgA p.R2935R XIRP2_ENST00000295237.9_Silent_p.R2935R|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.R2713R|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2760 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AATCCCAGCGGGATGATGGAA 0.383000 11 91 0 0 1 0 0 SMARCC1 6599 broad.mit.edu 37 3 47814372 47814372 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:47814372G>A ENST00000254480.5 - 2 369 c.250C>T c.(250-252)Ctt>Ttt p.L84F SMARCC1_ENST00000425518.1_5'UTR NM_003074.3 NP_003065.3 Q92922 SMRC1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 84 chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) AACTGAAGAAGCTGCACCACC 0.463000 12 74 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94044562 94044562 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:94044562C>T ENST00000297268.6 + 30 2215 c.1744C>T c.(1744-1746)Cct>Tct p.P582S NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 582 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GTTTGGTCTCCCTGGTCCTGC 0.363000 HNSCC(75;0.22) 36 175 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237777717 237777717 + Silent SNP T T C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:237777717T>C ENST00000366574.2 + 37 5606 c.5289T>C c.(5287-5289)ttT>ttC p.F1763F RYR2_ENST00000360064.6_Silent_p.F1761F|RYR2_ENST00000542537.1_Silent_p.F1747F NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1763 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGATGCAGTTTTCCTCCCCCA 0.512000 8 71 0 0 1 0 0 SYT1 6857 broad.mit.edu 37 12 79685854 79685854 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:79685854G>A ENST00000261205.4 + 6 1075 c.418G>A c.(418-420)Gag>Aag p.E140K SYT1_ENST00000552744.1_Missense_Mutation_p.E140K|SYT1_ENST00000457153.2_Missense_Mutation_p.E137K|SYT1_ENST00000393240.3_Missense_Mutation_p.E140K NM_005639.2 NP_005630.1 P21579 SYT1_HUMAN synaptotagmin I 140 Phospholipid binding (Probable). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 ACCCAAAGAAGAGGAGAAACT 0.373000 5 35 0 0 1 0 0 SLC5A6 8884 broad.mit.edu 37 2 27425705 27425705 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:27425705G>A ENST00000310574.3 - 12 1724 c.1251C>T c.(1249-1251)tcC>tcT p.S417S SLC5A6_ENST00000461319.1_5'UTR|SLC5A6_ENST00000408041.1_Silent_p.S417S NM_021095.2 NP_066918.2 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6 417 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) CCATCTGGGAGGAAATATAGG 0.468000 11 188 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100551377 100551377 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:100551377G>A ENST00000319509.7 + 1 128 c.128G>A c.(127-129)cGa>cAa p.R43Q mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 ACAAGCCTACGAACTCTCACC 0.502000 22 110 0 0 1 0 0 PTPN22 26191 broad.mit.edu 37 1 114372637 114372637 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:114372637G>A ENST00000359785.5 - 17 2203 c.2068C>T c.(2068-2070)Cgt>Tgt p.R690C PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.R690C|PTPN22_ENST00000538253.1_Missense_Mutation_p.R446C|PTPN22_ENST00000528414.1_Missense_Mutation_p.R635C|PTPN22_ENST00000525799.1_Missense_Mutation_p.R563C NM_001193431.1|NM_015967.5 NP_001180360.1|NP_057051.3 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 690 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GGAGAAGAACGATCTTGATGT 0.358000 5 60 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137814023 137814023 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:137814023C>T ENST00000409968.1 + 3 351 c.173C>T c.(172-174)cCc>cTc p.P58L THSD7B_ENST00000413152.2_Missense_Mutation_p.P27L|THSD7B_ENST00000272643.3_Missense_Mutation_p.P58L thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GACTGTGGTCCCGGAGGAGTC 0.493000 7 59 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111672892 111672892 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:111672892G>A ENST00000435970.1 - 21 7869 c.7053C>T c.(7051-7053)atC>atT p.I2351I REV3L_ENST00000358835.3_Silent_p.I2429I|REV3L_ENST00000368805.1_Silent_p.I2429I|REV3L_ENST00000368802.3_Silent_p.I2429I O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 2429 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) GCACCCGAGAGATCATCCGAC 0.388000 DNA polymerases (catalytic subunits) 15 45 0 0 1 0 0 OR2J3 442186 broad.mit.edu 37 6 29079798 29079798 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:29079798G>A ENST00000377169.1 + 1 131 c.131G>A c.(130-132)gGa>gAa p.G44E NM_001005216.2 NP_001005216.2 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, member 3 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 ACACTGATAGGAAACCTGTTC 0.413000 39 206 0 0 1 0 0 CYP4A11 1579 broad.mit.edu 37 1 47400173 47400173 + Nonsense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:47400173G>A ENST00000457840.2 - 6 685 c.382C>T c.(382-384)Caa>Taa p.Q128* CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371905.1_Silent_p.I283I|CYP4A11_ENST00000371904.4_Silent_p.I284I|CYP4A11_ENST00000310638.4_Silent_p.I283I Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 0 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) TCTTCCTCTTGATCTTCTCCA 0.493000 12 133 0 0 1 0 0 DNER 92737 broad.mit.edu 37 2 230377642 230377642 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:230377642G>A ENST00000341772.4 - 6 1138 c.1004C>T c.(1003-1005)tCc>tTc p.S335F NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 335 EGF-like 3. central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) ACAGGTACAGGAAAAAGTTGC 0.438000 3 22 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110861212 110861212 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr13:110861212C>T ENST00000375820.4 - 12 798 c.677G>A c.(676-678)gGa>gAa p.G226E COL4A1_ENST00000543140.1_Missense_Mutation_p.G226E NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 226 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) ACCTTTTGGTCCTTGAAAACT 0.413000 11 136 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9360725 9360725 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr20:9360725G>A ENST00000378501.2 + 10 784 c.769G>A c.(769-771)Gaa>Aaa p.E257K PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.E257K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E257K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E257K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E257K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E257K NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 257 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TCGATTGAATGAAATTTTATT 0.308000 7 35 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144942557 144942557 + Missense_Mutation SNP T T C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:144942557T>C ENST00000525985.1 - 2 4936 c.4865A>G c.(4864-4866)aAg>aGg p.K1622R P58107 EPIPL_HUMAN epiplakin 1 1622 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CACGGTCAGCTTCCGGTTCTC 0.647000 31 68 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80136773 80136773 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:80136773C>T ENST00000466387.1 + 11 1630 c.906C>T c.(904-906)tcC>tcT p.S302S CTNNA2_ENST00000540488.1_Silent_p.S302S|CTNNA2_ENST00000496558.1_Silent_p.S302S|CTNNA2_ENST00000402739.4_Silent_p.S302S|CTNNA2_ENST00000361291.4_Silent_p.S336S|CTNNA2_ENST00000541047.1_Silent_p.S302S P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 302 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 TCCGGCCGTCCCTGGAGGAGA 0.592000 8 83 0 0 1 0 0 TEFM 79736 broad.mit.edu 37 17 29226332 29226332 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:29226332G>A ENST00000581216.1 - 4 1559 c.938C>T c.(937-939)cCt>cTt p.P313L TEFM_ENST00000580840.1_3'UTR NM_024683.3 NP_078959.3 Q96QE5 TEFM_HUMAN transcription elongation factor, mitochondrial 313 oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter mitochondrial nucleoid|ribonucleoprotein complex DNA polymerase processivity factor activity|nucleic acid binding|protein binding GAACACCCGAGGATCCGCCTT 0.403000 9 72 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73537628 73537628 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:73537628C>T ENST00000224721.6 + 38 5057 c.5052C>T c.(5050-5052)atC>atT p.I1684I NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1679 Cadherin 16. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CAGGCAACATCGTCAACACCT 0.572000 10 46 0 0 1 0 0 PRPS1L1 221823 broad.mit.edu 37 7 18066766 18066766 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:18066766G>A ENST00000506618.2 - 1 720 c.640C>T c.(640-642)Cgt>Tgt p.R214C NM_175886.2 NP_787082.1 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 1 214 Binding of phosphoribosylpyrophosphate (Potential). nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3) 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) ATAGCCACACGATCATTCACA 0.453000 23 130 0 0 1 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49364934 49364934 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:49364934G>A ENST00000263265.6 - 4 763 c.208C>T c.(208-210)Cgt>Tgt p.R70C PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R70C NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 70 PH. cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) TTCCAGAGACGGAGCCCCGAG 0.617000 5 41 0 0 1 0 0 KNTC1 9735 broad.mit.edu 37 12 123030766 123030766 + Missense_Mutation SNP C C G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:123030766C>G ENST00000333479.7 + 9 890 c.713C>G c.(712-714)tCc>tGc p.S238C KNTC1_ENST00000450485.2_Missense_Mutation_p.S201C NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 238 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) CCAGATTCTTCCAAGAAAGGA 0.323000 3 32 0 0 1 0 0 OR8K1 390157 broad.mit.edu 37 11 56113940 56113940 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:56113940G>A ENST00000279783.2 + 1 520 c.426G>A c.(424-426)atG>atA p.M142I NM_001002907.1 NP_001002907.1 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, member 1 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Esophageal squamous(21;0.00448) TGATCATCATGGCAGAGAAAG 0.393000 HNSCC(65;0.19) 14 213 0 0 1 0 0 SARS 6301 broad.mit.edu 37 1 109778669 109778669 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:109778669C>T ENST00000369923.4 + 8 1051 c.1040C>T c.(1039-1041)aCc>aTc p.T347I SARS_ENST00000234677.2_Missense_Mutation_p.T347I P49591 SYSC_HUMAN seryl-tRNA synthetase 347 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|protein binding|RNA binding|serine-tRNA ligase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 17 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) ATGATTACCACCGCAGAGGAG 0.488000 16 90 0 0 1 0 0 ZNF419 79744 broad.mit.edu 37 19 58004500 58004500 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:58004500G>A ENST00000424930.2 + 5 807 c.578G>A c.(577-579)aGt>aAt p.S193N ZNF419_ENST00000426954.2_Missense_Mutation_p.S180N|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000347466.6_Missense_Mutation_p.S160N|ZNF419_ENST00000221735.7_Missense_Mutation_p.S192N|ZNF419_ENST00000415379.2_Missense_Mutation_p.S146N|ZNF419_ENST00000354197.4_Missense_Mutation_p.S180N|ZNF419_ENST00000442920.2_Missense_Mutation_p.S179N NM_001098491.1|NM_024691.3 NP_001091961.1|NP_078967.3 Q96HQ0 ZN419_HUMAN zinc finger protein 419 192 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) AGCTCCAAAAGTAGGGAGGCC 0.478000 4 33 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195493607 195493607 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:195493607G>A ENST00000463781.3 - 8 14004 c.13545C>T c.(13543-13545)ttC>ttT p.F4515F MUC4_ENST00000349607.4_Silent_p.F228F|MUC4_ENST00000475231.1_Silent_p.F4463F|MUC4_ENST00000346145.4_Silent_p.F279F NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1272 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.F4387F(1)|p.F279F(1)|p.F4515F(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GGCTGTTTTCGAAATAGCCAT 0.547000 18 68 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129147349 129147349 + Missense_Mutation SNP G G T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:129147349G>T ENST00000540052.1 + 3 645 c.601G>T c.(601-603)Gcc>Tcc p.A201S BCORL1_ENST00000218147.7_Missense_Mutation_p.A201S|BCORL1_ENST00000303743.5_Missense_Mutation_p.A201S|BCORL1_ENST00000359304.2_Missense_Mutation_p.A201S NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 201 Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 TCCTCTGCCAGCCCCTATCTG 0.587000 55 78 2.23399e-28 2.28352e-28 1 1 0 HIVEP1 3096 broad.mit.edu 37 6 12164439 12164439 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:12164439C>T ENST00000379388.2 + 9 8234 c.7902C>T c.(7900-7902)gaC>gaT p.D2634D HIVEP1_ENST00000541134.1_Silent_p.D499D NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 2634 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GTAAAATGGACACAGAGAAGG 0.537000 12 54 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 3078995 3078995 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:3078995G>A ENST00000397461.1 + 17 2459 c.2075G>A c.(2074-2076)cGg>cAg p.R692Q CNTN4_ENST00000358480.3_Missense_Mutation_p.R473Q|CNTN4_ENST00000397459.2_Missense_Mutation_p.R364Q|CNTN4_ENST00000418658.1_Missense_Mutation_p.R692Q|CNTN4_ENST00000448906.2_Missense_Mutation_p.R364Q|CNTN4_ENST00000427331.1_Missense_Mutation_p.R692Q NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 692 Fibronectin type-III 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TCAGAGAAACGGAGAACAGAA 0.522000 52 234 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3241328 3241328 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:3241328C>T ENST00000217939.6 - 5 2552 c.2398G>A c.(2398-2400)Gaa>Aaa p.E800K NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 800 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GGGGGTACTTCTGTGCCCTTA 0.468000 31 68 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89392838 89392838 + RNA SNP A A C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:89392838A>C ENST00000532352.1 + 0 661 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 GCGTGGAAATATCCTAAATCT 0.463000 8 71 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 6030283 6030283 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:6030283C>T ENST00000546188.1 - 3 516 c.445G>A c.(445-447)Gag>Aag p.E149K ANO2_ENST00000327087.8_Missense_Mutation_p.E149K|ANO2_ENST00000356134.5_Missense_Mutation_p.E149K Q9NQ90 ANO2_HUMAN anoctamin 2 153 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 TTCCTCTCCTCCTCCAGGGCA 0.617000 24 83 0 0 1 0 0 SLC15A3 51296 broad.mit.edu 37 11 60707011 60707011 + Nonsense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:60707011C>T ENST00000227880.3 - 6 1609 c.1376G>A c.(1375-1377)tGg>tAg p.W459* NM_016582.2 NP_057666.1 Q8IY34 S15A3_HUMAN solute carrier family 15 (oligopeptide transporter), member 3 459 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2) 17 GATCTGCCACCAGATGGACAG 0.587000 13 40 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100679405 100679405 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:100679405G>A ENST00000306151.4 + 3 4772 c.4708G>A c.(4708-4710)Gaa>Aaa p.E1570K NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1570 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AACTTATAGTGAAGGAAGCAC 0.483000 76 365 0 0 1 0 0 FBXO18 84893 broad.mit.edu 37 10 5937086 5937086 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:5937086C>T ENST00000379999.5 + 2 194 c.90C>T c.(88-90)ggC>ggT p.G30G FBXO18_ENST00000397269.3_Intron|FBXO18_ENST00000470089.1_Intron|FBXO18_ENST00000362091.4_Intron NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 0 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 GGCCCCTGGGCCATCTCCACA 0.552000 12 69 0 0 1 0 0 TCL1A 8115 broad.mit.edu 37 14 96180332 96180332 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr14:96180332G>A ENST00000402399.1 - 1 201 c.72C>T c.(70-72)ttC>ttT p.F24F RP11-164H13.1_ENST00000553445.1_RNA|TCL1A_ENST00000554012.1_Silent_p.F24F|RP11-164H13.1_ENST00000547644.2_RNA|TCL1A_ENST00000556450.1_Silent_p.F24F|TCL1A_ENST00000555202.1_Silent_p.F24F NM_021966.2 NP_068801.1 P56279 TCL1A_HUMAN T-cell leukemia/lymphoma 1A 24 multicellular organismal development endoplasmic reticulum|microsome haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) CCAAATACACGAACTTCTCCC 0.657000 T TRA@ T-CLL 24 103 0 0 1 0 0 MCU 90550 broad.mit.edu 37 10 74644032 74644032 + Silent SNP T T A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:74644032T>A ENST00000536019.1 + 7 1168 c.723T>A c.(721-723)gtT>gtA p.V241V MCU_ENST00000357157.6_Silent_p.V269V|MCU_ENST00000605416.1_3'UTR|MCU_ENST00000373053.3_Silent_p.V290V NM_001270680.1 NP_001257609.1 Q8NE86 MCU_HUMAN mitochondrial calcium uniporter 290 elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization integral to membrane|mitochondrial inner membrane protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1) 14 AGGAATATGTTTATCCAGAAG 0.323000 14 49 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38690878 38690878 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:38690878C>T ENST00000449981.2 + 2 402 c.293C>T c.(292-294)tCg>tTg p.S98L dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TCAGTGATTTCGGAAGTGCTG 0.502000 21 85 0 0 1 0 0 GAB2 9846 broad.mit.edu 37 11 77936242 77936242 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:77936242G>A ENST00000361507.4 - 5 1299 c.1214C>T c.(1213-1215)tCc>tTc p.S405F GAB2_ENST00000340149.2_Missense_Mutation_p.S367F NM_080491.2 NP_536739.1 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 405 osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) GGTCTCACAGGAAGAAGCTGA 0.507000 10 73 0 0 1 0 0 ACOXL 55289 broad.mit.edu 37 2 111666393 111666393 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:111666393G>A ENST00000389811.4 + 11 1040 c.816G>A c.(814-816)aaG>aaA p.K272K ACOXL_ENST00000439055.1_Silent_p.K272K Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like 272 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 CCAAAACCAAGGAAGAGGTGA 0.532000 9 81 0 0 1 0 0 XRN1 54464 broad.mit.edu 37 3 142030480 142030480 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:142030480G>A ENST00000264951.4 - 42 5111 c.4994C>T c.(4993-4995)tCt>tTt p.S1665F XRN1_ENST00000392981.2_Missense_Mutation_p.S1653F NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 1665 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding p.S1665Y(1) NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 AACTTGAAAAGAAGATGCAGG 0.423000 19 96 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183714469 183714469 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr4:183714469G>A ENST00000511685.1 + 26 6767 c.6644G>A c.(6643-6645)cGa>cAa p.R2215Q TENM3_ENST00000406950.2_Missense_Mutation_p.R2215Q teneurin transmembrane protein 3 CTTCTAACTCGAGTTTACAGT 0.483000 11 44 0 0 1 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22202128 22202128 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:22202128C>T ENST00000344041.6 - 13 1168 c.856G>A c.(856-858)Gaa>Aaa p.E286K RAPGEF5_ENST00000401957.2_Missense_Mutation_p.E136K NM_012294.3 NP_036426.3 Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 136 nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 TCTGAGTTTTCCTCTTTGCCT 0.348000 5 47 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38851670 38851670 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:38851670G>A ENST00000359357.3 + 54 7758 c.7504G>A c.(7504-7506)Gtg>Atg p.V2502M DNAH8_ENST00000441566.1_Missense_Mutation_p.V2466M|DNAH8_ENST00000449981.2_Missense_Mutation_p.V2719M dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TGAAAGCTACGTGGATAAGCG 0.363000 16 94 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142658447 142658447 + Splice_Site SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:142658447G>A ENST00000355265.2 - 3 697 c.223_splice c.e3+1 p.R75_splice KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 75 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) TCTTGCTTACGAGGGCCACAG 0.597000 13 97 0 0 1 0 0 MBD4 8930 broad.mit.edu 37 3 129156739 129156739 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:129156739C>T ENST00000429544.2 - 2 354 c.159G>A c.(157-159)atG>atA p.M53I MBD4_ENST00000249910.1_Missense_Mutation_p.M53I|MBD4_ENST00000509587.1_5'UTR|MBD4_ENST00000507208.1_Missense_Mutation_p.M53I|MBD4_ENST00000503197.1_Missense_Mutation_p.M53I|MBD4_ENST00000393278.2_Missense_Mutation_p.M53I NM_001276270.1 NP_001263199.1 O95243 MBD4_HUMAN methyl-CpG binding domain protein 4 53 depyrimidination nucleoplasm DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1) 22 TTTTTATCATCATTTGTTCCT 0.383000 Base excision repair (BER), DNA glycosylases 33 171 0 0 1 0 0 OR51I1 390063 broad.mit.edu 37 11 5462722 5462722 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:5462722G>A ENST00000380211.1 - 1 22 c.23C>T c.(22-24)cCc>cTc p.P8L AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron NM_001005288.2 NP_001005288.1 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, member 1 8 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGCTGGAAGGGGGTGCCATT 0.502000 13 110 0 0 1 0 0 SLC26A11 284129 broad.mit.edu 37 17 78199645 78199645 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:78199645G>A ENST00000361193.3 + 6 803 c.523G>A c.(523-525)Gga>Aga p.G175R SLC26A11_ENST00000546047.2_Missense_Mutation_p.G175R|SLC26A11_ENST00000572725.1_Missense_Mutation_p.G175R|SLC26A11_ENST00000411502.3_Missense_Mutation_p.G175R NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 175 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GAACCTGCTGGGACTACAGAA 0.582000 53 163 0 0 1 0 0 NECAP1 25977 broad.mit.edu 37 12 8242619 8242619 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:8242619G>A ENST00000339754.5 + 2 261 c.183G>A c.(181-183)gaG>gaA p.E61E NM_015509.3 NP_056324.2 Q8NC96 NECP1_HUMAN NECAP endocytosis associated 1 61 endocytosis|protein transport clathrin coated vesicle membrane|plasma membrane cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Kidney(36;0.0915) TCAAACTCGAGGATAAAGTTT 0.428000 14 102 0 0 1 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77912865 77912865 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:77912865G>A ENST00000321110.1 - 2 1348 c.1053C>T c.(1051-1053)aaC>aaT p.N351N NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 351 nucleic acid binding|zinc ion binding p.N351K(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 TTTCATCCCAGTTCAGCTCTT 0.478000 14 30 0 0 1 0 0 CATSPERG 57828 broad.mit.edu 37 19 38860889 38860889 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:38860889C>T ENST00000409235.3 + 28 3319 c.3204C>T c.(3202-3204)ttC>ttT p.F1068F CATSPERG_ENST00000410018.1_Silent_p.F1028F|CATSPERG_ENST00000215069.4_3'UTR NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 1068 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 GGGCCCTTTTCATCATCATGG 0.587000 11 37 0 0 1 0 0 GPR4 2828 broad.mit.edu 37 19 46094957 46094957 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:46094957C>T ENST00000323040.4 - 2 1112 c.168G>A c.(166-168)ctG>ctA p.L56L OPA3_ENST00000544371.1_Intron NM_005282.2 NP_005273.1 P46093 GPR4_HUMAN G protein-coupled receptor 4 56 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) TGAGGTTCATCAGGTAGACGC 0.632000 30 78 0 0 1 0 0 HTRA3 94031 broad.mit.edu 37 4 8293230 8293230 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr4:8293230G>A ENST00000307358.2 + 4 1046 c.842G>A c.(841-843)gGc>gAc p.G281D HTRA3_ENST00000382512.3_Missense_Mutation_p.G281D NM_053044.3 NP_444272.1 P83110 HTRA3_HUMAN HtrA serine peptidase 3 281 Serine protease. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1) 18 CAGCGGGAGGGCAGGGAGCTG 0.652000 7 22 0 0 1 0 0 ATG2B 55102 broad.mit.edu 37 14 96772123 96772123 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr14:96772123G>A ENST00000359933.4 - 31 5429 c.4536C>T c.(4534-4536)atC>atT p.I1512I ATG2B_ENST00000261834.5_5'UTR NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1512 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) CATCAACCATGATTTTTATAA 0.368000 12 35 0 0 1 0 0 ABL1 25 broad.mit.edu 37 9 133760200 133760200 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:133760200C>T ENST00000318560.5 + 11 2904 c.2523C>T c.(2521-2523)gcC>gcT p.A841A NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 841 Pro-rich. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) AGGGCAGTGCCTTAGGGACCC 0.687000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 7 31 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40687408 40687408 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:40687408C>T ENST00000298910.7 + 21 2809 c.2751C>T c.(2749-2751)taC>taT p.Y917Y LRRK2_ENST00000343742.2_Silent_p.Y917Y NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 917 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) GAGAATTTTACCGAGATGCCG 0.333000 5 49 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39229653 39229653 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:39229653G>A ENST00000340369.3 - 2 1512 c.1284C>T c.(1282-1284)gcC>gcT p.A428A XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.A428A NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 428 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CCCTCTGGGGGGCACTCTGAG 0.557000 68 232 0 0 1 0 0 MASP1 5648 broad.mit.edu 37 3 186953605 186953605 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:186953605G>A ENST00000296280.6 - 11 2279 c.2054C>T c.(2053-2055)tCc>tTc p.S685F MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Missense_Mutation_p.S572F NM_139125.3 NP_624302.1 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 667 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) TCCCCCCCAGGACACCAGGCC 0.572000 10 48 0 0 1 0 0 SLC14A2 8170 broad.mit.edu 37 18 43224018 43224018 + Missense_Mutation SNP A A T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr18:43224018A>T ENST00000255226.6 + 10 2060 c.1244A>T c.(1243-1245)aAc>aTc p.N415I SLC14A2_ENST00000586448.1_Missense_Mutation_p.N415I NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 415 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CTGACGACAAACAACCCAGCC 0.552000 43 135 0 0 1 0 0 SLC2A4RG 56731 broad.mit.edu 37 20 62374338 62374338 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr20:62374338G>A ENST00000266077.2 + 8 1211 c.1159G>A c.(1159-1161)Gac>Aac p.D387N SLC2A4RG_ENST00000493772.1_3'UTR NM_020062.3 NP_064446.2 Q9NR83 S2A4R_HUMAN SLC2A4 regulator 387 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1) 7 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) GCGGTTCCTGGACTAAGTCCG 0.657000 5 13 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111158773 111158773 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr13:111158773C>T ENST00000360467.5 + 46 4720 c.4414C>T c.(4414-4416)Cgt>Tgt p.R1472C COL4A2-AS1_ENST00000417970.2_RNA NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1472 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) TGCACCAGGCCGTCCAGGGAG 0.672000 4 24 0 0 1 0 0 GTPBP10 85865 broad.mit.edu 37 7 90014223 90014223 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:90014223G>A ENST00000222511.6 + 10 985 c.919G>A c.(919-921)Gaa>Aaa p.E307K GTPBP10_ENST00000257659.8_Missense_Mutation_p.E228K NM_033107.3 NP_149098.2 A4D1E9 GTPBA_HUMAN GTP-binding protein 10 (putative) 307 ribosome biogenesis chromosome|nucleolus GTP binding|GTPase activity|magnesium ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(4) 10 GCATTTATTTGAAAAAAACAT 0.328000 9 48 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75301980 75301980 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr14:75301980G>A ENST00000325680.7 + 20 6431 c.6307G>A c.(6307-6309)Gac>Aac p.D2103N YLPM1_ENST00000552421.1_Missense_Mutation_p.D1397N NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 1908 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CAGATGGGCAGACCTGGAAGA 0.468000 11 56 0 0 1 0 0 ZMYND8 23613 broad.mit.edu 37 20 45853043 45853043 + Nonsense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr20:45853043C>T ENST00000311275.7 - 19 3376 c.3123G>A c.(3121-3123)tgG>tgA p.W1041* ZMYND8_ENST00000540497.1_Nonsense_Mutation_p.W989*|ZMYND8_ENST00000352431.2_Nonsense_Mutation_p.W1015*|ZMYND8_ENST00000536340.1_Nonsense_Mutation_p.W1068*|ZMYND8_ENST00000355972.4_Nonsense_Mutation_p.W1041*|ZMYND8_ENST00000471951.2_Nonsense_Mutation_p.W1061*|ZMYND8_ENST00000461685.1_Nonsense_Mutation_p.W1015*|ZMYND8_ENST00000396281.4_Nonsense_Mutation_p.W1041*|ZMYND8_ENST00000458360.2_Nonsense_Mutation_p.W909*|ZMYND8_ENST00000446994.2_Nonsense_Mutation_p.W932*|ZMYND8_ENST00000360911.3_Nonsense_Mutation_p.W990*|ZMYND8_ENST00000372023.3_Nonsense_Mutation_p.W963*|ZMYND8_ENST00000262975.4_Nonsense_Mutation_p.W995* Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 1041 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) AGCTAGTGTTCCAACAGCAGT 0.572000 52 193 0 0 1 0 0 CNTF 1270 broad.mit.edu 37 11 58391897 58391897 + Missense_Mutation SNP A A G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:58391897A>G ENST00000361987.4 + 2 585 c.505A>G c.(505-507)Aca>Gca p.T169A ZFP91-CNTF_ENST00000389919.4_3'UTR NM_000614.3 NP_000605.1 P26441 CNTF_HUMAN ciliary neurotrophic factor 169 ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1) 10 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) TTCACAGTGGACAGTAAGGTC 0.478000 8 88 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94044561 94044561 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:94044561C>T ENST00000297268.6 + 30 2214 c.1743C>T c.(1741-1743)ctC>ctT p.L581L NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 581 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) AGTTTGGTCTCCCTGGTCCTG 0.358000 HNSCC(75;0.22) 36 173 0 0 1 0 0 SMG8 55181 broad.mit.edu 37 17 57287821 57287821 + Missense_Mutation SNP C C T rs147794106 by1000genomes TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:57287821C>T ENST00000543872.2 + 2 673 c.409C>T c.(409-411)Ctt>Ttt p.L137F SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.L137F|SMG8_ENST00000578922.1_Missense_Mutation_p.L137F|CTD-2510F5.6_ENST00000577660.1_Intron Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 137 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 GGACTACAGCCTTCTGCAGGC 0.582000 9 24 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193209121 193209121 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:193209121C>T ENST00000342695.4 - 6 922 c.600G>A c.(598-600)aaG>aaA p.K200K ATP13A4_ENST00000295548.3_Silent_p.K200K|ATP13A4_ENST00000392443.3_Silent_p.K200K NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 200 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) AAATTACCTCCTTGATGAGCA 0.363000 23 98 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71892430 71892430 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:71892430G>A ENST00000258104.3 + 46 5473 c.5196G>A c.(5194-5196)gaG>gaA p.E1732E DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Silent_p.E1750E|DYSF_ENST00000413539.2_Silent_p.E1763E|DYSF_ENST00000409582.3_Silent_p.E1770E|DYSF_ENST00000410020.3_Silent_p.E1771E|DYSF_ENST00000409744.1_Silent_p.E1740E|DYSF_ENST00000409762.1_Silent_p.E1749E|DYSF_ENST00000394120.2_Silent_p.E1733E|DYSF_ENST00000409651.1_Silent_p.E1764E|DYSF_ENST00000429174.2_Silent_p.E1753E|DYSF_ENST00000409366.1_Silent_p.E1754E NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1732 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 CCATTGAAGAGATAGGTGAGC 0.522000 13 81 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55534024 55534024 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:55534024G>A ENST00000220676.1 + 2 646 c.498G>A c.(496-498)acG>acA p.T166T NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 166 Doublecortin 2. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ACCCGAAGACGAGGCGTGCGG 0.647000 27 165 0 0 1 0 0 PRSS38 339501 broad.mit.edu 37 1 228033180 228033180 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:228033180C>T ENST00000366757.3 + 4 617 c.593C>T c.(592-594)tCa>tTa p.S198L NM_183062.2 NP_898885.1 A1L453 PRS38_HUMAN protease, serine, 38 198 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GGTGAGACCTCAGACGAGCTG 0.642000 3 28 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63175092 63175092 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr14:63175092G>A ENST00000322893.7 - 11 2369 c.2101C>T c.(2101-2103)Ccc>Tcc p.P701S KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 701 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TGGTCCACGGGAATGCTGAGG 0.532000 38 122 0 0 1 0 0 ABCG4 64137 broad.mit.edu 37 11 119029407 119029407 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:119029407C>T ENST00000307417.3 + 11 1672 c.1308C>T c.(1306-1308)ttC>ttT p.F436F ABCG4_ENST00000449422.2_Silent_p.F436F|ABCG4_ENST00000531739.1_Silent_p.F436F NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 436 ABC transmembrane type-2. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) TCCTCATGTTCGCCGCCCTCA 0.627000 9 76 0 0 1 0 0 TRIP12 9320 broad.mit.edu 37 2 230683105 230683105 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:230683105G>A ENST00000283943.5 - 8 1608 c.1430C>T c.(1429-1431)cCt>cTt p.P477L TRIP12_ENST00000389045.3_Missense_Mutation_p.P180L|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.P525L NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 477 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) ACTCTTGACAGGAAACCCTCC 0.428000 17 136 0 0 1 0 0 HEG1 57493 broad.mit.edu 37 3 124729387 124729387 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:124729387G>A ENST00000311127.4 - 7 3036 c.2969C>T c.(2968-2970)gCt>gTt p.A990V NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 990 EGF-like 1. extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 AGGGTTCACAGCACAGCTGTT 0.483000 4 5 0 0 1 0 0 FAM76A 199870 broad.mit.edu 37 1 28075619 28075619 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:28075619C>T ENST00000373954.6 + 6 655 c.553C>T c.(553-555)Cca>Tca p.P185S FAM76A_ENST00000530324.1_Missense_Mutation_p.P185S|FAM76A_ENST00000419687.2_Intron|FAM76A_ENST00000234549.7_Intron|FAM76A_ENST00000010299.6_Missense_Mutation_p.P219S|FAM76A_ENST00000373949.1_Intron NM_001143912.1|NM_152660.2 NP_001137384.1|NP_689873.1 Q8TAV0 FA76A_HUMAN family with sequence similarity 76, member A 185 endometrium(4)|kidney(2)|large_intestine(1)|lung(2) 9 Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649) AAATGAAATCCCAAAGAAAAA 0.358000 5 59 0 0 1 0 0 ZIM2 23619 broad.mit.edu 37 19 57286151 57286151 + Nonsense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:57286151G>A ENST00000391708.3 - 12 2031 c.1489C>T c.(1489-1491)Cag>Tag p.Q497* ZIM2_ENST00000601070.1_Nonsense_Mutation_p.Q497*|ZIM2_ENST00000599935.1_Nonsense_Mutation_p.Q497*|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Nonsense_Mutation_p.Q497*|ZIM2_ENST00000221722.5_Nonsense_Mutation_p.Q497* NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 zinc finger, imprinted 2 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) CCACATAGCTGACACTGGTAA 0.458000 5 57 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24359078 24359078 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:24359078C>T ENST00000175238.6 + 20 2280 c.2197C>T c.(2197-2199)Cat>Tat p.H733Y ADAM7_ENST00000380789.1_Missense_Mutation_p.H733Y|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.H505Y|RP11-624C23.1_ENST00000523578.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 733 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) GCCAGAAATTCATTTCCTAAA 0.388000 23 61 0 0 1 0 0 TARBP1 6894 broad.mit.edu 37 1 234534127 234534127 + Splice_Site SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:234534127C>T ENST00000040877.1 - 26 4243 c.e26+1 TARBP1_ENST00000483404.1_Intron NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) TTATTTTTTACCTATGTCTTG 0.328000 7 53 0 0 1 0 0 CDYL2 124359 broad.mit.edu 37 16 80646596 80646596 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:80646596G>A ENST00000299564.8 - 5 1300 c.1145C>T c.(1144-1146)cCc>cTc p.P382L CDYL2_ENST00000563890.1_Missense_Mutation_p.P383L|CDYL2_ENST00000566173.1_Missense_Mutation_p.P383L|CDYL2_ENST00000562812.1_Missense_Mutation_p.P383L NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 382 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 GGTGGCGTAGGGCGTCTGGAA 0.652000 17 67 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25451426 25451426 + RNA SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr15:25451426C>T ENST00000424208.1 + 0 2384 SNORD115-20_ENST00000365099.1_RNA|SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 TGATGAGAACCTTATATTGTC 0.502000 64 352 0 0 1 0 0 VSNL1 7447 broad.mit.edu 37 2 17773479 17773479 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:17773479G>A ENST00000406397.1 + 2 663 c.138G>A c.(136-138)gaG>gaA p.E46E VSNL1_ENST00000404666.2_Silent_p.E46E|VSNL1_ENST00000295156.4_Silent_p.E46E P62760 VISL1_HUMAN visinin-like 1 46 EF-hand 1. calcium ion binding NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TAAATCTCGAGGAATTTCAGC 0.433000 19 151 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152730297 152730297 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:152730297C>T ENST00000367255.5 - 44 7047 c.6446G>A c.(6445-6447)gGa>gAa p.G2149E SYNE1_ENST00000341594.5_Missense_Mutation_p.G2186E|SYNE1_ENST00000265368.4_Missense_Mutation_p.G2149E|SYNE1_ENST00000423061.1_Missense_Mutation_p.G2156E|SYNE1_ENST00000448038.1_Missense_Mutation_p.G2156E NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2149 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CAAGTGTTTTCCTTTGCTGGT 0.358000 HNSCC(10;0.0054) 9 50 0 0 1 0 0 MAGEB4 4115 broad.mit.edu 37 X 30260714 30260714 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:30260714C>T ENST00000378982.2 + 1 658 c.462C>T c.(460-462)gtC>gtT p.V154V NM_002367.3 NP_002358.1 O15481 MAGB4_HUMAN melanoma antigen family B, 4 154 MAGE. breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 TCAGGAAAGTCTCTCAGCGCA 0.493000 7 15 0 0 1 0 0 KIAA0319 9856 broad.mit.edu 37 6 24596654 24596654 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:24596654G>A ENST00000535378.1 - 4 863 c.221C>T c.(220-222)cCc>cTc p.P74L KIAA0319_ENST00000430948.2_Missense_Mutation_p.P38L|KIAA0319_ENST00000378214.3_Missense_Mutation_p.P83L|KIAA0319_ENST00000543707.1_Missense_Mutation_p.P83L|KIAA0319_ENST00000537886.1_Missense_Mutation_p.P83L NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 83 MANSC. negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 CTCTTTGTGGGGGCAGCTCAC 0.597000 15 52 0 0 1 0 0 GRIK4 2900 broad.mit.edu 37 11 120745847 120745847 + Splice_Site SNP G G T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:120745847G>T ENST00000527524.2 + 11 1346 c.e11-1 RP11-640N11.2_ENST00000505153.2_RNA|GRIK4_ENST00000438375.2_Splice_Site Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) CTCTTGGACAGGTAGAATTGG 0.468000 12 51 0.00185496 0.00186695 1 1 0 POU6F2 11281 broad.mit.edu 37 7 39379267 39379267 + Nonsense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:39379267C>T ENST00000518318.2 + 5 580 c.538C>T c.(538-540)Cag>Tag p.Q180* POU6F2_ENST00000403058.1_Nonsense_Mutation_p.Q180*|POU6F2_ENST00000559001.1_Nonsense_Mutation_p.Q172*|POU6F2_ENST00000517348.1_3'UTR P78424 PO6F2_HUMAN POU class 6 homeobox 2 180 Gln-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 CTCCCAGCTCcagcagctcca 0.597000 6 26 0 0 1 0 0 ESPL1 9700 broad.mit.edu 37 12 53663228 53663228 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:53663228C>T ENST00000257934.4 + 3 593 c.502C>T c.(502-504)Cgg>Tgg p.R168W ESPL1_ENST00000552462.1_Missense_Mutation_p.R168W NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 168 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 ATTTGCAGCTCGGCTGAAGGC 0.582000 9 118 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2676817 2676817 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:2676817C>T ENST00000399655.1 + 13 2017 c.1752C>T c.(1750-1752)ttC>ttT p.F584F CACNA1C_ENST00000402845.3_Silent_p.F584F|CACNA1C_ENST00000399637.1_Silent_p.F584F|CACNA1C_ENST00000399597.1_Silent_p.F584F|CACNA1C_ENST00000399641.1_Silent_p.F584F|CACNA1C_ENST00000399644.1_Silent_p.F584F|CACNA1C_ENST00000406454.3_Silent_p.F584F|CACNA1C_ENST00000480911.1_Silent_p.F584F|CACNA1C_ENST00000399617.1_Silent_p.F584F|CACNA1C_ENST00000399595.1_Silent_p.F584F|CACNA1C_ENST00000399638.1_Silent_p.F584F|CACNA1C_ENST00000399591.1_Silent_p.F584F|CACNA1C_ENST00000344100.3_Silent_p.F584F|CACNA1C_ENST00000399601.1_Silent_p.F584F|CACNA1C_ENST00000399603.1_Silent_p.F584F|CACNA1C_ENST00000399606.1_Silent_p.F584F|CACNA1C_ENST00000347598.4_Silent_p.F584F|CACNA1C_ENST00000399649.1_Silent_p.F584F|CACNA1C_ENST00000327702.7_Silent_p.F584F|CACNA1C_ENST00000399621.1_Silent_p.F584F|CACNA1C_ENST00000399629.1_Silent_p.F584F|CACNA1C_ENST00000399634.1_Silent_p.F584F|CACNA1C_ENST00000335762.5_Silent_p.F609F NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 584 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) AGGCCTACTTCGTGTCCCTCT 0.607000 6 26 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128477557 128477557 + Nonsense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:128477557C>T ENST00000325888.8 + 4 1066 c.805C>T c.(805-807)Cga>Tga p.R269* FLNC_ENST00000346177.6_Nonsense_Mutation_p.R269* NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 269 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TGCCCCTGTTCGATCCAAGCA 0.597000 20 90 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11733176 11733176 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:11733176G>A ENST00000381486.2 + 11 1920 c.1620G>A c.(1618-1620)aaG>aaA p.K540K GREB1_ENST00000234142.5_Silent_p.K540K NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 540 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TCGAGGGCAAGCTTGCCAAGA 0.662000 9 34 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720650 140720650 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:140720650C>T ENST00000394576.2 + 1 2112 c.2112C>T c.(2110-2112)ttC>ttT p.F704F PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGCGTCTTCCTGGCCTTCG 0.657000 20 179 0 0 1 0 0 SPAG1 6674 broad.mit.edu 37 8 101174522 101174522 + Missense_Mutation SNP A A C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:101174522A>C ENST00000388798.2 + 2 205 c.14A>C c.(13-15)gAt>gCt p.D5A SPAG1_ENST00000520643.1_Missense_Mutation_p.D5A|SPAG1_ENST00000520508.1_Missense_Mutation_p.D5A|SPAG1_ENST00000251809.3_Missense_Mutation_p.D5A NM_003114.4 NP_003105.2 Q07617 SPAG1_HUMAN sperm associated antigen 1 5 single fertilization cytoplasm GTP binding|hydrolase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) ACCACCAAAGATTATCCATCA 0.289000 8 34 0 0 1 0 0 POLR3C 10623 broad.mit.edu 37 1 145608125 145608125 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:145608125G>A ENST00000334163.3 - 4 732 c.572C>T c.(571-573)cCt>cTt p.P191L POLR3C_ENST00000369294.1_Missense_Mutation_p.P191L|POLR3C_ENST00000471254.1_5'UTR NM_006468.6 NP_006459.3 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide C (62kD) 191 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) GCTGAGTTTAGGAACCAGGTA 0.453000 25 136 0 0 1 0 0 C1orf177 163747 broad.mit.edu 37 1 55282703 55282703 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:55282703G>A ENST00000358193.3 + 9 1146 c.1092G>A c.(1090-1092)atG>atA p.M364I C1orf177_ENST00000371273.3_Missense_Mutation_p.M364I NM_152607.2 NP_689820.2 Q3ZCV2 CA177_HUMAN chromosome 1 open reading frame 177 364 breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2) 17 CCTGGCTGATGGAGACAAAGG 0.577000 16 63 0 0 1 0 0 ACSM4 341392 broad.mit.edu 37 12 7457003 7457003 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:7457003G>A ENST00000399422.4 + 1 124 c.76G>A c.(76-78)Gat>Aat p.D26N NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 26 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 CTTACACAAAGATCACCAGCT 0.463000 35 183 0 0 1 0 0 KCNMB2 10242 broad.mit.edu 37 3 178543421 178543421 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:178543421G>A ENST00000432997.1 + 3 454 c.102G>A c.(100-102)agG>agA p.R34R RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Silent_p.R34R|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000452583.1_Silent_p.R34R|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000358316.3_Silent_p.R34R NM_005832.3 NP_005823.1 Q9Y691 KCMB2_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 2 34 Ball and chain. detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction voltage-gated potassium channel complex calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 12 all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125) OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841) TGGACAAAAGGAAAACAGTCA 0.433000 28 197 0 0 1 0 0 MCMDC2 157777 broad.mit.edu 37 8 67786786 67786786 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:67786786C>T ENST00000422365.2 + 4 421 c.250C>T c.(250-252)Ctc>Ttc p.L84F MCMDC2_ENST00000396592.3_Missense_Mutation_p.L84F|MCMDC2_ENST00000313616.5_Missense_Mutation_p.L84F|MCMDC2_ENST00000492775.1_Missense_Mutation_p.L84F|MCMDC2_ENST00000469823.1_3'UTR|MCMDC2_ENST00000541540.1_Missense_Mutation_p.L21F NM_173518.4 NP_775789.3 Q4G0Z9 CH045_HUMAN minichromosome maintenance domain containing 2 84 DNA replication ATP binding|DNA binding endometrium(2)|kidney(2)|lung(5) 9 TGTTAAGACTCTCTCATTAAT 0.294000 8 18 0 0 1 0 0 TMPO 7112 broad.mit.edu 37 12 98938117 98938117 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:98938117C>T ENST00000556029.1 + 5 1129 c.773C>T c.(772-774)cCa>cTa p.P258L TMPO_ENST00000393053.2_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000548223.1_3'UTR NM_001032283.2 NP_001027454.1 P42167 LAP2B_HUMAN thymopoietin 258 Nucleoplasmic (Potential). integral to membrane|nuclear inner membrane DNA binding|lamin binding breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 AGAAGAACTCCAAGGAAAAGG 0.378000 12 97 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101505352 101505352 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:101505352G>A ENST00000392979.3 + 23 2570 c.2209G>A c.(2209-2211)Gga>Aga p.G737R ANO4_ENST00000299222.9_Missense_Mutation_p.G292R|ANO4_ENST00000392977.3_Missense_Mutation_p.G772R|ANO4_ENST00000550015.1_Missense_Mutation_p.G292R NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 772 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 AATTTGGTATGGAATTCTTGA 0.318000 HNSCC(74;0.22) 17 76 0 0 1 0 0 DZIP3 9666 broad.mit.edu 37 3 108330161 108330161 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:108330161C>T ENST00000361582.3 + 4 473 c.243C>T c.(241-243)tcC>tcT p.S81S DZIP3_ENST00000463306.1_Silent_p.S81S NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 81 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 AAGATTTTTCCTTCCAAACTA 0.323000 15 54 0 0 1 0 0 PRRT1 80863 broad.mit.edu 37 6 32119657 32119657 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:32119657C>T ENST00000375150.2 - 3 212 c.28G>A c.(28-30)Gcc>Acc p.A10T PRRT1_ENST00000211413.5_5'UTR|PRRT1_ENST00000375152.2_Missense_Mutation_p.A10T Q99946 PRRT1_HUMAN proline-rich transmembrane protein 1 93 response to biotic stimulus integral to membrane breast(2)|endometrium(1)|kidney(1)|lung(2) 6 GGGTCCTCGGCCGGTGCTGGA 0.677000 26 60 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106815200 106815200 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:106815200C>T ENST00000407775.2 + 8 3140 c.2890C>T c.(2890-2892)Cca>Tca p.P964S RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P695S|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P832S|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P832S NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 964 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TTTGTTTCTTCCACAATGCCT 0.413000 4 21 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30317348 30317348 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:30317348C>T ENST00000375377.1 - 3 1830 c.1729G>A c.(1729-1731)Gag>Aag p.E577K NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 577 p.E577*(1) breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 AATATAGTCTCGTTCATTTTT 0.418000 24 110 0 0 1 0 0 CHST1 8534 broad.mit.edu 37 11 45671937 45671937 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:45671937C>T ENST00000308064.2 - 4 1207 c.537G>A c.(535-537)ggG>ggA p.G179G NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 179 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) GCACACAGTCCCCCTCCTCCA 0.726000 5 59 0 0 1 0 0 TRIM11 81559 broad.mit.edu 37 1 228588893 228588893 + Splice_Site SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:228588893C>T ENST00000460651.1 - 2 37 c.e2-1 TRIM11_ENST00000366699.3_Silent_p.K169K|TRIM11_ENST00000493030.2_Silent_p.K44K|TRIM11_ENST00000284551.6_Silent_p.K169K Q96F44 TRI11_HUMAN tripartite motif containing 11 response to virus cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 18 Prostate(94;0.0724) TCTCCACCATCTTCTGTGGAG 0.652000 4 52 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152652694 152652694 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:152652694G>A ENST00000367255.5 - 78 13727 c.13126C>T c.(13126-13128)Cct>Tct p.P4376S SYNE1_ENST00000341594.5_Missense_Mutation_p.P4241S|SYNE1_ENST00000265368.4_Missense_Mutation_p.P4376S|SYNE1_ENST00000423061.1_Missense_Mutation_p.P4305S|SYNE1_ENST00000448038.1_Missense_Mutation_p.P4305S NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4376 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATATCTGGAGGAGGGCTCTGC 0.522000 HNSCC(10;0.0054) 13 45 0 0 1 0 0 NOBOX 135935 broad.mit.edu 37 7 144096266 144096266 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:144096266G>A ENST00000467773.1 - 8 1245 c.1246C>T c.(1246-1248)Ccc>Tcc p.P416S NOBOX_ENST00000483238.1_Missense_Mutation_p.P384S|NOBOX_ENST00000223140.5_Missense_Mutation_p.P299S NM_001080413.3 NP_001073882.3 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 416 Pro-rich. cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) AGCAGCATGGGGGGCTCTAGG 0.597000 9 25 0 0 1 0 0 PLOD1 5351 broad.mit.edu 37 1 12010487 12010487 + Missense_Mutation SNP T T C rs144702307 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:12010487T>C ENST00000196061.4 + 4 403 c.376T>C c.(376-378)Ttc>Ctc p.F126L PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Missense_Mutation_p.F173L NM_000302.3 NP_000293.2 Q02809 PLOD1_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 126 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) CCAGGTGGTCTTCTCTGCTGA 0.622000 6 67 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53855057 53855057 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:53855057C>T ENST00000458035.1 + 4 1246 c.1129C>T c.(1129-1131)Cat>Tat p.H377Y ZNF845_ENST00000595091.1_Missense_Mutation_p.H377Y NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 377 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAGGAAAATTCATACTGGAGA 0.403000 9 50 0 0 1 0 0 KRTAP23-1 337963 broad.mit.edu 37 21 31720888 31720888 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr21:31720888G>A ENST00000334160.4 - 1 36 c.37C>T c.(37-39)Cat>Tat p.H13Y NM_181624.1 NP_853655.1 A1A580 KR231_HUMAN keratin associated protein 23-1 13 intermediate filament large_intestine(1)|lung(4)|prostate(1) 6 TCACAGGAATGGGAGGAGAAG 0.547000 10 124 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16860935 16860935 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:16860935C>T ENST00000524140.2 + 6 1900 c.1482C>T c.(1480-1482)ccC>ccT p.P494P NWD1_ENST00000379808.3_Silent_p.P494P|NWD1_ENST00000552788.1_Silent_p.P494P|NWD1_ENST00000549814.1_Silent_p.P494P|NWD1_ENST00000523826.1_Silent_p.P288P|NWD1_ENST00000339803.6_Silent_p.P359P NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 494 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 AGGTGAAGCCCCTTTCCGGAA 0.637000 10 87 0 0 1 0 0 VIM 7431 broad.mit.edu 37 10 17271887 17271887 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:17271887G>A ENST00000544301.1 + 2 879 c.466G>A c.(466-468)Gag>Aag p.E156K VIM-AS1_ENST00000605833.1_RNA|VIM_ENST00000224237.5_Missense_Mutation_p.E156K|VIM_ENST00000485947.1_3'UTR NM_003380.3 NP_003371.2 P08670 VIME_HUMAN vimentin 156 Coil 1B.|Rod. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GGAGATGCGGGAGCTGCGCCG 0.642000 5 16 0 0 1 0 0 ADRA1A 148 broad.mit.edu 37 8 26721774 26721774 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:26721774C>T ENST00000380573.3 - 2 1736 c.713G>A c.(712-714)cGg>cAg p.R238Q ADRA1A_ENST00000380572.3_Missense_Mutation_p.R238Q|ADRA1A_ENST00000380581.2_Missense_Mutation_p.R238Q|ADRA1A_ENST00000358857.5_Missense_Mutation_p.R238Q|ADRA1A_ENST00000380582.3_Missense_Mutation_p.R238Q|ADRA1A_ENST00000354550.4_Missense_Mutation_p.R238Q|ADRA1A_ENST00000276393.4_Missense_Mutation_p.R238Q|ADRA1A_ENST00000519229.1_Missense_Mutation_p.R238Q|ADRA1A_ENST00000380587.1_Missense_Mutation_p.R238Q|ADRA1A_ENST00000380586.1_Missense_Mutation_p.R238Q P35348 ADA1A_HUMAN adrenoceptor alpha 1A 238 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) GGCGTTTTTCCGATGGATGCG 0.637000 4 59 0 0 1 0 0 SLFN13 146857 broad.mit.edu 37 17 33770918 33770918 + Missense_Mutation SNP T T G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:33770918T>G ENST00000285013.6 - 4 1363 c.1088A>C c.(1087-1089)gAg>gCg p.E363A SLFN13_ENST00000360502.2_Missense_Mutation_p.E45A|SLFN13_ENST00000542635.1_Missense_Mutation_p.E363A|SLFN13_ENST00000534689.1_Missense_Mutation_p.E45A|SLFN13_ENST00000526861.1_Missense_Mutation_p.E363A|SLFN13_ENST00000533791.1_Missense_Mutation_p.E363A NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 363 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) CTCAAAGGCCTCAGCAAAGTC 0.398000 4 52 0 0 1 0 0 CBX5 23468 broad.mit.edu 37 12 54651414 54651414 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:54651414C>T ENST00000209875.4 - 2 157 c.21G>A c.(19-21)cgG>cgA p.R7R CBX5_ENST00000550411.1_Silent_p.R7R|CBX5_ENST00000439541.2_Silent_p.R7R NM_012117.2 NP_036249.1 P45973 CBX5_HUMAN chromobox homolog 5 7 blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex methylated histone residue binding|protein binding, bridging|repressing transcription factor binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 8 TGTCAGCTGTCCGCTTGGTTT 0.493000 25 98 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20559726 20559726 + Missense_Mutation SNP C C T rs138313532 byFrequency TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:20559726C>T ENST00000329697.6 - 7 1132 c.964G>A c.(964-966)Gat>Aat p.D322N ACSM2B_ENST00000565232.1_Missense_Mutation_p.D322N|ACSM2B_ENST00000565322.1_Missense_Mutation_p.D243N|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Missense_Mutation_p.D322N NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 322 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CTGGAAAGATCCTGCTGTAGC 0.493000 31 104 0 0 1 0 0 HNF4G 3174 broad.mit.edu 37 8 76456161 76456161 + Silent SNP G G T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:76456161G>T ENST00000396423.2 + 2 328 c.204G>T c.(202-204)ggG>ggT p.G68G HNF4G_ENST00000354370.1_Silent_p.G31G NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 31 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) GCTGTGATGGGTGCAAGGGTT 0.448000 12 146 1.5842e-08 1.60744e-08 1 1 0 SLC26A11 284129 broad.mit.edu 37 17 78199644 78199644 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:78199644G>A ENST00000361193.3 + 6 802 c.522G>A c.(520-522)ctG>ctA p.L174L SLC26A11_ENST00000546047.2_Silent_p.L174L|SLC26A11_ENST00000572725.1_Silent_p.L174L|SLC26A11_ENST00000411502.3_Silent_p.L174L NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 174 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) AGAACCTGCTGGGACTACAGA 0.582000 53 166 0 0 1 0 0 GLOD4 51031 broad.mit.edu 37 17 681865 681865 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:681865G>A ENST00000301328.5 - 3 205 c.182C>T c.(181-183)tCa>tTa p.S61L GLOD4_ENST00000536578.1_Missense_Mutation_p.S37L|GLOD4_ENST00000301329.6_Intron Q9HC38 GLOD4_HUMAN glyoxalase domain containing 4 61 mitochondrion endometrium(1)|large_intestine(1)|prostate(1) 3 UCEC - Uterine corpus endometrioid carcinoma (25;0.022) TACTCACTTTGAGAAACTGTC 0.428000 7 12 0 0 1 0 0 OR10A7 121364 broad.mit.edu 37 12 55615075 55615075 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:55615075G>A ENST00000326258.1 + 1 267 c.267G>A c.(265-267)agG>agA p.R89R NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 TGTCCCCAAGGAAAATTATCT 0.403000 28 135 0 0 1 0 0 SLC22A6 9356 broad.mit.edu 37 11 62749325 62749325 + Missense_Mutation SNP G G C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:62749325G>C ENST00000377871.3 - 4 1052 c.786C>G c.(784-786)ttC>ttG p.F262L SLC22A6_ENST00000360421.4_Missense_Mutation_p.F262L|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000421062.2_Missense_Mutation_p.F262L|SLC22A6_ENST00000458333.2_Missense_Mutation_p.F262L NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 262 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 AGGAGTAGATGAAGAAGGCAA 0.617000 5 21 0 0 1 0 0 FAM98A 25940 broad.mit.edu 37 2 33810001 33810001 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:33810001G>A ENST00000238823.8 - 8 1539 c.1399C>T c.(1399-1401)Cgt>Tgt p.R467C FAM98A_ENST00000441530.2_Missense_Mutation_p.R272C|FAM98A_ENST00000403368.1_3'UTR Q8NCA5 FA98A_HUMAN family with sequence similarity 98, member A 468 Gly-rich. NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1) 24 all_hematologic(175;0.115) cggcctccacgaccacctcgc 0.592000 8 94 0 0 1 0 0 DPYSL5 56896 broad.mit.edu 37 2 27167672 27167672 + Missense_Mutation SNP A A C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:27167672A>C ENST00000288699.6 + 12 1747 c.1589A>C c.(1588-1590)gAa>gCa p.E530A DPYSL5_ENST00000401478.1_Missense_Mutation_p.E530A NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 530 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GACCTTCACGAATCCAGCTTC 0.622000 6 110 0 0 1 0 0 DSEL 92126 broad.mit.edu 37 18 65181320 65181320 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr18:65181320C>T ENST00000310045.7 - 2 2029 c.556G>A c.(556-558)Ggt>Agt p.G186S NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 176 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) GTGGCAAAACCTGTTAAGGAA 0.373000 9 50 0 0 1 0 0 MBL2 4153 broad.mit.edu 37 10 54530490 54530490 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:54530490G>A ENST00000373968.3 - 2 308 c.244C>T c.(244-246)Cca>Tca p.P82S MBL2_ENST00000493043.1_5'UTR NM_000242.2 NP_000233.1 P11226 MBL2_HUMAN mannose-binding lectin (protein C) 2, soluble 82 Collagen-like. acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 GAAGGCCCTGGATTTCCTGGA 0.547000 28 58 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10265760 10265760 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:10265760C>T ENST00000418404.3 - 3 428 c.265G>A c.(265-267)Gag>Aag p.E89K MYH13_ENST00000570743.1_Missense_Mutation_p.E89K|MYH13_ENST00000252172.4_Missense_Mutation_p.E89K Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 89 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GCCATGTCCTCGATCTTGTCA 0.473000 25 201 0 0 1 0 0 THNSL1 79896 broad.mit.edu 37 10 25312884 25312884 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:25312884G>A ENST00000524413.1 + 3 1079 c.732G>A c.(730-732)caG>caA p.Q244Q THNSL1_ENST00000376356.4_Silent_p.Q244Q Q8IYQ7 THNS1_HUMAN threonine synthase-like 1 (S. cerevisiae) 244 threonine biosynthetic process ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114) ACTGTGAACAGAAGGTTTCAG 0.423000 20 85 0 0 1 0 0 EYA4 2070 broad.mit.edu 37 6 133802642 133802642 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:133802642G>A ENST00000367895.5 + 12 1476 c.1012G>A c.(1012-1014)Gat>Aat p.D338N EYA4_ENST00000355286.6_Missense_Mutation_p.D315N|EYA4_ENST00000525849.1_Missense_Mutation_p.D315N|EYA4_ENST00000355167.3_Missense_Mutation_p.D338N|EYA4_ENST00000452339.2_Missense_Mutation_p.D284N|EYA4_ENST00000431403.2_Missense_Mutation_p.D338N|EYA4_ENST00000430974.2_Missense_Mutation_p.D290N|EYA4_ENST00000531901.1_Missense_Mutation_p.D344N NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 338 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) ACCCATCAAAGATCTTGATGA 0.458000 43 131 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169505801 169505801 + Silent SNP T T C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:169505801T>C ENST00000367796.3 - 14 5130 c.4929A>G c.(4927-4929)gaA>gaG p.E1643E F5_ENST00000367797.3_Silent_p.E1638E P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1638 F5/8 type A 3.|Plastocyanin-like 5. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CGAGATGCTCTTCATACTCCC 0.408000 14 69 0 0 1 0 0 CLK2 1196 broad.mit.edu 37 1 155240702 155240702 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:155240702G>A ENST00000368361.4 - 2 382 c.67C>T c.(67-69)Cgg>Tgg p.R23W CLK2_ENST00000355560.4_Missense_Mutation_p.R23W|CLK2_ENST00000536801.1_Missense_Mutation_p.R23W|CLK2_ENST00000361168.5_Missense_Mutation_p.R23W P49760 CLK2_HUMAN CDC-like kinase 2 23 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TTTCGGCTCCGATAGTGTTCA 0.572000 Other conserved DNA damage response genes 22 100 0 0 1 0 0 ACVR1B 91 broad.mit.edu 37 12 52369269 52369269 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:52369269C>T ENST00000257963.4 + 2 389 c.312C>T c.(310-312)atC>atT p.I104I ACVR1B_ENST00000541224.1_Silent_p.I104I|ACVR1B_ENST00000542485.1_Silent_p.I52I|ACVR1B_ENST00000426655.2_Silent_p.I104I|ACVR1B_ENST00000415850.2_Silent_p.I104I NM_004302.4|NM_020328.3 NP_004293.1|NP_064733.3 P36896 ACV1B_HUMAN activin A receptor, type IB 104 G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) GCAACAGGATCGACTTGAGGG 0.567000 5 62 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65239972 65239972 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr14:65239972G>A ENST00000389722.3 - 24 5197 c.5144C>T c.(5143-5145)tCc>tTc p.S1715F SPTB_ENST00000389720.3_Missense_Mutation_p.S1715F|SPTB_ENST00000542895.1_Missense_Mutation_p.S1715F|SPTB_ENST00000389721.5_Missense_Mutation_p.S1715F|SPTB_ENST00000556626.1_Missense_Mutation_p.S1715F NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1715 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CATTTCCGGGGAAGAGGCCAC 0.547000 15 38 0 0 1 0 0 TEK 7010 broad.mit.edu 37 9 27172647 27172647 + Missense_Mutation SNP A A G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:27172647A>G ENST00000380036.4 + 5 1104 c.662A>G c.(661-663)aAc>aGc p.N221S TEK_ENST00000519097.1_Missense_Mutation_p.N117S|TEK_ENST00000406359.4_Missense_Mutation_p.N221S NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 221 EGF-like 1. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) CCTGAATGCAACCATCTCTGT 0.473000 11 45 0 0 1 0 0 C11orf40 143501 broad.mit.edu 37 11 4598983 4598983 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:4598983C>T ENST00000307616.1 - 1 67 c.68G>A c.(67-69)aGa>aAa p.R23K NM_144663.1 NP_653264.1 Q8WZ69 CK040_HUMAN chromosome 11 open reading frame 40 23 large_intestine(3)|lung(1)|ovary(2)|stomach(1) 7 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) tgggtcccctctgtccatctg 0.552000 3 12 0 0 1 0 0 FAM90A1 55138 broad.mit.edu 37 12 8374895 8374895 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:8374895C>T ENST00000538603.1 - 7 1476 c.918G>A c.(916-918)aaG>aaA p.K306K FAM90A1_ENST00000307435.6_Silent_p.K306K NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 306 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) GTCTCGGTTTCTTGGGGAAGT 0.637000 7 76 0 0 1 0 0 ZNF511 118472 broad.mit.edu 37 10 135125390 135125390 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:135125390C>T ENST00000359035.3 + 5 728 c.725C>T c.(724-726)tCg>tTg p.S242L ZNF511_ENST00000463816.2_Intron|ZNF511_ENST00000368554.4_Intron|ZNF511_ENST00000361518.5_Intron Q8NB15 ZN511_HUMAN zinc finger protein 511 242 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 8 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06) AACATGTGTTCGGTGCTGAGG 0.547000 24 80 0 0 1 0 0 RPRD1A 55197 broad.mit.edu 37 18 33610771 33610771 + Splice_Site SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr18:33610771C>T ENST00000399022.4 - 4 657 c.486_splice c.e4+1 p.Q162_splice RPRD1A_ENST00000357384.4_Splice_Site_p.Q162_splice|RPRD1A_ENST00000337059.5_Splice_Site_p.Q126_splice|RPRD1A_ENST00000319040.6_Splice_Site_p.Q162_splice|RPRD1A_ENST00000590898.1_Splice_Site_p.Q126_splice|RPRD1A_ENST00000588737.1_Splice_Site_p.Q126_splice NM_018170.3 NP_060640.2 Q96P16 RPR1A_HUMAN regulation of nuclear pre-mRNA domain containing 1A 162 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2) 12 AAATTTCTACCTGTGGTGGTT 0.358000 9 32 0 0 1 0 0 SHKBP1 92799 broad.mit.edu 37 19 41096315 41096315 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:41096315C>T ENST00000291842.5 + 16 1804 c.1755C>T c.(1753-1755)ctC>ctT p.L585L SHKBP1_ENST00000600733.1_Silent_p.L560L NM_138392.3 NP_612401.2 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 585 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) TGGACGGCCTCGGCCAGGCCC 0.687000 3 30 0 0 1 0 0 STOX2 56977 broad.mit.edu 37 4 184931631 184931631 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr4:184931631C>T ENST00000308497.4 + 3 3075 c.1640C>T c.(1639-1641)tCg>tTg p.S547L STOX2_ENST00000438269.1_Missense_Mutation_p.S547L NM_020225.1 NP_064610.1 Q9P2F5 STOX2_HUMAN storkhead box 2 547 embryo development|maternal placenta development breast(1)|endometrium(7)|lung(6) 14 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) GCTCACATTTCGTCCACAAGC 0.532000 7 20 0 0 1 0 0 ITLN1 55600 broad.mit.edu 37 1 160851014 160851014 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:160851014G>A ENST00000326245.3 - 5 609 c.494C>T c.(493-495)tCc>tTc p.S165F ITLN1_ENST00000487531.1_5'UTR NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) 165 Fibrinogen C-terminal. positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CCTCAGCAGGGAGCTGTTTCT 0.567000 40 169 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137717748 137717748 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:137717748G>A ENST00000371817.3 + 63 5479 c.5065G>A c.(5065-5067)Ggg>Agg p.G1689R NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1689 Fibrillar collagen NC1. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GAAGTCCGAAGGGGTGAGTAG 0.562000 6 42 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47574946 47574946 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr4:47574946C>T ENST00000273859.3 + 18 3567 c.3298C>T c.(3298-3300)Ctt>Ttt p.L1100F NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 1100 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 CAAGCTCCTTCTTGTCCATGG 0.443000 39 176 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858007 9858007 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:9858007G>A ENST00000396573.2 - 14 3703 c.3394C>T c.(3394-3396)Cca>Tca p.P1132S GRIN2A_ENST00000330684.3_Missense_Mutation_p.P1132S|GRIN2A_ENST00000535259.1_Missense_Mutation_p.P975S|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P1132S|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P1132S|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P1132S NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1132 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AACTGGGGTGGATCTAAGTGG 0.527000 15 138 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136805 40136805 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:40136805C>T ENST00000278198.2 - 2 3001 c.1038G>A c.(1036-1038)caG>caA p.Q346Q LRRC4C_ENST00000528697.1_Silent_p.Q346Q|LRRC4C_ENST00000530763.1_Silent_p.Q346Q|LRRC4C_ENST00000527150.1_Silent_p.Q346Q Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 346 LRRCT. regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) TGAAGTAATTCTGGTCGAGCT 0.537000 19 48 0 0 1 0 0 OR4C13 283092 broad.mit.edu 37 11 49974661 49974661 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:49974661G>A ENST00000555099.1 + 1 719 c.687G>A c.(685-687)gaG>gaA p.E229E NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 ACAGCTTAGAGGCAAGGCACG 0.478000 10 117 0 0 1 0 0 HDAC4 9759 broad.mit.edu 37 2 240036809 240036809 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:240036809G>A ENST00000345617.3 - 13 2507 c.1716C>T c.(1714-1716)ccC>ccT p.P572P HDAC4_ENST00000543185.1_Silent_p.P156P|HDAC4_ENST00000541256.1_Silent_p.P546P NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 572 B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) CCTCCCGTGGGGGCTCTGCCT 0.697000 11 105 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36215910 36215910 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:36215910C>T ENST00000222270.7 + 10 3450 c.3450C>T c.(3448-3450)ccC>ccT p.P1150P WBP7_ENST00000420124.1_Silent_p.P1150P|KMT2B_ENST00000607650.1_RNA NM_014727.1 NP_055542.1 CCCCTGGCCCCTTTGCTTCTT 0.592000 11 51 0 0 1 0 0 VSNL1 7447 broad.mit.edu 37 2 17773481 17773481 + Missense_Mutation SNP A A T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:17773481A>T ENST00000406397.1 + 2 665 c.140A>T c.(139-141)gAa>gTa p.E47V VSNL1_ENST00000404666.2_Missense_Mutation_p.E47V|VSNL1_ENST00000295156.4_Missense_Mutation_p.E47V P62760 VISL1_HUMAN visinin-like 1 47 EF-hand 1. calcium ion binding NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AATCTCGAGGAATTTCAGCAG 0.428000 18 149 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24488005 24488005 + Missense_Mutation SNP C C A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:24488005C>A ENST00000264463.4 - 12 2641 c.2134G>T c.(2134-2136)Gat>Tat p.D712Y CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 712 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) TTAATGAAATCCCGGACGTCC 0.468000 HNSCC(23;0.051) 7 67 0.0809354 0.0811309 1 1 0 PCNT 5116 broad.mit.edu 37 21 47831555 47831555 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr21:47831555C>T ENST00000359568.5 + 28 5675 c.5568C>T c.(5566-5568)atC>atT p.I1856I PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 1856 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CCTCCCGGATCCAGGAGTTCG 0.617000 10 53 0 0 1 0 0 AOX1 316 broad.mit.edu 37 2 201521584 201521584 + Missense_Mutation SNP T T C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:201521584T>C ENST00000374700.2 + 27 3336 c.3095T>C c.(3094-3096)aTt>aCt p.I1032T AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 1032 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) TTGGTTCACATTTATCTTGAT 0.408000 11 76 0 0 1 0 0 CLIP3 25999 broad.mit.edu 37 19 36508893 36508893 + Splice_Site SNP C C A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:36508893C>A ENST00000360535.4 - 10 1411 c.1183_splice c.e10-1 p.G395_splice AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Splice_Site_p.G395_splice NM_015526.2 NP_056341.1 Q96DZ5 CLIP3_HUMAN CAP-GLY domain containing linker protein 3 395 chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane ganglioside binding|microtubule binding cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 23 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CTTCTTCTTGCCTAAGGGTAG 0.592000 3 41 1 1 1 1 0 DVL3 1857 broad.mit.edu 37 3 183887886 183887886 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:183887886C>T ENST00000313143.3 + 14 1839 c.1591C>T c.(1591-1593)Cct>Tct p.P531S DVL3_ENST00000431765.1_Missense_Mutation_p.P514S|EIF2B5_ENST00000444495.1_Intron NM_004423.3 NP_004414.3 Q92997 DVL3_HUMAN dishevelled segment polarity protein 3 531 canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1) 35 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) GGGGGCCGCCCCTTGGCCCAT 0.682000 19 92 0 0 1 0 0 PROKR2 128674 broad.mit.edu 37 20 5294827 5294827 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr20:5294827G>A ENST00000546004.1 - 2 435 c.189C>T c.(187-189)atC>atT p.I63I PROKR2_ENST00000217270.3_Silent_p.I63I Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 63 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 AGACCAGCATGATGCCTGCCA 0.527000 HNSCC(71;0.22) 30 85 0 0 1 0 0 STON1 11037 broad.mit.edu 37 2 48807854 48807854 + Missense_Mutation SNP C C T rs144911860 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:48807854C>T ENST00000309835.3 + 1 92 c.82C>T c.(82-84)Cct>Tct p.P28S STON1_ENST00000406226.1_Missense_Mutation_p.P28S|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P28S|STON1_ENST00000404752.1_Missense_Mutation_p.P28S|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P28S|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P28S|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P28S|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P28S stonin 1 p.P28S(2) NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AAAGAATTTTCCTCTGGAGAA 0.473000 14 57 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7620811 7620811 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:7620811C>T ENST00000486284.1 + 8 2492 c.2218C>T c.(2218-2220)Cct>Tct p.P740S GRM7_ENST00000402647.2_Missense_Mutation_p.P740S|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Missense_Mutation_p.P740S|GRM7_ENST00000357716.4_Missense_Mutation_p.P740S|GRM7_ENST00000389336.4_Missense_Mutation_p.P740S NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 740 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GACAATGAACCCTGAGCAAGC 0.418000 30 95 0 0 1 0 0 BRD1 23774 broad.mit.edu 37 22 50191451 50191451 + Splice_Site SNP A A G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr22:50191451A>G ENST00000216267.8 - 5 2585 c.e5+1 BRD1_ENST00000404034.1_Splice_Site|BRD1_ENST00000342989.5_Splice_Site|BRD1_ENST00000457780.2_Splice_Site|BRD1_ENST00000404760.1_Splice_Site|BRD1_ENST00000542442.1_Splice_Site NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) GCCAGTTCTTACCGTCTTCCC 0.652000 3 40 0 0 1 0 0 SERPINB11 89778 broad.mit.edu 37 18 61388197 61388197 + RNA SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr18:61388197G>A ENST00000544088.1 + 0 813 SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) TCTGCTTCCAGTAGGCATAGC 0.383000 11 11 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121358740 121358740 + Splice_Site SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:121358740G>A ENST00000260197.7 + 4 657 c.e4-1 SORL1_ENST00000532451.1_Splice_Site NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TTCCCTTGCAGTACATCTTTG 0.522000 67 492 0 0 1 0 0 GLP1R 2740 broad.mit.edu 37 6 39040771 39040771 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:39040771G>A ENST00000373256.4 + 6 686 c.643G>A c.(643-645)Gat>Aat p.D215N NM_002062.3 NP_002053.3 P43220 GLP1R_HUMAN glucagon-like peptide 1 receptor 215 activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 Exenatide(DB01276)|Glucagon recombinant(DB00040) GCACCAGTGGGATGGGCTCCT 0.612000 18 113 0 0 1 0 0 MCPH1 79648 broad.mit.edu 37 8 6302531 6302531 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:6302531C>T ENST00000344683.5 + 8 1364 c.1288C>T c.(1288-1290)Cct>Tct p.P430S MCPH1_ENST00000519480.1_Missense_Mutation_p.P430S|MCPH1_ENST00000522905.1_Missense_Mutation_p.P382S NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 430 microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) AGAGAATCTTCCTCCTGAATC 0.453000 10 124 0 0 1 0 0 ZMYM4 9202 broad.mit.edu 37 1 35864598 35864598 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:35864598C>T ENST00000314607.6 + 22 3467 c.3387C>T c.(3385-3387)ttC>ttT p.F1129F ZMYM4_ENST00000373297.2_Silent_p.F1040F NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 1129 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TGAAGCAGTTCTCAAAAGGGG 0.428000 10 62 0 0 1 0 0 OR11A1 26531 broad.mit.edu 37 6 29394788 29394788 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:29394788G>A ENST00000377149.1 - 5 1103 c.631C>T c.(631-633)Cct>Tct p.P211S OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Missense_Mutation_p.P211S|OR11A1_ENST00000377147.2_Missense_Mutation_p.P211S Q9GZK7 O11A1_HUMAN olfactory receptor, family 11, subfamily A, member 1 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 19 AGTCCAAAAGGAATAGTGAGG 0.507000 15 46 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152771891 152771891 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:152771891G>A ENST00000367255.5 - 27 3865 c.3264C>T c.(3262-3264)ctC>ctT p.L1088L SYNE1_ENST00000367253.4_Silent_p.L1088L|SYNE1_ENST00000341594.5_Silent_p.L1154L|SYNE1_ENST00000265368.4_Silent_p.L1088L|SYNE1_ENST00000423061.1_Silent_p.L1095L|SYNE1_ENST00000367248.3_Silent_p.L1078L|SYNE1_ENST00000413186.2_Silent_p.L1088L|SYNE1_ENST00000448038.1_Silent_p.L1095L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1088 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCCGCACTGGGAGTTTCACAC 0.468000 HNSCC(10;0.0054) 44 152 0 0 1 0 0 RPUSD3 285367 broad.mit.edu 37 3 9881917 9881917 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:9881917C>T ENST00000383820.5 - 7 676 c.675G>A c.(673-675)gtG>gtA p.V225V RPUSD3_ENST00000424438.1_Silent_p.V193V|RPUSD3_ENST00000433535.2_Silent_p.V210V|TTLL3_ENST00000455274.1_Intron NM_173659.3 NP_775930.2 Q6P087 RUSD3_HUMAN RNA pseudouridylate synthase domain containing 3 225 pseudouridine synthesis pseudouridine synthase activity|RNA binding central_nervous_system(2)|endometrium(3)|lung(2) 7 Medulloblastoma(99;0.227) CTGTGGCTACCACACGAAAGT 0.557000 34 173 0 0 1 0 0 MAGEA8 4107 broad.mit.edu 37 X 149013407 149013407 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:149013407C>T ENST00000535454.1 + 4 910 c.361C>T c.(361-363)Cgt>Tgt p.R121C MAGEA8_ENST00000286482.1_Missense_Mutation_p.R121C|MAGEA8_ENST00000542674.1_Missense_Mutation_p.R121C NM_001166400.1 NP_001159872.1 P43361 MAGA8_HUMAN melanoma antigen family A, 8 121 MAGE. R -> H (in dbSNP:rs35744768). p.R121C(1) NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;6.56e-05) TGAGTTAGTTCGTTTCCTGCT 0.493000 24 61 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185878571 185878571 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:185878571C>T ENST00000271588.4 + 5 953 c.724C>T c.(724-726)Ccc>Tcc p.P242S HMCN1_ENST00000367492.2_Missense_Mutation_p.P242S NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 242 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TCCTTTTGATCCCAGCCTGAA 0.388000 13 72 0 0 1 0 0 CDH2 1000 broad.mit.edu 37 18 25568610 25568610 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr18:25568610G>A ENST00000269141.3 - 11 2042 c.1619C>T c.(1618-1620)cCt>cTt p.P540L CDH2_ENST00000399380.3_Missense_Mutation_p.P509L NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 540 Cadherin 4. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CCAATTGGCAGGATCAGATAA 0.284000 4 23 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106815353 106815353 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:106815353C>T ENST00000407775.2 + 8 3293 c.3043C>T c.(3043-3045)Cct>Tct p.P1015S RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P746S|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P883S|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P883S NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 1015 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AAATGAATCTCCTAAAGGCCA 0.418000 8 58 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21150440 21150440 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr22:21150440G>A ENST00000255882.6 - 18 2357 c.2271C>T c.(2269-2271)gcC>gcT p.A757A PI4KA_ENST00000572273.1_Silent_p.A699A NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 699 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CTACCTTTAGGGCAGGGCCCT 0.572000 6 40 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76472765 76472765 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:76472765G>A ENST00000389840.5 - 52 8125 c.8001C>T c.(7999-8001)gtC>gtT p.V2667V DNAH17_ENST00000586052.1_Intron|DNAH17_ENST00000585328.1_Silent_p.V2676V dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GCCAAAGGCGGACGAGGTCCA 0.502000 4 23 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90106986 90106986 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:90106986C>T ENST00000405460.2 + 74 16005 c.15909C>T c.(15907-15909)ttC>ttT p.F5303F GPR98_ENST00000425867.2_Silent_p.F964F NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5303 Calx-beta 34. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.F5303F(1) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CCCTTATATTCCTAGATGGAG 0.408000 5 24 0 0 1 0 0 RAB31 11031 broad.mit.edu 37 18 9859270 9859270 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr18:9859270G>A ENST00000578921.1 + 7 777 c.536G>A c.(535-537)gGa>gAa p.G179E RAB31_ENST00000577284.1_3'UTR NM_006868.3 NP_006859.2 Q13636 RAB31_HUMAN RAB31, member RAS oncogene family 178 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1) 10 GGAAACAATGGAACAATCAAA 0.557000 6 56 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101198190 101198190 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:101198190G>A ENST00000294728.2 + 7 1843 c.1742G>A c.(1741-1743)gGa>gAa p.G581E VCAM1_ENST00000347652.2_Missense_Mutation_p.G489E|VCAM1_ENST00000370115.1_Missense_Mutation_p.G382E|VCAM1_ENST00000370119.4_Missense_Mutation_p.G519E NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 581 Ig-like C2-type 6. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) TTATGTGAAGGAATTAACCAG 0.408000 40 144 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24104250 24104250 + Nonsense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:24104250G>A ENST00000303531.7 + 6 820 c.668G>A c.(667-669)tGg>tAg p.W223* PRKCB_ENST00000482000.1_3'UTR|PRKCB_ENST00000321728.7_Nonsense_Mutation_p.W223* NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 223 C2. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) AACCCTGAGTGGAATGAGACA 0.478000 18 70 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141724851 141724851 + Splice_Site SNP A A G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:141724851A>G ENST00000475668.2 + 8 938 c.882_splice c.e8-1 p.N295_splice MGAM_ENST00000549489.2_Splice_Site_p.N295_splice O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 295 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TTTCTGCAGAACGGAACTAAT 0.403000 10 47 0 0 1 0 0 TRPC5 7224 broad.mit.edu 37 X 111078215 111078215 + Silent SNP G G T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:111078215G>T ENST00000262839.2 - 7 2748 c.1830C>A c.(1828-1830)gtC>gtA p.V610V NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 610 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CCAGGGAGATGACATTGTATG 0.423000 5 306 0.0293803 0.0294988 1 1 0 TFDP3 51270 broad.mit.edu 37 X 132352018 132352018 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:132352018G>A ENST00000310125.4 - 1 358 c.270C>T c.(268-270)tcC>tcT p.S90S NM_016521.2 NP_057605.3 Q5H9I0 TFDP3_HUMAN transcription factor Dp family, member 3 90 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2) 19 Acute lymphoblastic leukemia(192;0.000127) GTGAGGAGTAGGAATGCTGGT 0.552000 32 59 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10470537 10470537 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:10470537G>A ENST00000382483.3 - 4 1294 c.1071C>T c.(1069-1071)ccC>ccT p.P357P NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 357 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CCCCCAGAACGGGGTCTTCCC 0.677000 22 94 0 0 1 0 0 YBX2 51087 broad.mit.edu 37 17 7193602 7193602 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:7193602G>A ENST00000007699.5 - 5 775 c.712C>T c.(712-714)Ccc>Tcc p.P238S NM_015982.3 NP_057066.2 Q9Y2T7 YBOX2_HUMAN Y box binding protein 2 238 Pro-rich.|Required for mRNA-binding. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation cytoplasm|nucleus DNA binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3) 12 GGAGGCCGGGGGCCTCGCACA 0.622000 49 182 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52557975 52557975 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:52557975G>A ENST00000321725.6 + 67 7560 c.7484G>A c.(7483-7485)gGa>gAa p.G2495E NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 2495 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TTGGTGGCCGGAGCTCTCTAC 0.657000 4 31 0 0 1 0 0 WDR16 146845 broad.mit.edu 37 17 9489222 9489222 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:9489222C>T ENST00000352665.5 + 2 272 c.203C>T c.(202-204)tCc>tTc p.S68F WDR16_ENST00000396219.3_Intron|WDR16_ENST00000299764.5_Missense_Mutation_p.S78F NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 68 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 AACAACGTCTCCTGCTTGGCC 0.463000 24 165 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56357836 56357836 + Nonsense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:56357836G>A ENST00000370754.5 - 84 20352 c.20353C>T c.(20353-20355)Caa>Taa p.Q6785* DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Nonsense_Mutation_p.Q6607*|DST_ENST00000370788.2_Nonsense_Mutation_p.Q4410*|DST_ENST00000361203.3_Nonsense_Mutation_p.Q6496*|DST_ENST00000421834.2_Nonsense_Mutation_p.Q4519*|DST_ENST00000446842.2_Nonsense_Mutation_p.Q6281*|DST_ENST00000244364.6_Nonsense_Mutation_p.Q4193* Q03001 DYST_HUMAN dystonin 6605 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATGAAGTCTTGGAGAGAATTG 0.428000 5 25 0 0 1 0 0 PTPRO 5800 broad.mit.edu 37 12 15702028 15702028 + Splice_Site SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:15702028G>A ENST00000281171.4 + 14 2635 c.2304_splice c.e14-1 p.E769_splice PTPRO_ENST00000544244.1_5'UTR|PTPRO_ENST00000542557.1_5'UTR|PTPRO_ENST00000348962.2_Splice_Site_p.E769_splice|PTPRO_ENST00000442921.2_5'UTR|PTPRO_ENST00000445537.2_5'UTR NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 769 Fibronectin type-III 8. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) GAAACCCCAGGAACCAGTTGC 0.388000 38 194 0 0 1 0 0 PBX1 5087 broad.mit.edu 37 1 164789376 164789376 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:164789376G>A ENST00000420696.2 + 7 1253 c.1065G>A c.(1063-1065)ggG>ggA p.G355G PBX1_ENST00000367897.1_Intron|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000540236.1_Silent_p.G355G|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000540246.1_Silent_p.G250G|PBX1_ENST00000560641.1_Silent_p.G250G NM_001204961.1|NM_001204963.1|NM_002585.3 NP_001191890.1|NP_001191892.1|NP_002576.1 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 355 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 CACTCAATGGGGATTCTTACC 0.498000 T """TCF3, EWSR1""" """pre B-ALL, myoepithelioma""" 22 132 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36317477 36317477 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:36317477C>T ENST00000378910.5 - 29 3664 c.3665G>A c.(3664-3666)gGa>gAa p.G1222E NPHS1_ENST00000353632.6_Missense_Mutation_p.G1182E NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 1222 Binds to NPHS2. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GTCCAAGTCTCCGGCCACCTG 0.542000 8 58 0 0 1 0 0 FAM129A 116496 broad.mit.edu 37 1 184764158 184764158 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:184764158C>T ENST00000367511.3 - 14 2933 c.2740G>A c.(2740-2742)Gga>Aga p.G914R FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 914 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 CCACCTTCTCCCTCCTTCACG 0.512000 45 204 0 0 1 0 0 MGAT4A 11320 broad.mit.edu 37 2 99291500 99291500 + Missense_Mutation SNP C C A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:99291500C>A ENST00000393487.1 - 4 714 c.401G>T c.(400-402)gGa>gTa p.G134V MGAT4A_ENST00000409391.1_Missense_Mutation_p.G134V|MGAT4A_ENST00000264968.2_Missense_Mutation_p.G134V NM_012214.2 NP_036346.1 Q9UM21 MGT4A_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A 134 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 19 AAACATACCTCCTGTTCTTCC 0.358000 4 51 1.024e-07 1.03733e-07 1 1 0 SCML2 10389 broad.mit.edu 37 X 18260571 18260571 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:18260571G>A ENST00000251900.4 - 14 2121 c.1962C>T c.(1960-1962)ctC>ctT p.L654L SCML2_ENST00000398048.3_Intron NM_006089.2 NP_006080.1 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 (Drosophila) 654 SAM. anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) GTTGCCTGAAGAGGTCGGCGA 0.473000 32 67 0 0 1 0 0 MFSD6L 162387 broad.mit.edu 37 17 8701725 8701725 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:8701725G>A ENST00000329805.4 - 1 942 c.714C>T c.(712-714)tcC>tcT p.S238S NM_152599.3 NP_689812.3 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 6-like 238 integral to membrane p.S238L(1) central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4) 17 ACGCCTCCAAGGACAGGTCAA 0.607000 16 57 0 0 1 0 0 INTS9 55756 broad.mit.edu 37 8 28638383 28638383 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:28638383C>T ENST00000416984.2 - 11 1523 c.1164G>A c.(1162-1164)atG>atA p.M388I INTS9_ENST00000397363.4_Missense_Mutation_p.M303I|INTS9_ENST00000521070.1_5'UTR|INTS9_ENST00000521777.1_Missense_Mutation_p.M385I|INTS9_ENST00000521022.1_Missense_Mutation_p.M409I NM_001145159.2 NP_001138631.1 Q9NV88 INT9_HUMAN integrator complex subunit 9 409 snRNA processing integrator complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2) 19 Ovarian(32;0.0439) KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152) CCCAGAGCTCCATGAAGTGGA 0.502000 20 62 0 0 1 0 0 STON1 11037 broad.mit.edu 37 2 48809129 48809129 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:48809129G>A ENST00000309835.3 + 1 1367 c.1357G>A c.(1357-1359)Gaa>Aaa p.E453K STON1_ENST00000406226.1_Missense_Mutation_p.E453K|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E453K|STON1_ENST00000404752.1_Missense_Mutation_p.E453K|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E453K|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E453K|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E453K|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E453K stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TGGGAACCTGGAATGCTTTTT 0.383000 10 126 0 0 1 0 0 CELA2A 63036 broad.mit.edu 37 1 15793991 15793991 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:15793991C>T ENST00000359621.4 + 7 775 c.750C>T c.(748-750)tcC>tcT p.S250S CELA2B_ENST00000494280.1_3'UTR NM_033440.2 NP_254275.1 P08217 CEL2A_HUMAN chymotrypsin-like elastase family, member 2A 250 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1) 16 ACAAGCCCTCCGTCTTCACGC 0.627000 10 95 0 0 1 0 0 GABRA1 2554 broad.mit.edu 37 5 161309653 161309653 + Nonsense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:161309653C>T ENST00000428797.2 + 8 1004 c.649C>T c.(649-651)Cag>Tag p.Q217* GABRA1_ENST00000420560.1_Nonsense_Mutation_p.Q217*|GABRA1_ENST00000023897.6_Nonsense_Mutation_p.Q217*|GABRA1_ENST00000444819.1_Nonsense_Mutation_p.Q217*|GABRA1_ENST00000437025.2_Nonsense_Mutation_p.Q217*|GABRA1_ENST00000393943.4_Nonsense_Mutation_p.Q217* NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 217 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.Q217K(1) NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) ACGTCTAAACCAGTATGACCT 0.408000 8 59 0 0 1 0 0 WSB2 55884 broad.mit.edu 37 12 118481179 118481179 + Translation_Start_Site SNP G G C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:118481179G>C ENST00000542304.1 - 0 106 WSB2_ENST00000535496.1_Missense_Mutation_p.I64M|WSB2_ENST00000315436.3_Missense_Mutation_p.I62M|WSB2_ENST00000441406.2_Missense_Mutation_p.I79M|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000544233.1_Intron Q9NYS7 WSB2_HUMAN WD repeat and SOCS box containing 2 intracellular signal transduction breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACCCTTTAGGGATGCTGGGAG 0.478000 11 89 0 0 1 0 0 ATP5J 522 broad.mit.edu 37 21 27097555 27097555 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr21:27097555G>A ENST00000400093.3 - 3 962 c.271C>T c.(271-273)Ccc>Tcc p.P91S ATP5J_ENST00000400087.3_Missense_Mutation_p.P91S|ATP5J_ENST00000284971.3_Missense_Mutation_p.P91S|ATP5J_ENST00000400090.3_Missense_Mutation_p.P91S|ATP5J_ENST00000400094.1_Missense_Mutation_p.P91S|ATP5J_ENST00000400099.1_Missense_Mutation_p.P91S|ATP5J_ENST00000457143.2_Missense_Mutation_p.P99S NM_001003701.1|NM_001003703.1|NM_001685.4 NP_001003701.1|NP_001003703.1|NP_001676.2 P18859 ATP5J_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 91 ATP catabolic process|respiratory electron transport chain hydrogen ion transmembrane transporter activity cervix(1)|endometrium(1)|lung(1)|pancreas(1) 4 TTGAAGGTGGGAAATGTATTC 0.388000 11 77 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2369795 2369795 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:2369795C>T ENST00000301732.5 - 8 1360 c.660G>A c.(658-660)cgG>cgA p.R220R ABCA3_ENST00000382381.3_Silent_p.R220R NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 220 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) CCATGATGGCCCGGTCCACAG 0.647000 12 103 0 0 1 0 0 CYP2B7P 1556 broad.mit.edu 37 19 41448095 41448095 + RNA SNP A A T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:41448095A>T ENST00000599198.1 + 0 1002 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 TCATGCTCAAATACCCTCATG 0.577000 10 79 0 0 1 0 0 OR2Z1 284383 broad.mit.edu 37 19 8842008 8842008 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:8842008C>T ENST00000324060.2 + 1 693 c.618C>T c.(616-618)atC>atT p.I206I NM_001004699.1 NP_001004699.1 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, member 1 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GGGTGCTGATCCTAATGCTCC 0.572000 12 102 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5485279 5485279 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:5485279C>T ENST00000345221.3 - 3 1106 c.552G>A c.(550-552)ggG>ggA p.G184G NLRP1_ENST00000354411.3_Silent_p.G184G|NLRP1_ENST00000262467.5_Silent_p.G184G|NLRP1_ENST00000572272.1_Silent_p.G184G|NLRP1_ENST00000577119.1_Silent_p.G184G|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Silent_p.G184G NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 184 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) ATCCCCAGCTCCCCAGCACTG 0.597000 12 59 0 0 1 0 0 HEATR5B 54497 broad.mit.edu 37 2 37265141 37265141 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:37265141G>A ENST00000233099.5 - 21 3168 c.3073C>T c.(3073-3075)Cgt>Tgt p.R1025C HEATR5B_ENST00000354531.2_Missense_Mutation_p.R1025C NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1025 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) CAAGAGGAACGAATTGTAGAA 0.363000 12 58 0 0 1 0 0 SLC2A6 11182 broad.mit.edu 37 9 136337266 136337266 + Silent SNP G G A rs139167395 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:136337266G>A ENST00000371899.4 - 10 1478 c.1401C>T c.(1399-1401)ttC>ttT p.F467F SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Silent_p.F405F NM_017585.3 NP_060055.2 Q9UGQ3 GTR6_HUMAN solute carrier family 2 (facilitated glucose transporter), member 6 467 integral to membrane|plasma membrane D-glucose transmembrane transporter activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05) TGGCCGCGAAGAAGAAGAAAG 0.647000 9 61 0 0 1 0 0 FAM76A 199870 broad.mit.edu 37 1 28075618 28075618 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:28075618C>T ENST00000373954.6 + 6 654 c.552C>T c.(550-552)atC>atT p.I184I FAM76A_ENST00000530324.1_Silent_p.I184I|FAM76A_ENST00000419687.2_Intron|FAM76A_ENST00000234549.7_Intron|FAM76A_ENST00000010299.6_Silent_p.I218I|FAM76A_ENST00000373949.1_Intron NM_001143912.1|NM_152660.2 NP_001137384.1|NP_689873.1 Q8TAV0 FA76A_HUMAN family with sequence similarity 76, member A 184 endometrium(4)|kidney(2)|large_intestine(1)|lung(2) 9 Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649) AAAATGAAATCCCAAAGAAAA 0.358000 5 60 0 0 1 0 0 CSF2RB 1439 broad.mit.edu 37 22 37334242 37334242 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr22:37334242G>A ENST00000262825.5 + 14 2627 c.2410G>A c.(2410-2412)Gaa>Aaa p.E804K CSF2RB_ENST00000403662.3_Missense_Mutation_p.E798K|CSF2RB_ENST00000536485.1_Missense_Mutation_p.E745K|CSF2RB_ENST00000406230.1_Missense_Mutation_p.E804K NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 798 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) GAACCCAGGGGAACGCCCGGC 0.657000 4 96 0 0 1 0 0 MATN4 8785 broad.mit.edu 37 20 43926839 43926839 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr20:43926839G>A ENST00000537548.1 - 8 1641 c.1397C>T c.(1396-1398)tCg>tTg p.S466L MATN4_ENST00000372754.1_Missense_Mutation_p.S507L|MATN4_ENST00000342716.4_Missense_Mutation_p.S466L|MATN4_ENST00000372756.1_Missense_Mutation_p.S466L|MATN4_ENST00000372751.4_Missense_Mutation_p.S317L|MATN4_ENST00000360607.5_Missense_Mutation_p.S425L|MATN4_ENST00000372753.1_Missense_Mutation_p.S317L|MATN4_ENST00000353917.5_Missense_Mutation_p.S384L O95460 MATN4_HUMAN matrilin 4 507 VWFA 2. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) TGCCCACACCGAGATGTCATC 0.672000 29 101 0 0 1 0 0 SERPINI1 5274 broad.mit.edu 37 3 167525048 167525048 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:167525048G>A ENST00000295777.5 + 6 1329 c.898G>A c.(898-900)Gaa>Aaa p.E300K SERPINI1_ENST00000446050.2_Missense_Mutation_p.E300K|SERPINI1_ENST00000488374.1_3'UTR NM_005025.4 NP_005016.1 Q99574 NEUS_HUMAN serpin peptidase inhibitor, clade I (neuroserpin), member 1 300 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2) 20 AGTGGAACAGGAAATTGATTT 0.338000 13 85 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60695878 60695878 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:60695878G>A ENST00000335712.6 - 3 703 c.476C>T c.(475-477)cCg>cTg p.P159L BCL11A_ENST00000359629.5_Missense_Mutation_p.P159L|BCL11A_ENST00000538214.1_Intron|BCL11A_ENST00000537768.1_Missense_Mutation_p.P7L|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.P159L|BCL11A_ENST00000358510.4_Intron NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 159 Required for nuclear body formation and for SUMO1 recruitment (By similarity). negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) AATACCCTGCGGGGCATATTC 0.458000 T IGH@ B-CLL 6 56 0 0 1 0 0 ZNF662 389114 broad.mit.edu 37 3 42950300 42950300 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:42950300C>T ENST00000541208.1 + 3 419 c.50C>T c.(49-51)cCc>cTc p.P17L ZNF662_ENST00000440367.2_Missense_Mutation_p.P17L|KRBOX1_ENST00000426937.1_5'UTR|ZNF662_ENST00000430067.2_3'UTR|ZNF662_ENST00000328199.6_Missense_Mutation_p.P77L|ZNF662_ENST00000422021.1_Missense_Mutation_p.P17L Q6ZS27 ZN662_HUMAN zinc finger protein 662 17 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.217) TTTCCATTTCCCAAACCGGCT 0.577000 62 268 0 0 1 0 0 OSR1 130497 broad.mit.edu 37 2 19553113 19553113 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:19553113C>T ENST00000536433.1 - 1 3564 c.454G>A c.(454-456)Gac>Aac p.D152N OSR1_ENST00000272223.2_Missense_Mutation_p.D152N Q8TAX0 OSR1_HUMAN odd-skipped related transciption factor 1 152 chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development nucleolus nucleic acid binding|zinc ion binding breast(1)|large_intestine(2)|lung(4)|ovary(1) 8 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) Acute lymphoblastic leukemia(84;0.221) TTGGTCACGTCGAGGAGGGCA 0.612000 7 57 0 0 1 0 0 FER1L5 90342 broad.mit.edu 37 2 97370254 97370254 + RNA SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:97370254C>T ENST00000457909.1 + 0 5502 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 CTGTATCCTCCCATTAAAATA 0.458000 16 159 0 0 1 0 0 ANXA1 301 broad.mit.edu 37 9 75784010 75784010 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:75784010G>A ENST00000376911.1 + 11 1806 c.924G>A c.(922-924)atG>atA p.M308I ANXA1_ENST00000257497.6_Missense_Mutation_p.M308I|ANXA1_ENST00000491192.1_3'UTR P04083 ANXA1_HUMAN annexin A1 308 alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5) 8 all_epithelial(88;2.54e-11) OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325) Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620) AAATTGACATGAATGATATCA 0.403000 54 144 0 0 1 0 0 PIAS1 8554 broad.mit.edu 37 15 68379016 68379016 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr15:68379016C>T ENST00000545237.1 + 3 1144 c.403C>T c.(403-405)Cat>Tat p.H135Y PIAS1_ENST00000249636.6_Missense_Mutation_p.H133Y O75925 PIAS1_HUMAN protein inhibitor of activated STAT, 1 133 PINIT. androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent nuclear speck androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1) 24 TCACCCAGTCCATCCGGATAT 0.403000 4 79 0 0 1 0 0 CPA4 51200 broad.mit.edu 37 7 129962492 129962492 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:129962492G>A ENST00000222482.4 + 11 1270 c.1242G>A c.(1240-1242)gaG>gaA p.E414E CPA4_ENST00000493259.1_Silent_p.E310E|CPA4_ENST00000445470.2_Silent_p.E381E NM_016352.3 NP_057436.2 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 414 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Melanoma(18;0.0435) CCATCATGGAGCATGTGCGGG 0.532000 35 178 0 0 1 0 0 MTBP 27085 broad.mit.edu 37 8 121502739 121502739 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:121502739C>T ENST00000305949.1 + 13 1421 c.1376C>T c.(1375-1377)tCt>tTt p.S459F NM_022045.3 NP_071328.2 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 459 cell cycle arrest NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) CCACATTTTTCTGGGGAGCAG 0.333000 9 51 0 0 1 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890456 23890456 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr15:23890456C>T ENST00000532292.1 - 1 719 c.625G>A c.(625-627)Gag>Aag p.E209K NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) TTTGGGGTCTCTGAGGCAGCA 0.567000 30 67 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158325798 158325798 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:158325798C>T ENST00000444681.2 + 3 803 c.510C>T c.(508-510)ctC>ctT p.L170L CD1E_ENST00000368160.3_Silent_p.L269L|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368167.3_Silent_p.L269L|CD1E_ENST00000368166.3_Silent_p.L80L|CD1E_ENST00000434258.1_Silent_p.L267L|CD1E_ENST00000368165.3_Silent_p.L179L|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368156.1_Silent_p.L179L|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000452291.2_Silent_p.L80L|CD1E_ENST00000368157.1_Intron NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 269 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) CATGGTATCTCCGAGCAACCC 0.617000 38 178 0 0 1 0 0 CHRD 8646 broad.mit.edu 37 3 184103938 184103938 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:184103938C>T ENST00000204604.1 + 15 2169 c.1923C>T c.(1921-1923)ctC>ctT p.L641L EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Silent_p.L601L|CHRD_ENST00000545352.1_Silent_p.L271L|CHRD_ENST00000450923.1_Silent_p.L641L NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 641 CHRD 4. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GAGGGGAGCTCCGAGGGCAGG 0.632000 16 59 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156816385 156816385 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:156816385C>T ENST00000347377.6 + 29 3827 c.3396C>T c.(3394-3396)gcC>gcT p.A1132A CYFIP2_ENST00000541131.1_Silent_p.A1057A|CYFIP2_ENST00000522463.1_Silent_p.A936A|CYFIP2_ENST00000318218.6_Silent_p.A1157A|CYFIP2_ENST00000435847.2_Silent_p.A831A|CYFIP2_ENST00000377576.3_Silent_p.A1132A|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000521420.1_Silent_p.A1106A NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 1157 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGTGGAGCGCCATGCAGTTCG 0.622000 7 35 0 0 1 0 0 MSTO1 55154 broad.mit.edu 37 1 155717585 155717585 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:155717585C>T ENST00000452804.2 + 7 853 c.792C>T c.(790-792)ggC>ggT p.G264G MSTO1_ENST00000538143.1_3'UTR Q9BUK6 MSTO1_HUMAN misato 1, mitochondrial distribution and morphology regulator 237 mitochondrion distribution|protein polymerization mitochondrial outer membrane|protein complex breast(2)|endometrium(1)|lung(3)|skin(1) 7 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) TGCACGATGGCTTCTCTGGGG 0.562000 6 47 0 0 1 0 0 TF 7018 broad.mit.edu 37 3 133473506 133473506 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:133473506C>T ENST00000402696.3 + 4 978 c.493C>T c.(493-495)Ctt>Ttt p.L165F TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_Missense_Mutation_p.L38F NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 165 Transferrin-like 1. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) ACGTAAACCTCTTGAGAAAGG 0.567000 41 190 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480437 140480437 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:140480437C>T ENST00000231130.2 + 1 204 c.204C>T c.(202-204)tcC>tcT p.S68S AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 68 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAGTTGTGTCCAAAGGGAACA 0.512000 11 100 0 0 1 0 0 GOT1L1 137362 broad.mit.edu 37 8 37794358 37794358 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:37794358G>A ENST00000307599.4 - 6 742 c.643C>T c.(643-645)Ccc>Tcc p.P215S NM_152413.2 NP_689626.2 Q8NHS2 AATC2_HUMAN glutamic-oxaloacetic transaminase 1-like 1 215 biosynthetic process|cellular amino acid metabolic process cytoplasm pyridoxal phosphate binding|transaminase activity central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1) 14 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) ccttgacagggaatatcaaaa 0.408000 4 22 0 0 1 0 0 KIF5A 3798 broad.mit.edu 37 12 57958276 57958276 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:57958276C>T ENST00000455537.2 + 5 704 c.430C>T c.(430-432)Cgt>Tgt p.R144C KIF5A_ENST00000286452.5_Missense_Mutation_p.R55C NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 144 Kinesin-motor. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity p.R144C(1) breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 GGACAAAATTCGTGACCTTCT 0.418000 26 105 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210559080 210559080 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:210559080C>T ENST00000360351.4 + 7 2692 c.2186C>T c.(2185-2187)tCc>tTc p.S729F MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.S725F|MAP2_ENST00000199940.6_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 729 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) CCTCTGGCTTCCGATATTCTA 0.468000 20 168 0 0 1 0 0 SOX5 6660 broad.mit.edu 37 12 23699316 23699316 + Nonsense_Mutation SNP T T A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:23699316T>A ENST00000546136.1 - 11 1494 c.1492A>T c.(1492-1494)Aaa>Taa p.K498* SOX5_ENST00000545921.1_Nonsense_Mutation_p.K501*|SOX5_ENST00000451604.2_Nonsense_Mutation_p.K511*|SOX5_ENST00000381381.2_Nonsense_Mutation_p.K390*|SOX5_ENST00000396007.2_Nonsense_Mutation_p.K125*|SOX5_ENST00000309359.1_Nonsense_Mutation_p.K498*|SOX5_ENST00000537393.1_Nonsense_Mutation_p.K476*|SOX5_ENST00000541536.1_Nonsense_Mutation_p.K390* P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 511 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.K511*(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 TCATTCTGTTTAACTGCCAGT 0.313000 27 89 0 0 1 0 0 FAM8A1 51439 broad.mit.edu 37 6 17608469 17608469 + Missense_Mutation SNP T T G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:17608469T>G ENST00000259963.3 + 5 1196 c.1141T>G c.(1141-1143)Ttt>Gtt p.F381V NM_016255.2 NP_057339.1 Q9UBU6 FA8A1_HUMAN family with sequence similarity 8, member A1 381 RDD. integral to membrane endometrium(1)|large_intestine(2)|lung(3) 6 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.143) all cancers(50;0.176)|Epithelial(50;0.204) AATTGCTTCTTTTTTCCCTGC 0.348000 10 154 0 0 1 0 0 DRD2 1813 broad.mit.edu 37 11 113281570 113281570 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:113281570G>A ENST00000362072.3 - 8 1555 c.1211C>T c.(1210-1212)cCg>cTg p.P404L DRD2_ENST00000346454.3_Missense_Mutation_p.P375L|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000355319.2_Missense_Mutation_p.P406L|DRD2_ENST00000538967.1_Missense_Mutation_p.P406L|DRD2_ENST00000542968.1_Missense_Mutation_p.P404L|DRD2_ENST00000544518.1_Missense_Mutation_p.P403L NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 404 activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) CAGGACAGGCGGGATGTTGCA 0.562000 17 124 0 0 1 0 0 ACOXL 55289 broad.mit.edu 37 2 111551692 111551692 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:111551692G>A ENST00000389811.4 + 5 510 c.286G>A c.(286-288)Ggc>Agc p.G96S ACOXL_ENST00000439055.1_Missense_Mutation_p.G96S|ACOXL_ENST00000340561.4_Missense_Mutation_p.G96S Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like 96 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 GACCGAGAGGGGCCATGGGAG 0.552000 6 64 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110822001 110822001 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr13:110822001C>T ENST00000375820.4 - 43 3972 c.3851G>A c.(3850-3852)gGa>gAa p.G1284E NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1284 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) TCCAGGGTCTCCCTTGGGCCC 0.502000 10 78 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141578292 141578292 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr4:141578292G>A ENST00000442267.2 - 13 2370 c.2296C>T c.(2296-2298)Cct>Tct p.P766S NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 766 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) TCTACCTCAGGGTAAGGTTCC 0.493000 23 68 0 0 1 0 0 MAPKAPK2 9261 broad.mit.edu 37 1 206902417 206902417 + Nonsense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:206902417C>T ENST00000367103.3 + 3 650 c.457C>T c.(457-459)Cga>Tga p.R153* MAPKAPK2_ENST00000294981.4_Nonsense_Mutation_p.R153* NM_004759.4|NM_032960.3 NP_004750.1|NP_116584.2 P49137 MAPK2_HUMAN mitogen-activated protein kinase-activated protein kinase 2 153 Protein kinase. activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 19 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) AATCCAGGATCGAGGAGACCA 0.577000 8 48 0 0 1 0 0 MT-ND4 4538 broad.mit.edu 37 MT 11672 11672 + Missense_Mutation SNP A A C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrM:11672A>C ENST00000361381.2 + 1 913 c.913A>C c.(913-915)Acc>Ccc p.305_305insP mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 TTCTCATCCAAACCCCCTGAA 0.478000 3 40 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3241350 3241350 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrX:3241350C>T ENST00000217939.6 - 5 2530 c.2376G>A c.(2374-2376)ggG>ggA p.G792G NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 792 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GGAGATTTTTCCCACGGACTT 0.453000 27 56 0 0 1 0 0 USP54 159195 broad.mit.edu 37 10 75290531 75290531 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:75290531G>A ENST00000339859.4 - 12 1478 c.1378C>T c.(1378-1380)Cgc>Tgc p.R460C USP54_ENST00000319786.7_Missense_Mutation_p.R460C|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000428547.1_Missense_Mutation_p.R310C|USP54_ENST00000408019.1_Missense_Mutation_p.R460C|USP54_ENST00000394811.2_5'UTR Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 460 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) CTCCTCTTGCGCTCTATCAGT 0.502000 9 90 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59112911 59112911 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr14:59112911C>T ENST00000395153.3 + 4 1606 c.1459C>T c.(1459-1461)Ccc>Tcc p.P487S DACT1_ENST00000556859.1_Missense_Mutation_p.P243S|DACT1_ENST00000395151.3_Missense_Mutation_p.P243S|DACT1_ENST00000335867.4_Missense_Mutation_p.P524S|DACT1_ENST00000541264.2_Missense_Mutation_p.P243S NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 524 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 GGCCACTCCTCCCCTGCTGTC 0.602000 40 104 0 0 1 0 0 RAB11FIP4 84440 broad.mit.edu 37 17 29848353 29848353 + Missense_Mutation SNP G G C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:29848353G>C ENST00000325874.8 + 5 962 c.733G>C c.(733-735)Gac>Cac p.D245H RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.D143H NM_032932.3 NP_116321.2 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) 245 Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization. cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) CGTCTACTCGGACCTGGGGTC 0.567000 10 47 0 0 1 0 0 MCM6 4175 broad.mit.edu 37 2 136605704 136605704 + Missense_Mutation SNP G G A rs142938887 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:136605704G>A ENST00000264156.2 - 14 2032 c.1972C>T c.(1972-1974)Cgt>Tgt p.R658C MCM6_ENST00000492091.1_5'UTR NM_005915.5 NP_005906.2 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 658 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) GTTTCCACACGGATGATTGAT 0.393000 12 86 0 0 1 0 0 SPEM1 374768 broad.mit.edu 37 17 7324240 7324240 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:7324240C>T ENST00000323675.3 + 3 271 c.246C>T c.(244-246)ccC>ccT p.P82P RP11-104H15.7_ENST00000575310.1_RNA NM_199339.2 NP_955371.2 Q8N4L4 SPEM1_HUMAN spermatid maturation 1 82 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 12 Prostate(122;0.173) AGACCCAGCCCCCTAAGAAGC 0.597000 20 121 0 0 1 0 0 MAPK13 5603 broad.mit.edu 37 6 36107150 36107150 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:36107150G>A ENST00000211287.4 + 12 1360 c.1098G>A c.(1096-1098)taG>taA p.*366* MAPK13_ENST00000373766.5_3'UTR|MAPK13_ENST00000373761.6_Silent_p.*356* NM_002754.4 NP_002745.1 O15264 MK13_HUMAN mitogen-activated protein kinase 13 0 cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress ATP binding|MAP kinase activity|protein binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1) 12 TGAAGCTGTAGGGACTCATCT 0.537000 21 95 0 0 1 0 0 ZNF474 133923 broad.mit.edu 37 5 121488400 121488400 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:121488400C>T ENST00000296600.4 + 2 1098 c.715C>T c.(715-717)Cat>Tat p.H239Y ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA NM_207317.1 NP_997200.1 Q6S9Z5 ZN474_HUMAN zinc finger protein 474 239 intracellular zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1) 21 all_cancers(142;0.229)|Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415) CCTTCCTATTCATGAGCCCAA 0.527000 17 102 0 0 1 0 0 SULF1 23213 broad.mit.edu 37 8 70533446 70533446 + Silent SNP A A G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:70533446A>G ENST00000260128.4 + 14 2271 c.1554A>G c.(1552-1554)agA>agG p.R518R SULF1_ENST00000458141.2_Silent_p.R518R|SULF1_ENST00000402687.4_Silent_p.R518R|SULF1_ENST00000419716.3_Silent_p.R518R|SULF1_ENST00000521946.1_3'UTR NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 518 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) GAAGCCAAAGAAAGAGTCAAC 0.522000 4 36 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179481477 179481477 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:179481477C>T ENST00000589042.1 - 256 48363 c.48139G>A c.(48139-48141)Gaa>Aaa p.E16047K TTN_ENST00000342175.6_Missense_Mutation_p.E7174K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E6982K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E7107K|TTN_ENST00000591111.1_Missense_Mutation_p.E14406K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E13479K|TTN-AS1_ENST00000592630.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14406 Ig-like 99. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACATCAATTTCCCCAGAAATT 0.358000 19 139 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140251231 140251231 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:140251231G>A ENST00000458420.3 + 9 1600 c.1410G>A c.(1408-1410)atG>atA p.M470I NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 470 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CCTTATACATGGATGGAGCAA 0.433000 HNSCC(16;0.037) 17 115 0 0 1 0 0 ZNF395 55893 broad.mit.edu 37 8 28206666 28206666 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:28206666G>A ENST00000344423.5 - 9 1537 c.1406C>T c.(1405-1407)cCa>cTa p.P469L ZNF395_ENST00000523095.1_Missense_Mutation_p.P469L|ZNF395_ENST00000523202.1_Missense_Mutation_p.P469L NM_018660.2 NP_061130.1 Q9H8N7 ZN395_HUMAN zinc finger protein 395 469 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) GGCCCGGGGTGGAGAAGTGAC 0.652000 44 224 0 0 1 0 0 ANKRD45 339416 broad.mit.edu 37 1 173596204 173596204 + Splice_Site SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:173596204C>T ENST00000333279.2 - 4 651 c.591_splice c.e4+1 p.K197_splice NM_198493.2 NP_940895.1 Q5TZF3 ANR45_HUMAN ankyrin repeat domain 45 213 NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1) 12 AATACAGTACCTTGTCTTCCT 0.358000 24 93 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51900733 51900733 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:51900733G>A ENST00000268919.4 + 1 495 c.339G>A c.(337-339)acG>acA p.T113T NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 113 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GTACCGCCACGAAATGGGTTG 0.592000 36 129 0 0 1 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42162712 42162712 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr20:42162712C>T ENST00000444063.1 + 11 1440 c.1308C>T c.(1306-1308)gtC>gtT p.V436V L3MBTL1_ENST00000373135.3_Silent_p.V436V|L3MBTL1_ENST00000373134.1_Silent_p.V436V|L3MBTL1_ENST00000418998.1_Silent_p.V504V|L3MBTL1_ENST00000427442.2_Silent_p.V504V Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 436 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 CCTCTGCTGTCCCCACCTGGG 0.572000 28 94 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4153796 4153796 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:4153796C>T ENST00000404826.2 + 25 3852 c.3713C>T c.(3712-3714)aCc>aTc p.T1238I SDK1_ENST00000389531.3_Missense_Mutation_p.T1238I NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1238 Fibronectin type-III 6. cell adhesion integral to membrane 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) AGAGAATTCACCATCGAGGAG 0.632000 15 64 0 0 1 0 0 ZFP64 55734 broad.mit.edu 37 20 50768975 50768975 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr20:50768975G>A ENST00000216923.4 - 6 2105 c.1756C>T c.(1756-1758)Ctc>Ttc p.L586F ZFP64_ENST00000371515.4_Missense_Mutation_p.L584F|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Missense_Mutation_p.L532F|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 586 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 GTGGGGATGAGAGTCTGGTGC 0.607000 17 96 0 0 1 0 0 MAST3 23031 broad.mit.edu 37 19 18235113 18235113 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:18235113C>T ENST00000262811.5 + 9 795 c.795C>T c.(793-795)atC>atT p.I265I NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 265 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.I287I(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 TCAGCTTCATCGTCCAGCTTG 0.617000 4 25 0 0 1 0 0 CERS1 10715 broad.mit.edu 37 19 18995023 18995023 + Nonsense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:18995023G>A ENST00000427170.2 - 3 534 c.463C>T c.(463-465)Cag>Tag p.Q155* CERS1_ENST00000429504.2_Nonsense_Mutation_p.Q155*|CERS1_ENST00000542296.2_Nonsense_Mutation_p.Q57*|GDF1_ENST00000247005.6_5'UTR NM_001492.4|NM_021267.3 NP_001483.3|NP_067090.1 P27544 CERS1_HUMAN ceramide synthase 1 155 TLC. ceramide biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|microsome sphingosine N-acyltransferase activity endometrium(3)|lung(2) 5 AAGCTTCCCTGGAGCAGGTAG 0.602000 5 22 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27800836 27800836 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:27800836G>A ENST00000408964.2 + 1 1448 c.1397G>A c.(1396-1398)gGa>gAa p.G466E NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 466 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) ACAACCCCAGGACCACTGGGT 0.468000 12 85 0 0 1 0 0 PCDHA13 56136 broad.mit.edu 37 5 140262982 140262982 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:140262982C>T ENST00000289272.2 + 1 1129 c.1129C>T c.(1129-1131)Cgt>Tgt p.R377C PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R377C|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGTCCGATCGTGACTCTGG 0.507000 16 140 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38892012 38892012 + Nonsense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:38892012C>T ENST00000302328.3 - 25 4485 c.4287G>A c.(4285-4287)tgG>tgA p.W1429* SCN11A_ENST00000456224.3_Nonsense_Mutation_p.W1391*|SCN11A_ENST00000450244.1_Nonsense_Mutation_p.W1429*|SCN11A_ENST00000444237.2_Nonsense_Mutation_p.W1429* NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1429 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CAAATAAATTCCAGCCATTGG 0.383000 24 134 0 0 1 0 0 AGPAT2 10555 broad.mit.edu 37 9 139568309 139568309 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:139568309G>A ENST00000371696.2 - 6 797 c.732C>T c.(730-732)ctC>ctT p.L244L AGPAT2_ENST00000371694.3_Silent_p.L212L|AGPAT2_ENST00000538402.1_Silent_p.L244L NM_006412.3 NP_006403.2 O15120 PLCB_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 2 244 phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity endometrium(1)|large_intestine(1)|lung(2)|prostate(2) 6 all_cancers(76;0.0893)|all_epithelial(76;0.231) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123) AGGTGTCCACGAGCGCAGGGA 0.682000 8 14 0 0 1 0 0 UBAP2L 9898 broad.mit.edu 37 1 154197657 154197657 + Nonsense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:154197657C>T ENST00000428931.1 + 2 225 c.58C>T c.(58-60)Caa>Taa p.Q20* UBAP2L_ENST00000361546.2_Nonsense_Mutation_p.Q20*|UBAP2L_ENST00000343815.6_Nonsense_Mutation_p.Q20*|UBAP2L_ENST00000271877.7_Nonsense_Mutation_p.Q20* NM_014847.3 NP_055662.3 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like 20 binding of sperm to zona pellucida protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) ACCTCAAAACCAAAACCAGAC 0.453000 14 74 0 0 1 0 0 MIR1323 100302255 broad.mit.edu 37 19 54175230 54175230 + RNA SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:54175230C>T ENST00000408090.1 + 0 9 NR_031568.1 AGACTGAGGTCCTCAAAACTG 0.488000 29 141 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62871721 62871721 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr20:62871721G>A ENST00000536311.1 + 23 3731 c.3367G>A c.(3367-3369)Gac>Aac p.D1123N MYT1_ENST00000328439.1_Missense_Mutation_p.D1096N Q01538 MYT1_HUMAN myelin transcription factor 1 1096 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CACCCTCACCGACATGTACTC 0.562000 9 68 0 0 1 0 0 TLE6 79816 broad.mit.edu 37 19 2991877 2991877 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:2991877C>T ENST00000246112.4 + 14 1482 c.1281C>T c.(1279-1281)atC>atT p.I427I TLE6_ENST00000452088.1_Silent_p.I304I NM_001143986.1 NP_001137458.1 Q9H808 TLE6_HUMAN transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) 304 regulation of transcription, DNA-dependent nucleus breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCAAGAGTATCGTGGTCAAGG 0.557000 7 67 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97823438 97823438 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:97823438C>T ENST00000297293.5 + 11 3954 c.3661C>T c.(3661-3663)Cgc>Tgc p.R1221C NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 1221 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) ACAGGACGATCGCCCCTGCAC 0.617000 11 44 0 0 1 0 0 ZNF534 147658 broad.mit.edu 37 19 52941042 52941042 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:52941042G>A ENST00000332323.6 + 4 429 c.368G>A c.(367-369)gGa>gAa p.G123E ZNF534_ENST00000433050.1_Missense_Mutation_p.G110E|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron NM_001143939.1 NP_001137411.1 Q76KX8 ZN534_HUMAN zinc finger protein 534 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G123V(1) central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 AATCAACATGGATTAACTCTT 0.358000 8 34 0 0 1 0 0 FAM19A2 338811 broad.mit.edu 37 12 62104182 62104182 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:62104182C>T ENST00000551449.1 - 3 301 c.123G>A c.(121-123)caG>caA p.Q41Q FAM19A2_ENST00000416284.3_3'UTR|FAM19A2_ENST00000550003.1_3'UTR|FAM19A2_ENST00000551619.1_3'UTR Q8N3H0 F19A2_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 0 cytoplasm endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 15 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) TTGATTTCTCCTGGGTTAATG 0.328000 23 166 0 0 1 0 0 ACLY 47 broad.mit.edu 37 17 40042492 40042492 + Missense_Mutation SNP A A T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:40042492A>T ENST00000352035.2 - 18 2075 c.1945T>A c.(1945-1947)Tcc>Acc p.S649T ACLY_ENST00000537919.1_Missense_Mutation_p.S378T|ACLY_ENST00000590151.1_Missense_Mutation_p.S649T|ACLY_ENST00000393896.2_Missense_Mutation_p.S639T|ACLY_ENST00000353196.1_Missense_Mutation_p.S639T NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase 649 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) TACAGTTTGGAGGCCAGGATG 0.562000 16 57 0 0 1 0 0 NYAP1 222950 broad.mit.edu 37 7 100086610 100086610 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:100086610G>A ENST00000423930.1 + 4 1425 c.1266G>A c.(1264-1266)cgG>cgA p.R422R NYAP1_ENST00000454988.1_Silent_p.R365R|NYAP1_ENST00000300179.2_Silent_p.R422R Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 422 Pro-rich. GGGGGGAGCGGGAGCTCCCCA 0.756000 3 3 0 0 1 0 0 BAZ1B 9031 broad.mit.edu 37 7 72892707 72892707 + Missense_Mutation SNP G G A rs147580745 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:72892707G>A ENST00000339594.4 - 7 1422 c.1084C>T c.(1084-1086)Cct>Tct p.P362S BAZ1B_ENST00000404251.1_Missense_Mutation_p.P362S NM_032408.3 NP_115784.1 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 362 Lys-rich. ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding p.P362S(1) NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) TGTTCTTCAGGAGATTTGGAA 0.418000 6 41 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71061500 71061500 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:71061500C>T ENST00000321489.5 - 20 3197 c.3047G>A c.(3046-3048)aGg>aAg p.R1016K HYDIN_ENST00000448691.1_Missense_Mutation_p.R1016K|HYDIN_ENST00000448089.2_Intron|HYDIN_ENST00000393567.2_Intron NM_017558.3 NP_060028.2 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 0 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GTGCTATCCCCTTACCCTGGG 0.458000 6 59 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116599802 116599802 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:116599802G>A ENST00000410059.1 + 26 2752 c.2272G>A c.(2272-2274)Ggt>Agt p.G758S DPP10_ENST00000393147.2_Missense_Mutation_p.G762S|DPP10_ENST00000409163.1_Missense_Mutation_p.G708S|DPP10_ENST00000310323.8_Missense_Mutation_p.G751S NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 758 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 CCCAGATGAAGGTCATAACGT 0.393000 6 40 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802688 185802688 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:185802688G>A ENST00000302277.6 + 4 3159 c.2565G>A c.(2563-2565)gaG>gaA p.E855E NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 855 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 ACAAAAAAGAGAAAATGAAAC 0.333000 3 34 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20683155 20683155 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:20683155C>T ENST00000404938.2 + 7 1230 c.578C>T c.(577-579)tCg>tTg p.S193L NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 379 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity p.S193L(1)|p.S193*(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 TCTACTTTTTCGATTGGCCTG 0.423000 21 101 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22902822 22902822 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:22902822G>A ENST00000166244.3 + 3 344 c.272G>A c.(271-273)cGa>cAa p.R91Q EPHA8_ENST00000538803.1_Missense_Mutation_p.R91Q|EPHA8_ENST00000374644.4_Missense_Mutation_p.R91Q NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 91 integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TGGGTCCCCCGAGACGGCGCC 0.612000 12 72 0 0 1 0 0 MIR498 574460 broad.mit.edu 37 19 54177462 54177462 + RNA SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:54177462G>A ENST00000385134.1 + 0 12 NR_030182.1 ACCCTCCTTGGGAAGTGAAGC 0.478000 10 121 0 0 1 0 0 CGREF1 10669 broad.mit.edu 37 2 27325067 27325067 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:27325067G>A ENST00000402394.1 - 5 508 c.240C>T c.(238-240)ctC>ctT p.L80L CGREF1_ENST00000405600.1_Silent_p.L80L|CGREF1_ENST00000404694.3_Silent_p.L202L|CGREF1_ENST00000312734.4_Silent_p.L80L|CGREF1_ENST00000452318.2_5'UTR|CGREF1_ENST00000402550.1_Silent_p.L80L|CGREF1_ENST00000260595.5_Silent_p.L80L NM_006569.5 NP_006560.3 Q99674 CGRE1_HUMAN cell growth regulator with EF-hand domain 1 80 EF-hand 1. cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress extracellular region calcium ion binding kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CATAGTCATGGAGGGCAAAGA 0.577000 5 26 0 0 1 0 0 ADD1 118 broad.mit.edu 37 4 2906795 2906795 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr4:2906795C>T ENST00000398125.1 + 10 1654 c.1466C>T c.(1465-1467)tCg>tTg p.S489L ADD1_ENST00000398123.2_Missense_Mutation_p.S489L|ADD1_ENST00000503455.2_Missense_Mutation_p.S489L|ADD1_ENST00000446856.1_Intron|ADD1_ENST00000513328.2_Intron|ADD1_ENST00000264758.7_Missense_Mutation_p.S489L|ADD1_ENST00000355842.3_Intron|ADD1_ENST00000398129.1_Intron NM_014190.3|NM_176801.2 NP_054909.2|NP_789771.1 P35611 ADDA_HUMAN adducin 1 (alpha) 471 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CAGTCTCTCTCGTCCGGTGTC 0.522000 20 74 0 0 1 0 0 PZP 5858 broad.mit.edu 37 12 9318781 9318781 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:9318781C>T ENST00000261336.2 - 18 2153 c.2125G>A c.(2125-2127)Gag>Aag p.E709K PZP_ENST00000381997.2_Missense_Mutation_p.E578K|PZP_ENST00000539983.1_5'UTR NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 TATGGTCTCTCTACTACTCCT 0.378000 11 44 0 0 1 0 0 MMP21 118856 broad.mit.edu 37 10 127464369 127464369 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:127464369G>A ENST00000368808.3 - 1 21 c.22C>T c.(22-24)Cgt>Tgt p.R8C NM_147191.1 NP_671724.1 Q8N119 MMP21_HUMAN matrix metallopeptidase 21 8 proteolysis extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 16 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) AGTGTCGGACGGAAGATGGAG 0.667000 21 71 0 0 1 0 0 GRIK4 2900 broad.mit.edu 37 11 120837921 120837921 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:120837921G>A ENST00000527524.2 + 19 2571 c.2284G>A c.(2284-2286)Gag>Aag p.E762K GRIK4_ENST00000438375.2_Missense_Mutation_p.E762K Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 762 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) TTTCCGGGACGAGTTTGATCT 0.592000 7 55 0 0 1 0 0 GPR75 10936 broad.mit.edu 37 2 54081467 54081467 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:54081467G>A ENST00000394705.2 - 2 697 c.427C>T c.(427-429)Cgg>Tgg p.R143W ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron NM_006794.3 NP_006785.1 O95800 GPR75_HUMAN G protein-coupled receptor 75 143 integral to plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) ATCCGGAGCCGGTGCAGGGCG 0.562000 11 132 0 0 1 0 0 LY9 4063 broad.mit.edu 37 1 160786653 160786653 + Splice_Site SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:160786653G>A ENST00000263285.5 + 5 1372 c.1342_splice c.e5+1 p.G448_splice LY9_ENST00000368041.2_Intron|LY9_ENST00000368035.1_Splice_Site_p.G100_splice|LY9_ENST00000341032.4_Intron|LY9_ENST00000368040.1_Splice_Site_p.G100_splice NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 448 Ig-like C2-type 2. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CATCTGTTCAGGTTTCTCTCC 0.493000 13 91 0 0 1 0 0 ZNF112 7665 broad.mit.edu 37 19 44833296 44833296 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:44833296G>A ENST00000354340.4 - 4 1065 c.1014C>T c.(1012-1014)tcC>tcT p.S338S ZNF112_ENST00000536500.1_Silent_p.S361S|ZNF112_ENST00000337401.4_Silent_p.S344S NM_013380.3 NP_037512.3 zinc finger protein 112 TGTTAAGAGGGGAACAGTGAT 0.378000 7 75 0 0 1 0 0 FPR2 2358 broad.mit.edu 37 19 52272677 52272677 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:52272677C>T ENST00000598776.1 + 2 1538 c.766C>T c.(766-768)Ccc>Tcc p.P256S FPR2_ENST00000598953.1_Missense_Mutation_p.P256S|FPR2_ENST00000340023.6_Missense_Mutation_p.P256S NM_001462.3 NP_001453.1 P25090 FPR2_HUMAN formyl peptide receptor 2 256 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity p.P256S(1) endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 CTGTTGGTTTCCCTTTCAACT 0.488000 4 36 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6167054 6167054 + Missense_Mutation SNP T T C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:6167054T>C ENST00000261405.5 - 14 1944 c.1690A>G c.(1690-1692)Aag>Gag p.K564E NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 564 VWFD 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CTGTGCTGCTTCTGCAGGTCC 0.657000 36 171 0 0 1 0 0 ECE2 9718 broad.mit.edu 37 3 184008046 184008046 + Missense_Mutation SNP G G A rs142884324 byFrequency TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:184008046G>A ENST00000402825.3 + 14 1909 c.1909G>A c.(1909-1911)Gaa>Aaa p.E637K ECE2_ENST00000359140.4_Missense_Mutation_p.E490K|ECE2_ENST00000357474.5_Missense_Mutation_p.E565K|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.E519K NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 637 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCCACAGTACGAAATTTCTGA 0.448000 4 21 0 0 1 0 0 UTP20 27340 broad.mit.edu 37 12 101746874 101746874 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:101746874G>A ENST00000261637.4 + 40 5248 c.5074G>A c.(5074-5076)Gaa>Aaa p.E1692K NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 1692 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 CAAAACTCTTGAAGAACAAAT 0.264000 5 64 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54804803 54804803 + Nonsense_Mutation SNP T T A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:54804803T>A ENST00000306858.7 + 5 1150 c.1034T>A c.(1033-1035)tTa>tAa p.L345* NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 345 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) ATATATACTTTAAATGAACAT 0.343000 10 66 0 0 1 0 0 OGDH 4967 broad.mit.edu 37 7 44706363 44706363 + Missense_Mutation SNP C C T rs140413676 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:44706363C>T ENST00000439616.2 + 3 360 c.251C>T c.(250-252)tCg>tTg p.S84L OGDH_ENST00000444676.1_Silent_p.L197L|OGDH_ENST00000459672.1_3'UTR|OGDH_ENST00000443864.2_Silent_p.L182L|OGDH_ENST00000449767.1_Silent_p.L178L|OGDH_ENST00000447398.1_Silent_p.L193L|OGDH_ENST00000222673.5_Silent_p.L182L|OGDH_ENST00000543843.1_Silent_p.L133L Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 81 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) AGTCTGACCTCGACAAGGTCT 0.577000 29 139 0 0 1 0 0 SAMHD1 25939 broad.mit.edu 37 20 35579932 35579932 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr20:35579932G>A ENST00000262878.4 - 1 314 c.115C>T c.(115-117)Cat>Tat p.H39Y SAMHD1_ENST00000373694.5_5'UTR NM_015474.3 NP_056289.2 Q9Y3Z3 SAMH1_HUMAN SAM domain and HD domain 1 39 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) TAGTCGGGATGGAGTTCCAGG 0.637000 52 278 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150945927 150945927 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:150945927G>A ENST00000261800.5 - 1 2578 c.2566C>T c.(2566-2568)Cgc>Tgc p.R856C NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 856 Cadherin 7. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGGGTGTAGCGAACCCTGCCA 0.542000 8 67 0 0 1 0 0 BSDC1 55108 broad.mit.edu 37 1 32842311 32842311 + Silent SNP T T A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:32842311T>A ENST00000341071.7 - 9 770 c.759A>T c.(757-759)ccA>ccT p.P253P BSDC1_ENST00000526031.1_Silent_p.P141P|BSDC1_ENST00000413080.1_Silent_p.P175P|BSDC1_ENST00000419121.2_Silent_p.P180P|BSDC1_ENST00000446293.2_Silent_p.P253P|BSDC1_ENST00000455895.2_Silent_p.P236P|BSDC1_ENST00000449308.1_Silent_p.P236P Q9NW68 BSDC1_HUMAN BSD domain containing 1 236 protein binding breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TTGCCTCTTTTGGAGATATGG 0.512000 16 35 0 0 1 0 0 CYP19A1 1588 broad.mit.edu 37 15 51507963 51507963 + Silent SNP C C T rs141974163 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr15:51507963C>T ENST00000396402.1 - 7 948 c.795G>A c.(793-795)agG>agA p.R265R CYP19A1_ENST00000559878.1_Silent_p.R265R|CYP19A1_ENST00000260433.2_Silent_p.R265R|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Silent_p.R265R NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 265 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) CTGTGGAAATCCTGCGTCTTT 0.373000 13 112 0 0 1 0 0 NPTX2 4885 broad.mit.edu 37 7 98254283 98254283 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:98254283C>T ENST00000265634.3 + 3 858 c.693C>T c.(691-693)ctC>ctT p.L231L NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 231 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) CCCTCCCACTCCGCACAAACT 0.592000 42 281 0 0 1 0 0 BCL7B 9275 broad.mit.edu 37 7 72966521 72966521 + Nonsense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:72966521C>T ENST00000223368.2 - 2 567 c.144G>A c.(142-144)tgG>tgA p.W48* BCL7B_ENST00000482231.1_5'UTR|BCL7B_ENST00000411832.1_Nonsense_Mutation_p.W48* NM_001707.3 NP_001698.2 Q9BQE9 BCL7B_HUMAN B-cell CLL/lymphoma 7B 48 actin binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 9 Lung NSC(55;0.0659)|all_lung(88;0.152) TCACAGGAACCCACTTAAATA 0.368000 22 114 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38407152 38407152 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:38407152C>T ENST00000322350.5 + 8 1397 c.1051C>T c.(1051-1053)Ctc>Ttc p.L351F EGFLAM_ENST00000336740.6_Missense_Mutation_p.L117F|EGFLAM_ENST00000354891.3_Missense_Mutation_p.L351F|EGFLAM_ENST00000397202.2_Intron NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 351 EGF-like 1. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TGATGAAACTCTCTGCTCTGC 0.552000 8 72 0 0 1 0 0 ELMO2 63916 broad.mit.edu 37 20 45014813 45014813 + Missense_Mutation SNP C C A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr20:45014813C>A ENST00000372176.1 - 9 831 c.363G>T c.(361-363)caG>caT p.Q121H ELMO2_ENST00000352077.2_Missense_Mutation_p.Q207H|ELMO2_ENST00000439931.2_Missense_Mutation_p.Q209H|ELMO2_ENST00000445496.2_Missense_Mutation_p.Q26H|ELMO2_ENST00000396391.1_Missense_Mutation_p.Q209H|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000290246.6_Missense_Mutation_p.Q209H Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 209 apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1) 16 Myeloproliferative disorder(115;0.0122) CGGCTATCTTCTGGTACAGAC 0.532000 17 123 1.56452e-12 1.59007e-12 1 1 0 RNF6 6049 broad.mit.edu 37 13 26788126 26788126 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr13:26788126G>A ENST00000381588.4 - 5 2645 c.1893C>T c.(1891-1893)atC>atT p.I631I RNF6_ENST00000399762.2_Silent_p.I275I|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Silent_p.I631I|RNF6_ENST00000381570.3_Silent_p.I631I NM_005977.3 NP_005968.1 Q9Y252 RNF6_HUMAN ring finger protein (C3H2C3 type) 6 631 Required for polyubiquitination (By similarity). negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process axon|cytoplasm|PML body androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2) 23 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245) AAACACTACAGATTTTACCTA 0.383000 11 132 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48696750 48696750 + Silent SNP G G A rs149132560 byFrequency TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:48696750G>A ENST00000544264.1 - 1 3598 c.3318C>T c.(3316-3318)atC>atT p.I1106I CELSR3_ENST00000164024.4_Silent_p.I1106I Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 1106 Cadherin 8. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding p.I1106I(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TCCCCTCCACGATCTGGTACA 0.522000 24 94 0 0 1 0 0 SLC22A20 440044 broad.mit.edu 37 11 64985141 64985141 + RNA SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:64985141C>T ENST00000525437.1 + 0 654 A6NK97 S22AK_HUMAN ion transport integral to membrane transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2) 8 CTGGCATCATCCTCAACTCCG 0.647000 20 51 0 0 1 0 0 MARCH10 162333 broad.mit.edu 37 17 60788641 60788641 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:60788641C>T ENST00000544856.2 - 10 2654 c.2276G>A c.(2275-2277)aGg>aAg p.R759K RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.R798K|MARCH10_ENST00000311269.5_Missense_Mutation_p.R760K|MARCH10_ENST00000456609.2_Missense_Mutation_p.R760K|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 760 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 TTCTGCAAACCTCTGCTCATA 0.507000 8 136 0 0 1 0 0 PCDHA13 56136 broad.mit.edu 37 5 140262025 140262025 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:140262025G>A ENST00000289272.2 + 1 172 c.172G>A c.(172-174)Gag>Aag p.E58K PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.E58K|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGCTGGCGGAGCTGGTGCC 0.607000 9 89 0 0 1 0 0 NUTM1 256646 broad.mit.edu 37 15 34640478 34640478 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr15:34640478C>T ENST00000537011.1 + 3 791 c.409C>T c.(409-411)Ctt>Ttt p.L137F NUTM1_ENST00000438749.3_Missense_Mutation_p.L127F|NUTM1_ENST00000333756.4_Missense_Mutation_p.L109F NUT midline carcinoma, family member 1 GAACTTTATCCTTACTCAGAC 0.562000 11 81 0 0 1 0 0 RAP1GDS1 5910 broad.mit.edu 37 4 99325744 99325744 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr4:99325744G>A ENST00000408927.3 + 7 867 c.754G>A c.(754-756)Gca>Aca p.A252T RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.A253T|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.A203T|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.A204T|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.A161T|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.A253T NM_001100426.1|NM_001100427.1|NM_021159.4 NP_001093896.1|NP_001093897.1|NP_066982.3 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 252 binding|GTPase activator activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1) 28 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) TGCTCCATTGGCAGAAAATGG 0.323000 T NUP98 T-ALL 5 61 0 0 1 0 0 SOX1 6656 broad.mit.edu 37 13 112722185 112722185 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr13:112722185G>A ENST00000330949.1 + 1 273 c.213G>A c.(211-213)caG>caA p.Q71Q NM_005986.2 NP_005977.2 O00570 SOX1_HUMAN SRY (sex determining region Y)-box 1 71 chromatin organization nucleus core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4) 4 all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231) OV - Ovarian serous cystadenocarcinoma(48;0.132) AGATGGCCCAGGAGAACCCCA 0.682000 7 32 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179542492 179542492 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:179542492C>T ENST00000589042.1 - 146 34371 c.34147G>A c.(34147-34149)Gaa>Aaa p.E11383K TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E11066K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10139K|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11066 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGTAGAACTTCCTCTTCTTCA 0.423000 14 114 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40770557 40770557 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr20:40770557G>A ENST00000373198.3 - 19 3069 c.2834C>T c.(2833-2835)tCc>tTc p.S945F PTPRT_ENST00000373190.1_Missense_Mutation_p.S922F|PTPRT_ENST00000373193.3_Missense_Mutation_p.S926F|PTPRT_ENST00000356100.2_Missense_Mutation_p.S932F|PTPRT_ENST00000373184.1_Missense_Mutation_p.S913F|PTPRT_ENST00000373201.1_Missense_Mutation_p.S913F|PTPRT_ENST00000373187.1_Missense_Mutation_p.S923F NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 923 Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GCACCTACAGGATATGATGTT 0.453000 40 211 0 0 1 0 0 PABPC4 8761 broad.mit.edu 37 1 40034558 40034558 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:40034558G>A ENST00000372857.3 - 6 1584 c.792C>T c.(790-792)ggC>ggT p.G264G PABPC4_ENST00000372858.3_Silent_p.G264G|PABPC4_ENST00000529216.1_5'UTR|PABPC4_ENST00000372862.3_Silent_p.G264G|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372856.3_Silent_p.G264G NM_003819.3 NP_003810.1 Q13310 PABP4_HUMAN poly(A) binding protein, cytoplasmic 4 (inducible form) 264 RRM 3. blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3) 21 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TTTGTGCACGGCCTACAAATA 0.393000 15 145 0 0 1 0 0 PHYH 5264 broad.mit.edu 37 10 13336470 13336470 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:13336470G>A ENST00000396920.3 - 4 719 c.315C>T c.(313-315)ttC>ttT p.F105F PHYH_ENST00000396913.2_Silent_p.F24F|PHYH_ENST00000263038.4_Silent_p.F124F O14832 PAHX_HUMAN phytanoyl-CoA 2-hydroxylase 124 fatty acid alpha-oxidation|nervous system development peroxisomal matrix electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 25 Ovarian(717;0.0448) Antihemophilic Factor(DB00025)|Vitamin C(DB00126) TATCTTCCTGGAAATCCTGGA 0.468000 12 78 0 0 1 0 0 MIB2 142678 broad.mit.edu 37 1 1558805 1558805 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:1558805C>T ENST00000357210.4 + 3 363 c.147C>T c.(145-147)gcC>gcT p.A49A MIB2_ENST00000504599.1_Silent_p.A5A|MIB2_ENST00000520777.1_Silent_p.A106A|MIB2_ENST00000518681.1_Silent_p.A106A|MIB2_ENST00000355826.5_Intron|MIB2_ENST00000512004.1_3'UTR|MIB2_ENST00000378708.1_Intron|MIB2_ENST00000360522.4_Silent_p.A49A|MIB2_ENST00000378712.1_Intron|MIB2_ENST00000378710.3_Silent_p.A49A|MIB2_ENST00000505820.2_Silent_p.A106A NM_080875.2 NP_543151.2 Q96AX9 MIB2_HUMAN mindbomb E3 ubiquitin protein ligase 2 49 Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1) 18 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) ACCCCTCTGCCCACAGGTCCC 0.716000 7 13 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19467963 19467963 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:19467963G>A ENST00000375267.2 - 57 8369 c.8366C>T c.(8365-8367)cCc>cTc p.P2789L UBR4_ENST00000375226.2_Missense_Mutation_p.P2800L|UBR4_ENST00000375254.3_Missense_Mutation_p.P2789L|UBR4_ENST00000375217.2_Missense_Mutation_p.P2817L Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 2789 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GGCCTCCAGGGGAGAGGGGTT 0.567000 7 78 0 0 1 0 0 OR5L2 26338 broad.mit.edu 37 11 55595578 55595578 + Missense_Mutation SNP A A G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:55595578A>G ENST00000378397.1 + 1 884 c.884A>G c.(883-885)aAg>aGg p.K295R NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) CTGAGAAATAAGGATGTGAAC 0.463000 HNSCC(27;0.073) 9 47 0 0 1 0 0 C8B 732 broad.mit.edu 37 1 57399072 57399072 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:57399072G>A ENST00000543257.1 - 11 1898 c.1332C>T c.(1330-1332)ttC>ttT p.F444F C8B_ENST00000535057.1_Silent_p.F434F|C8B_ENST00000371237.4_Silent_p.F496F NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 496 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 CTTCCTTCTGGAACTCCTCCA 0.532000 4 72 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92086894 92086894 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:92086894C>T ENST00000298047.6 + 1 1633 c.1616C>T c.(1615-1617)tCc>tTc p.S539F FAT3_ENST00000525166.1_Missense_Mutation_p.S389F|FAT3_ENST00000409404.2_Missense_Mutation_p.S539F|FAT3_ENST00000541502.1_Missense_Mutation_p.S539F Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 539 Cadherin 5. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TTTGAATCCTCCCCAGAAATT 0.393000 TCGA Ovarian(4;0.039) 16 92 0 0 1 0 0 LILRA2 11027 broad.mit.edu 37 19 55086301 55086301 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:55086301C>T ENST00000251377.3 + 5 589 c.456C>T c.(454-456)ttC>ttT p.F152F LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000251376.3_Silent_p.F152F|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Silent_p.F152F|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Silent_p.F140F leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) TTGACGGCTTCATTCTGTGTA 0.587000 31 133 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197404357 197404357 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:197404357G>A ENST00000367397.1 + 5 2365 c.1507G>A c.(1507-1509)Gaa>Aaa p.E503K CRB1_ENST00000367400.3_Missense_Mutation_p.E1122K|CRB1_ENST00000367399.2_Missense_Mutation_p.E1010K|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.E603K|CRB1_ENST00000535699.1_Missense_Mutation_p.E1098K P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1122 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.Q1121_E1122>H*(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TAAACCTCAGGAAGAGCAATT 0.398000 17 95 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115350520 115350520 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:115350520C>T ENST00000369358.4 - 40 5041 c.4797G>A c.(4795-4797)aaG>aaA p.K1599K NRAP_ENST00000369360.3_Silent_p.K1564K|NRAP_ENST00000360478.3_Silent_p.K1556K|NRAP_ENST00000359988.3_Silent_p.K1591K Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 1591 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TGGCAAAGTCCTTCTTGTACT 0.572000 29 114 0 0 1 0 0 ENTHD2 146705 broad.mit.edu 37 17 79205669 79205669 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:79205669C>T ENST00000374769.2 - 9 904 c.427G>A c.(427-429)Gag>Aag p.E143K ENTHD2_ENST00000300714.3_Missense_Mutation_p.E227K|AC027601.1_ENST00000575922.1_RNA|AC027601.1_ENST00000569559.1_RNA ENTH domain containing 2 TCACCCGGCTCCCGGCTGGCC 0.662000 7 116 0 0 1 0 0 NOL6 65083 broad.mit.edu 37 9 33470070 33470070 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr9:33470070G>A ENST00000379471.2 - 4 585 c.498C>T c.(496-498)taC>taT p.Y166Y NOL6_ENST00000455041.2_Intron|NOL6_ENST00000464829.1_5'UTR Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 166 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) TGCCCAGAAGGTAGCTGCCCA 0.607000 9 56 0 0 1 0 0 GABRA1 2554 broad.mit.edu 37 5 161281227 161281227 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:161281227G>A ENST00000428797.2 + 4 493 c.138G>A c.(136-138)ttG>ttA p.L46L GABRA1_ENST00000420560.1_Silent_p.L46L|GABRA1_ENST00000023897.6_Silent_p.L46L|GABRA1_ENST00000444819.1_Silent_p.L46L|GABRA1_ENST00000437025.2_Silent_p.L46L|GABRA1_ENST00000393943.4_Silent_p.L46L NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 46 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) CCAGGATTTTGGACAGACTCC 0.363000 12 102 0 0 1 0 0 CPNE2 221184 broad.mit.edu 37 16 57147363 57147363 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:57147363C>T ENST00000535318.2 + 4 705 c.344C>T c.(343-345)tCc>tTc p.S115F CPNE2_ENST00000565874.1_Missense_Mutation_p.S115F|CPNE2_ENST00000290776.8_Missense_Mutation_p.S115F|CPNE2_ENST00000537605.1_Missense_Mutation_p.S13F Q96FN4 CPNE2_HUMAN copine II 115 C2 1. central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5) 21 all_neural(199;0.224) GGCCAGTTCTCCTGCAGCCTG 0.597000 13 31 0 0 1 0 0 CYP3A5 1577 broad.mit.edu 37 7 99264287 99264287 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:99264287C>T ENST00000343703.5 - 7 814 c.428G>A c.(427-429)gGa>gAa p.G143E CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000222982.4_Missense_Mutation_p.G153E cytochrome P450, family 3, subfamily A, polypeptide 5 NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) CAATACATCTCCATACTGGGC 0.478000 23 149 0 0 1 0 0 FAM105A 54491 broad.mit.edu 37 5 14610325 14610325 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:14610325G>A ENST00000274217.3 + 8 1093 c.973G>A c.(973-975)Gac>Aac p.D325N NM_019018.2 NP_061891.1 Q9NUU6 F105A_HUMAN family with sequence similarity 105, member A 325 large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Lung NSC(4;0.00592) TAACTCCAGAGACTTTGAAGT 0.458000 11 76 0 0 1 0 0 DNMBP 23268 broad.mit.edu 37 10 101716029 101716029 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:101716029G>A ENST00000342239.3 - 4 1293 c.1202C>T c.(1201-1203)cCc>cTc p.P401L DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Missense_Mutation_p.P401L Q6XZF7 DNMBP_HUMAN dynamin binding protein 401 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) GTCAGATGTGGGAGAGTCTGT 0.517000 24 98 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17482077 17482077 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:17482077G>A ENST00000302539.4 - 6 1094 c.969C>T c.(967-969)atC>atT p.I323I ABCC8_ENST00000389817.3_Silent_p.I323I NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 323 ABC transmembrane type-1 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) GGTGGTCCACGATCCCAAAGA 0.602000 19 151 0 0 1 0 0 HSP90AB2P 391634 broad.mit.edu 37 4 13339612 13339612 + RNA SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr4:13339612G>A ENST00000602906.1 + 0 963 kidney(3)|lung(1) 4 AGCAAGTATGGAAGCGGGACT 0.483000 6 29 0 0 1 0 0 HNRNPL 3191 broad.mit.edu 37 19 39336578 39336578 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:39336578G>A ENST00000221419.5 - 3 905 c.539C>T c.(538-540)tCc>tTc p.S180F HNRNPL_ENST00000600873.1_Missense_Mutation_p.S47F NM_001533.2 NP_001524.2 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 180 nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) CCCAGGGCGGGAGATCTTCTG 0.542000 20 189 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53774333 53774333 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:53774333C>T ENST00000288139.3 + 22 2956 c.2838C>T c.(2836-2838)ttC>ttT p.F946F CACNA1D_ENST00000422281.2_Silent_p.F926F|CACNA1D_ENST00000350061.5_Silent_p.F926F NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 926 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) ACTATGCCTTCACAGCCATCT 0.423000 37 160 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19337405 19337405 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:19337405G>A ENST00000252575.5 + 7 1226 c.1183G>A c.(1183-1185)Gag>Aag p.E395K NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 395 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) GCCCACCCTGGAGGAGGAAGA 0.577000 5 34 0 0 1 0 0 FOLR1 2348 broad.mit.edu 37 11 71906414 71906414 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:71906414G>A ENST00000393679.1 + 3 704 c.268G>A c.(268-270)Gga>Aga p.G90R FOLR1_ENST00000393676.3_Missense_Mutation_p.G90R|FOLR1_ENST00000393681.2_Missense_Mutation_p.G90R|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000312293.4_Missense_Mutation_p.G90R P15328 FOLR1_HUMAN folate receptor 1 (adult) 90 cell death|folic acid transport|receptor-mediated endocytosis anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction folic acid binding|receptor activity cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 14 GAACCACTGTGGAGAGATGGC 0.547000 52 301 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18552700 18552700 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:18552700G>A ENST00000433979.1 + 15 2227 c.2111G>A c.(2110-2112)aGg>aAg p.R704K PIK3C2G_ENST00000266497.5_Missense_Mutation_p.R704K|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R745K NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 704 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) TGGGATGAAAGGACTGTTTCA 0.398000 16 52 0 0 1 0 0 ACPP 55 broad.mit.edu 37 3 132071617 132071617 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:132071617C>T ENST00000336375.5 + 9 1008 c.918C>T c.(916-918)ctC>ctT p.L306L ACPP_ENST00000351273.7_Silent_p.L306L|ACPP_ENST00000475741.1_Silent_p.L273L NM_001099.4 NP_001090.2 P15309 PPAP_HUMAN acid phosphatase, prostate 306 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 27 ACAACGGACTCCTTCCTCCCT 0.433000 19 102 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216062196 216062196 + Nonsense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:216062196G>A ENST00000366943.2 - 41 8181 c.7795C>T c.(7795-7797)Cag>Tag p.Q2599* RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Nonsense_Mutation_p.Q2599* O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2599 Fibronectin type-III 12. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GCTTCTACCTGAAACTTATAG 0.463000 HNSCC(13;0.011) 22 103 0 0 1 0 0 SLC4A10 57282 broad.mit.edu 37 2 162735658 162735658 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:162735658G>A ENST00000375514.5 + 9 1196 c.909G>A c.(907-909)atG>atA p.M303I SLC4A10_ENST00000421911.1_Missense_Mutation_p.M322I|SLC4A10_ENST00000415876.2_Missense_Mutation_p.M292I|SLC4A10_ENST00000272716.5_Missense_Mutation_p.M292I|SLC4A10_ENST00000535165.1_Missense_Mutation_p.M322I|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000446997.1_Missense_Mutation_p.M322I NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 322 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TGCATTTTATGAAAAAGATTC 0.398000 4 51 0 0 1 0 0 EPHA1 2041 broad.mit.edu 37 7 143096875 143096875 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:143096875G>A ENST00000275815.3 - 4 790 c.704C>T c.(703-705)gCg>gTg p.A235V NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 235 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) GCTGGCCCGCGCGTGGGGCAA 0.677000 5 18 0 0 1 0 0 ZSCAN29 146050 broad.mit.edu 37 15 43656349 43656349 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr15:43656349G>A ENST00000396976.2 - 4 1588 c.1454C>T c.(1453-1455)cCc>cTc p.P485L ZSCAN29_ENST00000562072.1_Missense_Mutation_p.P484L|ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000568898.1_Intron NM_152455.3 NP_689668.3 Q8IWY8 ZSC29_HUMAN zinc finger and SCAN domain containing 29 485 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2) 24 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.97e-07) TTCAAAGAAGGGACAGGTCTC 0.532000 13 114 0 0 1 0 0 PRRT1 80863 broad.mit.edu 37 6 32119658 32119658 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:32119658C>T ENST00000375150.2 - 3 211 c.27G>A c.(25-27)ccG>ccA p.P9P PRRT1_ENST00000211413.5_5'UTR|PRRT1_ENST00000375152.2_Silent_p.P9P Q99946 PRRT1_HUMAN proline-rich transmembrane protein 1 92 response to biotic stimulus integral to membrane breast(2)|endometrium(1)|kidney(1)|lung(2) 6 GGTCCTCGGCCGGTGCTGGAG 0.677000 26 59 0 0 1 0 0 FAM19A5 25817 broad.mit.edu 37 22 49042449 49042449 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr22:49042449C>T ENST00000358295.5 + 2 307 c.132C>T c.(130-132)gaC>gaT p.D44D FAM19A5_ENST00000473898.1_Intron|FAM19A5_ENST00000402357.1_Silent_p.D51D NM_015381.5 NP_056196.2 Q7Z5A7 F19A5_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 51 extracellular region|integral to membrane p.D44D(1)|p.D51D(1) large_intestine(1)|lung(6) 7 all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195) UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119) TGACCTTGGACCGGGACAGCA 0.677000 5 64 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136594258 136594258 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:136594258G>A ENST00000264162.2 - 1 492 c.482C>T c.(481-483)tCc>tTc p.S161F NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 161 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) GTCCCCGAAGGAGTGGAAGGC 0.572000 8 59 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73680711 73680711 + Missense_Mutation SNP T T C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:73680711T>C ENST00000264448.6 + 8 7165 c.7054T>C c.(7054-7056)Ttt>Ctt p.F2352L ALMS1_ENST00000377715.1_Missense_Mutation_p.F2352L|ALMS1_ENST00000409009.1_Missense_Mutation_p.F2310L NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2352 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 AAATTGGGAGTTTATTAGTTC 0.433000 7 54 0 0 1 0 0 NEK10 152110 broad.mit.edu 37 3 27333070 27333070 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:27333070G>A ENST00000429845.2 - 18 1743 c.1381C>T c.(1381-1383)Ccc>Tcc p.P461S NEK10_ENST00000341435.5_Missense_Mutation_p.P461S Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 461 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 AAGTCTGTGGGGAAAAGTCTA 0.358000 5 33 0 0 1 0 0 CAND2 23066 broad.mit.edu 37 3 12854889 12854889 + Splice_Site SNP T T C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:12854889T>C ENST00000456430.2 + 7 1047 c.e7+2 CAND2_ENST00000295989.5_Splice_Site NM_001162499.1 NP_001155971.1 O75155 CAND2_HUMAN cullin-associated and neddylation-dissociated 2 (putative) positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding 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 GTGAGCAAGGTTGGTGGACAG 0.527000 14 54 0 0 1 0 0 SLC37A3 84255 broad.mit.edu 37 7 140051896 140051896 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:140051896G>A ENST00000326232.9 - 8 872 c.669C>T c.(667-669)atC>atT p.I223I SLC37A3_ENST00000340308.3_Silent_p.I223I|SLC37A3_ENST00000447932.2_Silent_p.I223I|SLC37A3_ENST00000429996.2_3'UTR NM_207113.1 NP_996996.1 Q8NCC5 SPX3_HUMAN solute carrier family 37, member 3 223 carbohydrate transport|transmembrane transport integral to membrane endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3) 24 Melanoma(164;0.0142) GTCCAAAGAAGATAACGATCC 0.507000 3 32 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89720741 89720741 + Nonsense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:89720741C>T ENST00000371953.3 + 8 2249 c.892C>T c.(892-894)Caa>Taa p.Q298* PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 298 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.Q298*(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.Q298fs*9(1)|p.W274_F341del(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TCTATGTGATCAAGAAATCGA 0.323000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 14 40 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77147360 77147360 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:77147360C>T ENST00000461745.1 + 2 1157 c.257C>T c.(256-258)cCc>cTc p.P86L ROBO2_ENST00000332191.8_Missense_Mutation_p.P86L|ROBO2_ENST00000487694.3_Missense_Mutation_p.P102L NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 86 Ig-like C2-type 1. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) ATGCTTCTGCCCAGCGGATCC 0.567000 17 59 0 0 1 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22194146 22194146 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:22194146G>A ENST00000344041.6 - 17 1566 c.1254C>T c.(1252-1254)atC>atT p.I418I RAPGEF5_ENST00000401957.2_Silent_p.I268I NM_012294.3 NP_036426.3 Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 268 Ras-GEF. nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 CGACTTTTAGGATCTCTTGGG 0.428000 19 53 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 155098601 155098601 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:155098601C>T ENST00000392825.3 + 5 937 c.370C>T c.(370-372)Cat>Tat p.H124Y GALNT13_ENST00000409237.1_Missense_Mutation_p.H124Y NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 124 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 CATTGTGTTTCATAATGAAGC 0.383000 5 70 0 0 1 0 0 SUCNR1 56670 broad.mit.edu 37 3 151599072 151599072 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:151599072C>T ENST00000362032.4 + 3 846 c.741C>T c.(739-741)ccC>ccT p.P247P RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA NM_033050.4 NP_149039.2 Q9BXA5 SUCR1_HUMAN succinate receptor 1 247 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) Succinic acid(DB00139) TTTTTACACCCTATCACGTCA 0.488000 41 264 0 0 1 0 0 VAT1 10493 broad.mit.edu 37 17 41170630 41170630 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:41170630C>T ENST00000355653.3 - 2 669 c.574G>A c.(574-576)Gtc>Atc p.V192I VAT1_ENST00000587173.1_Missense_Mutation_p.V124I|VAT1_ENST00000420567.3_Missense_Mutation_p.V58I NM_006373.3 NP_006364.2 Q99536 VAT1_HUMAN vesicle amine transport 1 192 cytoplasm|integral to membrane oxidoreductase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 9 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.156) TGTACCAAGACGCTGTGGCCA 0.557000 8 44 0 0 1 0 0 LYN 4067 broad.mit.edu 37 8 56879416 56879416 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:56879416G>A ENST00000520220.2 + 9 1144 c.870G>A c.(868-870)agG>agA p.R290R LYN_ENST00000420292.1_3'UTR|LYN_ENST00000519728.1_Silent_p.R311R NM_001111097.2 NP_001104567.1 P07948 LYN_HUMAN v-yes-1 Yamaguchi sarcoma viral related oncogene homolog 311 Protein kinase. erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) TGGTCACCAGGGAGGAGCCCA 0.522000 13 89 0 0 1 0 0 CDAN1 146059 broad.mit.edu 37 15 43022827 43022827 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr15:43022827C>T ENST00000356231.3 - 14 2166 c.2143G>A c.(2143-2145)Gac>Aac p.D715N NM_138477.2 NP_612486.2 Q8IWY9 CDAN1_HUMAN codanin 1 715 integral to membrane protein binding endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 24 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) GTGAAGATGTCCCGGTAATAT 0.587000 4 69 0 0 1 0 0 SEPT14 346288 broad.mit.edu 37 7 55863665 55863665 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:55863665C>T ENST00000388975.3 - 10 1356 c.1240G>A c.(1240-1242)Gaa>Aaa p.E414K NM_207366.2 NP_997249.2 Q6ZU15 SEP14_HUMAN septin 14 414 cell cycle|cell division septin complex GTP binding|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2) 23 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TGCAGTGCTTCGGAGGCAGCT 0.378000 14 81 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56496088 56496088 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:56496088G>A ENST00000370754.5 - 29 3963 c.3964C>T c.(3964-3966)Cct>Tct p.P1322S DST_ENST00000312431.6_Missense_Mutation_p.P1144S|DST_ENST00000370769.4_Missense_Mutation_p.P1144S|DST_ENST00000370788.2_Missense_Mutation_p.P1144S|DST_ENST00000361203.3_Missense_Mutation_p.P1144S|DST_ENST00000518935.1_Missense_Mutation_p.P818S|DST_ENST00000421834.2_Missense_Mutation_p.P1144S|DST_ENST00000446842.2_Missense_Mutation_p.P818S|DST_ENST00000370765.6_Missense_Mutation_p.P818S|DST_ENST00000244364.6_Missense_Mutation_p.P818S Q03001 DYST_HUMAN dystonin 1144 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CGTAGGGTAGGGACTGATGAA 0.393000 14 62 0 0 1 0 0 IGSF22 283284 broad.mit.edu 37 11 18737028 18737028 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr11:18737028C>T ENST00000513874.1 - 11 1621 c.1482G>A c.(1480-1482)caG>caA p.Q494Q RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 494 Ig-like 3. NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 GGTCTCCATCCTGCATGGCCA 0.547000 10 177 0 0 1 0 0 IGSF3 3321 broad.mit.edu 37 1 117131389 117131389 + Silent SNP C C A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:117131389C>A ENST00000369486.3 - 8 3132 c.2367G>T c.(2365-2367)ctG>ctT p.L789L IGSF3_ENST00000318837.6_Silent_p.L809L|IGSF3_ENST00000369483.1_Silent_p.L809L NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 789 Ig-like C2-type 6. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) AGTTGGGGCTCAGCAGCCACT 0.627000 9 40 6.81908e-15 6.94174e-15 1 1 0 RPS4Y2 140032 broad.mit.edu 37 Y 22942837 22942837 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chrY:22942837C>T ENST00000288666.5 + 7 711 c.711C>T c.(709-711)tcC>tcT p.S237S NM_001039567.2 NP_001034656.1 Q8TD47 RS4Y2_HUMAN ribosomal protein S4, Y-linked 2 237 translation ribosome rRNA binding|structural constituent of ribosome lung(2) 2 CTTGGATTTCCCTGCCCAGGG 0.438000 20 38 0 0 1 0 0 C1GALT1 56913 broad.mit.edu 37 7 7278223 7278223 + Nonsense_Mutation SNP C C A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:7278223C>A ENST00000436587.2 + 3 781 c.558C>A c.(556-558)taC>taA p.Y186* C1GALT1_ENST00000223122.2_Nonsense_Mutation_p.Y186*|C1GALT1_ENST00000402468.3_Nonsense_Mutation_p.Y186* NM_020156.3 NP_064541.1 Q9NS00 C1GLT_HUMAN core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 186 angiogenesis|cell differentiation|kidney development integral to membrane glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1) 7 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) TTTCAAAATACGACCCTGAAG 0.388000 13 51 0.000151284 0.000152386 1 1 0 SYNJ1 8867 broad.mit.edu 37 21 34003873 34003873 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr21:34003873G>A ENST00000382491.3 - 28 4137 c.4013C>T c.(4012-4014)tCc>tTc p.S1338F SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.S1385F|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000433931.2_Missense_Mutation_p.S1424F NM_001160306.1 NP_001153778.1 O43426 SYNJ1_HUMAN synaptojanin 1 1385 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 ATTTTCCTGGGATTGACTCCG 0.448000 6 34 0 0 1 0 0 CPD 1362 broad.mit.edu 37 17 28783309 28783309 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:28783309C>T ENST00000225719.4 + 16 3449 c.3373C>T c.(3373-3375)Ctt>Ttt p.L1125F CPD_ENST00000584051.1_3'UTR|CPD_ENST00000543464.2_Missense_Mutation_p.L878F NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 1125 Carboxypeptidase-like 3. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 TTTGGCATCTCTTTATGCAAA 0.363000 12 65 0 0 1 0 0 GIGYF2 26058 broad.mit.edu 37 2 233715038 233715038 + Nonsense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:233715038C>T ENST00000373566.3 + 29 4014 c.3817C>T c.(3817-3819)Caa>Taa p.Q1273* GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.Q1251*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.Q1272*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.Q1251*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.Q1245*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.Q1273* Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 1251 cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) AAGCAACAACCAACAATCCAA 0.453000 11 115 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30724110 30724110 + Missense_Mutation SNP C C A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr16:30724110C>A ENST00000262518.4 + 14 2489 c.2104C>A c.(2104-2106)Cag>Aag p.Q702K SRCAP_ENST00000395059.2_Missense_Mutation_p.Q702K|SRCAP_ENST00000344771.4_Missense_Mutation_p.Q702K NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 702 Helicase ATP-binding. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CTATGGAGCCCAGAAAGAGAG 0.468000 7 94 0.00448238 0.00450773 1 1 0 ASGR2 433 broad.mit.edu 37 17 7010600 7010600 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:7010600G>A ENST00000380952.2 - 6 725 c.461C>T c.(460-462)cCc>cTc p.P154L ASGR2_ENST00000254850.7_Missense_Mutation_p.P130L|ASGR2_ENST00000446679.2_Missense_Mutation_p.P135L|ASGR2_ENST00000355035.5_Missense_Mutation_p.P154L NM_001181.4|NM_001201352.1|NM_080912.3 NP_001172.1|NP_001188281.1|NP_550434.1 P07307 ASGR2_HUMAN asialoglycoprotein receptor 2 154 cell surface receptor linked signaling pathway|endocytosis focal adhesion|integral to membrane|nucleolus asialoglycoprotein receptor activity|protein binding|sugar binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4) 18 Antihemophilic Factor(DB00025) CAGGTCCACGGGGAAGTGCTT 0.652000 6 49 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157494336 157494336 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:157494336G>A ENST00000361835.3 - 10 2129 c.1972C>T c.(1972-1974)Cgt>Tgt p.R658C FCRL5_ENST00000368190.3_Missense_Mutation_p.R658C|FCRL5_ENST00000368191.3_Missense_Mutation_p.R573C|FCRL5_ENST00000356953.4_Missense_Mutation_p.R658C NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 658 integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) AGGATGGGACGAGATACTGGA 0.502000 12 63 0 0 1 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217395 150217395 + Silent SNP C C T rs144054418 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:150217395C>T ENST00000313543.4 + 2 490 c.333C>T c.(331-333)acC>acT p.T111T NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 111 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGCAGAAAACCGTTGCATTGA 0.537000 22 60 0 0 1 0 0 MTMR4 9110 broad.mit.edu 37 17 56581139 56581139 + Nonsense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:56581139G>A ENST00000323456.5 - 15 1901 c.1777C>T c.(1777-1779)Cag>Tag p.Q593* MTMR4_ENST00000579925.1_Nonsense_Mutation_p.Q536* NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 593 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCCTGGCTCTGGGCCACTGGG 0.527000 19 134 0 0 1 0 0 SBNO2 22904 broad.mit.edu 37 19 1119535 1119535 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:1119535G>A ENST00000361757.3 - 13 1590 c.1353C>T c.(1351-1353)ttC>ttT p.F451F SBNO2_ENST00000587024.1_Silent_p.F451F|SBNO2_ENST00000438103.2_Silent_p.F394F NM_014963.2 NP_055778.2 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 (Drosophila) 451 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGCGTGCAGGAACTCCTCAA 0.647000 3 18 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179587534 179587534 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:179587534C>T ENST00000589042.1 - 76 22316 c.22092G>A c.(22090-22092)cgG>cgA p.R7364R TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.R7047R|TTN_ENST00000342992.6_Silent_p.R6120R NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7047 Ig-like 55. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGGAGTTGGCCGTAATTTGG 0.428000 5 38 0 0 1 0 0 TTLL3 26140 broad.mit.edu 37 3 9876553 9876553 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:9876553G>A ENST00000547186.1 + 12 2101 c.1885G>A c.(1885-1887)Gat>Aat p.D629N ARPC4-TTLL3_ENST00000397256.1_3'UTR|TTLL3_ENST00000426895.4_Missense_Mutation_p.D772N|TTLL3_ENST00000383827.1_3'UTR|TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000397241.1_3'UTR|TTLL3_ENST00000430793.1_Missense_Mutation_p.D417N NM_001025930.3 NP_001021100.3 Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 629 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 Medulloblastoma(99;0.227) ACCGAACCTTGATTTCAAGGT 0.597000 25 90 0 0 1 0 0 TAS2R10 50839 broad.mit.edu 37 12 10978256 10978256 + Silent SNP T T G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr12:10978256T>G ENST00000240619.2 - 1 701 c.613A>C c.(613-615)Agg>Cgg p.R205R NM_023921.1 NP_076410.1 Q9NYW0 T2R10_HUMAN taste receptor, type 2, member 10 205 sensory perception of taste integral to membrane taste receptor activity breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 TGCATCTGCCTGTTGTGTCTC 0.348000 27 119 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155203396 155203396 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr3:155203396C>T ENST00000460012.1 - 22 2990 c.2633G>A c.(2632-2634)aGa>aAa p.R878K PLCH1_ENST00000447496.2_Missense_Mutation_p.R916K|PLCH1_ENST00000414191.1_Missense_Mutation_p.R878K|PLCH1_ENST00000340059.7_Missense_Mutation_p.R916K|PLCH1_ENST00000334686.6_Missense_Mutation_p.R878K|PLCH1_ENST00000494598.1_Missense_Mutation_p.R896K Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 916 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TCGCAGAATTCTATCTCCAAT 0.478000 10 51 0 0 1 0 0 SLFNL1 200172 broad.mit.edu 37 1 41483806 41483808 + In_Frame_Del DEL TCC TCC - TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr1:41483806_41483808delTCC ENST00000359345.1 - 2 3032_3034 c.456_458delGGA c.(454-459)gac>ga p.ED152del SLFNL1_ENST00000302946.8_In_Frame_Del_p.ED152del|SLFNL1_ENST00000397197.2_In_Frame_Del_p.ED152del|SLFNL1_ENST00000439569.2_In_Frame_Del_p.ED152del|SLFNL1_ENST00000372613.2_In_Frame_Del_p.ED152del|SLFNL1_ENST00000372611.1_Intron NM_144990.3 NP_659427.3 Q499Z3 SLNL1_HUMAN schlafen-like 1 152 ATP binding endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0393) CAGGCCACTGtcctcctcctcct 0.626 3 4 --- --- --- --- LOC101929567 101929567 broad.mit.edu 37 2 8715849 8715849 + RNA DEL C C - TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:8715849delC ENST00000454224.1 - 0 586 CCCACCCCCGCCCCCGGGAAC 0.582 2 4 --- --- --- --- TP53I3 9540 broad.mit.edu 37 2 24303690 24303690 + Splice_Site DEL T T - TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr2:24303690delT ENST00000238721.4 - 3 1472 c.619_splice c.e3+1 p.K206_splice TP53I3_ENST00000407482.1_Splice_Site_p.K206_splice|FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000335934.4_Splice_Site_p.K206_splice|TP53I3_ENST00000417886.1_5'UTR|TP53I3_ENST00000313482.4_Splice_Site_p.K206_splice NM_004881.4 NP_004872.2 Q53FA7 QORX_HUMAN tumor protein p53 inducible protein 3 206 induction of apoptosis by oxidative stress|NADP metabolic process NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTTGTTTACCTTTGGTGAATT 0.418 33 285 --- --- --- --- GABRA1 2554 broad.mit.edu 37 5 161324335 161324336 + Frame_Shift_Ins INS - - T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr5:161324335_161324336insT ENST00000428797.2 + 11 1633_1634 c.1278_1279insT c.(1276-1281)gctcccfs p.P427fs GABRA1_ENST00000393943.4_Frame_Shift_Ins_p.P427fs|GABRA1_ENST00000420560.1_Frame_Shift_Ins_p.P427fs|GABRA1_ENST00000023897.6_Frame_Shift_Ins_p.P427fs|GABRA1_ENST00000437025.2_Frame_Shift_Ins_p.P427fs|GABRA1_ENST00000444819.1_Frame_Shift_Ins_p.P427fs NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 427 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) CAAGAATAGCCTTCCCGCTGCT 0.426 15 182 --- --- --- --- TFEB 7942 broad.mit.edu 37 6 41658830 41658832 + In_Frame_Del DEL TGC TGC - rs150746914 byFrequency TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr6:41658830_41658832delTGC ENST00000394283.1 - 2 1346_1348 c.120_122delGCA c.(118-123)caa>ca p.QQ42del TFEB_ENST00000373033.1_In_Frame_Del_p.QQ42del|TFEB_ENST00000358871.2_In_Frame_Del_p.QQ56del|TFEB_ENST00000403298.4_In_Frame_Del_p.QQ42del|TFEB_ENST00000230323.4_In_Frame_Del_p.QQ42del|TFEB_ENST00000420312.1_In_Frame_Del_p.QQ42del P19484 TFEB_HUMAN transcription factor EB 42 Gln-rich.|Poly-Gln. embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.Q44delQ(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 11 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) ctgctgctgttgctgctgctgct 0.650 T ALPHA renal (childhood epithelioid) OREG0004069 type=REGULATORY REGION|Gene=TFEB|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 4 8 --- --- --- --- CCT6P3 643180 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 4 5 --- --- --- --- CHRAC1 54108 broad.mit.edu 37 8 141525279 141525280 + Frame_Shift_Del DEL AA AA - TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr8:141525279_141525280delAA ENST00000220913.5 + 3 531_532 c.329_330delAA c.(328-330)gfs p.E110fs CHRAC1_ENST00000519533.1_3'UTR NM_017444.5 NP_059140.1 Q9NRG0 CHRC1_HUMAN chromatin accessibility complex 1 110 chromatin remodeling chromatin accessibility complex|epsilon DNA polymerase complex DNA-directed DNA polymerase activity|sequence-specific DNA binding ovary(2) 2 all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.107) CTTAAAGAGGAAAAGAGGGAAG 0.356 22 93 --- --- --- --- ZNF438 220929 broad.mit.edu 37 10 31137605 31137608 + Frame_Shift_Del DEL CAAA CAAA - TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:31137605_31137608delCAAA ENST00000538351.1 - 7 2333_2336 c.1579_1582delTTTG c.(1579-1584)gcfs p.FG527fs ZNF438_ENST00000375311.1_Frame_Shift_Del_p.FG140fs|ZNF438_ENST00000361310.3_Frame_Shift_Del_p.FG576fs|ZNF438_ENST00000331737.6_Frame_Shift_Del_p.FG566fs|ZNF438_ENST00000444692.2_Frame_Shift_Del_p.FG566fs|ZNF438_ENST00000442986.1_Frame_Shift_Del_p.FG576fs|ZNF438_ENST00000413025.1_Frame_Shift_Del_p.FG576fs|ZNF438_ENST00000452305.1_Frame_Shift_Del_p.FG566fs|ZNF438_ENST00000436087.2_Frame_Shift_Del_p.FG576fs NM_001143769.1 NP_001137241.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 576 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) CGGATGTGGCCAAACACTTTTGCA 0.485 15 104 --- --- --- --- ZNF503 84858 broad.mit.edu 37 10 77044147 77044147 + RNA DEL T T - rs68051028 by1000genomes TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr10:77044147delT ENST00000418818.2 - 0 142 GGGGCGTTGGTGGGGAGGGTT 0.602 2 4 --- --- --- --- CTD-2540L5.5 0 broad.mit.edu 37 14 71067484 71067504 + RNA DEL GGCAGGAGAGAGGCAGGGGGT GGCAGGAGAGAGGCAGGGGGT - TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr14:71067484_71067504delGGCAGGAGAGAGGCAGGGGGT ENST00000553982.1 - 0 294 gggcggggcgggcaggagagaggcagggggtggaggtgcgg 0.710 3 4 --- --- --- --- RP11-519G16.3 0 broad.mit.edu 37 15 45755307 45755309 + RNA DEL CAC CAC - TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr15:45755307_45755309delCAC ENST00000560077.1 + 0 41 RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA acatcaccatcaccaccaccacc 0.596 2 4 --- --- --- --- FNDC8 54752 broad.mit.edu 37 17 33454271 33454271 + Frame_Shift_Del DEL C C - TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:33454271delC ENST00000158009.5 + 2 535 c.420delC c.(418-420)tgfs p.C140fs NM_017559.2 NP_060029.1 Q8TC99 FNDC8_HUMAN fibronectin type III domain containing 8 140 breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1) 11 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.022) TCGGCCCCTGCCCATGCCCAT 0.577 19 234 --- --- --- --- VEZF1 7716 broad.mit.edu 37 17 56060475 56060476 + Frame_Shift_Ins INS - - C rs140158628 TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr17:56060475_56060476insC ENST00000584396.1 - 2 373_374 c.285_286insG c.(283-288)cgcaaafs p.K96fs VEZF1_ENST00000581208.1_Frame_Shift_Ins_p.K105fs Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 105 cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 GTTTTCTTTGGCCGGGACACCA 0.535 22 116 --- --- --- --- PTPRH 5794 broad.mit.edu 37 19 55697279 55697284 + In_Frame_Del DEL CCTACC CCTACC - rs61734259 byFrequency TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr19:55697279_55697284delCCTACC ENST00000376350.3 - 17 2869_2874 c.2847_2852delGGTAGG c.(2845-2853)ctt>ct p.LVG949del PTPRH_ENST00000263434.5_In_Frame_Del_p.LVG771del NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 949 Tyrosine-protein phosphatase. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) CACTTCCTCACCTACCAGGGTTACCC 0.621 7 226 --- --- --- --- ADAM33 80332 broad.mit.edu 37 20 3655458 3655458 + Frame_Shift_Del DEL G G - TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr20:3655458delG ENST00000356518.2 - 5 613 c.372delC c.(370-372)ccfs p.P124fs ADAM33_ENST00000379861.4_Frame_Shift_Del_p.P124fs|ADAM33_ENST00000350009.2_Frame_Shift_Del_p.P124fs NM_025220.2 NP_079496.1 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 124 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 CCCAGGAGTCGGGGAAGCCCC 0.632 9 74 --- --- --- --- AP003900.6 0 broad.mit.edu 37 21 11177872 11177873 + RNA INS - - A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca802053-8c00-476c-a7b4-ca9e047b5760 cbaa9547-d331-466f-bb13-1a14393c36bc g.chr21:11177872_11177873insA ENST00000603265.1 + 0 231 gaggcaggcggatcacctgagg 0.446 2 4 --- --- --- ---