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 C2orf71 388939 broad.mit.edu 37 2 29294843 29294843 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:29294843C>T ENST00000331664.5 - 1 2284 c.2285G>A c.(2284-2286)tGc>tAc p.C762Y NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 762 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 GGGCATGATGCAATTCCTGAG 0.527000 36 71 0 0 0.788014 0 0 PSMD1 5707 broad.mit.edu 37 2 231948335 231948335 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:231948335A>G ENST00000308696.6 + 14 1742 c.1580A>G c.(1579-1581)cAg>cGg p.Q527R PSMD1_ENST00000409643.1_Missense_Mutation_p.Q527R|PSMD1_ENST00000373635.4_Missense_Mutation_p.Q527R NM_002807.3 NP_002798.2 Q99460 PSMD1_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 527 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4) 31 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) AAAAATGCTCAGGCTATTGAG 0.433000 60 140 0 0 0.870114 0 0 PI4KB 5298 broad.mit.edu 37 1 151274728 151274728 + Nonsense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:151274728G>A ENST00000368875.2 - 8 2183 c.1603C>T c.(1603-1605)Cga>Tga p.R535* PI4KB_ENST00000368872.1_Nonsense_Mutation_p.R508*|PI4KB_ENST00000368873.1_Nonsense_Mutation_p.R523*|PI4KB_ENST00000271657.5_Nonsense_Mutation_p.R535*|PI4KB_ENST00000368874.4_Nonsense_Mutation_p.R508*|PI4KB_ENST00000529142.1_Nonsense_Mutation_p.R191* NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 523 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 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) TCTGGGTCTCGTTTGAAGGCT 0.547000 37 257 0 0 0.819951 0 0 IPMK 253430 broad.mit.edu 37 10 59956101 59956101 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:59956101A>G ENST00000373935.3 - 6 1309 c.987T>C c.(985-987)caT>caC p.H329H NM_152230.4 NP_689416.1 Q8NFU5 IPMK_HUMAN inositol polyphosphate multikinase 329 nucleus ATP binding|inositol trisphosphate 6-kinase activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1) 22 TCTGACTGTGATGCTTTTTTG 0.388000 45 446 0 0 0.870114 0 0 PGS1 9489 broad.mit.edu 37 17 76388741 76388741 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:76388741A>G ENST00000262764.6 + 2 354 c.328A>G c.(328-330)Atg>Gtg p.M110V PGS1_ENST00000329897.7_Start_Codon_SNP_p.M1V NM_024419.3 NP_077733.3 Q32NB8 PGPS1_HUMAN phosphatidylglycerophosphate synthase 1 110 phospholipid biosynthetic process endoplasmic reticulum|mitochondrion ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031) TTTCGAGCTCATGAAGGTAAG 0.468000 30 112 0 0 0.750413 0 0 MAST2 23139 broad.mit.edu 37 1 46500672 46500672 + Missense_Mutation SNP G G T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:46500672G>T ENST00000361297.2 + 29 4614 c.4331G>T c.(4330-4332)aGg>aTg p.R1444M MAST2_ENST00000372008.1_Intron|MAST2_ENST00000372009.2_Missense_Mutation_p.R1254M NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 1444 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) CTGCCGCCCAGGGAAGTGAGC 0.632000 28 22 6.02846e-25 6.62814e-25 0.779181 1 0 ELL2 22936 broad.mit.edu 37 5 95226808 95226808 + Splice_Site SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:95226808T>C ENST00000237853.4 - 10 2109 c.1761_splice c.e10+1 p.Q587_splice ELL2_ENST00000431061.2_Splice_Site_p.Q337_splice NM_012081.5 NP_036213.2 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 587 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 24 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) TCCATTTACCTGATACTCTTT 0.433000 129 290 0 0 0.870114 0 0 KIF5B 3799 broad.mit.edu 37 10 32307245 32307245 + Splice_Site SNP T T A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:32307245T>A ENST00000302418.4 - 22 2895 c.2439_splice c.e22+1 p.K813_splice KIF5B_ENST00000493889.1_Intron NM_004521.2 NP_004512.1 P33176 KINH_HUMAN kinesin family member 5B 813 stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(8)|KIF5B/RET(79) NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1) 35 Prostate(175;0.0137) TTACATTACCTTTTTAACTCT 0.373000 T """RET, ALK""" NSCLC 88 158 0 0 0.870114 0 0 GEMIN5 25929 broad.mit.edu 37 5 154268882 154268882 + Splice_Site SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:154268882T>C ENST00000285873.7 - 27 4433 c.4359_splice c.e27+1 p.K1453_splice NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 1453 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AACTCTTACCTTAATGCTCTC 0.378000 53 109 0 0 0.870114 0 0 CCDC91 55297 broad.mit.edu 37 12 28460651 28460651 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:28460651T>C ENST00000545336.1 + 9 964 c.545T>C c.(544-546)aTt>aCt p.I182T CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381259.1_Missense_Mutation_p.I182T|CCDC91_ENST00000306172.5_Missense_Mutation_p.I152T|CCDC91_ENST00000381256.1_Missense_Mutation_p.I182T|CCDC91_ENST00000539107.1_Missense_Mutation_p.I182T Q7Z6B0 CCD91_HUMAN coiled-coil domain containing 91 182 protein transport Golgi apparatus|membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1) 22 Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184) CAAGAGGCCATTTCTTTTCAA 0.303000 58 103 0 0 0.870114 0 0 ABLIM2 84448 broad.mit.edu 37 4 8021390 8021390 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr4:8021390C>T ENST00000318888.4 - 13 1352 c.481G>A c.(481-483)Gta>Ata p.V161I ABLIM2_ENST00000428004.2_Intron|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000361581.5_Missense_Mutation_p.V427I|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000545242.1_Missense_Mutation_p.V427I|ABLIM2_ENST00000296372.8_Missense_Mutation_p.V427I|ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000341937.5_Missense_Mutation_p.V427I|ABLIM2_ENST00000514025.1_Missense_Mutation_p.V161I|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000447017.2_Missense_Mutation_p.V460I Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 427 LIM zinc-binding 3. axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 TTATCTTTTACGCCAGTGTCT 0.468000 29 18 0 0 0.750413 0 0 DHRS4 10901 broad.mit.edu 37 14 24424297 24424297 + Missense_Mutation SNP T T G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr14:24424297T>G ENST00000313250.5 + 2 385 c.182T>G c.(181-183)gTc>gGc p.V61G DHRS4_ENST00000558581.1_Missense_Mutation_p.V61G|DHRS4_ENST00000558263.1_Missense_Mutation_p.V61G|DHRS4_ENST00000397073.2_Missense_Mutation_p.V43G|DHRS4_ENST00000543741.2_Missense_Mutation_p.V61G|DHRS4_ENST00000421831.1_Missense_Mutation_p.V43G|DHRS4_ENST00000397074.3_Missense_Mutation_p.V61G|DHRS4_ENST00000397075.3_Missense_Mutation_p.V61G|DHRS4_ENST00000382761.3_Missense_Mutation_p.V43G|DHRS4_ENST00000308178.8_Missense_Mutation_p.V43G|DHRS4_ENST00000559632.1_Missense_Mutation_p.V61G NM_021004.2 NP_066284.2 Q9BTZ2 DHRS4_HUMAN dehydrogenase/reductase (SDR family) member 4 61 mitochondrion|nuclear membrane|peroxisome binding|carbonyl reductase (NADPH) activity central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00962) Vitamin A(DB00162) CATGTGGTCGTCAGCAGCCGG 0.662000 47 26 0 0 0.870114 0 0 KIF3C 3797 broad.mit.edu 37 2 26203973 26203973 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:26203973C>T ENST00000264712.3 - 1 1393 c.814G>A c.(814-816)Ggt>Agt p.G272S KIF3C_ENST00000405914.1_Missense_Mutation_p.G272S NM_002254.6 NP_002245.4 O14782 KIF3C_HUMAN kinesin family member 3C 272 Kinesin-motor.|Poly-Gly. blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ccgccaccaccgccaccCGAG 0.627000 9 14 0 0 0.608945 0 0 VWF 7450 broad.mit.edu 37 12 6076653 6076653 + Splice_Site SNP A A G rs112100565 TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:6076653A>G ENST00000261405.5 - 47 8140 c.7887_splice c.e47+1 p.L2629_splice NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2629 VWFC 3. 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) CTCTCTTACCAGGGGGCAGGG 0.572000 49 111 0 0 0.870114 0 0 ERBB2 2064 broad.mit.edu 37 17 37882078 37882078 + Silent SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:37882078C>A ENST00000406381.2 + 25 3264 c.2754C>A c.(2752-2754)acC>acA p.T918T ERBB2_ENST00000541774.1_Silent_p.T933T|ERBB2_ENST00000584601.1_Silent_p.T918T|ERBB2_ENST00000584450.1_Silent_p.T948T|ERBB2_ENST00000540147.1_Silent_p.T918T|ERBB2_ENST00000269571.5_Silent_p.T948T|ERBB2_ENST00000445658.2_Silent_p.T672T NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 948 Protein kinase. cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CCATCTGCACCATTGATGTCT 0.612000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 18 41 8.28177e-16 8.88466e-16 0.557998 1 0 NPEPPS 9520 broad.mit.edu 37 17 45669320 45669320 + Splice_Site SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:45669320A>G ENST00000322157.4 + 11 1497 c.e11-1 NPEPPS_ENST00000530173.1_Splice_Site|NPEPPS_ENST00000544660.1_Splice_Site|NPEPPS_ENST00000525037.1_Splice_Site NM_006310.3 NP_006301.3 P55786 PSA_HUMAN aminopeptidase puromycin sensitive proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 ACTGTCTGCCAGGTCAGTGTG 0.413000 7 105 0 0 0.307466 0 0 NCOA3 8202 broad.mit.edu 37 20 46281225 46281225 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr20:46281225G>A ENST00000372004.3 + 21 4226 c.4010G>A c.(4009-4011)gGt>gAt p.G1337D NCOA3_ENST00000371997.3_Missense_Mutation_p.G1332D|NCOA3_ENST00000371998.3_Missense_Mutation_p.G1341D|NCOA3_ENST00000341724.6_Missense_Mutation_p.G1267D NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1341 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 TCAAGAATGGGTCCCTCCCAG 0.483000 4 135 0 0 0.150653 0 0 DPCD 25911 broad.mit.edu 37 10 103360984 103360984 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:103360984A>G ENST00000370151.4 + 4 344 c.295A>G c.(295-297)Aag>Gag p.K99E DPCD_ENST00000370148.2_Missense_Mutation_p.K99E|DPCD_ENST00000370147.1_Missense_Mutation_p.K99E NM_015448.1 NP_056263.1 Q9BVM2 DPCD_HUMAN deleted in primary ciliary dyskinesia homolog (mouse) 99 protein binding endometrium(1)|large_intestine(1)|lung(2)|skin(1) 5 CAAGGACACCAAGATGAGTTT 0.537000 38 91 0 0 0.870114 0 0 NES 10763 broad.mit.edu 37 1 156642564 156642564 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:156642564A>G ENST00000368223.3 - 4 1548 c.1416T>C c.(1414-1416)ccT>ccC p.P472P NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 472 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) TGGAGTGGTCAGGGCTGAGGG 0.617000 72 134 0 0 0.870114 0 0 ATF7IP 55729 broad.mit.edu 37 12 14628904 14628904 + Splice_Site SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:14628904T>C ENST00000544627.1 + 11 3285 c.e11+2 ATF7IP_ENST00000540793.1_Splice_Site|ATF7IP_ENST00000543189.1_Splice_Site|ATF7IP_ENST00000536444.1_Splice_Site|ATF7IP_ENST00000261168.4_Splice_Site Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 CTTCACAAGGTACTTCAATAG 0.363000 24 54 0 0 0.717897 0 0 ZNF727 442319 broad.mit.edu 37 7 63529332 63529332 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:63529332T>C ENST00000550760.3 + 2 246 c.67T>C c.(67-69)Tct>Cct p.S23P RP11-3N2.13_ENST00000445978.1_RNA NM_001159522.1 NP_001152994.1 A8MUV8 ZN727_HUMAN zinc finger protein 727 23 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1) 8 ATGCCTGGACTCTGCTCAGCA 0.418000 7 12 0 0 0.307466 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64606329 64606329 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:64606329C>T ENST00000342711.5 - 8 921 c.922G>A c.(922-924)Gcc>Acc p.A308T NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 308 Protein kinase. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 AGGTCTTGGGCGCTGGCTGGC 0.662000 15 24 0 0 0.557998 0 0 SPTBN2 6712 broad.mit.edu 37 11 66453855 66453855 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:66453855G>A ENST00000529997.1 - 35 6952 c.6953C>T c.(6952-6954)tCg>tTg p.S2318L SPTBN2_ENST00000309996.2_Intron|SPTBN2_ENST00000533211.1_Intron O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 2318 PH. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 AGAGGAACACGAAGGACAGCT 0.517000 59 127 0 0 0.870114 0 0 NCOA4 8031 broad.mit.edu 37 10 51584973 51584973 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:51584973G>A ENST00000452682.1 + 9 1372 c.1120G>A c.(1120-1122)Gtg>Atg p.V374M NCOA4_ENST00000443446.1_Missense_Mutation_p.V358M|NCOA4_ENST00000414907.2_Missense_Mutation_p.V192M|NCOA4_ENST00000344348.6_Missense_Mutation_p.V358M|NCOA4_ENST00000374087.4_Missense_Mutation_p.V358M|NCOA4_ENST00000374082.1_Missense_Mutation_p.V358M|NCOA4_ENST00000438493.1_Missense_Mutation_p.V374M|NCOA4_ENST00000430396.2_Missense_Mutation_p.V258M NM_001145260.1 NP_001138732.1 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 358 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1) 5 GCCCAAAGGTGTGGAGATTGA 0.473000 T RET papillary thyroid 19 51 0 0 0.539581 0 0 MAP4K4 9448 broad.mit.edu 37 2 102501664 102501664 + Missense_Mutation SNP T T A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:102501664T>A ENST00000413150.2 + 25 2901 c.2846T>A c.(2845-2847)aTc>aAc p.I949N MAP4K4_ENST00000456652.1_Missense_Mutation_p.I833N|MAP4K4_ENST00000425019.1_Missense_Mutation_p.I1067N|MAP4K4_ENST00000350878.4_Missense_Mutation_p.I1074N|MAP4K4_ENST00000324219.4_Missense_Mutation_p.I1115N|MAP4K4_ENST00000350198.4_Missense_Mutation_p.I953N|MAP4K4_ENST00000347699.4_Missense_Mutation_p.I1034N|MAP4K4_ENST00000302217.5_Missense_Mutation_p.I837N NM_001242560.1|NM_004834.4 NP_001229489.1|NP_004825.3 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 1034 CNH.|Mediates interaction with RAP2A. intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TATGAAAGAATCAAATTTCTG 0.368000 4 21 0 0 0.184627 0 0 MST1 4485 broad.mit.edu 37 3 49721844 49721844 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:49721844A>G ENST00000449682.2 - 17 2280 c.1919T>C c.(1918-1920)gTc>gCc p.V640A NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 626 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GTTGGAGATGACATTCAGCAA 0.582000 31 54 0 0 0.788014 0 0 ZSCAN29 146050 broad.mit.edu 37 15 43656464 43656464 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr15:43656464C>T ENST00000396976.2 - 4 1473 c.1339G>A c.(1339-1341)Gag>Aag p.E447K ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.E446K|ZSCAN29_ENST00000396972.1_Intron NM_152455.3 NP_689668.3 Q8IWY8 ZSC29_HUMAN zinc finger and SCAN domain containing 29 447 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) CATAACCTCTCAGCCACTGCT 0.488000 74 126 0 0 0.870114 0 0 SETD2 29072 broad.mit.edu 37 3 47155460 47155460 + Missense_Mutation SNP T T G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:47155460T>G ENST00000409792.3 - 5 4663 c.4621A>C c.(4621-4623)Aat>Cat p.N1541H NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1541 AWS. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) AACCGTCTATTGGAACAATAA 0.398000 """N, F, S, Mis""" clear cell renal carcinoma 71 67 0 0 0.870114 0 0 ZNF638 27332 broad.mit.edu 37 2 71654527 71654527 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:71654527T>C ENST00000409544.1 + 24 6158 c.5528T>C c.(5527-5529)aTt>aCt p.I1843T ZNF638_ENST00000409407.1_Missense_Mutation_p.I783T|ZNF638_ENST00000264447.4_Missense_Mutation_p.I1843T|ZNF638_ENST00000355812.3_3'UTR NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 1843 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 AAAACCATGATTGAAAGACAC 0.343000 35 69 0 0 0.769981 0 0 ANXA5 308 broad.mit.edu 37 4 122604561 122604561 + Silent SNP G G T rs144170580 TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr4:122604561G>T ENST00000296511.5 - 5 546 c.261C>A c.(259-261)ccC>ccA p.P87P ANXA5_ENST00000509016.1_5'UTR|ANXA5_ENST00000515017.1_Intron|ANXA5_ENST00000501272.2_Silent_p.P27P NM_001154.3 NP_001145.1 P08758 ANXA5_HUMAN annexin A5 87 anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1) 15 AAAGCCGAGAGGGTTTCATCA 0.338000 41 60 4.10826e-27 4.52286e-27 0.870114 1 0 CLCN3 1182 broad.mit.edu 37 4 170625248 170625248 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr4:170625248T>C ENST00000513761.1 + 10 2222 c.1663T>C c.(1663-1665)Tgg>Cgg p.W555R CLCN3_ENST00000347613.4_Missense_Mutation_p.W555R|CLCN3_ENST00000504131.2_Missense_Mutation_p.W538R|CLCN3_ENST00000360642.3_Missense_Mutation_p.W528R NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 555 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) TCACCACGACTGGTTTATCTT 0.527000 47 36 0 0 0.870114 0 0 CSRP2 1466 broad.mit.edu 37 12 77257107 77257107 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:77257107A>G ENST00000311083.5 - 3 253 c.130T>C c.(130-132)Tta>Cta p.L44L CSRP2_ENST00000552330.1_Silent_p.L44L|CSRP2_ENST00000546966.1_Silent_p.L44L|CSRP2_ENST00000547435.1_Silent_p.L44L NM_001321.1 NP_001312.1 Q16527 CSRP2_HUMAN cysteine and glycine-rich protein 2 44 LIM zinc-binding 1. multicellular organismal development nucleus zinc ion binding kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1) 8 GTGCTATCTAAATTTTTCCTG 0.453000 41 71 0 0 0.819951 0 0 FN3KRP 79672 broad.mit.edu 37 17 80684911 80684911 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:80684911G>A ENST00000269373.6 + 6 867 c.794G>A c.(793-795)gGc>gAc p.G265D FN3KRP_ENST00000535965.1_Missense_Mutation_p.G215D NM_024619.3 NP_078895.2 Q9HA64 KT3K_HUMAN fructosamine 3 kinase related protein 265 G -> C (in Ref. 4; AAH01458). kinase activity breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 7 Breast(20;0.000523)|all_neural(118;0.0952) BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061) GCCTACCACGGCAAAATCCCC 0.502000 5 167 0 0 0.184627 0 0 USP50 373509 broad.mit.edu 37 15 50833262 50833262 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr15:50833262T>C ENST00000532404.1 - 4 817 c.644A>G c.(643-645)tAt>tGt p.Y215C USP50_ENST00000530218.1_Intron NM_203494.4 NP_987090.2 E9PP86 E9PP86_HUMAN ubiquitin specific peptidase 50 215 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5) 13 all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288) GGAGCATTCATATTTGGATGG 0.443000 26 44 0 0 0.681144 0 0 GLRA1 2741 broad.mit.edu 37 5 151239530 151239530 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:151239530C>A ENST00000274576.4 - 4 584 c.292G>T c.(292-294)Gac>Tac p.D98Y GLRA1_ENST00000455880.2_Missense_Mutation_p.D98Y|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Missense_Mutation_p.D15Y NM_000171.3|NM_001146040.1 NP_000162.2|NP_001139512.1 P23415 GLRA1_HUMAN glycine receptor, alpha 1 98 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AGGCGGGGGTCGTTCCATTGC 0.517000 28 62 1.06801e-11 1.13131e-11 0.740014 1 0 DNAH9 1770 broad.mit.edu 37 17 11550505 11550505 + Missense_Mutation SNP T T G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:11550505T>G ENST00000262442.3 + 12 2155 c.2087T>G c.(2086-2088)tTt>tGt p.F696C DNAH9_ENST00000454412.2_Missense_Mutation_p.F696C NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 696 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) ACTATCAACTTTAACCCACAG 0.418000 128 199 0 0 0.870114 0 0 IGFBP7 3490 broad.mit.edu 37 4 57898642 57898642 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr4:57898642G>A ENST00000295666.4 - 4 812 c.779C>T c.(778-780)tCa>tTa p.S260L IGFBP7_ENST00000537922.1_Missense_Mutation_p.S260L|IGFBP7_ENST00000512512.1_5'UTR NM_001553.2 NP_001544.1 Q16270 IBP7_HUMAN insulin-like growth factor binding protein 7 260 Ig-like C2-type. cell adhesion|negative regulation of cell proliferation|regulation of cell growth extracellular space insulin-like growth factor binding central_nervous_system(1)|endometrium(1)|lung(3) 5 Glioma(25;0.08)|all_neural(26;0.181) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AATTTTTGCTGATGCTGAAGC 0.373000 58 46 0 0 0.870114 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43973054 43973054 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:43973054C>T ENST00000282406.4 + 24 3715 c.3605C>T c.(3604-3606)cCt>cTt p.P1202L NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 1202 FERM. cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GAACAGCAGCCTGGAAAATGT 0.368000 31 52 0 0 0.779181 0 0 ST18 9705 broad.mit.edu 37 8 53030917 53030917 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:53030917A>G ENST00000276480.7 - 24 3523 c.2840T>C c.(2839-2841)aTg>aCg p.M947T NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 947 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) AAGTTTCATCATATCTGCTTC 0.303000 47 108 0 0 0.870114 0 0 NFS1 9054 broad.mit.edu 37 20 34262295 34262295 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr20:34262295C>T ENST00000374092.4 - 10 1183 c.1113G>A c.(1111-1113)aaG>aaA p.K371K NFS1_ENST00000374085.1_Silent_p.K311K|NFS1_ENST00000397425.1_Silent_p.K311K|NFS1_ENST00000540053.1_Silent_p.K169K|NFS1_ENST00000541387.1_Silent_p.K320K NM_021100.4 NP_066923.3 Q9Y697 NFS1_HUMAN NFS1 cysteine desulfurase 371 cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process cytosol|mitochondrial matrix|nucleus cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 18 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.0886) L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) AGGCAACGTCCTTCAGTGCCA 0.517000 64 127 0 0 0.870114 0 0 DDA1 79016 broad.mit.edu 37 19 17430418 17430418 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:17430418C>T ENST00000359866.4 + 5 386 c.262C>T c.(262-264)Cgc>Tgc p.R88C NM_024050.5 NP_076955.1 Q9BW61 DDA1_HUMAN DET1 and DDB1 associated 1 88 kidney(1)|large_intestine(1)|lung(1)|ovary(1) 4 CGCACCTCCCCGCAAGGTGGC 0.627000 4 5 0 0 0.184627 0 0 SSPO 23145 broad.mit.edu 37 7 149482799 149482799 + RNA SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:149482799T>C ENST00000378016.2 + 0 3215 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) GCCGTGCGTCTGGAGGGCACT 0.617000 3 7 0 0 0.150653 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250117 140250117 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:140250117T>C ENST00000398640.2 + 1 1429 c.1429T>C c.(1429-1431)Tcg>Ccg p.S477P PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTCACAGTGTCGGCGCGGGA 0.662000 38 91 0 0 0.870114 0 0 TACC2 10579 broad.mit.edu 37 10 123844471 123844471 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:123844471C>T ENST00000369005.1 + 4 2796 c.2456C>T c.(2455-2457)tCc>tTc p.S819F TACC2_ENST00000334433.3_Missense_Mutation_p.S819F|TACC2_ENST00000515273.1_Missense_Mutation_p.S819F|TACC2_ENST00000453444.2_Missense_Mutation_p.S819F|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.S819F|TACC2_ENST00000358010.1_Intron NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 819 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GGAGCTGCATCCGAGTGGCCC 0.582000 31 81 0 0 0.769981 0 0 USP19 10869 broad.mit.edu 37 3 49153190 49153190 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:49153190A>G ENST00000453664.1 - 11 1941 c.1623T>C c.(1621-1623)caT>caC p.H541H USP19_ENST00000434032.2_Silent_p.H551H|USP19_ENST00000417901.1_Silent_p.H553H|USP19_ENST00000398888.2_Silent_p.H450H|USP19_ENST00000398892.3_Silent_p.H490H|USP19_ENST00000398896.1_Silent_p.H258H|USP19_ENST00000398898.2_Silent_p.H490H NM_001199161.1|NM_001199162.1 NP_001186090.1|NP_001186091.1 O94966 UBP19_HUMAN ubiquitin specific peptidase 19 450 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TTGGGGTTACATGCTCCATGG 0.582000 36 33 0 0 0.812448 0 0 PEX11B 8799 broad.mit.edu 37 1 145522547 145522547 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:145522547C>T ENST00000369306.3 + 4 557 c.408C>T c.(406-408)agC>agT p.S136S PEX11B_ENST00000537888.1_Silent_p.S122S NM_003846.2 NP_003837.1 O96011 PX11B_HUMAN peroxisomal biogenesis factor 11 beta 136 peroxisome fission|signal transduction integral to peroxisomal membrane protein binding breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TGAATTTGAGCCGTGATGCTT 0.448000 98 76 0 0 0.870114 0 0 PAN3 255967 broad.mit.edu 37 13 28794507 28794507 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr13:28794507T>C ENST00000399613.1 + 5 455 c.392T>C c.(391-393)tTa>tCa p.L131S PAN3_ENST00000380958.3_Missense_Mutation_p.L331S Q58A45 PAN3_HUMAN PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 331 Interaction with polyadenylate-binding protein. 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) ACTGCTGGATTAGCGCCAGGT 0.433000 139 258 0 0 0.870114 0 0 TECTA 7007 broad.mit.edu 37 11 120976644 120976644 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:120976644T>C ENST00000392793.1 + 3 440 c.169T>C c.(169-171)Ttc>Ctc p.F57L TECTA_ENST00000264037.2_Missense_Mutation_p.F57L O75443 TECTA_HUMAN tectorin alpha 57 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CCCAGTTTTCTTCTTTGGCGT 0.448000 6 317 0 0 0.248553 0 0 TRAPPC1 58485 broad.mit.edu 37 17 7834023 7834023 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:7834023G>A ENST00000303731.4 - 4 454 c.339C>T c.(337-339)ccC>ccT p.P113P TRAPPC1_ENST00000540486.1_Silent_p.P113P NM_021210.4 NP_067033.1 Q9Y5R8 TPPC1_HUMAN trafficking protein particle complex 1 113 ER to Golgi vesicle-mediated transport endoplasmic reticulum breast(1)|lung(2) 3 Prostate(122;0.173) GCGGGCACAGGGGATTCTTCA 0.537000 37 76 0 0 0.796494 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94539704 94539704 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:94539704T>C ENST00000289495.5 + 1 495 c.279T>C c.(277-279)caT>caC p.H93H PPP1R9A_ENST00000340694.4_Silent_p.H93H|PPP1R9A_ENST00000424654.1_Silent_p.H93H|PPP1R9A_ENST00000433881.1_Silent_p.H93H|PPP1R9A_ENST00000456331.2_Silent_p.H93H|PPP1R9A_ENST00000433360.1_Silent_p.H93H NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 93 Actin-binding. 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) AAGGTGGACATTCATCTCCTC 0.408000 HNSCC(28;0.073) 43 66 0 0 0.840704 0 0 CLK4 57396 broad.mit.edu 37 5 178044364 178044364 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:178044364T>C ENST00000316308.4 - 4 624 c.456A>G c.(454-456)ggA>ggG p.G152G CLK4_ENST00000522749.1_Intron NM_020666.2 NP_065717.1 Q9HAZ1 CLK4_HUMAN CDC-like kinase 4 152 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2) 21 all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918) all_cancers(40;0.0272)|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;0.235) TTAGAACGTCTCCACTTTGAC 0.418000 34 88 0 0 0.796494 0 0 TTC39C 125488 broad.mit.edu 37 18 21710336 21710336 + Silent SNP G G A rs149403354 byFrequency TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr18:21710336G>A ENST00000540918.2 + 7 907 c.657G>A c.(655-657)ccG>ccA p.P219P TTC39C_ENST00000304621.6_Silent_p.P465P|TTC39C_ENST00000317571.3_Silent_p.P526P Q8N584 TT39C_HUMAN tetratricopeptide repeat domain 39C 526 binding breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 19 ATGTTCAGCCGTATGCCTGTT 0.308000 96 180 0 0 0.870114 0 0 USP43 124739 broad.mit.edu 37 17 9583621 9583621 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:9583621C>T ENST00000570827.2 + 6 1184 c.110C>T c.(109-111)gCa>gTa p.A37V USP43_ENST00000575346.1_3'UTR|USP43_ENST00000570475.1_Missense_Mutation_p.A348V|USP43_ENST00000285199.6_Missense_Mutation_p.A348V Q70EL4 UBP43_HUMAN ubiquitin specific peptidase 43 348 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 AATACCATCGCAGAGGGAGAT 0.453000 53 136 0 0 0.870114 0 0 CRHR2 1395 broad.mit.edu 37 7 30702345 30702345 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:30702345C>T ENST00000471646.1 - 6 1079 c.662G>A c.(661-663)cGc>cAc p.R221H CRHR2_ENST00000348438.4_Missense_Mutation_p.R248H|CRHR2_ENST00000341843.4_Missense_Mutation_p.R207H|CRHR2_ENST00000506074.2_Missense_Mutation_p.R221H NM_001202482.1|NM_001202483.1|NM_001883.4 NP_001189411.1|NP_001189412.1|NP_001874.2 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 221 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CTTGCGCAGGCGCTCAGTGGA 0.567000 20 48 0 0 0.592651 0 0 TAGLN3 29114 broad.mit.edu 37 3 111719762 111719762 + Silent SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:111719762C>A ENST00000393917.2 + 3 876 c.324C>A c.(322-324)acC>acA p.T108T TAGLN3_ENST00000486460.1_Silent_p.T24T|TAGLN3_ENST00000478951.1_Silent_p.T108T|TAGLN3_ENST00000455401.2_Silent_p.T108T|TAGLN3_ENST00000273368.4_Silent_p.T108T NM_013259.2 NP_037391.2 Q9UI15 TAGL3_HUMAN transgelin 3 108 CH. central nervous system development|muscle organ development endometrium(2)|lung(5)|urinary_tract(1) 8 TCAGAACCACCGACATCTTTC 0.478000 109 208 3.26371e-31 3.62156e-31 0.870114 1 0 PASD1 139135 broad.mit.edu 37 X 150780186 150780186 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chrX:150780186T>C ENST00000370357.4 + 4 413 c.168T>C c.(166-168)tgT>tgC p.C56C NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 56 PAS. nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) TGATCATTTGTGTGGCTGAAA 0.333000 33 195 0 0 0.779181 0 0 LENG8 114823 broad.mit.edu 37 19 54967841 54967841 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:54967841G>A ENST00000326764.5 + 11 1951 c.1472G>A c.(1471-1473)aGt>aAt p.S491N LENG8_ENST00000376514.2_Intron NM_052925.2 NP_443157.1 Q96PV6 LENG8_HUMAN leukocyte receptor cluster (LRC) member 8 454 protein binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) ACCAAGCGCAGTCGAAAGAAG 0.672000 6 11 0 0 0.217242 0 0 NOX1 27035 broad.mit.edu 37 X 100103736 100103736 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chrX:100103736T>C ENST00000372966.3 - 12 1656 c.1451A>G c.(1450-1452)cAt>cGt p.H484R NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.H447R|NOX1_ENST00000217885.5_Missense_Mutation_p.H435R NM_007052.4|NM_013955.2 NP_008983.2|NP_039249.1 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 484 Interaction with NOXO1. angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity cervix(1)|lung(3)|ovary(1)|skin(2) 7 TAATGCTGCATGACCAACCTG 0.468000 4 137 0 0 0.184627 0 0 OR51Q1 390061 broad.mit.edu 37 11 5444095 5444095 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:5444095T>C ENST00000300778.4 + 1 755 c.665T>C c.(664-666)cTt>cCt p.L222P HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA NM_001004757.2 NP_001004757.1 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene) 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCCTATACACTTATTCTGAAA 0.488000 82 205 0 0 0.870114 0 0 PTPRT 11122 broad.mit.edu 37 20 41306678 41306678 + Nonsense_Mutation SNP A A T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr20:41306678A>T ENST00000373198.3 - 7 1216 c.981T>A c.(979-981)taT>taA p.Y327* PTPRT_ENST00000373201.1_Nonsense_Mutation_p.Y327*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.Y327*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.Y327*|PTPRT_ENST00000373187.1_Nonsense_Mutation_p.Y327*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.Y327*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.Y327* NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 327 Fibronectin type-III 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) TGGTGGTGCGATATTCCACTT 0.567000 59 107 0 0 0.870114 0 0 C10orf137 26098 broad.mit.edu 37 10 127418877 127418877 + Missense_Mutation SNP A A T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:127418877A>T ENST00000337623.3 + 8 1040 c.935A>T c.(934-936)aAt>aTt p.N312I C10orf137_ENST00000356792.4_Missense_Mutation_p.N346I NM_015608.2 NP_056423.2 Q3B7T1 EDRF1_HUMAN chromosome 10 open reading frame 137 346 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) AAACCAATTAATGTGCTAACT 0.308000 80 159 0 0 0.870114 0 0 RIPK2 8767 broad.mit.edu 37 8 90784903 90784903 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:90784903A>G ENST00000220751.4 + 6 1014 c.700A>G c.(700-702)Aat>Gat p.N234D RIPK2_ENST00000540020.1_Missense_Mutation_p.N97D NM_003821.5 NP_003812.1 O43353 RIPK2_HUMAN receptor-interacting serine-threonine kinase 2 234 Protein kinase. activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|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 cytosol ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 10 BRCA - Breast invasive adenocarcinoma(11;0.0474) AGATGTCACCAATCCTTTGCA 0.313000 53 98 0 0 0.870114 0 0 GYS1 2997 broad.mit.edu 37 19 49490600 49490600 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:49490600C>T ENST00000323798.3 - 3 539 c.343G>A c.(343-345)Gtg>Atg p.V115M GYS1_ENST00000263276.6_Intron|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000540532.1_Missense_Mutation_p.V35M|GYS1_ENST00000541188.1_Missense_Mutation_p.V35M|GYS1_ENST00000544287.1_Intron NM_002103.4 NP_002094.2 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) 115 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) TCCAGGAGCACCACCAGAGGG 0.642000 7 21 0 0 0.307466 0 0 VARS 7407 broad.mit.edu 37 6 31760034 31760034 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:31760034G>A ENST00000375663.3 - 6 1271 c.831C>T c.(829-831)gtC>gtT p.V277V VARS_ENST00000444930.2_5'UTR NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 277 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) CATAGGTAATGACCCCAGGAT 0.552000 52 88 0 0 0.870114 0 0 ARSG 22901 broad.mit.edu 37 17 66397567 66397567 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:66397567C>T ENST00000448504.2 + 11 2075 c.1279C>T c.(1279-1281)Cgt>Tgt p.R427C ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Missense_Mutation_p.R263C NM_014960.4 NP_055775.2 Q96EG1 ARSG_HUMAN arylsulfatase G 427 sulfur compound metabolic process endoplasmic reticulum|extracellular space|lysosome arylsulfatase activity|metal ion binding NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 26 BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) CCGCCTGGAGCGTTACAAGGC 0.592000 29 71 0 0 0.717897 0 0 ZBTB12 221527 broad.mit.edu 37 6 31868726 31868726 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:31868726G>A ENST00000375527.2 - 2 532 c.357C>T c.(355-357)tgC>tgT p.C119C C2_ENST00000469372.1_Intron NM_181842.2 NP_862825.1 Q9Y330 ZBT12_HUMAN zinc finger and BTB domain containing 12 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1) 10 GGGCATTCCGGCATTTCTCCA 0.567000 15 83 0 0 0.500413 0 0 XIST 7503 broad.mit.edu 37 X 73069443 73069443 + RNA SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chrX:73069443G>A ENST00000429829.1 - 0 3145 NR_001564.2 TAACTTCAACGTACCGAGTAA 0.403000 37 28 0 0 0.788014 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529517 5529517 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:5529517A>G ENST00000311659.4 - 2 1419 c.1272T>C c.(1270-1272)ggT>ggC p.G424G HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 424 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTTGGTCTCCACCTTGTCCAG 0.547000 71 128 0 0 0.870114 0 0 ITGA5 3678 broad.mit.edu 37 12 54797504 54797504 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:54797504G>A ENST00000293379.4 - 17 1942 c.1681C>T c.(1681-1683)Ctg>Ttg p.L561L RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 561 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 GCCAGGAACAGTGCCCGCCGT 0.562000 25 44 0 0 0.750413 0 0 AHDC1 27245 broad.mit.edu 37 1 27875714 27875714 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:27875714G>A ENST00000374011.2 - 6 3881 c.2913C>T c.(2911-2913)taC>taT p.Y971Y AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Silent_p.Y971Y NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 971 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) CATAGCCGCCGTACTGGGGCA 0.657000 37 26 0 0 0.870114 0 0 RHOU 58480 broad.mit.edu 37 1 228879349 228879349 + Missense_Mutation SNP G G T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:228879349G>T ENST00000366691.3 + 3 1305 c.639G>T c.(637-639)gaG>gaT p.E213D NM_021205.5 NP_067028.1 Q7L0Q8 RHOU_HUMAN ras homolog family member U 213 regulation of small GTPase mediated signal transduction cell projection|cytosol|focal adhesion|Golgi membrane|podosome GTP binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1) 13 Breast(184;0.162) Prostate(94;0.183) ACCTCAAAGAGGTCTTTGATG 0.483000 52 137 2.69774e-35 3.00544e-35 0.870114 1 0 SYNE1 23345 broad.mit.edu 37 6 152542150 152542150 + Nonsense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:152542150G>A ENST00000367255.5 - 119 22289 c.21688C>T c.(21688-21690)Cag>Tag p.Q7230* SYNE1_ENST00000356820.4_Nonsense_Mutation_p.Q1754*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q7230*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q6842*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q7159*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q7159* NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7230 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) GACTGTAGCTGCTCAGCAATC 0.448000 HNSCC(10;0.0054) 46 95 0 0 0.870114 0 0 IYD 389434 broad.mit.edu 37 6 150690236 150690236 + Silent SNP C C A rs138283020 by1000genomes TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:150690236C>A ENST00000344419.3 + 1 209 c.69C>A c.(67-69)gcC>gcA p.A23A IYD_ENST00000392256.2_Silent_p.A23A|IYD_ENST00000392255.3_Silent_p.A23A|IYD_ENST00000229447.5_Silent_p.A23A|IYD_ENST00000500320.3_Silent_p.A23A NM_203395.2 NP_981932.1 Q6PHW0 IYD1_HUMAN iodotyrosine deiodinase 23 cellular nitrogen compound metabolic process|hormone biosynthetic process integral to membrane|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;4.16e-12) TTAAAAATGCCGACAGAAGCA 0.512000 157 274 1.565e-67 1.76932e-67 0.870114 1 0 ECEL1 9427 broad.mit.edu 37 2 233347836 233347836 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:233347836A>G ENST00000304546.1 - 9 1770 c.1560T>C c.(1558-1560)gaT>gaC p.D520D ECEL1_ENST00000409941.1_Silent_p.D520D NM_004826.2 NP_004817.2 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 520 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 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;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) TGTCCACAGCATCGGGTTTCA 0.647000 5 11 0 0 0.217242 0 0 MUC17 140453 broad.mit.edu 37 7 100679747 100679747 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:100679747A>G ENST00000306151.4 + 3 5114 c.5050A>G c.(5050-5052)Act>Gct p.T1684A NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1684 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) GCCAACCTCAACTTATACTGA 0.463000 165 307 0 0 0.870114 0 0 MARS 4141 broad.mit.edu 37 12 57894296 57894296 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:57894296C>T ENST00000262027.5 + 10 1418 c.1284C>T c.(1282-1284)gtC>gtT p.V428V MARS_ENST00000315473.5_Silent_p.V194V|MARS_ENST00000447721.2_3'UTR NM_004990.3 NP_004981.2 P56192 SYMC_HUMAN methionyl-tRNA synthetase 428 methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 33 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) TCAATGCTGTCGAGCTTAAGG 0.537000 11 48 0 0 0.361761 0 0 ERMP1 79956 broad.mit.edu 37 9 5811273 5811273 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr9:5811273C>T ENST00000339450.5 - 7 1254 c.1165G>A c.(1165-1167)Gct>Act p.A389T ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Missense_Mutation_p.A165T NM_024896.2 NP_079172.2 Q7Z2K6 ERMP1_HUMAN endoplasmic reticulum metallopeptidase 1 389 proteolysis endoplasmic reticulum membrane|integral to membrane metal ion binding|metallopeptidase activity endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1) 20 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111) GAAGCAGCAGCCAGCATATCA 0.368000 57 54 0 0 0.870114 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85521681 85521681 + Missense_Mutation SNP G G T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:85521681G>T ENST00000393217.2 + 18 4140 c.4079G>T c.(4078-4080)aGg>aTg p.R1360M NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1360 IQ 2. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) TTCTCCACAAGGCTACATACT 0.398000 94 201 5.71645e-57 6.43675e-57 0.870114 1 0 C19orf35 374872 broad.mit.edu 37 19 2275750 2275750 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:2275750G>A ENST00000342063.3 - 4 1444 c.1351C>T c.(1351-1353)Ctg>Ttg p.L451L NM_198532.2 NP_940934.1 Q6ZS72 CS035_HUMAN chromosome 19 open reading frame 35 451 large_intestine(1)|lung(5)|pancreas(1)|prostate(1) 8 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) TCGCAACACAGCCAGTCCTCG 0.721000 4 0 0 0 0.184627 0 0 TRIM48 79097 broad.mit.edu 37 11 55032522 55032522 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:55032522T>C ENST00000417545.2 + 2 277 c.191T>C c.(190-192)aTt>aCt p.I64T NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 48 intracellular zinc ion binding endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 GACATCCCAATTCTTACTCAG 0.458000 73 143 0 0 0.870114 0 0 APAF1 317 broad.mit.edu 37 12 99100325 99100325 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:99100325T>C ENST00000357310.1 + 18 3106 c.2529T>C c.(2527-2529)caT>caC p.H843H APAF1_ENST00000550527.1_Silent_p.H875H|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000547045.1_Silent_p.H843H|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000549007.1_Silent_p.H843H|APAF1_ENST00000359972.2_Silent_p.H832H|APAF1_ENST00000339433.3_Silent_p.H843H|APAF1_ENST00000551964.1_Silent_p.H886H NM_181868.1 NP_863658.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 886 activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) GTTGGGTTCATGGTGTGATGT 0.373000 92 170 0 0 0.870114 0 0 ATP6AP1 537 broad.mit.edu 37 X 153662708 153662708 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chrX:153662708A>G ENST00000369762.2 + 7 900 c.839A>G c.(838-840)gAc>gGc p.D280G NM_001183.4 NP_001174.2 Q15904 VAS1_HUMAN ATPase, H+ transporting, lysosomal accessory protein 1 280 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5) 14 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCGTACAAGGACCAGTGGGAG 0.557000 81 51 0 0 0.870114 0 0 TULP2 7288 broad.mit.edu 37 19 49385360 49385360 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:49385360T>C ENST00000221399.3 - 12 1520 c.1376A>G c.(1375-1377)tAc>tGc p.Y459C NM_003323.2 NP_003314.2 O00295 TULP2_HUMAN tubby like protein 2 459 visual perception cytoplasm|extracellular region NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 22 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) ATTGAGCGTGTAGACACCGTT 0.527000 5 185 0 0 0.184627 0 0 ZNF408 79797 broad.mit.edu 37 11 46726767 46726767 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:46726767G>A ENST00000311764.2 + 5 1747 c.1517G>A c.(1516-1518)cGt>cAt p.R506H NM_001184751.1|NM_024741.2 NP_001171680.1|NP_079017.1 Q9H9D4 ZN408_HUMAN zinc finger protein 408 506 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CGGGCGTTTCGTCAGCGGGGC 0.657000 40 111 0 0 0.870114 0 0 ACSL4 2182 broad.mit.edu 37 X 108912280 108912280 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chrX:108912280A>G ENST00000340800.2 - 11 1752 c.1248T>C c.(1246-1248)gaT>gaC p.D416D ACSL4_ENST00000348502.6_Silent_p.D375D|ACSL4_ENST00000469796.2_Silent_p.D416D NM_022977.2 NP_075266.1 O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 416 fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2) 22 Icosapent(DB00159)|Troglitazone(DB00197) AAAGAGGTGCATCATATCCCT 0.323000 76 58 0 0 0.870114 0 0 STRN3 29966 broad.mit.edu 37 14 31420083 31420083 + Missense_Mutation SNP T T A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr14:31420083T>A ENST00000355683.5 - 4 743 c.528A>T c.(526-528)agA>agT p.R176S STRN3_ENST00000357479.5_Missense_Mutation_p.R176S NM_014574.3 NP_055389.3 Q13033 STRN3_HUMAN striatin, calmodulin binding protein 3 176 Calmodulin-binding (Potential). negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) TTAAAAGCTGTCTGCCTTGCT 0.338000 52 137 0 0 0.870114 0 0 MPV17 4358 broad.mit.edu 37 2 27535925 27535925 + Missense_Mutation SNP C C A rs140992482 TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:27535925C>A ENST00000380044.1 - 3 177 c.122G>T c.(121-123)cGg>cTg p.R41L MPV17_ENST00000233545.2_Missense_Mutation_p.R41L|MPV17_ENST00000402722.1_Silent_p.A29A|MPV17_ENST00000402310.1_Missense_Mutation_p.R41L|MPV17_ENST00000403262.2_Missense_Mutation_p.R41L|MPV17_ENST00000405983.1_Missense_Mutation_p.R56L|MPV17_ENST00000357186.6_Intron|MPV17_ENST00000405076.1_Missense_Mutation_p.R41L NM_002437.4 NP_002428.1 P39210 MPV17_HUMAN MpV17 mitochondrial inner membrane protein 41 cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process integral to peroxisomal membrane|mitochondrial inner membrane p.R56L(1)|p.R41L(1) lung(4) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGCAGACCCCGCCTCTCCAC 0.592000 29 64 2.64894e-19 2.88975e-19 0.870114 1 0 RB1 5925 broad.mit.edu 37 13 49051536 49051536 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr13:49051536A>G ENST00000267163.4 + 26 2847 c.2709A>G c.(2707-2709)gaA>gaG p.E903E RB1_ENST00000484879.1_3'UTR NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 903 Domain C; mediates interaction with E4F1.|Interaction with LIMD1. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(11) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AACTGGCAGAAATGAGTAAGT 0.299000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 22 32 0 0 0.681144 0 0 ATXN1 6310 broad.mit.edu 37 6 16328183 16328183 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:16328183T>C ENST00000244769.4 - 8 1295 c.359A>G c.(358-360)tAc>tGc p.Y120C ATXN1_ENST00000436367.1_Missense_Mutation_p.Y120C NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 120 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) CAGGTGAGCGTACTGCACGGG 0.662000 33 64 0 0 0.750413 0 0 SMOX 54498 broad.mit.edu 37 20 4163091 4163091 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr20:4163091T>C ENST00000305958.4 + 5 1190 c.965T>C c.(964-966)cTg>cCg p.L322P SMOX_ENST00000278795.3_Intron|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000379460.2_Missense_Mutation_p.L322P NM_175839.1 NP_787033.1 Q9NWM0 SMOX_HUMAN spermine oxidase 322 polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1) 26 Spermine(DB00127) GACTGTGAGCTGATCCCGGCG 0.637000 23 62 0 0 0.667858 0 0 LRIT3 345193 broad.mit.edu 37 4 110791607 110791607 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr4:110791607A>G ENST00000327908.3 + 4 1917 c.1153A>G c.(1153-1155)Acc>Gcc p.T385A LRIT3_ENST00000594814.1_Missense_Mutation_p.T568A|LRIT3_ENST00000409621.2_Missense_Mutation_p.T385A|LRIT3_ENST00000379920.3_Missense_Mutation_p.T523A Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 523 Ser-rich. integral to membrane cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(123;0.0011) CCAATGCATCACCTTTTCTAC 0.463000 4 98 0 0 0.150653 0 0 ARHGEF1 9138 broad.mit.edu 37 19 42408499 42408499 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:42408499C>T ENST00000599846.1 + 23 2418 c.2293C>T c.(2293-2295)Cgg>Tgg p.R765W ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R676W|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R724W|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R691W|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.R709W Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor (GEF) 1 709 cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) GCCCGTGCTGCGGCTCACCTC 0.677000 4 5 0 0 0.150653 0 0 CHD4 1108 broad.mit.edu 37 12 6710842 6710842 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:6710842T>C ENST00000309577.6 - 5 692 c.529A>G c.(529-531)Aac>Gac p.N177D CHD4_ENST00000357008.2_Missense_Mutation_p.N177D|CHD4_ENST00000544484.1_Missense_Mutation_p.N174D|CHD4_ENST00000544040.1_Missense_Mutation_p.N170D Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 177 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 GCCTTGTAGTTGGTGAGGGTT 0.478000 246 437 0 0 0.870114 0 0 HTR5A 3361 broad.mit.edu 37 7 154863209 154863209 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:154863209C>T ENST00000287907.2 + 1 1176 c.600C>T c.(598-600)taC>taT p.Y200Y AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_5'UTR NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 200 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) AGCCTTCCTACGCCGTGTTCT 0.612000 12 32 0 0 0.479597 0 0 AHCTF1 25909 broad.mit.edu 37 1 247024444 247024444 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:247024444T>C ENST00000366508.1 - 29 4130 c.3994A>G c.(3994-3996)Agt>Ggt p.S1332G AHCTF1_ENST00000326225.3_Missense_Mutation_p.S1306G|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.S1297G Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 1297 Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TTCTCTAAACTTTGTGACCCC 0.453000 62 95 0 0 0.870114 0 0 KCNN2 3781 broad.mit.edu 37 5 113822745 113822745 + Splice_Site SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:113822745A>G ENST00000512097.3 + 7 2272 c.e7-1 KCNN2_ENST00000264773.3_Splice_Site|KCNN2_ENST00000507750.1_Splice_Site|KCNN2_ENST00000503706.1_Splice_Site Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) TTCTCTTAACAGGTAAAAAAT 0.373000 41 83 0 0 0.847076 0 0 ZNF771 51333 broad.mit.edu 37 16 30419389 30419389 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:30419389G>A ENST00000319296.5 + 2 392 c.15G>A c.(13-15)caG>caA p.Q5Q ZNF771_ENST00000564550.1_Silent_p.Q5Q|ZNF771_ENST00000566625.1_Silent_p.Q5Q|ZNF771_ENST00000434417.1_Silent_p.Q5Q Q7L3S4 ZN771_HUMAN zinc finger protein 771 5 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Colorectal(24;0.193) CTGGCGAACagcaggcagagg 0.652000 10 15 0 0 0.387290 0 0 ALS2 57679 broad.mit.edu 37 2 202591542 202591542 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:202591542T>C ENST00000264276.6 - 18 3399 c.3027A>G c.(3025-3027)agA>agG p.R1009R ALS2_ENST00000457679.2_Silent_p.R321R NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 1009 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 CAGACATCCCTCTCAAAGCCT 0.448000 6 76 0 0 0.248553 0 0 PLAT 5327 broad.mit.edu 37 8 42040264 42040264 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:42040264A>G ENST00000220809.4 - 8 1032 c.776T>C c.(775-777)cTg>cCg p.L259P PLAT_ENST00000519510.1_Missense_Mutation_p.L196P|PLAT_ENST00000429089.2_Missense_Mutation_p.L259P|PLAT_ENST00000429710.2_Missense_Mutation_p.L133P|PLAT_ENST00000524009.1_Missense_Mutation_p.L170P|PLAT_ENST00000352041.3_Missense_Mutation_p.L213P|PLAT_ENST00000270189.6_Missense_Mutation_p.L259P NM_000930.3 NP_000921.1 P00750 TPA_HUMAN plasminogen activator, tissue 259 Kringle 2. blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GCCCAGGCCCAGTGCCTGGGC 0.592000 101 192 0 0 0.870114 0 0 TMEM68 137695 broad.mit.edu 37 8 56675151 56675151 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:56675151C>T ENST00000521229.1 - 3 580 c.368G>A c.(367-369)tGc>tAc p.C123Y TMEM68_ENST00000519784.1_Intron|TMEM68_ENST00000334667.2_Intron|TMEM68_ENST00000434581.2_Intron|TMEM68_ENST00000523073.1_Intron|TMEM68_ENST00000522576.1_Missense_Mutation_p.C123Y Q96MH6 TMM68_HUMAN transmembrane protein 68 0 integral to membrane acyltransferase activity NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 Epithelial(17;0.000361)|all cancers(17;0.00326) TCCAATGCAGCACACATGAAT 0.403000 65 112 0 0 0.870114 0 0 MTUS2 23281 broad.mit.edu 37 13 29600226 29600226 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr13:29600226A>G ENST00000431530.3 + 1 1479 c.1421A>G c.(1420-1422)aAg>aGg p.K474R NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 464 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 AGTGGGAATAAGGACAGTGTT 0.512000 22 57 0 0 0.608945 0 0 TRGV4 6977 broad.mit.edu 37 7 38393527 38393527 + RNA SNP G G T rs111340760 TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:38393527G>T ENST00000390345.2 - 0 476 GATGTAGCCGGTACTTCCTTC 0.512000 11 95 3.27435e-08 3.41672e-08 0.457914 1 0 STOML1 9399 broad.mit.edu 37 15 74281026 74281026 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr15:74281026C>A ENST00000316900.5 - 4 632 c.508G>T c.(508-510)Gcc>Tcc p.A170S STOML1_ENST00000316911.6_Missense_Mutation_p.A120S|STOML1_ENST00000541638.1_Missense_Mutation_p.A128S|STOML1_ENST00000359750.4_Missense_Mutation_p.A170S|STOML1_ENST00000561656.1_Missense_Mutation_p.A83S|STOML1_ENST00000564777.1_Missense_Mutation_p.A120S NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4 NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2 Q9UBI4 STML1_HUMAN stomatin (EPB72)-like 1 170 integral to membrane sterol binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 GCGTTCTGGGCTGTCATGCGT 0.607000 47 87 2.48254e-18 2.69075e-18 0.870114 1 0 HHIPL1 84439 broad.mit.edu 37 14 100129284 100129284 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr14:100129284G>A ENST00000330710.5 + 6 1672 c.1574G>A c.(1573-1575)gGc>gAc p.G525D HHIPL1_ENST00000357223.2_Missense_Mutation_p.G525D NM_001127258.1 NP_001120730.1 Q96JK4 HIPL1_HUMAN HHIP-like 1 525 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2) 15 Melanoma(154;0.128) ATGGGCCACGGCCAGACCTGT 0.582000 32 61 0 0 0.812448 0 0 DSG3 1830 broad.mit.edu 37 18 29046491 29046491 + Splice_Site SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr18:29046491A>G ENST00000257189.4 + 11 1494 c.e11-1 NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TTGTTCTTACAGAATACACGG 0.358000 80 147 0 0 0.870114 0 0 VPS18 57617 broad.mit.edu 37 15 41192359 41192359 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr15:41192359T>C ENST00000220509.5 + 4 1682 c.1343T>C c.(1342-1344)cTg>cCg p.L448P VPS18_ENST00000558474.1_Intron NM_020857.2 NP_065908.1 Q9P253 VPS18_HUMAN vacuolar protein sorting 18 homolog (S. cerevisiae) 448 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 28 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) TGCTATGCCCTGACCCAGAGC 0.622000 44 108 0 0 0.870114 0 0 NOP14 8602 broad.mit.edu 37 4 2955332 2955332 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr4:2955332G>A ENST00000416614.2 - 5 718 c.653C>T c.(652-654)aCg>aTg p.T218M NOP14_ENST00000314262.6_Missense_Mutation_p.T218M|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.T218M|NOP14_ENST00000502735.1_Missense_Mutation_p.T218M P78316 NOP14_HUMAN NOP14 nucleolar protein 218 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) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 30 TAGCTTCTCCGTGAGCTCGAG 0.483000 203 185 0 0 0.870114 0 0 ACLY 47 broad.mit.edu 37 17 40049293 40049293 + Missense_Mutation SNP G G T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:40049293G>T ENST00000352035.2 - 15 1724 c.1594C>A c.(1594-1596)Cct>Act p.P532T ACLY_ENST00000393896.2_Missense_Mutation_p.P522T|ACLY_ENST00000537919.1_Missense_Mutation_p.P261T|ACLY_ENST00000353196.1_Missense_Mutation_p.P522T|ACLY_ENST00000590151.1_Missense_Mutation_p.P532T NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase 532 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) CACGTGAAAGGGTAGACCATG 0.577000 4 58 0.150653 0.151556 0.150653 1 0 WWP2 11060 broad.mit.edu 37 16 69832614 69832614 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:69832614C>T ENST00000359154.2 + 3 201 c.100C>T c.(100-102)Cgt>Tgt p.R34C WWP2_ENST00000569174.1_Missense_Mutation_p.R34C|WWP2_ENST00000356003.2_Missense_Mutation_p.R34C|WWP2_ENST00000448661.1_Missense_Mutation_p.R34C NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 34 C2. entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GGTGCATAATCGTCAACCTCG 0.542000 OREG0023909 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 56 139 0 0 0.870114 0 0 VSTM2L 128434 broad.mit.edu 37 20 36572445 36572445 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr20:36572445G>A ENST00000373459.4 + 2 424 c.184G>A c.(184-186)Gga>Aga p.G62R VSTM2L_ENST00000373461.4_Silent_p.T135T|VSTM2L_ENST00000373458.3_Silent_p.T118T Q96N03 VTM2L_HUMAN V-set and transmembrane domain containing 2 like 0 Ig-like. central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1) 8 Myeloproliferative disorder(115;0.00878) TGAAGCCCACGGACGAAGGCA 0.642000 9 20 0 0 0.361761 0 0 BET1L 51272 broad.mit.edu 37 11 205968 205968 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:205968A>G ENST00000325147.9 - 2 155 c.95T>C c.(94-96)gTc>gCc p.V32A BET1L_ENST00000382762.3_Missense_Mutation_p.V32A|BET1L_ENST00000332865.6_Missense_Mutation_p.V32A|BET1L_ENST00000486280.1_Missense_Mutation_p.V9A|BET1L_ENST00000410108.1_Missense_Mutation_p.V32A|BET1L_ENST00000529614.2_Missense_Mutation_p.V32A Q9NYM9 BET1L_HUMAN Bet1 golgi vesicular membrane trafficking protein-like 32 t-SNARE coiled-coil homology. protein transport|retrograde transport, endosome to Golgi endosome|SNARE complex SNAP receptor activity all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;4.2e-27)|Epithelial(43;2.8e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.7e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) GAGCCTGGTGACTTTGGAGGC 0.587000 30 79 0 0 0.796494 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150532263 150532263 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:150532263G>A ENST00000271643.4 + 18 3206 c.2970G>A c.(2968-2970)acG>acA p.T990T ADAMTSL4_ENST00000369039.5_Silent_p.T1013T|ADAMTSL4_ENST00000369038.2_Silent_p.T990T NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 990 TSP type-1 6. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) AAGGGGGAACGCAGACACGGG 0.637000 OREG0013787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 110 0 0 0.624587 0 0 BRINP3 339479 broad.mit.edu 37 1 190203594 190203594 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:190203594C>T ENST00000367462.3 - 5 863 c.632G>A c.(631-633)cGg>cAg p.R211Q FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.R109Q NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 211 extracellular region p.R211Q(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) AGGACCAGTCCGTGTTTCTGT 0.383000 66 109 0 0 0.870114 0 0 PDLIM1 9124 broad.mit.edu 37 10 96998377 96998377 + Missense_Mutation SNP T T A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:96998377T>A ENST00000329399.6 - 6 859 c.751A>T c.(751-753)Att>Ttt p.I251F PDLIM1_ENST00000477757.1_5'UTR NM_020992.2 NP_066272.1 O00151 PDLI1_HUMAN PDZ and LIM domain 1 251 response to oxidative stress cytoplasm|cytoskeleton zinc ion binding endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2) 10 Colorectal(252;0.083) Epithelial(162;1.64e-06)|all cancers(201;3.71e-05) GCATTTCCAATCGACGCAGCC 0.493000 18 41 0 0 0.608945 0 0 DENND4B 9909 broad.mit.edu 37 1 153904719 153904719 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:153904719G>A ENST00000361217.4 - 24 4375 c.3957C>T c.(3955-3957)ggC>ggT p.G1319G DENND4B_ENST00000474386.1_5'UTR NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 1319 NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CCAGCACCAGGCCTGGTAGAA 0.587000 8 14 0 0 0.307466 0 0 KIRREL 55243 broad.mit.edu 37 1 158064480 158064480 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:158064480C>A ENST00000368172.1 + 11 1298 c.1286C>A c.(1285-1287)cCg>cAg p.P429Q KIRREL_ENST00000360089.4_Missense_Mutation_p.P451Q|KIRREL_ENST00000368173.3_Missense_Mutation_p.P631Q|KIRREL_ENST00000392272.2_Missense_Mutation_p.P512Q|KIRREL_ENST00000359209.6_Missense_Mutation_p.P615Q|KIRREL_ENST00000416935.2_Missense_Mutation_p.P515Q Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 615 Ig-like C2-type 5. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) GAAGACCGCCCGTCTTCCAGG 0.642000 13 32 3.32936e-07 3.46122e-07 0.539581 1 0 GPR133 283383 broad.mit.edu 37 12 131466593 131466593 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:131466593T>C ENST00000261654.5 + 5 1034 c.475T>C c.(475-477)Tcc>Ccc p.S159P GPR133_ENST00000535015.1_Missense_Mutation_p.S191P NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 159 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) ATGGGAGGCCTCCTTCAGCCC 0.602000 29 72 0 0 0.760397 0 0 KRT4 3851 broad.mit.edu 37 12 53202484 53202484 + Missense_Mutation SNP G G T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:53202484G>T ENST00000293774.4 - 5 1477 c.1207C>A c.(1207-1209)Ctg>Atg p.L403M KRT4_ENST00000551956.1_Missense_Mutation_p.L329M|KRT4_ENST00000458244.2_Missense_Mutation_p.L309M B4DRS2 B4DRS2_HUMAN keratin 4 329 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 GTCTGGTACAGGGCTTCAGCC 0.562000 19 56 3.7963e-18 4.1094e-18 0.654019 1 0 OTOGL 283310 broad.mit.edu 37 12 80660299 80660299 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:80660299C>A ENST00000458043.2 + 20 2272 c.2266C>A c.(2266-2268)Ctc>Atc p.L756I OTOGL_ENST00000547103.1_Missense_Mutation_p.L756I NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 CTGCATTTCTCTCTCTTCCCC 0.468000 26 58 3.28513e-13 3.49747e-13 0.667858 1 0 PRPS1L1 221823 broad.mit.edu 37 7 18066798 18066798 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:18066798T>C ENST00000506618.2 - 1 688 c.608A>G c.(607-609)gAc>gGc p.D203G NM_175886.2 NP_787082.1 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 1 203 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) CACTATGCAGTCCACTTCATT 0.463000 64 114 0 0 0.870114 0 0 ITIH2 3698 broad.mit.edu 37 10 7791150 7791150 + Splice_Site SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:7791150G>A ENST00000358415.4 + 21 2860 c.2693_splice c.e21-1 p.R898_splice ITIH2_ENST00000379587.4_Splice_Site_p.R887_splice NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 898 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TTCCTTGCAGGGGCTTACAGA 0.493000 110 204 0 0 0.870114 0 0 RBM19 9904 broad.mit.edu 37 12 114395588 114395588 + Splice_Site SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:114395588T>C ENST00000545145.2 - 6 917 c.840_splice c.e6+1 p.E280_splice RBM19_ENST00000392561.3_Splice_Site_p.E280_splice|RBM19_ENST00000261741.5_Splice_Site_p.E280_splice NM_001146699.1 NP_001140171.1 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 280 multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) CACACGCACCTCGGCTCTGGC 0.622000 49 115 0 0 0.870114 0 0 ZNF57 126295 broad.mit.edu 37 19 2918270 2918270 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:2918270A>G ENST00000306908.5 + 4 1799 c.1651A>G c.(1651-1653)Agt>Ggt p.S551G AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.S519G NM_173480.2 NP_775751.1 Q68EA5 ZNF57_HUMAN zinc finger protein 57 551 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18) TTCTAAAACCAGTGAGAGCAC 0.408000 59 49 0 0 0.870114 0 0 BRD9 65980 broad.mit.edu 37 5 884146 884146 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:884146C>T ENST00000323510.4 - 5 584 c.585G>A c.(583-585)acG>acA p.T195T BRD9_ENST00000494422.1_Intron|BRD9_ENST00000435709.2_Silent_p.T175T|BRD9_ENST00000483173.1_Silent_p.T238T|BRD9_ENST00000467963.1_Silent_p.T291T|BRD9_ENST00000388890.4_Silent_p.T175T Q9H8M2 BRD9_HUMAN bromodomain containing 9 291 Bromo. nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) CGGTACTGTCCGTCAAGCTGC 0.637000 32 69 0 0 0.812448 0 0 FZD10 11211 broad.mit.edu 37 12 130647929 130647929 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:130647929A>G ENST00000539839.1 + 1 926 c.344A>G c.(343-345)cAt>cGt p.H115R FZD10_ENST00000229030.4_Missense_Mutation_p.M148V NM_007197.3 NP_009128.1 Q9ULW2 FZD10_HUMAN frizzled family receptor 10 0 FZ. brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) CTACCTGTGCATGGAGGCGCC 0.667000 41 64 0 0 0.870114 0 0 MYH10 4628 broad.mit.edu 37 17 8409751 8409751 + Missense_Mutation SNP G G C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:8409751G>C ENST00000360416.3 - 27 3409 c.3271C>G c.(3271-3273)Ctc>Gtc p.L1091V MYH10_ENST00000269243.4_Missense_Mutation_p.L1060V|MYH10_ENST00000396239.1_Missense_Mutation_p.L1081V|MYH10_ENST00000379980.4_Missense_Mutation_p.L1076V NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 1060 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TCCCCGTCGAGTTTTCTTTTG 0.512000 84 154 0 0 0.870114 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140762925 140762925 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:140762925G>A ENST00000518325.1 + 1 459 c.459G>A c.(457-459)ccG>ccA p.P153P PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCGGTTTCCGTTAAGCGAGG 0.478000 4 94 0 0 0.150653 0 0 MCRS1 10445 broad.mit.edu 37 12 49953240 49953240 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:49953240C>T ENST00000550165.1 - 13 1348 c.1082G>A c.(1081-1083)cGt>cAt p.R361H MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000546244.1_Missense_Mutation_p.R170H|MCRS1_ENST00000357123.4_Missense_Mutation_p.R374H|MCRS1_ENST00000343810.4_Missense_Mutation_p.R361H Q96EZ8 MCRS1_HUMAN microspherule protein 1 361 DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|MLL1 complex|nucleolus protein binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11) 23 CCTCACCTCACGCGAGCGCAT 0.602000 20 44 0 0 0.624587 0 0 COL6A2 1292 broad.mit.edu 37 21 47532364 47532364 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr21:47532364T>C ENST00000300527.4 + 3 691 c.587T>C c.(586-588)cTg>cCg p.L196P COL6A2_ENST00000409416.1_Missense_Mutation_p.L196P|COL6A2_ENST00000357838.4_Missense_Mutation_p.L196P|COL6A2_ENST00000460886.1_3'UTR|COL6A2_ENST00000397763.1_Missense_Mutation_p.L196P|COL6A2_ENST00000310645.5_Missense_Mutation_p.L196P NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 196 Nonhelical region.|VWFA 1. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) AACCAGAACCTGAAGGAGCAG 0.706000 16 20 0 0 0.479597 0 0 ERAP2 64167 broad.mit.edu 37 5 96251400 96251400 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:96251400T>C ENST00000437043.3 + 18 3377 c.2666T>C c.(2665-2667)tTg>tCg p.L889S CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Missense_Mutation_p.L844S NM_001130140.1|NM_022350.3 NP_001123612.1|NP_071745.1 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 889 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) AGATTTGACTTGGGCTCATAT 0.294000 49 272 0 0 0.870114 0 0 MARK1 4139 broad.mit.edu 37 1 220808856 220808856 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:220808856C>T ENST00000402574.1 + 12 1858 c.856C>T c.(856-858)Cgt>Tgt p.R286C MARK1_ENST00000366918.4_Missense_Mutation_p.R399C|MARK1_ENST00000366917.4_Missense_Mutation_p.R421C NM_018650.3 NP_061120.3 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 421 Protein kinase. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) GAAGCAGCGGCGTTTCAGTGA 0.463000 34 72 0 0 0.788014 0 0 SIL1 64374 broad.mit.edu 37 5 138456826 138456826 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:138456826T>C ENST00000394817.2 - 3 281 c.142A>G c.(142-144)Acc>Gcc p.T48A SIL1_ENST00000509534.1_Missense_Mutation_p.T55A|SIL1_ENST00000265195.5_Missense_Mutation_p.T48A NM_022464.4 NP_071909.1 Q9H173 SIL1_HUMAN SIL1 nucleotide exchange factor 48 Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity). intracellular protein transport|protein folding|transmembrane transport endoplasmic reticulum lumen unfolded protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GTTTCTTTGGTGCTGCTCTTC 0.527000 Marinesco-Sjgren syndrome 69 141 0 0 0.870114 0 0 IQCK 124152 broad.mit.edu 37 16 19800174 19800174 + Missense_Mutation SNP T T A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:19800174T>A ENST00000320394.6 + 8 1319 c.620T>A c.(619-621)aTc>aAc p.I207N IQCK_ENST00000541926.1_Intron|IQCK_ENST00000433597.2_Missense_Mutation_p.I119N|IQCK_ENST00000564186.1_Missense_Mutation_p.I207N|IQCK_ENST00000562762.1_3'UTR NM_153208.1 NP_694940.1 Q8N0W5 IQCK_HUMAN IQ motif containing K 207 kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 CGGCCGCCAATCCCACTCTCG 0.483000 13 139 0 0 0.479597 0 0 ACSL1 2180 broad.mit.edu 37 4 185697722 185697722 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr4:185697722T>C ENST00000515030.1 - 7 997 c.672A>G c.(670-672)atA>atG p.I224M ACSL1_ENST00000454703.2_Missense_Mutation_p.I53M|ACSL1_ENST00000437665.3_Missense_Mutation_p.I53M|ACSL1_ENST00000507295.1_Missense_Mutation_p.I190M|ACSL1_ENST00000504342.1_Missense_Mutation_p.I224M|ACSL1_ENST00000513317.1_Missense_Mutation_p.I224M|ACSL1_ENST00000281455.2_Missense_Mutation_p.I224M|ACSL1_ENST00000504900.1_Missense_Mutation_p.I224M P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 224 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2) 38 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CCATGACAACTATGATTTTAA 0.488000 56 43 0 0 0.870114 0 0 ZNF777 27153 broad.mit.edu 37 7 149129497 149129497 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:149129497C>T ENST00000247930.4 - 6 2189 c.1866G>A c.(1864-1866)aaG>aaA p.K622K NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 622 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) AGCTGGGTGACTTGGGACGCG 0.667000 43 72 0 0 0.870114 0 0 COG2 22796 broad.mit.edu 37 1 230805234 230805234 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:230805234G>A ENST00000534989.1 + 7 885 c.550G>A c.(550-552)Gcg>Acg p.A184T COG2_ENST00000494371.1_3'UTR|COG2_ENST00000366668.3_Missense_Mutation_p.A243T|COG2_ENST00000366669.4_Missense_Mutation_p.A243T|COG2_ENST00000535166.1_Missense_Mutation_p.A127T Q14746 COG2_HUMAN component of oligomeric golgi complex 2 243 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3) 27 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) GACACGGGACGCGGAGGCCTT 0.488000 39 77 0 0 0.847076 0 0 MRPS22 56945 broad.mit.edu 37 3 139062900 139062900 + Nonsense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:139062900G>A ENST00000495075.1 + 3 464 c.32G>A c.(31-33)tGg>tAg p.W11* MRPS22_ENST00000465056.1_Nonsense_Mutation_p.W11*|MRPS22_ENST00000310776.4_Nonsense_Mutation_p.W11* P82650 RT22_HUMAN mitochondrial ribosomal protein S22 11 mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 GTATTGCTGTGGAGCCTCTTG 0.592000 23 39 0 0 0.693898 0 0 RNASEL 6041 broad.mit.edu 37 1 182550456 182550456 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:182550456G>A ENST00000367559.3 - 5 2062 c.1809C>T c.(1807-1809)tcC>tcT p.S603S RNASEL_ENST00000539397.1_Silent_p.S603S|RNASEL_ENST00000444138.1_Silent_p.S603S NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 603 KEN. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 TTTTGATGTCGGATTCATTTC 0.428000 6 340 0 0 0.248553 0 0 MYOM2 9172 broad.mit.edu 37 8 2077161 2077161 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:2077161A>G ENST00000262113.4 + 32 3882 c.3741A>G c.(3739-3741)atA>atG p.I1247M MYOM2_ENST00000523438.1_Missense_Mutation_p.I672M NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 1247 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) CAGAAGGAATACGACTTCAGT 0.448000 40 96 0 0 0.870114 0 0 MADD 8567 broad.mit.edu 37 11 47305943 47305943 + Missense_Mutation SNP C C G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:47305943C>G ENST00000342922.4 + 12 2341 c.1984C>G c.(1984-1986)Cat>Gat p.H662D MADD_ENST00000406482.1_Missense_Mutation_p.H662D|MADD_ENST00000395344.3_Missense_Mutation_p.H662D|MADD_ENST00000402799.1_Missense_Mutation_p.H662D|MADD_ENST00000402192.2_Missense_Mutation_p.H662D|MADD_ENST00000311027.5_Missense_Mutation_p.H662D|MADD_ENST00000349238.3_Missense_Mutation_p.H662D|MADD_ENST00000395336.3_Missense_Mutation_p.H662D|MADD_ENST00000407859.3_Missense_Mutation_p.H662D NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 662 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) CCCTCTGACACATGCAGCACT 0.582000 36 54 0 0 0.819951 0 0 PSPH 5723 broad.mit.edu 37 7 56085002 56085002 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:56085002C>T ENST00000395471.3 - 6 1151 c.346G>A c.(346-348)Gta>Ata p.V116I PSPH_ENST00000275605.3_Missense_Mutation_p.V116I|PSPH_ENST00000459834.1_Intron P78330 SERB_HUMAN phosphoserine phosphatase 116 L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity p.V116I(1) 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) ACATGCTCTACAATACTCCTA 0.393000 4 127 0 0 0.150653 0 0 NAV1 89796 broad.mit.edu 37 1 201779752 201779752 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:201779752G>A ENST00000367296.4 + 24 5083 c.4663G>A c.(4663-4665)Gtc>Atc p.V1555I NAV1_ENST00000295624.6_Missense_Mutation_p.V1552I|NAV1_ENST00000367295.1_Missense_Mutation_p.V1161I|NAV1_ENST00000367300.3_Missense_Mutation_p.V1495I|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.V1547I|NAV1_ENST00000367302.1_Missense_Mutation_p.V1508I NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 1555 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 CCGGCGCCTCGTCCTCTCGGG 0.622000 4 36 0 0 0.150653 0 0 TRIT1 54802 broad.mit.edu 37 1 40307451 40307451 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:40307451C>A ENST00000316891.5 - 11 1383 c.1369G>T c.(1369-1371)Ggg>Tgg p.G457W TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000441669.2_Missense_Mutation_p.G375W|TRIT1_ENST00000537440.1_Missense_Mutation_p.G153W|TRIT1_ENST00000372818.1_Missense_Mutation_p.G431W|TRIT1_ENST00000545233.1_Missense_Mutation_p.G211W|TRIT1_ENST00000541099.1_Missense_Mutation_p.G75W|TRIT1_ENST00000537223.1_Missense_Mutation_p.G153W NM_017646.4 NP_060116.2 Q9H3H1 MOD5_HUMAN tRNA isopentenyltransferase 1 457 tRNA processing mitochondrion ATP binding|metal ion binding|tRNA dimethylallyltransferase activity breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1) 15 all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TCATTCTGCCCTGGGGATCCC 0.473000 8 367 0.0381472 0.038514 0.278610 1 0 COL4A3BP 10087 broad.mit.edu 37 5 74754945 74754945 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:74754945C>T ENST00000380494.5 - 4 970 c.677G>A c.(676-678)cGt>cAt p.R226H COL4A3BP_ENST00000405807.4_Missense_Mutation_p.R98H|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.R98H NM_001130105.1 NP_001123577.1 Q9Y5P4 C43BP_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) binding protein 98 ER to Golgi ceramide transport|immune response cytosol|endoplasmic reticulum membrane|Golgi apparatus ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1) 16 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;1e-53) ATCCTGAGCACGAAGATACCA 0.388000 65 109 0 0 0.870114 0 0 ZMYND12 84217 broad.mit.edu 37 1 42914182 42914182 + Missense_Mutation SNP A A G rs144825054 TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:42914182A>G ENST00000372565.3 - 3 649 c.380T>C c.(379-381)gTa>gCa p.V127A ZMYND12_ENST00000433602.2_Intron NM_032257.4 NP_115633.3 Q9H0C1 ZMY12_HUMAN zinc finger, MYND-type containing 12 127 intracellular zinc ion binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2) 17 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CACAAGCTCTACGGAGCTCAG 0.522000 20 21 0 0 0.557998 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 4 54 0 0 0.184627 0 0 KRTAP19-2 337969 broad.mit.edu 37 21 31859576 31859576 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr21:31859576C>A ENST00000334055.3 - 1 179 c.92G>T c.(91-93)aGa>aTa p.R31I NM_181608.1 NP_853639.1 Q3LHN2 KR192_HUMAN keratin associated protein 19-2 31 intermediate filament endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 TCCACAGCCTCTGTGGCCACA 0.512000 39 86 1.15505e-17 1.2471e-17 0.847076 1 0 TTN 7273 broad.mit.edu 37 2 179400235 179400235 + Nonsense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:179400235G>A ENST00000589042.1 - 358 101331 c.101107C>T c.(101107-101109)Cga>Tga p.R33703* TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R24763*|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R31135*|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R24638*|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R32062*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R24830*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32062 Ig-like 148. 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) ACAGAATCTCGTGAGACATCA 0.438000 32 73 0 0 0.740014 0 0 RELN 5649 broad.mit.edu 37 7 103126801 103126801 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:103126801C>T ENST00000428762.1 - 61 9985 c.9826G>A c.(9826-9828)Gca>Aca p.A3276T RELN_ENST00000343529.5_Missense_Mutation_p.A3276T|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.A3276T NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 3276 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GTGACTCTTGCGGACTCAAAA 0.498000 4 171 0 0 0.184627 0 0 PRSS33 260429 broad.mit.edu 37 16 2834653 2834653 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:2834653T>C ENST00000293851.5 - 6 994 c.835A>G c.(835-837)Agc>Ggc p.S279G PRSS33_ENST00000570702.1_Missense_Mutation_p.S279G|PRSS33_ENST00000576886.1_3'UTR NM_152891.2 NP_690851.2 Q8NF86 PRS33_HUMAN protease, serine, 33 279 Peptidase S1. proteolysis serine-type endopeptidase activity prostate(1) 1 CATTAGAAGCTGACGCGAGCC 0.627000 3 9 0 0 0.115264 0 0 PDIA2 64714 broad.mit.edu 37 16 336667 336667 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:336667G>A ENST00000219406.6 + 9 1372 c.1354G>A c.(1354-1356)Gag>Aag p.E452K PDIA2_ENST00000404312.1_Missense_Mutation_p.E449K NM_006849.2 NP_006840.2 Q13087 PDIA2_HUMAN protein disulfide isomerase family A, member 2 452 Thioredoxin 2. apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia endoplasmic reticulum lumen electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 17 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) CACGGCCAACGAGCTGGATGC 0.612000 21 34 0 0 0.667858 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140725001 140725001 + Missense_Mutation SNP A A T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:140725001A>T ENST00000253812.6 + 1 1401 c.1401A>T c.(1399-1401)agA>agT p.R467S PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAACCCCAGAGGAGCCTCCA 0.537000 90 160 0 0 0.870114 0 0 MOB3C 148932 broad.mit.edu 37 1 47078581 47078581 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:47078581C>T ENST00000371940.1 - 1 3556 c.482G>A c.(481-483)cGt>cAt p.R161H MOB3C_ENST00000319928.3_Missense_Mutation_p.R138H|MOB3C_ENST00000477318.1_5'UTR|MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000271139.8_Missense_Mutation_p.R190H Q70IA8 MOL2C_HUMAN MOB kinase activator 3C 138 metal ion binding p.R190H(1) CTCACCAACACGCGTGGGAAA 0.577000 12 9 0 0 0.435327 0 0 GPR107 57720 broad.mit.edu 37 9 132897302 132897302 + Splice_Site SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr9:132897302A>G ENST00000372406.1 + 20 2213 c.e20-1 GPR107_ENST00000372410.3_Splice_Site|GPR107_ENST00000347136.6_Splice_Site NM_001136557.1 NP_001130029.1 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 integral to membrane endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 11 Ovarian(14;0.000531) TTCCTTGTTCAGTGTGACAAC 0.498000 10 10 0 0 0.335167 0 0 BAG6 7917 broad.mit.edu 37 6 31615405 31615405 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:31615405C>T ENST00000404765.2 - 7 1040 c.751G>A c.(751-753)Gcg>Acg p.A251T BAG6_ENST00000211379.5_Missense_Mutation_p.A251T|BAG6_ENST00000439687.2_Missense_Mutation_p.A251T|BAG6_ENST00000375976.4_Missense_Mutation_p.A251T|BAG6_ENST00000375964.6_Missense_Mutation_p.A257T|BAG6_ENST00000362049.6_Missense_Mutation_p.A251T P46379 BAG6_HUMAN BCL2-associated athanogene 6 257 4 X 29 AA approximate repeats.|Pro-rich. apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 GTTGGGCCCGCTGGGGCTGGG 0.592000 97 134 0 0 0.870114 0 0 ZNF319 57567 broad.mit.edu 37 16 58031166 58031166 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:58031166C>T ENST00000299237.2 - 2 1626 c.1004G>A c.(1003-1005)cGc>cAc p.R335H NM_020807.1 NP_065858.1 Q9P2F9 ZN319_HUMAN zinc finger protein 319 335 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1) 8 GCTGTGTGTGCGCTCATGCTG 0.682000 5 23 0 0 0.307466 0 0 DCUN1D3 123879 broad.mit.edu 37 16 20871211 20871211 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:20871211A>G ENST00000324344.3 - 3 1197 c.912T>C c.(910-912)acT>acC p.T304T ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Silent_p.T304T NM_173475.2 NP_775746.1 Q8IWE4 DCNL3_HUMAN DCN1, defective in cullin neddylation 1, domain containing 3 304 negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C perinuclear region of cytoplasm NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2) 14 GBM - Glioblastoma multiforme(48;0.249) AGAGCCACTAAGTCTGCTCCT 0.542000 15 25 0 0 0.479597 0 0 ZNF433 163059 broad.mit.edu 37 19 12126007 12126007 + Nonsense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:12126007C>A ENST00000419886.2 - 5 1861 c.1570G>T c.(1570-1572)Gag>Tag p.E524* ZNF433_ENST00000344980.6_Nonsense_Mutation_p.E559*|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA Q8N7K0 ZN433_HUMAN zinc finger protein 433 559 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1) 14 TAAGGTTTCTCTCCAGTGTGA 0.458000 70 142 2.23399e-28 2.46591e-28 0.870114 1 0 TRIP12 9320 broad.mit.edu 37 2 230654396 230654396 + Silent SNP C C T rs146874504 byFrequency TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:230654396C>T ENST00000283943.5 - 30 4579 c.4401G>A c.(4399-4401)ccG>ccA p.P1467P TRIP12_ENST00000389044.4_Silent_p.P1515P|TRIP12_ENST00000389045.3_Silent_p.P1197P NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1467 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) CATCTAATGACGGGTCTTCAA 0.358000 103 181 0 0 0.870114 0 0 C1QTNF5 114902 broad.mit.edu 37 11 119210050 119210050 + Silent SNP G G C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:119210050G>C ENST00000445041.2 - 15 3518 c.723C>G c.(721-723)gtC>gtG p.V241V C1QTNF5_ENST00000525657.1_5'UTR|C1QTNF5_ENST00000528368.1_Silent_p.V241V|MFRP_ENST00000530681.1_3'UTR|MFRP_ENST00000555262.1_3'UTR NM_001278431.1|NM_015645.3|NM_031433.2 NP_001265360.1|NP_056460.1|NP_113621.1 Q9BY79 MFRP_HUMAN C1q and tumor necrosis factor related protein 5 0 CUB 1. embryo development integral to membrane endometrium(1)|lung(2) 3 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) ACTAAGCAAAGACTGGGGAGC 0.567000 28 54 0 0 0.760397 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42364521 42364521 + Missense_Mutation SNP A A T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr15:42364521A>T ENST00000290472.3 - 14 1481 c.1387T>A c.(1387-1389)Ttg>Atg p.L463M NM_178034.3 NP_828848.3 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD (cytosolic) 463 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) TTGAGGCTCAAGTAGAGGGGC 0.567000 81 183 0 0 0.870114 0 0 TRGV2 6974 broad.mit.edu 37 7 38402598 38402598 + RNA SNP T T C rs3956758 TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:38402598T>C ENST00000426402.2 - 0 410 CAACACAACCTTGGAGTTGTA 0.458000 22 123 0 0 0.760397 0 0 RNF217 154214 broad.mit.edu 37 6 125397823 125397823 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:125397823A>G ENST00000521654.2 + 4 1302 c.1302A>G c.(1300-1302)gaA>gaG p.E434E RNF217_ENST00000275184.6_Silent_p.E78E|RNF217_ENST00000359704.2_Silent_p.E142E|RNF217_ENST00000368414.2_5'UTR|RNF217_ENST00000560949.1_Silent_p.E199E Q8TC41 RN217_HUMAN ring finger protein 217 142 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) AGCGAACTGAAGGATGTGACC 0.408000 45 103 0 0 0.870114 0 0 DNAH17 8632 broad.mit.edu 37 17 76430163 76430163 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:76430163C>A ENST00000389840.5 - 75 12278 c.12154G>T c.(12154-12156)Gac>Tac p.D4052Y DNAH17_ENST00000585328.1_Missense_Mutation_p.D4053Y|DNAH17_ENST00000586052.1_5'UTR 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) ATGGTGAGGTCCCCGTTGTTG 0.597000 5 175 0.014758 0.0149538 0.184627 1 0 RBM42 79171 broad.mit.edu 37 19 36128233 36128233 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:36128233C>T ENST00000262633.4 + 9 1414 c.1309C>T c.(1309-1311)Cgc>Tgc p.R437C RBM42_ENST00000588161.1_Missense_Mutation_p.R407C|RBM42_ENST00000360475.4_Missense_Mutation_p.R408C|RBM42_ENST00000586618.1_Missense_Mutation_p.R141C|RBM42_ENST00000589871.1_Missense_Mutation_p.R415C|RBM42_ENST00000592202.1_Missense_Mutation_p.R383C|RBM42_ENST00000589559.1_Intron NM_024321.3 NP_077297.2 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 437 Necessary for interaction with HNRNPK (By similarity).|RRM. cytoplasm|nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1) 21 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CGACTACGTGCGCGCCATGCG 0.632000 21 49 0 0 0.667858 0 0 MYH8 4626 broad.mit.edu 37 17 10304593 10304593 + Splice_Site SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:10304593T>C ENST00000403437.2 - 24 3201 c.3108_splice c.e24+1 p.D1036_splice CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1036 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TGTGCTTACATCATCCACTTG 0.383000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 8 324 0 0 0.307466 0 0 TIAM1 7074 broad.mit.edu 37 21 32492816 32492816 + Missense_Mutation SNP C C T rs143032407 byFrequency TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr21:32492816C>T ENST00000286827.3 - 29 5117 c.4646G>A c.(4645-4647)cGc>cAc p.R1549H TIAM1_ENST00000541036.1_Missense_Mutation_p.R1489H NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1549 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CTGTGCCATGCGGGACGCGTG 0.597000 39 75 0 0 0.847076 0 0 MALAT1 378938 broad.mit.edu 37 11 65272262 65272262 + RNA SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:65272262C>A ENST00000534336.1 + 0 7030 NR_002819.2 TTCTCTCTCCCCTCCCTTGGT 0.418000 29 68 6.00712e-18 6.49419e-18 0.760397 1 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 5 72 0 0 0.248553 0 0 TRPM2 7226 broad.mit.edu 37 21 45795728 45795728 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr21:45795728G>A ENST00000397928.1 + 6 1229 c.784G>A c.(784-786)Gcc>Acc p.A262T TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.A262T|TRPM2_ENST00000397932.2_Missense_Mutation_p.A262T|TRPM2_ENST00000300481.9_Missense_Mutation_p.A262T NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 262 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CAGCTTCCCCGCCGAGTACAT 0.602000 15 25 0 0 0.457914 0 0 RORC 6097 broad.mit.edu 37 1 151785790 151785790 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:151785790G>A ENST00000356728.6 - 7 1190 c.1036C>T c.(1036-1038)Cgg>Tgg p.R346W RORC_ENST00000318247.6_Missense_Mutation_p.R367W|RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Missense_Mutation_p.R421W NM_001001523.1 NP_001001523.1 P51449 RORG_HUMAN RAR-related orphan receptor C 367 Ligand-binding. 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 autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TTGTAGGCCCGGCACATCCTA 0.567000 108 207 0 0 0.870114 0 0 ZNF32 7580 broad.mit.edu 37 10 44139700 44139700 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:44139700T>C ENST00000395797.1 - 3 808 c.620A>G c.(619-621)cAc>cGc p.H207R ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.H207R|ZNF32-AS3_ENST00000458063.1_RNA NM_001005368.1 NP_001005368.1 P17041 ZNF32_HUMAN zinc finger protein 32 207 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 14 all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157) Lung(62;0.179) GACTCTGATGTGAACAATTAA 0.478000 6 166 0 0 0.217242 0 0 APBB1 322 broad.mit.edu 37 11 6431909 6431909 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:6431909G>A ENST00000389906.2 - 2 768 c.669C>T c.(667-669)agC>agT p.S223S APBB1_ENST00000533407.1_Intron|APBB1_ENST00000299402.6_Silent_p.S223S|APBB1_ENST00000311051.3_Silent_p.S223S NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 223 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) AGGTAGCCCAGCTTGAGTCCT 0.612000 20 50 0 0 0.654019 0 0 HADHA 3030 broad.mit.edu 37 2 26416536 26416536 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:26416536C>T ENST00000380649.3 - 17 1924 c.1795G>A c.(1795-1797)Gtg>Atg p.V599M NM_000182.4 NP_000173.2 P40939 ECHA_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 599 fatty acid beta-oxidation fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1) 30 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) NADH(DB00157) TCTTCCGCCACATGTTTCGCT 0.547000 112 188 0 0 0.870114 0 0 CTNNA2 1496 broad.mit.edu 37 2 80097023 80097023 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:80097023A>G ENST00000466387.1 + 9 1271 c.547A>G c.(547-549)Atg>Gtg p.M183V CTNNA2_ENST00000361291.4_Missense_Mutation_p.M217V|CTNNA2_ENST00000496558.1_Missense_Mutation_p.M183V|CTNNA2_ENST00000541047.1_Missense_Mutation_p.M183V|CTNNA2_ENST00000402739.4_Missense_Mutation_p.M183V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.M183V P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 183 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 TGGGAAAGAGATGGTGAAACT 0.413000 4 185 0 0 0.150653 0 0 PEMT 10400 broad.mit.edu 37 17 17425656 17425656 + Silent SNP G G T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:17425656G>T ENST00000395781.2 - 3 339 c.258C>A c.(256-258)ccC>ccA p.P86P PEMT_ENST00000395782.1_Silent_p.P49P|PEMT_ENST00000435340.2_Silent_p.P64P|PEMT_ENST00000255389.5_Silent_p.P86P|PEMT_ENST00000395783.1_Silent_p.P49P NM_001267552.1 NP_001254481.1 Q9UBM1 PEMT_HUMAN phosphatidylethanolamine N-methyltransferase 49 cell proliferation|phosphatidylcholine biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane phosphatidylethanolamine N-methyltransferase activity endometrium(1)|kidney(1)|large_intestine(2)|prostate(3) 7 Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891) AGGCCAGGTAGGGGGATCCGA 0.572000 5 28 0.00116845 0.00119258 0.217242 1 0 NRP2 8828 broad.mit.edu 37 2 206562300 206562300 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:206562300G>A ENST00000360409.3 + 2 897 c.106G>A c.(106-108)Gat>Aat p.D36N NRP2_ENST00000540841.1_Missense_Mutation_p.D36N|NRP2_ENST00000540178.1_Missense_Mutation_p.D36N|NRP2_ENST00000355117.4_Missense_Mutation_p.D36N|NRP2_ENST00000412873.2_Missense_Mutation_p.D36N|NRP2_ENST00000357118.4_Missense_Mutation_p.D36N|NRP2_ENST00000357785.5_Missense_Mutation_p.D36N|NRP2_ENST00000272849.3_Missense_Mutation_p.D36N|NRP2_ENST00000417189.1_Missense_Mutation_p.D36N NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718.1|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 36 CUB 1. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 GAATTCCAAAGATGCTGGCTA 0.512000 7 688 0 0 0.307466 0 0 UQCC1 55245 broad.mit.edu 37 20 33961989 33961989 + Missense_Mutation SNP A A T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr20:33961989A>T ENST00000397554.1 - 5 414 c.404T>A c.(403-405)cTa>cAa p.L135Q UQCC_ENST00000407996.2_Intron|UQCC_ENST00000397556.3_Missense_Mutation_p.L36Q|UQCC_ENST00000374385.5_Missense_Mutation_p.L135Q|UQCC_ENST00000540457.1_Intron|UQCC_ENST00000359226.2_Intron|UQCC_ENST00000491125.1_5'UTR|UQCC_ENST00000542501.1_Intron|UQCC_ENST00000374384.2_Missense_Mutation_p.L135Q|UQCC_ENST00000374380.2_Missense_Mutation_p.L67Q|UQCC_ENST00000349714.5_Intron|UQCC_ENST00000374377.5_Intron Q9NVA1 UQCC_HUMAN 135 LR -> MG (in Ref. 2; BAB14217). cytoplasmic membrane-bounded vesicle breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.00252) TAACTTACTTAGAAAGAATTC 0.343000 64 112 0 0 0.870114 0 0 NNT 23530 broad.mit.edu 37 5 43609438 43609438 + Silent SNP T T A rs143463864 byFrequency TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:43609438T>A ENST00000264663.5 + 2 362 c.141T>A c.(139-141)ccT>ccA p.P47P NNT_ENST00000344920.4_Silent_p.P47P|NNT_ENST00000512996.2_Intron NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 47 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) GTAAAGCGCCTGTAAAACCAG 0.383000 3 107 0 0 0.115264 0 0 LPP 4026 broad.mit.edu 37 3 188590487 188590487 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:188590487A>G ENST00000312675.4 + 10 1892 c.1646A>G c.(1645-1647)cAg>cGg p.Q549R LPP_ENST00000543006.1_Missense_Mutation_p.Q549R NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma 549 LIM zinc-binding 3. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) GCCCCGGGCCAGGAGGAGACT 0.547000 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 31 123 0 0 0.827153 0 0 UMODL1 89766 broad.mit.edu 37 21 43519186 43519186 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr21:43519186A>G ENST00000400427.1 + 7 1262 c.866A>G c.(865-867)cAg>cGg p.Q289R UMODL1_ENST00000408989.2_Missense_Mutation_p.Q361R|UMODL1_ENST00000408910.2_Missense_Mutation_p.Q361R|UMODL1_ENST00000400424.1_Missense_Mutation_p.Q289R NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 361 EGF-like 1; calcium-binding (Potential). cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 ACACAGAGCCAGGCACTGGCA 0.577000 25 73 0 0 0.667858 0 0 PIK3C3 5289 broad.mit.edu 37 18 39609379 39609379 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr18:39609379C>T ENST00000262039.4 + 15 1767 c.1681C>T c.(1681-1683)Cgc>Tgc p.R561C PIK3C3_ENST00000398870.3_Missense_Mutation_p.R498C|PIK3C3_ENST00000593098.1_Missense_Mutation_p.R46C NM_002647.2 NP_002638.2 Q8NEB9 PK3C3_HUMAN phosphatidylinositol 3-kinase, catalytic subunit type 3 561 cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1) 49 GGCAGTACAACGCGAAAGTGG 0.408000 TSP Lung(28;0.18) 34 82 0 0 0.779181 0 0 KPTN 11133 broad.mit.edu 37 19 47980969 47980969 + Missense_Mutation SNP A A C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:47980969A>C ENST00000338134.3 - 9 964 c.857T>G c.(856-858)gTg>gGg p.V286G KPTN_ENST00000536339.1_Missense_Mutation_p.V46G NM_007059.2 NP_008990.2 Q9Y664 KPTN_HUMAN kaptin (actin binding protein) 286 actin filament organization|cellular component movement|sensory perception of sound actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium actin binding breast(1)|lung(3)|ovary(2)|pancreas(2) 8 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694) TCACCGATACACCACTGCTGG 0.517000 11 33 0 0 0.387290 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77331255 77331255 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:77331255G>A ENST00000282849.5 - 18 3150 c.2732C>T c.(2731-2733)tCa>tTa p.S911L NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 911 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 ACTGCAGAATGAGGAATTGAC 0.393000 68 106 0 0 0.870114 0 0 KDM2A 22992 broad.mit.edu 37 11 66999421 66999421 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:66999421C>T ENST00000529006.2 + 12 1915 c.1469C>T c.(1468-1470)gCt>gTt p.A490V KDM2A_ENST00000398645.2_Missense_Mutation_p.A490V|KDM2A_ENST00000526258.1_3'UTR NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 490 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 GCTCTCATTGCTGATGTAAAG 0.458000 146 287 0 0 0.870114 0 0 N4BP1 9683 broad.mit.edu 37 16 48595100 48595100 + Missense_Mutation SNP G G T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:48595100G>T ENST00000262384.3 - 2 1690 c.1454C>A c.(1453-1455)aCa>aAa p.T485K RP11-44I10.3_ENST00000563994.1_RNA NM_153029.3 NP_694574.3 O75113 N4BP1_HUMAN NEDD4 binding protein 1 485 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body breast(3)|kidney(2)|lung(11)|urinary_tract(1) 17 all_cancers(37;0.179)|all_lung(18;0.11) TTCAGGGTCTGTGTTACAAAT 0.418000 50 100 4.10826e-27 4.52286e-27 0.870114 1 0 SPEN 23013 broad.mit.edu 37 1 16261593 16261593 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:16261593T>C ENST00000375759.3 + 11 9062 c.8858T>C c.(8857-8859)aTt>aCt p.I2953T NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 2953 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) ACCCCAAGCATTGTCACCACA 0.597000 21 19 0 0 0.667858 0 0 CCDC178 374864 broad.mit.edu 37 18 30825388 30825388 + Missense_Mutation SNP G G A rs146565345 byFrequency TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr18:30825388G>A ENST00000383096.3 - 15 1596 c.1414C>T c.(1414-1416)Cgg>Tgg p.R472W CCDC178_ENST00000402325.1_Missense_Mutation_p.R472W|CCDC178_ENST00000403303.1_Missense_Mutation_p.R472W|CCDC178_ENST00000583930.1_Missense_Mutation_p.R472W|CCDC178_ENST00000406524.2_Missense_Mutation_p.R472W|CCDC178_ENST00000579947.1_Missense_Mutation_p.R472W|CCDC178_ENST00000300227.8_Missense_Mutation_p.R472W|CCDC178_ENST00000579916.1_Intron coiled-coil domain containing 178 GATTTTTTCCGTATGCTGTAA 0.234000 12 21 0 0 0.387290 0 0 ZIK1 284307 broad.mit.edu 37 19 58096319 58096319 + Splice_Site SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:58096319G>A ENST00000597850.1 + 2 248 c.e2-1 ZIK1_ENST00000536878.2_Intron|ZIK1_ENST00000599456.1_Intron|ZIK1_ENST00000598726.1_Intron|ZIK1_ENST00000307468.4_Intron NM_001010879.2 NP_001010879.2 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GCTTTCCACAGGTTACTGTGT 0.552000 39 82 0 0 0.870114 0 0 RASL10B 91608 broad.mit.edu 37 17 34068079 34068079 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:34068079A>G ENST00000268864.3 + 4 744 c.367A>G c.(367-369)Atc>Gtc p.I123V NM_033315.3 NP_201572.1 Q96S79 RSLAB_HUMAN RAS-like, family 10, member B 123 Small GTPase-like. small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGAGACGCCCATCATCATCGT 0.647000 25 38 0 0 0.706142 0 0 PYGO1 26108 broad.mit.edu 37 15 55841138 55841138 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr15:55841138T>C ENST00000302000.6 - 2 199 c.105A>G c.(103-105)ccA>ccG p.P35P PYGO1_ENST00000563719.1_Silent_p.P35P NM_015617.1 NP_056432.1 Q9Y3Y4 PYGO1_HUMAN pygopus family PHD finger 1 35 Wnt receptor signaling pathway nucleus zinc ion binding endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) TTTTCTTATCTGGGCTTCCTA 0.368000 48 91 0 0 0.870114 0 0 NDUFAF5 79133 broad.mit.edu 37 20 13797837 13797837 + Missense_Mutation SNP C C T rs150559783 TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr20:13797837C>T ENST00000378106.5 + 11 1138 c.1019C>T c.(1018-1020)cCg>cTg p.P340L NDUFAF5_ENST00000475968.1_3'UTR|NDUFAF5_ENST00000463598.1_Missense_Mutation_p.P312L NM_024120.4 NP_077025.2 Q5TEU4 CT007_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 340 mitochondrial respiratory chain complex I assembly extrinsic to mitochondrial inner membrane methyltransferase activity CTTATGCCACCGGGGAAAAAA 0.318000 10 285 0 0 0.411799 0 0 RORC 6097 broad.mit.edu 37 1 151789698 151789698 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:151789698G>A ENST00000356728.6 - 2 220 c.66C>T c.(64-66)taC>taT p.Y22Y RORC_ENST00000318247.6_Silent_p.Y43Y|RORC_ENST00000392697.3_Silent_p.Y97Y NM_001001523.1 NP_001001523.1 P51449 RORG_HUMAN RAR-related orphan receptor C 43 Modulating (Potential). 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 autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TGATAACCCCGTAGTGGATCC 0.532000 22 57 0 0 0.639603 0 0 OR10G7 390265 broad.mit.edu 37 11 123909474 123909474 + Missense_Mutation SNP T T A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:123909474T>A ENST00000330487.5 - 1 243 c.235A>T c.(235-237)Atg>Ttg p.M79L NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) GTCATCAGCATTTTGGGCACC 0.537000 21 298 0 0 0.681144 0 0 MYO15A 51168 broad.mit.edu 37 17 18059537 18059537 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:18059537C>T ENST00000205890.5 + 48 8826 c.8488C>T c.(8488-8490)Ccc>Tcc p.P2830S MYO15A_ENST00000418233.3_Missense_Mutation_p.P94S|MYO15A_ENST00000585180.1_Missense_Mutation_p.A92V NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 2830 Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TGTGACCATGCCCTCCCAGAA 0.562000 35 78 0 0 0.796494 0 0 ROBO2 6092 broad.mit.edu 37 3 77542422 77542422 + Missense_Mutation SNP T T A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:77542422T>A ENST00000461745.1 + 5 1595 c.695T>A c.(694-696)aTt>aAt p.I232N ROBO2_ENST00000487694.3_Missense_Mutation_p.I248N|ROBO2_ENST00000332191.8_Missense_Mutation_p.I232N NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 232 Ig-like C2-type 3. 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) AGGAGGCCAATTAACCAGGTG 0.378000 68 55 0 0 0.870114 0 0 TRIB1 10221 broad.mit.edu 37 8 126445606 126445606 + Translation_Start_Site SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:126445606G>A ENST00000520847.1 + 0 164 TRIB1_ENST00000521778.1_3'UTR|TRIB1_ENST00000311922.3_Silent_p.Q136Q Q96RU8 TRIB1_HUMAN tribbles pseudokinase 1 JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide cytoplasm|nucleus ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) CTTACATCCAGCTGCCATCGC 0.507000 10 452 0 0 0.411799 0 0 TMTC1 83857 broad.mit.edu 37 12 29920872 29920872 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:29920872T>C ENST00000256062.5 - 2 588 c.115A>G c.(115-117)Acg>Gcg p.T39A TMTC1_ENST00000551659.1_Missense_Mutation_p.T147A|TMTC1_ENST00000552618.1_Missense_Mutation_p.T147A|TMTC1_ENST00000539277.1_Missense_Mutation_p.T147A|TMTC1_ENST00000381224.2_Missense_Mutation_p.T39A NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 147 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) AGCAATGCCGTTACAAAAGCA 0.368000 39 85 0 0 0.859065 0 0 ABCG4 64137 broad.mit.edu 37 11 119025497 119025497 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:119025497G>A ENST00000307417.3 + 6 922 c.558G>A c.(556-558)acG>acA p.T186T ABCG4_ENST00000449422.2_Silent_p.T186T|ABCG4_ENST00000531739.1_Silent_p.T186T NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 186 ABC transporter. 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) AGATCCTGACGGCACTGGGCC 0.647000 46 117 0 0 0.870114 0 0 TBC1D3 729873 broad.mit.edu 37 17 36352528 36352528 + Splice_Site SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:36352528T>C ENST00000537432.1 - 4 322 c.e4-2 RP11-1407O15.2_ENST00000544906.1_Splice_Site|RP11-1407O15.2_ENST00000312412.4_Splice_Site Q8IZP1 TBC3A_HUMAN TBC1 domain family, member 3 intracellular Rab GTPase activator activity breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(7;2.97e-12) Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CACACTGACCTGGCAGACAAT 0.413000 9 183 0 0 0.361761 0 0 HEATR4 399671 broad.mit.edu 37 14 73987615 73987615 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr14:73987615G>A ENST00000553558.1 - 4 1331 c.1010C>T c.(1009-1011)cCc>cTc p.P337L HEATR4_ENST00000560393.1_Missense_Mutation_p.P290L|HEATR4_ENST00000334988.2_Missense_Mutation_p.P337L NM_001220484.1 NP_001207413.1 HEAT repeat containing 4 breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) TCCAGCTCGGGGAGTCACCTG 0.532000 83 117 0 0 0.870114 0 0 ELAC2 60528 broad.mit.edu 37 17 12905673 12905673 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:12905673C>T ENST00000338034.4 - 14 1461 c.1222G>A c.(1222-1224)Gag>Aag p.E408K ELAC2_ENST00000395962.2_Missense_Mutation_p.E389K|ELAC2_ENST00000426905.3_Missense_Mutation_p.E368K NM_018127.6|NM_173717.1 NP_060597.4|NP_776065.1 Q9BQ52 RNZ2_HUMAN elaC ribonuclease Z 2 408 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1) 23 GTGGGGCCCTCCTTCTGAAAG 0.572000 16 29 0 0 0.557998 0 0 PLSCR4 57088 broad.mit.edu 37 3 145917688 145917688 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:145917688G>A ENST00000354952.2 - 6 776 c.536C>T c.(535-537)aCt>aTt p.T179I PLSCR4_ENST00000493382.1_Missense_Mutation_p.T179I|PLSCR4_ENST00000446574.2_Missense_Mutation_p.T179I|PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000383083.2_Intron NM_020353.2 NP_065086.2 Q9NRQ2 PLS4_HUMAN phospholipid scramblase 4 179 blood coagulation|phospholipid scrambling integral to membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1) 17 CATACAATCAGTGACCCGGAG 0.493000 3 78 0 0 0.115264 0 0 BMP4 652 broad.mit.edu 37 14 54417384 54417384 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr14:54417384C>T ENST00000245451.4 - 4 986 c.593G>A c.(592-594)cGa>cAa p.R198Q BMP4_ENST00000558984.1_Missense_Mutation_p.R198Q|BMP4_ENST00000559087.1_Missense_Mutation_p.R198Q|BMP4_ENST00000417573.1_Missense_Mutation_p.R198Q NM_001202.3 NP_001193.2 P12644 BMP4_HUMAN bone morphogenetic protein 4 198 activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway extracellular space|proteinaceous extracellular matrix BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1) 19 GTCCAGTAGTCGTGTGATGAG 0.562000 40 75 0 0 0.834066 0 0 DSCAM 1826 broad.mit.edu 37 21 41416060 41416060 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr21:41416060T>C ENST00000400454.1 - 31 5805 c.5328A>G c.(5326-5328)gcA>gcG p.A1776A NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1776 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CTACTGATCCTGCAGCCCTGG 0.632000 6 119 0 0 0.278610 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232581504 232581504 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:232581504T>C ENST00000366630.1 - 10 3482 c.3124A>G c.(3124-3126)Atg>Gtg p.M1042V SIPA1L2_ENST00000262861.4_Missense_Mutation_p.M1042V|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.M116V Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 1042 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TATTCCACCATAGGGATCCGG 0.572000 6 272 0 0 0.248553 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554727 140554727 + Missense_Mutation SNP A A C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:140554727A>C ENST00000231137.3 + 1 2485 c.2311A>C c.(2311-2313)Aac>Cac p.N771H NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 771 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AATTATCCCCAACCTGCTACC 0.493000 10 69 0 0 0.608945 0 0 PEX7 5191 broad.mit.edu 37 6 137191121 137191121 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:137191121T>C ENST00000541292.1 + 7 813 c.727T>C c.(727-729)Tat>Cat p.Y243H PEX7_ENST00000318471.4_Missense_Mutation_p.Y243H O00628 PEX7_HUMAN peroxisomal biogenesis factor 7 243 ether lipid biosynthetic process|protein import into peroxisome matrix peroxisome peroxisome matrix targeting signal-2 binding lung(7)|prostate(1) 8 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492) TGGTCATACCTATGCTATTAG 0.338000 170 265 0 0 0.870114 0 0 PDCD11 22984 broad.mit.edu 37 10 105173796 105173796 + Missense_Mutation SNP G G C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:105173796G>C ENST00000369797.3 + 10 1353 c.1259G>C c.(1258-1260)aGa>aCa p.R420T NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 420 S1 motif 4. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) CACAAGTGTAGAATTATTGAC 0.453000 6 233 0 0 0.217242 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42132730 42132730 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr15:42132730T>C ENST00000382448.4 + 8 793 c.784T>C c.(784-786)Tct>Cct p.S262P JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.S31P|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.S31P|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.S262P NM_005090.3 NP_005081.1 P0C869 PA24B_HUMAN 31 PLA2c. arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2) 25 AGTGACCCCCTCTGACTGCTA 0.622000 27 55 0 0 0.706142 0 0 NPAS4 266743 broad.mit.edu 37 11 66192164 66192164 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:66192164T>C ENST00000311034.2 + 7 1979 c.1803T>C c.(1801-1803)gaT>gaC p.D601D NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 601 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 TCTCTGTGGATGTCCCCCTGG 0.582000 77 106 0 0 0.870114 0 0 KCNT2 343450 broad.mit.edu 37 1 196274362 196274362 + Splice_Site SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:196274362A>G ENST00000367433.5 - 21 2625 c.e21+1 KCNT2_ENST00000294725.8_Splice_Site|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Splice_Site|KCNT2_ENST00000498426.1_Splice_Site Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 GTGGGGTCTTACCTTTTCCAG 0.333000 41 63 0 0 0.819951 0 0 XKR4 114786 broad.mit.edu 37 8 56436132 56436132 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:56436132C>T ENST00000327381.5 + 3 1399 c.1299C>T c.(1297-1299)ttC>ttT p.F433F NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 433 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) AGATTGTGTTCGACATGGTGG 0.443000 23 419 0 0 0.639603 0 0 FAM184A 79632 broad.mit.edu 37 6 119301393 119301393 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:119301393C>T ENST00000338891.7 - 10 2654 c.2211G>A c.(2209-2211)gaG>gaA p.E737E RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Silent_p.E617E|FAM184A_ENST00000368475.4_Silent_p.E617E|FAM184A_ENST00000521531.1_Silent_p.E737E NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 737 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 GATGTTGCTCCTCTAATTCTT 0.418000 66 118 0 0 0.870114 0 0 ABL2 27 broad.mit.edu 37 1 179090956 179090956 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:179090956A>G ENST00000502732.1 - 5 937 c.734T>C c.(733-735)gTa>gCa p.V245A ABL2_ENST00000507173.1_Missense_Mutation_p.V224A|ABL2_ENST00000511413.1_Missense_Mutation_p.V245A|ABL2_ENST00000344730.3_Missense_Mutation_p.V230A|ABL2_ENST00000504405.1_Missense_Mutation_p.V209A|ABL2_ENST00000367623.4_Missense_Mutation_p.V224A|ABL2_ENST00000392043.3_Missense_Mutation_p.V224A|ABL2_ENST00000512653.1_Missense_Mutation_p.V230A|ABL2_ENST00000408940.3_Missense_Mutation_p.V209A NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 245 SH2. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) GTGATGGTGTACAAGCTCTGC 0.463000 T ETV6 AML 20 41 0 0 0.639603 0 0 TMEM38B 55151 broad.mit.edu 37 9 108536277 108536277 + Silent SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr9:108536277C>A ENST00000374688.1 + 6 1340 c.630C>A c.(628-630)tcC>tcA p.S210S TMEM38B_ENST00000374692.3_Silent_p.S264S Q9NVV0 TM38B_HUMAN transmembrane protein 38B 264 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity p.S264S(1) kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 AGTCACCTTCCAATGGCGTTG 0.408000 66 49 6.26901e-30 6.94719e-30 0.870114 1 0 FAM83C 128876 broad.mit.edu 37 20 33875605 33875605 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr20:33875605G>A ENST00000374408.3 - 4 1073 c.977C>T c.(976-978)cCt>cTt p.P326L NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 326 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) TAGGGCCACAGGGGGAGGACG 0.657000 5 5 0 0 0.217242 0 0 KLHL7 55975 broad.mit.edu 37 7 23191797 23191797 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:23191797A>G ENST00000322231.7 + 8 1329 c.839A>G c.(838-840)cAa>cGa p.Q280R KLHL7_ENST00000545443.1_Missense_Mutation_p.Q280R|KLHL7_ENST00000409689.1_Missense_Mutation_p.Q254R|KLHL7_ENST00000542558.1_Missense_Mutation_p.Q77R|KLHL7_ENST00000539124.1_Missense_Mutation_p.Q226R|KLHL7_ENST00000339077.4_Missense_Mutation_p.Q302R Q8IXQ5 KLHL7_HUMAN kelch-like family member 7 302 Golgi apparatus|nucleolus|plasma membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GGAGGCTCTCAACCACAGTCT 0.393000 51 130 0 0 0.870114 0 0 C1orf122 127687 broad.mit.edu 37 1 38274716 38274716 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:38274716G>A ENST00000373043.1 + 2 1821 c.115G>A c.(115-117)Gat>Aat p.D39N C1orf122_ENST00000468084.1_Missense_Mutation_p.D39N|C1orf122_ENST00000525096.2_Intron|C1orf122_ENST00000446260.2_Silent_p.R130R|C1orf122_ENST00000373042.4_Missense_Mutation_p.D102N Q6ZSJ8 CA122_HUMAN chromosome 1 open reading frame 122 102 kidney(2)|lung(2) 4 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0393) CTTTCCAAAGGATGCTGGCGA 0.612000 41 39 0 0 0.870114 0 0 BZRAP1 9256 broad.mit.edu 37 17 56388049 56388049 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:56388049C>A ENST00000355701.3 - 20 4393 c.3523G>T c.(3523-3525)Ggt>Tgt p.G1175C BZRAP1_ENST00000343736.4_Missense_Mutation_p.G1175C|BZRAP1_ENST00000268893.6_Missense_Mutation_p.G1115C NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1175 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCCTTCTCACCCAGGGTAGAT 0.667000 7 24 0.27861 0.279609 0.278610 1 0 NR1H4 9971 broad.mit.edu 37 12 100957204 100957204 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:100957204G>A ENST00000548884.1 + 11 1897 c.1356G>A c.(1354-1356)atG>atA p.M452I NR1H4_ENST00000392986.3_Missense_Mutation_p.M456I|NR1H4_ENST00000188403.7_Missense_Mutation_p.M462I|NR1H4_ENST00000549996.1_Missense_Mutation_p.M405I|NR1H4_ENST00000551379.1_Missense_Mutation_p.M466I NM_001206977.1|NM_001206979.1|NM_005123.3 NP_001193906.1|NP_001193908.1|NP_005114.1 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 466 Ligand-binding. bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 44 AGATGCTGATGTCATGGAGAG 0.493000 104 184 0 0 0.870114 0 0 DHRS4 10901 broad.mit.edu 37 14 24424296 24424296 + Missense_Mutation SNP G G A rs141661758 TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr14:24424296G>A ENST00000313250.5 + 2 384 c.181G>A c.(181-183)Gtc>Atc p.V61I DHRS4_ENST00000558581.1_Missense_Mutation_p.V61I|DHRS4_ENST00000558263.1_Missense_Mutation_p.V61I|DHRS4_ENST00000397073.2_Missense_Mutation_p.V43I|DHRS4_ENST00000543741.2_Missense_Mutation_p.V61I|DHRS4_ENST00000421831.1_Missense_Mutation_p.V43I|DHRS4_ENST00000397074.3_Missense_Mutation_p.V61I|DHRS4_ENST00000397075.3_Missense_Mutation_p.V61I|DHRS4_ENST00000382761.3_Missense_Mutation_p.V43I|DHRS4_ENST00000308178.8_Missense_Mutation_p.V43I|DHRS4_ENST00000559632.1_Missense_Mutation_p.V61I NM_021004.2 NP_066284.2 Q9BTZ2 DHRS4_HUMAN dehydrogenase/reductase (SDR family) member 4 61 mitochondrion|nuclear membrane|peroxisome binding|carbonyl reductase (NADPH) activity central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00962) Vitamin A(DB00162) CCATGTGGTCGTCAGCAGCCG 0.657000 48 26 0 0 0.870114 0 0 MORC1 27136 broad.mit.edu 37 3 108836867 108836867 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:108836867G>A ENST00000232603.5 - 1 122 c.40C>T c.(40-42)Cgt>Tgt p.R14C MORC1_ENST00000483760.1_Missense_Mutation_p.R14C NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 14 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 AAATCCAGACGCAGCTGGGCC 0.657000 3 10 0 0 0.150653 0 0 TMPRSS4 56649 broad.mit.edu 37 11 117984053 117984053 + Silent SNP G G T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:117984053G>T ENST00000534111.1 + 9 1072 c.807G>T c.(805-807)ctG>ctT p.L269L TMPRSS4_ENST00000522307.1_Silent_p.L124L|TMPRSS4_ENST00000523251.1_Silent_p.L231L|TMPRSS4_ENST00000518413.2_3'UTR|TMPRSS4_ENST00000437212.3_Silent_p.L271L|TMPRSS4_ENST00000522824.1_Silent_p.L266L NM_001083947.1|NM_001173551.1|NM_019894.3 NP_001077416.1|NP_001167022.1|NP_063947.1 Q9NRS4 TMPS4_HUMAN transmembrane protease, serine 4 271 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) TCCCATCCCTGGCTGTGGCCA 0.537000 6 181 0.00116845 0.00119258 0.217242 1 0 CES5A 221223 broad.mit.edu 37 16 55886920 55886920 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:55886920C>T ENST00000521992.1 - 11 1378 c.1233G>A c.(1231-1233)ttG>ttA p.L411L CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000290567.9_Silent_p.L382L|CES5A_ENST00000319165.9_Silent_p.L382L|CES5A_ENST00000520435.1_Silent_p.L352L|CES5A_ENST00000518005.1_Silent_p.L276L NM_001190158.1 NP_001177087.1 Q6NT32 EST5A_HUMAN carboxylesterase 5A 382 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 CCACAAGGTGCAAATACTGAG 0.473000 5 124 0 0 0.248553 0 0 INPP4B 8821 broad.mit.edu 37 4 143007357 143007357 + Silent SNP G G T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr4:143007357G>T ENST00000513000.1 - 25 2860 c.2427C>A c.(2425-2427)ctC>ctA p.L809L INPP4B_ENST00000508116.1_Silent_p.L809L|INPP4B_ENST00000262992.4_Silent_p.L809L|INPP4B_ENST00000308502.4_Silent_p.L809L|INPP4B_ENST00000509777.1_Silent_p.L809L NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa 809 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) TATTTTGAAGGAGATTTTCTA 0.338000 18 37 2.4624e-09 2.58875e-09 0.575678 1 0 CSMD1 64478 broad.mit.edu 37 8 3855604 3855604 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:3855604G>A ENST00000602557.1 - 5 1194 c.639C>T c.(637-639)cgC>cgT p.R213R CSMD1_ENST00000520002.1_Silent_p.R213R|CSMD1_ENST00000539096.1_Silent_p.R213R|CSMD1_ENST00000542608.1_Silent_p.R213R|CSMD1_ENST00000602723.1_Silent_p.R213R|CSMD1_ENST00000537824.1_Silent_p.R213R|CSMD1_ENST00000400186.3_Silent_p.R213R Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 213 CUB 2. integral to membrane p.R213R(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGCTGGTCCCGCGTAAGGTTC 0.567000 4 10 0 0 0.150653 0 0 MSRB3 253827 broad.mit.edu 37 12 65857074 65857074 + Missense_Mutation SNP C C T rs144038296 byFrequency TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:65857074C>T ENST00000308259.5 + 7 804 c.530C>T c.(529-531)cCg>cTg p.P177L MSRB3_ENST00000355192.3_Missense_Mutation_p.P184L|MSRB3_ENST00000535664.1_Missense_Mutation_p.P177L NM_001031679.2|NM_001193460.1 NP_001026849.1|NP_001180389.1 Q8IXL7 MSRB3_HUMAN methionine sulfoxide reductase B3 184 protein repair endoplasmic reticulum|mitochondrion peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1) 13 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.131) GTCGCCAGCCCGGCCCAGGCA 0.483000 5 94 0 0 0.184627 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86542277 86542277 + Missense_Mutation SNP G G T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:86542277G>T ENST00000450689.2 - 14 2160 c.1975C>A c.(1975-1977)Cct>Act p.P659T KIAA1324L_ENST00000444627.1_Silent_p.G612G|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.P419T|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.P492T NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 659 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) TTACTCCCAGGCCCGCATGGA 0.438000 29 56 3.99451e-17 4.30178e-17 0.740014 1 0 SSH3 54961 broad.mit.edu 37 11 67075160 67075160 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:67075160C>T ENST00000308127.4 + 7 921 c.743C>T c.(742-744)gCt>gTt p.A248V SSH3_ENST00000532181.1_Intron|SSH3_ENST00000308298.7_Missense_Mutation_p.A248V|SSH3_ENST00000376757.5_Missense_Mutation_p.A248V NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 248 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GAGTGGACGGCTATGGCCGAC 0.652000 13 28 0 0 0.639603 0 0 GP2 2813 broad.mit.edu 37 16 20327330 20327330 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:20327330T>C ENST00000302555.5 - 9 1598 c.1449A>G c.(1447-1449)gtA>gtG p.V483V GP2_ENST00000381360.5_Silent_p.V339V|GP2_ENST00000381362.4_Silent_p.V486V|GP2_ENST00000341642.5_Silent_p.V336V P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 486 ZP. anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 CGATGGCCGGTACTTCACTGC 0.478000 7 121 0 0 0.248553 0 0 IQCK 124152 broad.mit.edu 37 16 19775436 19775436 + Splice_Site SNP T T G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:19775436T>G ENST00000320394.6 + 7 1304 c.e7+2 IQCK_ENST00000541926.1_Splice_Site|CTD-2380F24.1_ENST00000565817.1_RNA|CTD-2380F24.1_ENST00000564490.1_RNA|IQCK_ENST00000433597.2_Splice_Site|IQCK_ENST00000564186.1_Splice_Site|CTD-2380F24.1_ENST00000568843.1_RNA|IQCK_ENST00000562762.1_Splice_Site NM_153208.1 NP_694940.1 Q8N0W5 IQCK_HUMAN IQ motif containing K kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 AAAGCAACAGTGAGTATGACA 0.388000 14 33 0 0 0.457914 0 0 SLC6A10P 386757 broad.mit.edu 37 16 32893939 32893939 + RNA SNP C C A rs141032430 by1000genomes TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:32893939C>A ENST00000330048.5 - 0 1318 NR_003083.2 GTCTTCATGGCGGAAGATCTC 0.597000 7 224 8.16721e-17 8.78419e-17 0.750413 1 0 LNX2 222484 broad.mit.edu 37 13 28155884 28155884 + Translation_Start_Site SNP C C T rs112460239 TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr13:28155884C>T ENST00000316334.3 - 0 86 NM_153371.3 NP_699202.1 Q8N448 LNX2_HUMAN ligand of numb-protein X 2 zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 31 Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248) TTCCACTTCACGCTTGGTTTC 0.368000 28 59 0 0 0.681144 0 0 RMND5B 64777 broad.mit.edu 37 5 177575020 177575020 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:177575020G>A ENST00000515098.1 + 12 1520 c.1169G>A c.(1168-1170)cGc>cAc p.R390H RMND5B_ENST00000313386.4_Missense_Mutation_p.R390H|RMND5B_ENST00000542098.1_Missense_Mutation_p.R377H Q96G75 RMD5B_HUMAN required for meiotic nuclear division 5 homolog B (S. cerevisiae) 390 p.R390H(1) endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 17 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GATGGGAAACGCATCATATTC 0.532000 48 91 0 0 0.870114 0 0 FAM35A 54537 broad.mit.edu 37 10 88911131 88911131 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:88911131T>C ENST00000298786.4 + 3 134 c.20T>C c.(19-21)gTc>gCc p.V7A FAM35A_ENST00000298784.1_Missense_Mutation_p.V7A Q86V20 FA35A_HUMAN family with sequence similarity 35, member A 7 endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2) 16 GGATCTCAAGTCCACATTTTT 0.338000 37 69 0 0 0.812448 0 0 JADE3 9767 broad.mit.edu 37 X 46913820 46913820 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chrX:46913820A>G ENST00000218343.4 + 9 1531 c.1233A>G c.(1231-1233)gtA>gtG p.V411V PHF16_ENST00000397189.1_Silent_p.V411V NM_014735.3 NP_055550.1 Q92613 JADE3_HUMAN 411 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2) 33 ATTCCTTGGTACGAGTGGAAG 0.522000 30 14 0 0 0.804634 0 0 CRYM 1428 broad.mit.edu 37 16 21272583 21272583 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:21272583T>C ENST00000219599.3 - 9 1137 c.872A>G c.(871-873)aAg>aGg p.K291R CRYM_ENST00000415987.2_Missense_Mutation_p.K249R|CRYM_ENST00000543948.1_Missense_Mutation_p.K291R|CRYM_ENST00000396023.2_Missense_Mutation_p.K291R NM_001888.3 NP_001879.1 Q14894 CRYM_HUMAN crystallin, mu 291 negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport cytoplasm|nucleus|plasma membrane NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity large_intestine(1)|lung(3) 4 GBM - Glioblastoma multiforme(48;0.0573) Levothyroxine(DB00451) ACCCAAAGACTTGAACACGGT 0.512000 36 62 0 0 0.827153 0 0 XPOT 11260 broad.mit.edu 37 12 64812734 64812734 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:64812734T>C ENST00000332707.5 + 6 878 c.349T>C c.(349-351)Tat>Cat p.Y117H NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 117 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) TGTTACAGAGTATCTCACTAA 0.438000 4 179 0 0 0.184627 0 0 CPEB4 80315 broad.mit.edu 37 5 173370038 173370038 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:173370038A>G ENST00000265085.5 + 4 2722 c.1268A>G c.(1267-1269)tAt>tGt p.Y423C CPEB4_ENST00000520867.1_Intron|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000522336.1_Intron|CPEB4_ENST00000334035.5_Missense_Mutation_p.Y406C|CPEB4_ENST00000519835.1_Intron|CPEB4_ENST00000517880.1_Intron NM_030627.2 NP_085130.2 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding protein 4 423 nucleotide binding|RNA binding NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 20 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GCAAGGACATATGGGCGAAGG 0.348000 99 191 0 0 0.870114 0 0 RNF43 54894 broad.mit.edu 37 17 56492887 56492887 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:56492887T>C ENST00000584437.1 - 1 2007 c.52A>G c.(52-54)Atg>Gtg p.M18V RNF43_ENST00000500597.2_Missense_Mutation_p.M18V|RNF43_ENST00000407977.2_Missense_Mutation_p.M18V|RNF43_ENST00000577716.1_Missense_Mutation_p.M18V|RNF43_ENST00000583753.1_Missense_Mutation_p.M18V|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Intron Q68DV7 RNF43_HUMAN ring finger protein 43 18 endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGGGTAGCCATCAGCAGCCAG 0.557000 5 22 0 0 0.639603 0 0 THTPA 79178 broad.mit.edu 37 14 24026241 24026241 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr14:24026241T>C ENST00000288014.6 + 1 1011 c.275T>C c.(274-276)cTc>cCc p.L92P THTPA_ENST00000556015.1_Missense_Mutation_p.L92P|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000404535.3_Missense_Mutation_p.L92P|RP11-66N24.4_ENST00000553985.1_RNA|THTPA_ENST00000554789.1_Missense_Mutation_p.L92P|THTPA_ENST00000554970.1_Missense_Mutation_p.L92P Q9BU02 THTPA_HUMAN thiamine triphosphatase 92 dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process cytosol|nucleolus|soluble fraction thiamin-triphosphatase activity large_intestine(1)|prostate(2) 3 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00643) Thiamine(DB00152) GTGGCCCAACTCTGTAAGGTG 0.577000 28 74 0 0 0.750413 0 0 CUBN 8029 broad.mit.edu 37 10 17164806 17164806 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:17164806A>G ENST00000377833.4 - 6 646 c.581T>C c.(580-582)aTg>aCg p.M194T NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 194 EGF-like 2; calcium-binding (Potential). cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GTAACTTCCCATTGTATTAAC 0.368000 7 106 0 0 0.307466 0 0 SPTBN4 57731 broad.mit.edu 37 19 41029412 41029412 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:41029412C>T ENST00000352632.3 + 17 3809 c.3723C>T c.(3721-3723)caC>caT p.H1241H SPTBN4_ENST00000595535.1_Silent_p.H1241H|SPTBN4_ENST00000344104.3_Silent_p.H1241H|SPTBN4_ENST00000338932.3_Silent_p.H1241H|SPTBN4_ENST00000598249.1_Silent_p.H1241H Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 1241 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) TGAAACAGCACCGTGACTTTC 0.632000 19 31 0 0 0.557998 0 0 TRGV2 6974 broad.mit.edu 37 7 38402604 38402604 + RNA SNP T T G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:38402604T>G ENST00000426402.2 - 0 404 AACCTTGGAGTTGTAGGAGTC 0.458000 19 122 0 0 0.740014 0 0 SLC26A7 115111 broad.mit.edu 37 8 92378916 92378916 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:92378916T>C ENST00000276609.3 + 14 1836 c.1597T>C c.(1597-1599)Tgt>Cgt p.C533R SLC26A7_ENST00000523719.1_Missense_Mutation_p.C533R|SLC26A7_ENST00000309536.2_Missense_Mutation_p.C533R|SLC26A7_ENST00000520249.1_3'UTR NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 533 STAS. basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) GGAAAATGCCTGTAATCAGCC 0.333000 97 191 0 0 0.870114 0 0 SPRR3 6707 broad.mit.edu 37 1 152975911 152975911 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:152975911A>G ENST00000331860.3 + 3 565 c.415A>G c.(415-417)Acc>Gcc p.T139A SPRR3_ENST00000542696.1_Missense_Mutation_p.T131A|SPRR3_ENST00000295367.4_Missense_Mutation_p.T139A NM_005416.2 NP_005407.1 Q9UBC9 SPRR3_HUMAN small proline-rich protein 3 139 14 X 8 AA approximate tandem repeats. keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 11 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCAAGGATACACCAAAGTTCC 0.527000 16 37 0 0 0.479597 0 0 HECW2 57520 broad.mit.edu 37 2 197157345 197157345 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:197157345T>C ENST00000260983.2 - 14 3126 c.2944A>G c.(2944-2946)Aac>Gac p.N982D HECW2_ENST00000409111.1_Missense_Mutation_p.N626D NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 982 Interaction with TP73. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 AGCTGTTTGTTCGCGAACATG 0.542000 43 115 0 0 0.840704 0 0 TMOD4 29765 broad.mit.edu 37 1 151147019 151147019 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:151147019A>G ENST00000416280.2 - 3 227 c.128T>C c.(127-129)aTg>aCg p.M43T Q9NZQ9 TMOD4_HUMAN tropomodulin 4 (muscle) 84 muscle contraction cytoplasm|cytoskeleton actin binding|tropomyosin binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 7 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TGGCAGGAGCATGTTCTTAGG 0.562000 112 195 0 0 0.870114 0 0 FLAD1 80308 broad.mit.edu 37 1 154965266 154965266 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:154965266A>G ENST00000368432.1 + 7 1518 c.1341A>G c.(1339-1341)taA>taG p.*447* FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000292180.3_Intron|FLAD1_ENST00000368428.1_Intron|FLAD1_ENST00000315144.10_Intron NM_001184891.1 NP_001171820.1 Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase 1 0 FAD synthase. FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) ACCGAGGGTAAGGGTATTAGG 0.522000 57 143 0 0 0.870114 0 0 SMARCC1 6599 broad.mit.edu 37 3 47677513 47677513 + Splice_Site SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:47677513T>C ENST00000254480.5 - 23 2609 c.2491_splice c.e23+1 p.S830_splice 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 1 830 Glu-rich. 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) TCAAATTACCTGATTTGGTAT 0.323000 40 123 0 0 0.827153 0 0 EP300 2033 broad.mit.edu 37 22 41574312 41574312 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr22:41574312A>G ENST00000263253.7 + 31 7816 c.6597A>G c.(6595-6597)ccA>ccG p.P2199P RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 2199 Interaction with HTLV-1 Tax.|Interaction with NCOA2. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 GAGCAGGGCCAGGAATAGGCC 0.537000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 22 17 0 0 0.592651 0 0 KRT2 3849 broad.mit.edu 37 12 53045390 53045390 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:53045390A>G ENST00000309680.3 - 1 558 c.537T>C c.(535-537)cgT>cgC p.R179R NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 179 Coil 1A.|Rod. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) TGATCTGCTCACGCTCTTGGG 0.522000 16 200 0 0 0.575678 0 0 LINC00886 730091 broad.mit.edu 37 3 156528100 156528100 + RNA SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:156528100T>C ENST00000472943.1 - 0 148 NR_038387.1 CTTAATAACATCTGCCTTCCT 0.483000 112 36 0 0 0.870114 0 0 SEPP1 6414 broad.mit.edu 37 5 42801175 42801175 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:42801175C>T ENST00000514985.1 - 5 1049 c.793G>A c.(793-795)Gca>Aca p.A265T CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000506577.1_Missense_Mutation_p.A265T|SEPP1_ENST00000511224.1_Missense_Mutation_p.A265T|SEPP1_ENST00000507920.1_Silent_p.Q154Q NM_005410.2 NP_005401.3 P49908 SEPP1_HUMAN selenoprotein P, plasma, 1 265 response to oxidative stress extracellular region selenium binding kidney(10)|large_intestine(1)|lung(4) 15 TCTTCACTTGCTGGCATATCT 0.453000 30 67 0 0 0.717897 0 0 SERPINB13 5275 broad.mit.edu 37 18 61256926 61256926 + Missense_Mutation SNP A A T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr18:61256926A>T ENST00000344731.5 + 3 304 c.202A>T c.(202-204)Ata>Tta p.I68L SERPINB13_ENST00000269489.5_Missense_Mutation_p.I68L NM_012397.3 NP_036529.1 Q9UIV8 SPB13_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 13 68 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 GAGCTCAAGAATAAAGGCTGA 0.403000 5 51 0 0 0.248553 0 0 GPR156 165829 broad.mit.edu 37 3 119885981 119885981 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:119885981A>G ENST00000464295.1 - 10 2788 c.2343T>C c.(2341-2343)acT>acC p.T781T GPR156_ENST00000461057.1_Silent_p.T777T|GPR156_ENST00000315843.3_Silent_p.T781T Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 781 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) GCTCAGGGTCAGTGTCTGATG 0.557000 6 313 0 0 0.307466 0 0 KRT16P2 400578 broad.mit.edu 37 17 16734765 16734765 + RNA SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:16734765C>T ENST00000579062.1 - 0 550 CTCCTTCAGGCCTTCCATCTG 0.632000 22 49 0 0 0.693898 0 0 IFNA7 3444 broad.mit.edu 37 9 21201943 21201943 + Silent SNP A A T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr9:21201943A>T ENST00000239347.3 - 1 261 c.222T>A c.(220-222)acT>acA p.T74T NM_021057.2 NP_066401.2 P01567 IFNA7_HUMAN interferon, alpha 7 74 blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6) 12 GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) AGATGGCTTGAGTCTTCTGGA 0.483000 90 67 0 0 0.870114 0 0 DCHS1 8642 broad.mit.edu 37 11 6646021 6646021 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:6646021C>A ENST00000299441.3 - 20 7636 c.7225G>T c.(7225-7227)Ggt>Tgt p.G2409C NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 2409 Cadherin 23. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAATGTGACCGTTGGCACCT 0.562000 10 20 0.0809354 0.0816155 0.387290 1 0 UPRT 139596 broad.mit.edu 37 X 74520734 74520734 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chrX:74520734G>A ENST00000373379.1 + 6 922 c.757G>A c.(757-759)Gtt>Att p.V253I UPRT_ENST00000530743.1_Missense_Mutation_p.V117I|UPRT_ENST00000373383.4_Missense_Mutation_p.V253I Q96BW1 UPP_HUMAN uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) 253 nucleoside metabolic process cytoplasm|nucleus breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4) 18 AGCTGTAAAGGTTCTTATAGA 0.373000 20 96 0 0 0.624587 0 0 NFASC 23114 broad.mit.edu 37 1 204948496 204948496 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:204948496T>C ENST00000367172.4 + 19 2313 c.1985T>C c.(1984-1986)gTc>gCc p.V662A NFASC_ENST00000338515.6_Missense_Mutation_p.V662A|NFASC_ENST00000404076.1_Missense_Mutation_p.V641A|NFASC_ENST00000367169.4_Missense_Mutation_p.V662A|NFASC_ENST00000513543.1_Missense_Mutation_p.V658A|NFASC_ENST00000338586.6_Missense_Mutation_p.V662A|NFASC_ENST00000401399.1_Missense_Mutation_p.V662A|NFASC_ENST00000360049.4_Missense_Mutation_p.V658A|NFASC_ENST00000339876.6_Missense_Mutation_p.V662A|NFASC_ENST00000367171.4_Missense_Mutation_p.V647A|NFASC_ENST00000404907.1_Missense_Mutation_p.V658A|NFASC_ENST00000539706.1_Missense_Mutation_p.V658A|NFASC_ENST00000367170.4_Missense_Mutation_p.V662A O94856 NFASC_HUMAN neurofascin 662 Fibronectin type-III 1. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TCAGACTACGTCGTCCAGTTT 0.512000 66 121 0 0 0.870114 0 0 DET1 55070 broad.mit.edu 37 15 89056277 89056277 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr15:89056277A>G ENST00000564406.1 - 6 1751 c.1591T>C c.(1591-1593)Ttc>Ctc p.F531L DET1_ENST00000268148.8_Missense_Mutation_p.F520L|DET1_ENST00000444300.1_Missense_Mutation_p.F531L NM_017996.3 NP_060466.2 Q7L5Y6 DET1_HUMAN de-etiolated homolog 1 (Arabidopsis) 520 nucleus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) TGAAAGGTGAAGGCAACAAGG 0.532000 22 63 0 0 0.608945 0 0 OR10G7 390265 broad.mit.edu 37 11 123909514 123909514 + Silent SNP G G C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:123909514G>C ENST00000330487.5 - 1 203 c.195C>G c.(193-195)tcC>tcG p.S65S NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TGTCAATGAAGGACAGGTTGG 0.552000 6 205 0 0 0.217242 0 0 QSER1 79832 broad.mit.edu 37 11 32975569 32975569 + Missense_Mutation SNP A A C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:32975569A>C ENST00000399302.2 + 5 4292 c.3957A>C c.(3955-3957)gaA>gaC p.E1319D QSER1_ENST00000527788.1_Missense_Mutation_p.E1080D NM_001076786.1 NP_001070254.1 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 1319 breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) AGCCCATTGAACTTGATGGTC 0.448000 33 63 0 0 0.788014 0 0 FAM198B 51313 broad.mit.edu 37 4 159092386 159092386 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr4:159092386A>G ENST00000296530.8 - 2 763 c.142T>C c.(142-144)Ttg>Ctg p.L48L FAM198B_ENST00000592057.1_Silent_p.L48L|FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000393807.5_Silent_p.L48L|FAM198B_ENST00000585682.1_Silent_p.L48L|RP11-597D13.9_ENST00000503611.1_RNA NM_016613.6 NP_057697.2 Q6UWH4 F198B_HUMAN family with sequence similarity 198, member B 48 Golgi membrane|integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1) 26 AGGAAGCCCAAGTAGATGGCA 0.662000 32 22 0 0 0.750413 0 0 ZMYM3 9203 broad.mit.edu 37 X 70465236 70465236 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chrX:70465236T>C ENST00000373998.1 - 18 3621 c.2924A>G c.(2923-2925)aAt>aGt p.N975S ZMYM3_ENST00000353904.2_Missense_Mutation_p.N987S|ZMYM3_ENST00000373984.3_Missense_Mutation_p.N989S|ZMYM3_ENST00000373988.1_Missense_Mutation_p.N989S|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.N987S NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 987 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) ATCCAAGACATTGGCCATCTT 0.532000 26 23 0 0 0.788014 0 0 FAM135A 57579 broad.mit.edu 37 6 71162230 71162230 + Nonsense_Mutation SNP C C G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:71162230C>G ENST00000418814.2 + 5 727 c.113C>G c.(112-114)tCa>tGa p.S38* FAM135A_ENST00000505769.1_Nonsense_Mutation_p.S38*|FAM135A_ENST00000505868.1_Nonsense_Mutation_p.S38*|FAM135A_ENST00000361499.3_Nonsense_Mutation_p.S38*|FAM135A_ENST00000370479.3_Intron|FAM135A_ENST00000457062.2_Intron NM_001105531.2|NM_001162529.1 NP_001099001.1|NP_001156001.1 Q9P2D6 F135A_HUMAN family with sequence similarity 135, member A 38 breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 AAAATTCCATCAAGAATTCCC 0.318000 42 91 0 0 0.870114 0 0 PRDM10 56980 broad.mit.edu 37 11 129794867 129794867 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:129794867A>G ENST00000358825.5 - 13 2031 c.1800T>C c.(1798-1800)ctT>ctC p.L600L PRDM10_ENST00000423662.2_Silent_p.L514L|PRDM10_ENST00000304538.6_Silent_p.L510L|PRDM10_ENST00000526082.1_Silent_p.L514L|PRDM10_ENST00000528746.1_Silent_p.L570L|PRDM10_ENST00000360871.3_Silent_p.L596L NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 600 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) TCAACAAATCAAGGCGGTCAA 0.458000 5 247 0 0 0.184627 0 0 KIAA1755 85449 broad.mit.edu 37 20 36869844 36869844 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr20:36869844G>A ENST00000279024.4 - 3 960 c.689C>T c.(688-690)gCc>gTc p.A230V NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 230 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) CAAACTCTGGGCAGGAAGCAC 0.592000 32 72 0 0 0.769981 0 0 XYLT1 64131 broad.mit.edu 37 16 17294474 17294474 + Silent SNP G G A rs145318002 TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:17294474G>A ENST00000261381.6 - 4 1035 c.951C>T c.(949-951)tcC>tcT p.S317S NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 317 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TGTACTCCACGGAGTCCTCGT 0.577000 80 155 0 0 0.870114 0 0 MED1 5469 broad.mit.edu 37 17 37565271 37565271 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:37565271G>A ENST00000300651.6 - 17 3426 c.3203C>T c.(3202-3204)cCt>cTt p.P1068L MED1_ENST00000394287.3_Intron NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 1068 androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) TGTTCCCTTAGGAATCTGAAT 0.512000 HNSCC(31;0.082) 75 167 0 0 0.870114 0 0 TRPM2 7226 broad.mit.edu 37 21 45819196 45819196 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr21:45819196T>C ENST00000397928.1 + 14 2525 c.2080T>C c.(2080-2082)Tac>Cac p.Y694H TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.Y694H|TRPM2_ENST00000397932.2_Missense_Mutation_p.Y694H|TRPM2_ENST00000300481.9_Missense_Mutation_p.Y674H NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 694 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CACCGAGTGCTACCGGAAGGA 0.642000 3 89 0 0 0.150653 0 0 PCDHB18P 54660 broad.mit.edu 37 5 140615829 140615829 + RNA SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:140615829G>A ENST00000526308.1 + 0 1892 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 CTGCAGAACGGCTCGGCGCCC 0.716000 30 11 0 0 0.812448 0 0 NAMPT 10135 broad.mit.edu 37 7 105904030 105904030 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:105904030T>C ENST00000222553.3 - 7 1084 c.777A>G c.(775-777)aaA>aaG p.K259K NAMPT_ENST00000354289.4_Silent_p.K259K NM_005746.2 NP_005737.1 P43490 NAMPT_HUMAN nicotinamide phosphoribosyltransferase 259 cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process cytosol cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 14 CAAAAGCATCTTTTTCATGGT 0.373000 5 278 0 0 0.248553 0 0 SLC5A11 115584 broad.mit.edu 37 16 24920260 24920260 + Missense_Mutation SNP A A T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:24920260A>T ENST00000347898.3 + 14 2115 c.1493A>T c.(1492-1494)gAc>gTc p.D498V SLC5A11_ENST00000567758.1_Missense_Mutation_p.D463V|SLC5A11_ENST00000539472.1_Missense_Mutation_p.D434V|SLC5A11_ENST00000568579.1_Missense_Mutation_p.D428V|SLC5A11_ENST00000545376.1_Missense_Mutation_p.D428V|SLC5A11_ENST00000449109.2_Missense_Mutation_p.D342V|SLC5A11_ENST00000565769.1_Missense_Mutation_p.D434V|SLC5A11_ENST00000424767.2_Missense_Mutation_p.D463V|SLC5A11_ENST00000569071.1_Missense_Mutation_p.D342V NM_052944.3 NP_443176.2 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 498 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) CTGGTCCTGGACTTTATTTAC 0.567000 33 37 0 0 0.804634 0 0 CPA1 1357 broad.mit.edu 37 7 130024430 130024430 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:130024430C>T ENST00000011292.3 + 7 900 c.750C>T c.(748-750)ggC>ggT p.G250G CPA1_ENST00000484324.1_Silent_p.G162G NM_001868.2 NP_001859.1 P15085 CBPA1_HUMAN carboxypeptidase A1 (pancreatic) 250 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) TCTGTATTGGCGTGGACCCCA 0.597000 34 70 0 0 0.788014 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50461598 50461598 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:50461598G>A ENST00000447370.2 - 8 1683 c.1593C>T c.(1591-1593)cgC>cgT p.R531R SIGLEC11_ENST00000426971.2_Intron|CTC-326K19.6_ENST00000451973.1_Silent_p.R17R NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 531 cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) AGGCCTTACAGCGGAGCCTGA 0.667000 22 43 0 0 0.624587 0 0 BAG1 573 broad.mit.edu 37 9 33264251 33264251 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr9:33264251G>A ENST00000472232.3 - 1 508 c.422C>T c.(421-423)gCa>gTa p.A141V BAG1_ENST00000379704.2_Missense_Mutation_p.A26V NM_001172415.1|NM_004323.5 NP_001165886.1|NP_004314.5 Q99933 BAG1_HUMAN BCL2-associated athanogene 141 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding cytoplasm|intermediate filament cytoskeleton|nucleus protein binding|receptor signaling protein activity endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 8 LUSC - Lung squamous cell carcinoma(29;0.00506) GAGCCCAGCTGCCGCCATTTC 0.667000 10 13 0 0 0.387290 0 0 DIS3L2 129563 broad.mit.edu 37 2 233195446 233195446 + Missense_Mutation SNP G G T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:233195446G>T ENST00000325385.7 + 16 2246 c.1970G>T c.(1969-1971)cGc>cTc p.R657L DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000409307.1_Missense_Mutation_p.R657L NM_152383.4 NP_689596.4 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 2 657 exonuclease activity|ribonuclease activity|RNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1) 40 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) TCACTGGCCCGCAAGGAGGTG 0.592000 80 155 5.00163e-47 5.61681e-47 0.870114 1 0 ADAD2 161931 broad.mit.edu 37 16 84230327 84230327 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:84230327T>C ENST00000268624.3 + 10 1940 c.1847T>C c.(1846-1848)gTg>gCg p.V616A RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.V534A NM_139174.3 NP_631913.3 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 534 RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1) 13 GCCAGGGCTGTGGGGAAGCCC 0.667000 12 94 0 0 0.435327 0 0 TDRD6 221400 broad.mit.edu 37 6 46656745 46656745 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:46656745G>A ENST00000544460.1 + 1 1134 c.880G>A c.(880-882)Ggg>Agg p.G294R TDRD6_ENST00000316081.6_Missense_Mutation_p.G294R NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 294 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) CACGGGGACAGGGGATGAGAA 0.632000 10 25 0 0 0.411799 0 0 SPNS2 124976 broad.mit.edu 37 17 4434362 4434362 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:4434362T>C ENST00000329078.3 + 5 950 c.740T>C c.(739-741)aTt>aCt p.I247T NM_001124758.1 NP_001118230.1 Q8IVW8 SPNS2_HUMAN spinster homolog 2 (Drosophila) 247 lipid transport|transmembrane transport integral to membrane large_intestine(3)|lung(1)|prostate(1)|skin(1) 6 CTGGGCTACATTACTGGCTCC 0.642000 10 13 0 0 0.411799 0 0 SERTAD2 9792 broad.mit.edu 37 2 64863637 64863637 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:64863637A>G ENST00000313349.3 - 2 666 c.369T>C c.(367-369)acT>acC p.T123T NM_014755.2 NP_055570.1 Q14140 SRTD2_HUMAN SERTA domain containing 2 123 negative regulation of cell growth|transcription, DNA-dependent cytoplasm|nucleus breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1) 12 CCAGGGGCGTAGTGCTTCCGA 0.701000 44 50 0 0 0.847076 0 0 PRPF40B 25766 broad.mit.edu 37 12 50031329 50031329 + Missense_Mutation SNP G G T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:50031329G>T ENST00000261897.1 + 16 2104 c.1553G>T c.(1552-1554)aGc>aTc p.S518I PRPF40B_ENST00000548825.2_Missense_Mutation_p.S546I|PRPF40B_ENST00000380281.1_Missense_Mutation_p.S524I Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 524 FF 2. mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 CCAGCAGTCAGCACTGATGTC 0.607000 OREG0021797 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 39 4.35082e-09 4.56836e-09 0.592651 1 0 SUCLG2 8801 broad.mit.edu 37 3 67546326 67546326 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:67546326T>C ENST00000307227.5 - 9 985 c.958A>G c.(958-960)Att>Gtt p.I320V SUCLG2_ENST00000493112.1_Missense_Mutation_p.I320V|SUCLG2_ENST00000492795.1_Missense_Mutation_p.I320V NM_003848.3 NP_003839.2 Q96I99 SUCB2_HUMAN succinate-CoA ligase, GDP-forming, beta subunit 320 succinyl-CoA metabolic process|tricarboxylic acid cycle mitochondrial matrix ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 10 Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121) BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153) Succinic acid(DB00139) TTAAGGAAAATGATATCACAA 0.443000 30 19 0 0 0.804634 0 0 RAD52 5893 broad.mit.edu 37 12 1036424 1036424 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:1036424A>G ENST00000358495.3 - 6 492 c.354T>C c.(352-354)ggT>ggC p.G118G RAD52_ENST00000545564.1_Silent_p.G118G|RAD52_ENST00000430095.2_Silent_p.G118G|RAD52_ENST00000539046.1_Silent_p.G41G|RAD52_ENST00000536177.1_Silent_p.G118G NM_134424.2 NP_602296.2 P43351 RAD52_HUMAN RAD52 homolog (S. cerevisiae) 118 DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323) CATGATATGAACCATCCTGGG 0.532000 Homologous recombination 50 294 0 0 0.870114 0 0 EGLN2 112398 broad.mit.edu 37 19 41307235 41307235 + Missense_Mutation SNP T T G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:41307235T>G ENST00000593726.1 + 1 1786 c.758T>G c.(757-759)aTt>aGt p.I253S EGLN2_ENST00000303961.4_Missense_Mutation_p.I253S|EGLN2_ENST00000406058.2_Missense_Mutation_p.I253S|CTC-490E21.12_ENST00000601627.1_Missense_Mutation_p.L12V|RAB4B-EGLN2_ENST00000594136.1_3'UTR Q96KS0 EGLN2_HUMAN egl-9 family hypoxia-inducible factor 2 253 cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia cytoplasm|nucleus ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Vitamin C(DB00126) TGTCGAAGCATTGGTGCCCTC 0.657000 22 34 0 0 0.654019 0 0 DIS3L 115752 broad.mit.edu 37 15 66618704 66618704 + Splice_Site SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr15:66618704T>C ENST00000319194.5 + 12 2213 c.e12+2 DIS3L_ENST00000319212.4_Splice_Site|RP11-352G18.2_ENST00000565993.1_RNA NM_133375.3 NP_588616.1 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding p.?(1) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 AGATACACGGTATTCCTCTTT 0.458000 33 71 0 0 0.760397 0 0 ASXL2 55252 broad.mit.edu 37 2 25966872 25966872 + Silent SNP T T G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:25966872T>G ENST00000435504.4 - 13 2627 c.2334A>C c.(2332-2334)ccA>ccC p.P778P ASXL2_ENST00000404843.1_Silent_p.P518P|ASXL2_ENST00000272341.4_Silent_p.P518P|ASXL2_ENST00000336112.4_Silent_p.P750P Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 778 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTGGAGGCACTGGGGGGGTTT 0.552000 44 98 0 0 0.870114 0 0 MED12L 116931 broad.mit.edu 37 3 150908555 150908555 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:150908555T>C ENST00000474524.1 + 13 1843 c.1805T>C c.(1804-1806)cTc>cCc p.L602P MED12L_ENST00000273432.4_Missense_Mutation_p.L462P|MED12L_ENST00000309237.4_Missense_Mutation_p.L602P|MED12L_ENST00000422248.2_Missense_Mutation_p.L602P NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 602 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CTGGTGCTGCTCTTCTGCGAG 0.468000 16 107 0 0 0.500413 0 0 TNC 3371 broad.mit.edu 37 9 117848833 117848833 + Nonsense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr9:117848833C>A ENST00000350763.4 - 3 1588 c.1177G>T c.(1177-1179)Gag>Tag p.E393* TNC_ENST00000542877.1_Nonsense_Mutation_p.E393*|TNC_ENST00000341037.4_Nonsense_Mutation_p.E393*|TNC_ENST00000346706.3_Nonsense_Mutation_p.E393*|TNC_ENST00000340094.3_Nonsense_Mutation_p.E393*|TNC_ENST00000345230.3_Nonsense_Mutation_p.E393*|TNC_ENST00000423613.2_Nonsense_Mutation_p.E393*|TNC_ENST00000537320.1_Nonsense_Mutation_p.E393*|TNC_ENST00000535648.1_Nonsense_Mutation_p.E393* NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 393 EGF-like 8. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 TCATCACACTCACACCGCCCG 0.577000 21 23 5.35356e-11 5.65659e-11 0.639603 1 0 SEPT7 989 broad.mit.edu 37 7 35930362 35930362 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:35930362T>C ENST00000494488.2 + 10 915 c.915T>C c.(913-915)taT>taC p.Y305Y SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000399034.2_Silent_p.Y320Y|SEPT7_ENST00000399035.3_Silent_p.Y318Y|SEPT7_ENST00000435235.1_Silent_p.Y266Y|SEPT7_ENST00000350320.6_Silent_p.Y318Y Q16181 SEPT7_HUMAN septin 7 319 cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber GTP binding|protein binding|structural molecule activity p.Y320Y(3) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1) 14 CTGTGACTTATAATGGAGTTG 0.323000 3 60 0 0 0.115264 0 0 PAAF1 80227 broad.mit.edu 37 11 73610254 73610254 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:73610254A>G ENST00000544909.1 + 3 606 c.349A>G c.(349-351)Atg>Gtg p.M117V PAAF1_ENST00000376384.5_Missense_Mutation_p.M99V|PAAF1_ENST00000541951.1_Start_Codon_SNP_p.M1V|PAAF1_ENST00000544552.1_Missense_Mutation_p.M99V|PAAF1_ENST00000536003.1_Missense_Mutation_p.M99V|PAAF1_ENST00000535604.1_Start_Codon_SNP_p.M1V|PAAF1_ENST00000310571.3_Missense_Mutation_p.M116V|PAAF1_ENST00000543079.1_3'UTR Q9BRP4 PAAF1_HUMAN proteasomal ATPase-associated factor 1 116 interspecies interaction between organisms proteasome complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(11;7.42e-05) TGACGGGACCATGAAAATCTG 0.433000 22 55 0 0 0.654019 0 0 POLM 27434 broad.mit.edu 37 7 44113413 44113413 + Missense_Mutation SNP G G T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:44113413G>T ENST00000242248.5 - 9 1384 c.1283C>A c.(1282-1284)cCt>cAt p.P428H POLM_ENST00000335195.6_Missense_Mutation_p.P391H|POLM_ENST00000395831.3_Missense_Mutation_p.P348H NM_013284.2 NP_037416.1 Q9NP87 DPOLM_HUMAN polymerase (DNA directed), mu 428 DNA recombination|DNA repair nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2) 22 CAGGGCGAAAGGGAACTGGCT 0.672000 DNA polymerases (catalytic subunits) 28 64 9.04072e-19 9.82432e-19 0.779181 1 0 KIF15 56992 broad.mit.edu 37 3 44844357 44844357 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:44844357A>G ENST00000326047.4 + 14 1710 c.1561A>G c.(1561-1563)Agg>Ggg p.R521G KIF15_ENST00000425755.1_Missense_Mutation_p.R156G NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 521 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) TCATTCCCTCAGGGAGGAGAA 0.383000 75 53 0 0 0.870114 0 0 RREB1 6239 broad.mit.edu 37 6 7230314 7230314 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:7230314A>G ENST00000379938.2 + 10 2519 c.1982A>G c.(1981-1983)cAc>cGc p.H661R RREB1_ENST00000379933.3_Missense_Mutation_p.H661R|RREB1_ENST00000334984.6_Missense_Mutation_p.H661R|RREB1_ENST00000349384.6_Missense_Mutation_p.H661R NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 661 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) TTGCGTGCCCACGTGCGCTCC 0.662000 21 25 0 0 0.639603 0 0 MTUS2 23281 broad.mit.edu 37 13 29599785 29599785 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr13:29599785C>A ENST00000431530.3 + 1 1038 c.980C>A c.(979-981)cCc>cAc p.P327H NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 317 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 TATGTTCCTCCCAGGAGAGTT 0.507000 3 43 0.115264 0.116093 0.115264 1 0 TBC1D23 55773 broad.mit.edu 37 3 100042461 100042461 + Silent SNP T T A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:100042461T>A ENST00000394144.4 + 19 2056 c.2049T>A c.(2047-2049)acT>acA p.T683T TBC1D23_ENST00000475134.1_Silent_p.T546T|TBC1D23_ENST00000344949.5_Silent_p.T668T|TBC1D23_ENST00000486274.1_3'UTR NM_001199198.2 NP_001186127.1 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 683 intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2) 25 GGGATGCAACTAAAGCCATAA 0.264000 15 33 0 0 0.608945 0 0 OR10G7 390265 broad.mit.edu 37 11 123909420 123909420 + Missense_Mutation SNP C C T rs147002134 byFrequency TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:123909420C>T ENST00000330487.5 - 1 297 c.289G>A c.(289-291)Gtg>Atg p.V97M NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) AGCTGAGCCACGCAGCTGTGG 0.537000 9 257 0 0 0.387290 0 0 TEK 7010 broad.mit.edu 37 9 27183560 27183560 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr9:27183560T>C ENST00000380036.4 + 8 1576 c.1134T>C c.(1132-1134)ccT>ccC p.P378P TEK_ENST00000519097.1_Silent_p.P231P|TEK_ENST00000406359.4_Silent_p.P335P NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 378 Ig-like C2-type 2. 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) GGCCGCTACCTACTAATGAAG 0.433000 96 111 0 0 0.870114 0 0 RHOBTB2 23221 broad.mit.edu 37 8 22865538 22865538 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:22865538A>G ENST00000251822.6 + 6 2071 c.1534A>G c.(1534-1536)Agc>Ggc p.S512G RHOBTB2_ENST00000522948.1_Missense_Mutation_p.S519G|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.S534G NM_015178.2 NP_055993.2 Q9BYZ6 RHBT2_HUMAN Rho-related BTB domain containing 2 512 BTB 2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 31 Prostate(55;0.0513)|Breast(100;0.214) Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) TGGCACCATCAGCGCCCACAA 0.572000 9 126 0 0 0.307466 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7677807 7677807 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:7677807C>A ENST00000446248.2 + 13 2610 c.2509C>A c.(2509-2511)Ctg>Atg p.L837M CAMSAP3_ENST00000160298.4_Missense_Mutation_p.L810M NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 810 Pro-rich. epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 CCTCCCCCACCTGCGCAAGTT 0.721000 3 6 5.9392e-07 6.16678e-07 0.217242 1 0 LAMA1 284217 broad.mit.edu 37 18 6949184 6949184 + Silent SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr18:6949184C>A ENST00000389658.3 - 59 8565 c.8472G>T c.(8470-8472)gtG>gtT p.V2824V NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2824 Laminin G-like 4. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTCCATCTCCCACCACAGTCA 0.483000 29 54 6.50621e-10 6.84864e-10 0.769981 1 0 LRPPRC 10128 broad.mit.edu 37 2 44145522 44145522 + Nonsense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:44145522C>T ENST00000260665.7 - 28 2969 c.2912G>A c.(2911-2913)tGg>tAg p.W971* NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 971 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AGCTCTTTGCCAGTCACCGTT 0.299000 28 86 0 0 0.729181 0 0 WDHD1 11169 broad.mit.edu 37 14 55411062 55411062 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr14:55411062A>G ENST00000360586.3 - 25 3242 c.3177T>C c.(3175-3177)acT>acC p.T1059T WDHD1_ENST00000421192.1_Silent_p.T936T|WDHD1_ENST00000420358.2_Silent_p.T936T|WDHD1_ENST00000359167.4_Silent_p.T577T NM_007086.3 NP_009017.1 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 1059 cytoplasm|nucleoplasm DNA binding breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2) 42 TTCTTTCTTCAGTTGACAATA 0.328000 80 142 0 0 0.870114 0 0 TAAR5 9038 broad.mit.edu 37 6 132910127 132910127 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:132910127A>G ENST00000258034.2 - 1 750 c.699T>C c.(697-699)atT>atC p.I233I NM_003967.2 NP_003958.2 O14804 TAAR5_HUMAN trace amine associated receptor 5 233 synaptic transmission integral to plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 32 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) TCAATGTGGTAATCTGCTGAG 0.512000 45 62 0 0 0.847076 0 0 FES 2242 broad.mit.edu 37 15 91428282 91428282 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr15:91428282T>C ENST00000328850.3 + 2 149 c.7T>C c.(7-9)Ttc>Ctc p.F3L FES_ENST00000394302.1_Missense_Mutation_p.F3L|FES_ENST00000450438.2_Missense_Mutation_p.F3L|FES_ENST00000414248.2_Missense_Mutation_p.F3L|FES_ENST00000394300.3_Missense_Mutation_p.F3L|FES_ENST00000444422.2_Missense_Mutation_p.F3L NM_002005.3 NP_001996.1 P07332 FES_HUMAN feline sarcoma oncogene 3 FCH.|Important for interaction with membranes containing phosphoinositides. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CACTATGGGCTTCTCTTCCGA 0.627000 82 202 0 0 0.870114 0 0 BCORL1 63035 broad.mit.edu 37 X 129173135 129173135 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chrX:129173135A>G ENST00000540052.1 + 9 4540 c.4496A>G c.(4495-4497)aAt>aGt p.N1499S BCORL1_ENST00000359304.2_Missense_Mutation_p.N1369S|BCORL1_ENST00000303743.5_Missense_Mutation_p.N1573S|BCORL1_ENST00000218147.7_Missense_Mutation_p.N1499S NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1499 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 GCGGTGGTCAATGACAACCTG 0.572000 52 61 0 0 0.870114 0 0 MFAP4 4239 broad.mit.edu 37 17 19287984 19287984 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:19287984T>C ENST00000395592.2 - 6 702 c.631A>G c.(631-633)Acc>Gcc p.T211A MFAP4_ENST00000299610.4_Missense_Mutation_p.T187A|MFAP4_ENST00000497081.2_Missense_Mutation_p.T212A NM_001198695.1 NP_001185624.1 P55083 MFAP4_HUMAN microfibrillar-associated protein 4 187 Fibrinogen C-terminal. cell adhesion|signal transduction microfibril receptor binding large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 10 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) CGGTCGAAGGTAGAGAACTTC 0.612000 48 109 0 0 0.870114 0 0 ORC1 4998 broad.mit.edu 37 1 52841244 52841244 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:52841244G>A ENST00000371568.3 - 15 2379 c.2161C>T c.(2161-2163)Cgg>Tgg p.R721W ORC1_ENST00000371566.1_Missense_Mutation_p.R721W NM_001190818.1|NM_001190819.1|NM_004153.3 NP_001177747.1|NP_001177748.1|NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 721 Necessary and sufficient for ORC complex assembly. cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 TCCAGGCACCGTCGTGCATCT 0.547000 45 30 0 0 0.870114 0 0 SAMD15 161394 broad.mit.edu 37 14 77844713 77844713 + Silent SNP A A C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr14:77844713A>C ENST00000216471.4 + 1 1238 c.952A>C c.(952-954)Aga>Cga p.R318R SAMD15_ENST00000533095.2_Intron NM_001010860.1 NP_001010860.1 Q9P1V8 SAM15_HUMAN sterile alpha motif domain containing 15 318 breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CCACAAGCCAAGAAAGTCTAC 0.433000 28 66 0 0 0.827153 0 0 SNAPC5 10302 broad.mit.edu 37 15 66790065 66790065 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr15:66790065A>G ENST00000316634.5 - 1 86 c.5T>C c.(4-6)cTg>cCg p.L2P SNAPC5_ENST00000307979.7_Missense_Mutation_p.L2P|SNAPC5_ENST00000566658.1_Missense_Mutation_p.L2P|SNAPC5_ENST00000395589.2_Missense_Mutation_p.L2P|SNAPC5_ENST00000563480.2_Missense_Mutation_p.L2P O75971 SNPC5_HUMAN small nuclear RNA activating complex, polypeptide 5, 19kDa 2 transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase III promoter nucleoplasm sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(1) 2 AAGCCGGCTCAGCATGTTGCC 0.682000 OREG0023204 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 41 0 0 0.592651 0 0 ZNF366 167465 broad.mit.edu 37 5 71756853 71756853 + Silent SNP G G T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:71756853G>T ENST00000318442.5 - 2 961 c.471C>A c.(469-471)ccC>ccA p.P157P NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 157 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) ACACGGCGCTGGGCTTAATGG 0.607000 6 215 5.18039e-06 5.35903e-06 0.278610 1 0 MFSD8 256471 broad.mit.edu 37 4 128842707 128842707 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr4:128842707T>C ENST00000296468.3 - 12 1449 c.1322A>G c.(1321-1323)tAt>tGt p.Y441C MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Missense_Mutation_p.Y396C NM_152778.2 NP_689991.1 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 8 441 cell death|transmembrane transport integral to membrane|lysosomal membrane cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1) 23 AATTTTTGAATATAGAGTATA 0.408000 52 39 0 0 0.870114 0 0 ZNF750 79755 broad.mit.edu 37 17 80789303 80789303 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:80789303C>T ENST00000269394.3 - 2 1861 c.1028G>A c.(1027-1029)cGa>cAa p.R343Q TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_5'UTR|TBCD_ENST00000355528.4_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 343 intracellular zinc ion binding p.R343L(1) NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) GCTCTGATCTCGGGTGAGGCC 0.532000 66 158 0 0 0.870114 0 0 TFAP2D 83741 broad.mit.edu 37 6 50740509 50740509 + Nonsense_Mutation SNP G G T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:50740509G>T ENST00000008391.3 + 8 1519 c.1291G>T c.(1291-1293)Gag>Tag p.E431* NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 431 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) TGCCAACTCGGAGAAAGCTCC 0.478000 4 50 0.00909568 0.0092275 0.150653 1 0 PCDHB7 56129 broad.mit.edu 37 5 140554722 140554722 + Missense_Mutation SNP T T A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:140554722T>A ENST00000231137.3 + 1 2480 c.2306T>A c.(2305-2307)aTc>aAc p.I769N NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 769 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAACCAATTATCCCCAACCTG 0.493000 9 66 0 0 0.557998 0 0 GPR112 139378 broad.mit.edu 37 X 135431755 135431755 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chrX:135431755A>G ENST00000394143.1 + 6 6181 c.5890A>G c.(5890-5892)Atc>Gtc p.I1964V GPR112_ENST00000412101.1_Missense_Mutation_p.I1759V|GPR112_ENST00000394141.1_Missense_Mutation_p.I1759V|GPR112_ENST00000370652.1_Missense_Mutation_p.I1964V|GPR112_ENST00000287534.4_Missense_Mutation_p.I1901V NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1964 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) TTTAAGAGCTATCACTTCCAC 0.418000 88 70 0 0 0.870114 0 0 TLN1 7094 broad.mit.edu 37 9 35714321 35714321 + Missense_Mutation SNP T T G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr9:35714321T>G ENST00000314888.9 - 24 3388 c.3035A>C c.(3034-3036)cAg>cCg p.Q1012P TLN1_ENST00000540444.1_Missense_Mutation_p.Q1012P NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 1012 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) AGCCTGGTCCTGAATCGTTGG 0.597000 46 23 0 0 0.870114 0 0 TRGV2 6974 broad.mit.edu 37 7 38402622 38402622 + RNA SNP T T A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:38402622T>A ENST00000426402.2 - 0 386 GTCATAGTACTGAAGACGCTG 0.473000 11 117 0 0 0.667858 0 0 CLIP3 25999 broad.mit.edu 37 19 36509856 36509856 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:36509856C>T ENST00000360535.4 - 9 1354 c.1127G>A c.(1126-1128)cGg>cAg p.R376Q CLIP3_ENST00000593074.1_Missense_Mutation_p.R376Q|AC002116.7_ENST00000586962.1_RNA NM_015526.2 NP_056341.1 Q96DZ5 CLIP3_HUMAN CAP-GLY domain containing linker protein 3 376 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) CCGGGGGGTCCGGGGTGTGGA 0.617000 38 66 0 0 0.819951 0 0 GATAD2A 54815 broad.mit.edu 37 19 19609378 19609378 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:19609378G>A ENST00000404158.1 + 10 1469 c.1051G>A c.(1051-1053)Gcg>Acg p.A351T GATAD2A_ENST00000360315.3_Missense_Mutation_p.A351T|GATAD2A_ENST00000252577.5_Missense_Mutation_p.A351T|GATAD2A_ENST00000358713.3_Missense_Mutation_p.A351T|GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000429563.2_Missense_Mutation_p.A178T Q86YP4 P66A_HUMAN GATA zinc finger domain containing 2A 351 DNA methylation|negative regulation of transcription, DNA-dependent nuclear speck|NuRD complex protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 CGCCAAGCTGGCGCTGCGCAA 0.647000 6 12 0 0 0.479597 0 0 USP43 124739 broad.mit.edu 37 17 9631817 9631817 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:9631817T>C ENST00000570827.2 + 15 3023 c.1949T>C c.(1948-1950)aTg>aCg p.M650T USP43_ENST00000570475.1_Missense_Mutation_p.M956T|USP43_ENST00000285199.6_Missense_Mutation_p.M961T Q70EL4 UBP43_HUMAN ubiquitin specific peptidase 43 961 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity p.M962T(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 AGCTTCCAGATGGGAAGCAAA 0.567000 8 26 0 0 0.307466 0 0 BBC3 27113 broad.mit.edu 37 19 47725155 47725155 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:47725155C>T ENST00000449228.1 - 4 752 c.589G>A c.(589-591)Gca>Aca p.A197T BBC3_ENST00000439096.2_Silent_p.R162R|BBC3_ENST00000341983.4_Silent_p.R100R|BBC3_ENST00000300880.7_Missense_Mutation_p.A37T NM_001127240.2 NP_001120712.1 Q9BXH1 BBC3_HUMAN BCL2 binding component 3 103 activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol cytosol|mitochondrial outer membrane protein binding endometrium(1)|lung(2)|skin(1) 4 all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234) AGGGGCGGTGCCGCTGCTGCT 0.612000 4 45 0 0 0.150653 0 0 DLC1 10395 broad.mit.edu 37 8 13356895 13356895 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:13356895G>A ENST00000276297.4 - 2 1095 c.686C>T c.(685-687)gCt>gTt p.A229V DLC1_ENST00000511869.1_Missense_Mutation_p.A229V|DLC1_ENST00000316609.5_Missense_Mutation_p.A229V NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 229 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 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 AGCAATTACAGCAGAGTTAAG 0.388000 42 436 0 0 0.819951 0 0 ALX4 60529 broad.mit.edu 37 11 44297022 44297022 + Missense_Mutation SNP C C T rs104894193 TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:44297022C>T ENST00000329255.3 - 2 756 c.653G>A c.(652-654)cGg>cAg p.R218Q NM_021926.3 NP_068745.2 Q9H161 ALX4_HUMAN ALX homeobox 4 218 R -> Q (in PFM2). hair follicle development p.R218Q(1) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 16 GAAGGTGGTCCGGTTCCGCCG 0.632000 97 218 0 0 0.870114 0 0 MSGN1 343930 broad.mit.edu 37 2 17998261 17998261 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:17998261G>A ENST00000281047.3 + 1 499 c.476G>A c.(475-477)gGc>gAc p.G159D NM_001105569.1 NP_001099039.1 A6NI15 MSGN1_HUMAN mesogenin 1 159 Helix-loop-helix motif. cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AGCCAGAGAGGCCAGCCTCTC 0.587000 14 20 0 0 0.557998 0 0 DEPDC5 9681 broad.mit.edu 37 22 32188793 32188793 + Missense_Mutation SNP G G A rs12158711 TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr22:32188793G>A ENST00000400246.1 + 12 899 c.757G>A c.(757-759)Gac>Aac p.D253N DEPDC5_ENST00000536766.1_Missense_Mutation_p.D225N|DEPDC5_ENST00000400248.1_Missense_Mutation_p.D253N|DEPDC5_ENST00000400249.2_Missense_Mutation_p.D253N|DEPDC5_ENST00000400242.3_Missense_Mutation_p.D253N|DEPDC5_ENST00000382105.2_Missense_Mutation_p.D253N|DEPDC5_ENST00000382111.2_Missense_Mutation_p.D253N|DEPDC5_ENST00000266091.3_Missense_Mutation_p.D253N|DEPDC5_ENST00000382112.3_Missense_Mutation_p.D253N|DEPDC5_ENST00000535622.1_Missense_Mutation_p.D253N O75140 DEPD5_HUMAN DEP domain containing 5 253 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 ATTCTATGAAGACTTTTACAA 0.368000 14 123 0 0 0.479597 0 0 STRN 6801 broad.mit.edu 37 2 37193392 37193392 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:37193392A>G ENST00000263918.4 - 1 223 c.215T>C c.(214-216)gTg>gCg p.V72A STRN_ENST00000379213.2_Missense_Mutation_p.V60A NM_003162.3 NP_003153.2 O43815 STRN_HUMAN striatin, calmodulin binding protein 72 dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Ovarian(717;0.0129)|all_hematologic(82;0.21) CGCCCGCTCCACCTCCCACTG 0.716000 3 4 0 0 0.115264 0 0 ZNF862 643641 broad.mit.edu 37 7 149545507 149545507 + Missense_Mutation SNP G G C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:149545507G>C ENST00000223210.4 + 4 1170 c.925G>C c.(925-927)Gaa>Caa p.E309Q NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 309 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 TGATGCAGTAGAATCCTGCAT 0.348000 3 9 0 0 0.115264 0 0 KIF18A 81930 broad.mit.edu 37 11 28116199 28116199 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:28116199T>C ENST00000263181.6 - 3 764 c.474A>G c.(472-474)tcA>tcG p.S158S NM_031217.3 NP_112494.3 Q8NI77 KI18A_HUMAN kinesin family member 18A 158 Kinesin-motor. blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 36 CCTCCAGATATGAAACTGCAG 0.323000 7 285 0 0 0.307466 0 0 DHX8 1659 broad.mit.edu 37 17 41582145 41582145 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:41582145G>A ENST00000262415.3 + 12 1752 c.1680G>A c.(1678-1680)gaG>gaA p.E560E DHX8_ENST00000540306.1_Silent_p.E560E NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 560 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) CAATCCTTGAGCAGAGGGAGA 0.463000 69 144 0 0 0.870114 0 0 C20orf194 25943 broad.mit.edu 37 20 3240664 3240664 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr20:3240664T>C ENST00000252032.9 - 32 2951 c.2884A>G c.(2884-2886)Aaa>Gaa p.K962E C20orf194_ENST00000453730.2_3'UTR NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 962 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 GCATTCAATTTACCTTCATAC 0.493000 26 53 0 0 0.693898 0 0 C4BPA 722 broad.mit.edu 37 1 207300202 207300202 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:207300202A>G ENST00000367070.3 + 7 1045 c.851A>G c.(850-852)gAt>gGt p.D284G NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 284 Sushi 4. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 TGTGATGCTGATAGCAAATGG 0.403000 55 151 0 0 0.870114 0 0 PCDH11X 27328 broad.mit.edu 37 X 91090852 91090852 + Missense_Mutation SNP G G T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chrX:91090852G>T ENST00000373094.1 + 1 1194 c.349G>T c.(349-351)Gat>Tat p.D117Y PCDH11X_ENST00000361724.1_Missense_Mutation_p.D117Y|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D117Y|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D117Y|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D117Y|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D117Y|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D117Y|PCDH11X_ENST00000504220.1_Missense_Mutation_p.D117Y|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D117Y NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 117 Cadherin 1. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CATTTTGCCGGATGAAATATT 0.393000 4 167 0.00024832 0.000255311 0.150653 1 0 ERBB3 2065 broad.mit.edu 37 12 56479046 56479046 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:56479046C>T ENST00000411731.2 + 3 666 c.502C>T c.(502-504)Ctc>Ttc p.L168F ERBB3_ENST00000415288.2_Intron|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000267101.3_Intron NM_001005915.1 NP_001005915.1 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 0 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CCCAAGACTGCTCACTCTAAG 0.582000 18 30 0 0 0.557998 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554720 140554720 + Silent SNP T T A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:140554720T>A ENST00000231137.3 + 1 2478 c.2304T>A c.(2302-2304)atT>atA p.I768I NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 768 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGAAACCAATTATCCCCAACC 0.488000 10 66 0 0 0.575678 0 0 NVL 4931 broad.mit.edu 37 1 224505589 224505589 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:224505589C>T ENST00000281701.6 - 3 434 c.175G>A c.(175-177)Gta>Ata p.V59I NVL_ENST00000391875.2_5'UTR|NVL_ENST00000361463.3_5'UTR|NVL_ENST00000482491.1_5'UTR|NVL_ENST00000469075.1_Missense_Mutation_p.V59I|NVL_ENST00000468673.1_5'UTR|NVL_ENST00000340871.4_5'UTR NM_002533.3 NP_002524.2 O15381 NVL_HUMAN nuclear VCP-like 59 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) CCTTTTTCTACCTGAATCCTA 0.294000 19 73 0 0 0.557998 0 0 TMEM97 27346 broad.mit.edu 37 17 26653714 26653714 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:26653714C>T ENST00000226230.6 + 3 571 c.426C>T c.(424-426)acC>acT p.T142T TMEM97_ENST00000583381.1_Silent_p.T35T|TMEM97_ENST00000336687.6_Silent_p.T35T NM_014573.2 NP_055388.2 Q5BJF2 TMM97_HUMAN transmembrane protein 97 142 cholesterol homeostasis|regulation of cell growth integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum protein binding endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 6 all_lung(13;0.000238)|Lung NSC(42;0.000789) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) AACGGTTAACCCTTGTGTCTG 0.408000 35 53 0 0 0.804634 0 0 WDR72 256764 broad.mit.edu 37 15 53907852 53907852 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr15:53907852T>C ENST00000396328.1 - 15 2790 c.2551A>G c.(2551-2553)Agt>Ggt p.S851G WDR72_ENST00000557913.1_Missense_Mutation_p.S848G|WDR72_ENST00000559418.1_Missense_Mutation_p.S861G|WDR72_ENST00000360509.5_Missense_Mutation_p.S851G NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 851 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) ATCATTCCACTATTGCATAAA 0.353000 64 124 0 0 0.870114 0 0 AGTPBP1 23287 broad.mit.edu 37 9 88207490 88207490 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr9:88207490C>T ENST00000357081.3 - 19 2697 c.2553G>A c.(2551-2553)acG>acA p.T851T AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Silent_p.T863T|AGTPBP1_ENST00000376083.3_Silent_p.T811T|AGTPBP1_ENST00000432218.1_Intron Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 851 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3) 44 AAGTTGAATACGTATATGGAT 0.279000 35 112 0 0 0.804634 0 0 CNN2 1265 broad.mit.edu 37 19 1037669 1037669 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:1037669A>G ENST00000263097.4 + 7 1063 c.700A>G c.(700-702)Aag>Gag p.K234E CNN2_ENST00000565096.2_Missense_Mutation_p.K223E|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000348419.3_Missense_Mutation_p.K195E|CNN2_ENST00000562958.2_Missense_Mutation_p.K255E NM_004368.2 NP_004359.1 Q99439 CNN2_HUMAN calponin 2 234 actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process cell-cell junction|stress fiber actin binding|calmodulin binding endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) CTATGATACCAAGCTGGGAAC 0.637000 101 87 0 0 0.870114 0 0 CES1 1066 broad.mit.edu 37 16 55857583 55857583 + Missense_Mutation SNP T T A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:55857583T>A ENST00000422046.2 - 4 696 c.415A>T c.(415-417)Atc>Ttc p.I139F CES1_ENST00000361503.4_Missense_Mutation_p.I139F|CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Missense_Mutation_p.I140F P23141 EST1_HUMAN carboxylesterase 1 139 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) CCTCCGTGGATCCACACCATC 0.557000 7 54 0 0 0.335167 0 0 UNC79 57578 broad.mit.edu 37 14 94088152 94088152 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr14:94088152C>T ENST00000553484.1 + 31 4793 c.4639C>T c.(4639-4641)Cgg>Tgg p.R1547W UNC79_ENST00000555664.1_Missense_Mutation_p.R1525W|UNC79_ENST00000393151.2_Missense_Mutation_p.R1525W|UNC79_ENST00000256339.4_Missense_Mutation_p.R1348W Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1525 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GTGCATAGATCGGTGTGACAT 0.453000 115 53 0 0 0.870114 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159818582 159818582 + RNA SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:159818582C>T ENST00000497452.1 - 0 517 GGACCGGAAGCGGCGCCGCAC 0.776000 14 3 0 0 0.557998 0 0 IFIT1B 439996 broad.mit.edu 37 10 91143311 91143311 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:91143311T>C ENST00000371809.3 + 2 321 c.241T>C c.(241-243)Tta>Cta p.L81L LIPA_ENST00000371837.1_Intron NM_001010987.2 NP_001010987.1 Q5T764 IFT1B_HUMAN interferon-induced protein with tetratricopeptide repeats 1B 81 binding endometrium(2)|large_intestine(3)|lung(8) 13 GGCTGAAGACTTAATTCAGAA 0.463000 58 100 0 0 0.870114 0 0 RHOXF1 158800 broad.mit.edu 37 X 119249701 119249701 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chrX:119249701T>C ENST00000217999.2 - 1 146 c.72A>G c.(70-72)acA>acG p.T24T RP4-755D9.1_ENST00000553843.1_RNA NM_139282.1 NP_644811.1 Q8NHV9 RHXF1_HUMAN Rhox homeobox family, member 1 24 gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 10 CCAGCTGAGGTGTGGGGCTTA 0.587000 38 28 0 0 0.812448 0 0 CHD6 84181 broad.mit.edu 37 20 40081515 40081515 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr20:40081515T>C ENST00000373233.3 - 21 3365 c.3188A>G c.(3187-3189)gAc>gGc p.D1063G CHD6_ENST00000309279.7_Intron NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1063 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) CATGAGCTCGTCTTCCTCAAA 0.527000 40 90 0 0 0.853193 0 0 COL22A1 169044 broad.mit.edu 37 8 139729066 139729066 + Splice_Site SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:139729066A>G ENST00000303045.6 - 28 2847 c.e28+1 COL22A1_ENST00000435777.1_Splice_Site|COL22A1_ENST00000341807.4_Splice_Site NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) AAACAAACAGACCTTCTCTCC 0.373000 HNSCC(7;0.00092) 15 28 0 0 0.479597 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37442500 37442500 + Splice_Site SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:37442500A>G ENST00000374660.1 + 13 1639 c.1539_splice c.e13-1 p.S514_splice ANKRD30A_ENST00000361713.1_Splice_Site_p.S514_splice|ANKRD30A_ENST00000602533.1_Splice_Site_p.S514_splice Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 570 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CTTTTAACAGAGTCTCTGTGA 0.284000 39 361 0 0 0.870114 0 0 C11orf24 53838 broad.mit.edu 37 11 68029863 68029863 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:68029863C>T ENST00000304271.6 - 4 1002 c.600G>A c.(598-600)gcG>gcA p.A200A C11orf24_ENST00000533310.1_Intron NM_022338.3 NP_071733.1 Q96F05 CK024_HUMAN chromosome 11 open reading frame 24 200 integral to membrane endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1) 13 TTCTTGGCAACGCGCTGCTCT 0.617000 48 102 0 0 0.870114 0 0 ZNF320 162967 broad.mit.edu 37 19 53367325 53367325 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:53367325C>T ENST00000597909.1 - 6 547 c.311G>A c.(310-312)gGc>gAc p.G104D A2RRD8 ZN320_HUMAN zinc finger protein 320 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(134;0.0534) CACATCACAGCCCTGTATAAA 0.468000 29 70 0 0 0.729181 0 0 NF1 4763 broad.mit.edu 37 17 29556200 29556200 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:29556200G>A ENST00000358273.4 + 21 2950 c.2567G>A c.(2566-2568)aGc>aAc p.S856N NF1_ENST00000356175.3_Missense_Mutation_p.S856N NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 856 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CAGCAGAGAAGCAATTCTGGC 0.507000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 27 66 0 0 0.706142 0 0 FAM131A 131408 broad.mit.edu 37 3 184062584 184062584 + Silent SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:184062584C>A ENST00000310585.4 + 3 2198 c.834C>A c.(832-834)ccC>ccA p.P278P FAM131A_ENST00000450976.1_Silent_p.P224P|FAM131A_ENST00000383847.2_Silent_p.P309P|FAM131A_ENST00000453072.1_Silent_p.P224P|FAM131A_ENST00000340957.5_Silent_p.P224P|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000418281.1_Silent_p.P186P Q6UXB0 F131A_HUMAN family with sequence similarity 131, member A 278 extracellular region breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1) 14 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ACAACTCGCCCCTCACAGAGT 0.672000 27 94 3.33393e-15 3.56298e-15 0.804634 1 0 RAPH1 65059 broad.mit.edu 37 2 204304389 204304389 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:204304389C>T ENST00000319170.5 - 14 3823 c.3524G>A c.(3523-3525)cGa>cAa p.R1175Q RAPH1_ENST00000374493.3_Missense_Mutation_p.R1227Q|RAPH1_ENST00000457812.1_Intron NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 1175 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GATGGACTTTCGTTGCAGTGT 0.567000 42 77 0 0 0.859065 0 0 PRDM7 11105 broad.mit.edu 37 16 90142264 90142264 + Missense_Mutation SNP C C G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:90142264C>G ENST00000449207.2 - 1 74 c.55G>C c.(55-57)Gag>Cag p.E19Q PRDM7_ENST00000407825.1_5'UTR|PRDM7_ENST00000569206.1_Intron NM_001098173.1 NP_001091643.1 Q9NQW5 PRDM7_HUMAN PR domain containing 7 19 chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) GGCTTCCGCTCTGTTCTCTCT 0.592000 13 14 0 0 0.500413 0 0 ADCY5 111 broad.mit.edu 37 3 123044258 123044258 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:123044258T>C ENST00000462833.1 - 8 3211 c.1999A>G c.(1999-2001)Atc>Gtc p.I667V ADCY5_ENST00000309879.5_Missense_Mutation_p.I317V|ADCY5_ENST00000491190.1_Missense_Mutation_p.I300V NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 667 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) TTGTGCCCGATGGAGTTGGTT 0.587000 84 182 0 0 0.870114 0 0 TTN 7273 broad.mit.edu 37 2 179604723 179604723 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:179604723C>A ENST00000589042.1 - 48 13461 c.13237G>T c.(13237-13239)Ggt>Tgt p.G4413C TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G4175C|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.G4050C|TTN_ENST00000591111.1_Missense_Mutation_p.G4096C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G4242C NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4096 Ig-like 24. 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) GAGAAAAGACCTGGCTGCTCG 0.473000 47 93 1.38909e-20 1.51735e-20 0.870114 1 0 TUFT1 7286 broad.mit.edu 37 1 151535065 151535065 + Missense_Mutation SNP G G A rs113585307 TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:151535065G>A ENST00000368849.3 + 3 202 c.140G>A c.(139-141)gGc>gAc p.G47D TUFT1_ENST00000538902.1_Missense_Mutation_p.G66D|TUFT1_ENST00000353024.3_Intron|TUFT1_ENST00000368848.2_Missense_Mutation_p.G22D|TUFT1_ENST00000392712.3_Missense_Mutation_p.G22D NM_020127.2 NP_064512.1 Q9NNX1 TUFT1_HUMAN tuftelin 1 47 bone mineralization|odontogenesis cytoplasm|extracellular region structural constituent of tooth enamel cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1) 13 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GGCCAGGCGGGCAGGAAGACC 0.537000 19 33 0 0 0.539581 0 0 DGKH 160851 broad.mit.edu 37 13 42793830 42793830 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr13:42793830T>C ENST00000379274.2 + 28 3363 c.2934T>C c.(2932-2934)ccT>ccC p.P978P DGKH_ENST00000538674.1_Silent_p.P869P|DGKH_ENST00000540693.1_Silent_p.P1114P|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000337343.4_Silent_p.P1114P|DGKH_ENST00000261491.4_Silent_p.P1114P|DGKH_ENST00000536612.1_Silent_p.P978P Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta 1114 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) AGGAACCTCCTATGGATTGCA 0.368000 25 48 0 0 0.706142 0 0 ATP4A 495 broad.mit.edu 37 19 36047924 36047924 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:36047924A>G ENST00000262623.3 - 12 1788 c.1760T>C c.(1759-1761)aTg>aCg p.M587T NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 587 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) TGGAAAGTTCATGGCCTCTAC 0.587000 32 56 0 0 0.750413 0 0 AEBP1 165 broad.mit.edu 37 7 44149825 44149825 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:44149825A>G ENST00000223357.3 + 11 1585 c.1280A>G c.(1279-1281)gAc>gGc p.D427G NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 427 F5/8 type C.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for DNA-binding and interaction with NFKBIA (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 ACTGAGGACGACTACTATGAT 0.627000 15 31 0 0 0.539581 0 0 PHLDB2 90102 broad.mit.edu 37 3 111685552 111685552 + Splice_Site SNP T T G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:111685552T>G ENST00000431670.2 + 14 3579 c.e14+2 PHLDB2_ENST00000495180.1_Splice_Site|PHLDB2_ENST00000412622.1_Splice_Site|PHLDB2_ENST00000393923.3_Splice_Site|PHLDB2_ENST00000481953.1_Splice_Site|PHLDB2_ENST00000393925.3_Splice_Site NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 GAATCCAGGGTAAGCTTCATA 0.493000 77 37 0 0 0.870114 0 0 LEFTY2 7044 broad.mit.edu 37 1 226128690 226128690 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:226128690G>A ENST00000366820.5 - 1 499 c.151C>T c.(151-153)Ctg>Ttg p.L51L LEFTY2_ENST00000420304.2_Silent_p.L51L NM_003240.3 NP_003231.2 O00292 LFTY2_HUMAN left-right determination factor 2 51 cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway extracellular space|platelet alpha granule lumen cytokine activity|growth factor activity|transforming growth factor beta receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(184;0.197) GGGATGACCAGCTTCTCCATG 0.701000 14 37 0 0 0.435327 0 0 BAI3 577 broad.mit.edu 37 6 69949021 69949021 + Missense_Mutation SNP T T A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:69949021T>A ENST00000370598.1 + 20 3538 c.2717T>A c.(2716-2718)aTa>aAa p.I906K BAI3_ENST00000238918.8_Missense_Mutation_p.I112K NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 906 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GCTAGGTACATACGCTCTGAG 0.363000 117 212 0 0 0.870114 0 0 MYOM1 8736 broad.mit.edu 37 18 3085102 3085102 + Missense_Mutation SNP T T G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr18:3085102T>G ENST00000356443.4 - 31 4613 c.4280A>C c.(4279-4281)gAa>gCa p.E1427A MYOM1_ENST00000261606.7_Missense_Mutation_p.E1331A|MYOM1_ENST00000400569.3_Missense_Mutation_p.E1427A NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 1427 Ig-like C2-type 4. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CAGGATAACTTCATAAATCCC 0.438000 9 30 0 0 0.361761 0 0 VNN2 8875 broad.mit.edu 37 6 133073887 133073887 + Splice_Site SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:133073887T>C ENST00000326499.6 - 4 663 c.537_splice c.e4-1 p.Y180_splice VNN2_ENST00000525270.1_Splice_Site_p.Y127_splice|RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000525289.1_Intron NM_004665.2 NP_004656.2 O95498 VNN2_HUMAN vanin 2 180 CN hydrolase. cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) GTACAGGTGGTACTACAACAA 0.403000 4 210 0 0 0.150653 0 0 TNFAIP8L3 388121 broad.mit.edu 37 15 51397273 51397273 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr15:51397273C>T ENST00000327536.5 - 1 200 c.101G>A c.(100-102)gGc>gAc p.G34D RP11-108K3.1_ENST00000559909.1_lincRNA NM_207381.2 NP_997264.2 Q5GJ75 TP8L3_HUMAN tumor necrosis factor, alpha-induced protein 8-like 3 34 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 11 all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338) ATCCCTTGTGCCTTGGGTCCC 0.527000 80 146 0 0 0.870114 0 0 FRG1B 284802 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 4 130 0 0 0.248553 0 0 INPP5F 22876 broad.mit.edu 37 10 121571296 121571296 + Missense_Mutation SNP A A C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:121571296A>C ENST00000361976.2 + 15 1881 c.1715A>C c.(1714-1716)gAa>gCa p.E572A NM_014937.3 NP_055752.1 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 572 phosphoric ester hydrolase activity breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) CCAGTGACAGAAGATCTTTAT 0.323000 80 135 0 0 0.870114 0 0 RRP1B 23076 broad.mit.edu 37 21 45107597 45107597 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr21:45107597G>A ENST00000340648.4 + 13 1459 c.1342G>A c.(1342-1344)Gca>Aca p.A448T NM_015056.2 NP_055871.1 Q14684 RRP1B_HUMAN ribosomal RNA processing 1B 448 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1) 21 STAD - Stomach adenocarcinoma(101;0.178) CGAGCCAGGTGCAGAGGCCAC 0.662000 15 34 0 0 0.539581 0 0 PMFBP1 83449 broad.mit.edu 37 16 72184607 72184607 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:72184607T>C ENST00000537465.1 - 5 694 c.536A>G c.(535-537)aAc>aGc p.N179S PMFBP1_ENST00000237353.10_Missense_Mutation_p.N179S|PMFBP1_ENST00000355636.6_Missense_Mutation_p.N34S Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 179 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) CCTGTAGAGGTTTAAGCTCCT 0.527000 7 221 0 0 0.248553 0 0 ITM2C 81618 broad.mit.edu 37 2 231741659 231741659 + Missense_Mutation SNP T T G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:231741659T>G ENST00000326427.6 + 4 664 c.538T>G c.(538-540)Tgg>Ggg p.W180G ITM2C_ENST00000409704.2_Missense_Mutation_p.W118G|ITM2C_ENST00000492029.1_3'UTR|ITM2C_ENST00000335005.6_Missense_Mutation_p.W133G|ITM2C_ENST00000326407.6_Intron NM_030926.4 NP_112188.1 Q9NQX7 ITM2C_HUMAN integral membrane protein 2C 180 BRICHOS. negative regulation of neuron projection development|neuron differentiation Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm beta-amyloid binding cervix(2)|lung(1)|ovary(1)|skin(1) 5 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) TCGCAACTTCTGGGAGCTCCT 0.582000 43 120 0 0 0.870114 0 0 TIAM1 7074 broad.mit.edu 37 21 32513436 32513436 + Splice_Site SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr21:32513436C>T ENST00000286827.3 - 23 4245 c.3774_splice c.e23+1 p.E1258_splice TIAM1_ENST00000541036.1_Splice_Site_p.E1198_splice NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1258 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity p.E1258E(2) autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 GGACCCTCACCTCTTTTTTCT 0.398000 26 71 0 0 0.717897 0 0 TBC1D17 79735 broad.mit.edu 37 19 50391043 50391043 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:50391043G>A ENST00000221543.5 + 15 1910 c.1611G>A c.(1609-1611)gaG>gaA p.E537E TBC1D17_ENST00000535102.2_Silent_p.E504E NM_024682.2 NP_078958.2 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 537 intracellular Rab GTPase activator activity NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) TGGACATGGAGAGGGACACCC 0.697000 11 14 0 0 0.479597 0 0 EXOC6 54536 broad.mit.edu 37 10 94733826 94733826 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:94733826C>T ENST00000371552.4 + 18 1804 c.1775C>T c.(1774-1776)gCa>gTa p.A592V EXOC6_ENST00000260762.6_Missense_Mutation_p.A597V|EXOC6_ENST00000371547.4_Missense_Mutation_p.A613V|EXOC6_ENST00000443748.2_Missense_Mutation_p.A494V NM_001013848.2 NP_001013870.1 Q8TAG9 EXOC6_HUMAN exocyst complex component 6 597 protein transport|vesicle docking involved in exocytosis exocyst cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 26 Colorectal(252;0.123) CGACATGCAGCAGAAGGAGAA 0.338000 33 72 0 0 0.779181 0 0 FGA 2243 broad.mit.edu 37 4 155508013 155508013 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr4:155508013G>A ENST00000302053.3 - 5 646 c.568C>T c.(568-570)Cgt>Tgt p.R190C FGA_ENST00000403106.3_Missense_Mutation_p.R190C NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 190 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TCTACTTCACGAGCTAAAGCC 0.418000 6 110 0 0 0.278610 0 0 SLC5A10 125206 broad.mit.edu 37 17 18916767 18916767 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:18916767G>A ENST00000317977.6 + 9 1397 c.826G>A c.(826-828)Ggg>Agg p.G276R SLC5A10_ENST00000395645.3_Missense_Mutation_p.G343R|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Missense_Mutation_p.G359R|SLC5A10_ENST00000395643.2_Missense_Mutation_p.G316R|SLC5A10_ENST00000395642.1_Missense_Mutation_p.G276R A0PJK1 SC5AA_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 10 343 sodium ion transport|transmembrane transport integral to membrane transporter activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3) 24 GCGGGCCTGCGGGGCCGAGGT 0.642000 20 44 0 0 0.717897 0 0 RABEP1 9135 broad.mit.edu 37 17 5280457 5280457 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:5280457T>C ENST00000262477.6 + 14 2296 c.2072T>C c.(2071-2073)gTg>gCg p.V691A NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000546142.2_Missense_Mutation_p.V691A|RABEP1_ENST00000537505.1_Missense_Mutation_p.V648A|RABEP1_ENST00000408982.2_Missense_Mutation_p.V691A|RABEP1_ENST00000341923.6_Missense_Mutation_p.V691A NM_004703.4 NP_004694.2 Q15276 RABE1_HUMAN rabaptin, RAB GTPase binding effector protein 1 691 apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome growth factor activity|GTPase activator activity|protein homodimerization activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 8 ATCATTAATGTGCGGACAGCA 0.398000 112 232 0 0 0.870114 0 0 LPIN3 64900 broad.mit.edu 37 20 39978750 39978750 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr20:39978750C>T ENST00000373257.3 + 7 906 c.815C>T c.(814-816)gCa>gTa p.A272V NM_022896.1 NP_075047.1 Q9BQK8 LPIN3_HUMAN lipin 3 272 fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) AGAGCTGGGGCAACCTCTCCT 0.627000 5 22 0 0 0.248553 0 0 DCST2 127579 broad.mit.edu 37 1 154997047 154997047 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:154997047A>G ENST00000368424.3 - 11 1701 c.1643T>C c.(1642-1644)cTg>cCg p.L548P DCST2_ENST00000295536.5_Missense_Mutation_p.L548P NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 548 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TCGGCGGCTCAGAAGTACATT 0.612000 12 27 0 0 0.557998 0 0 CD4 920 broad.mit.edu 37 12 6924067 6924067 + Silent SNP T T A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:6924067T>A ENST00000011653.4 + 5 774 c.516T>A c.(514-516)tcT>tcA p.S172S CD4_ENST00000541982.1_Silent_p.S117S|CD4_ENST00000538827.1_3'UTR NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2 NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1 P01730 CD4_HUMAN CD4 molecule 172 Ig-like C2-type 1. cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 23 Myeloproliferative disorder(1001;0.0122) TCTCCGTGTCTCAGCTGGAGC 0.542000 19 45 0 0 0.539581 0 0 ANXA6 309 broad.mit.edu 37 5 150519732 150519732 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:150519732T>C ENST00000354546.5 - 3 318 c.91A>G c.(91-93)Act>Gct p.T31A ANXA6_ENST00000377751.5_Missense_Mutation_p.T31A|ANXA6_ENST00000523714.1_5'UTR|ANXA6_ENST00000356496.5_Missense_Mutation_p.T31A|ANXA6_ENST00000521512.1_Missense_Mutation_p.T31A NM_001155.4 NP_001146.2 P08133 ANXA6_HUMAN annexin A6 31 melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding endometrium(2)|kidney(1)|lung(9) 12 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCATGGCAGTGTACAGAGCC 0.577000 7 25 0 0 0.335167 0 0 LNPEP 4012 broad.mit.edu 37 5 96350727 96350727 + Silent SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:96350727C>A ENST00000231368.5 + 13 2996 c.2304C>A c.(2302-2304)gcC>gcA p.A768A LNPEP_ENST00000395770.3_Silent_p.A754A NM_005575.2 NP_005566.2 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase 768 cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 34 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) TCACCGAAGCCCTGTTTCAGA 0.443000 71 119 1.35869e-18 1.47454e-18 0.870114 1 0 DMWD 1762 broad.mit.edu 37 19 46290079 46290079 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:46290079C>T ENST00000270223.6 - 3 720 c.675G>A c.(673-675)tcG>tcA p.S225S DMWD_ENST00000377735.3_Silent_p.S225S NM_004943.1 NP_004934.1 Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 225 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) ACAGGCTCTCCGACTCAGGCA 0.612000 7 11 0 0 0.335167 0 0 OR10G8 219869 broad.mit.edu 37 11 123900583 123900583 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:123900583T>C ENST00000431524.1 + 1 287 c.254T>C c.(253-255)tTc>tCc p.F85S NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) ACTTTGGTGTTCCCAAGTGGC 0.522000 9 97 0 0 0.859065 0 0 CSGALNACT1 55790 broad.mit.edu 37 8 19363023 19363023 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:19363023A>G ENST00000454498.2 - 4 1336 c.323T>C c.(322-324)cTg>cCg p.L108P CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.L108P|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.L108P|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.L108P|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.L108P NM_001130518.1 NP_001123990.1 Q8TDX6 CGAT1_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 1 108 anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(111;0.182) GCTCCTGTCCAGACCCAGGCC 0.627000 32 49 0 0 0.779181 0 0 EPHB6 2051 broad.mit.edu 37 7 142561951 142561951 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:142561951C>T ENST00000392957.2 + 7 1180 c.393C>T c.(391-393)taC>taT p.Y131Y EPHB6_ENST00000442129.1_Silent_p.Y131Y|EPHB6_ENST00000411471.2_Intron NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 131 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) TCACCCTTTACTACCGTCAGG 0.632000 31 45 0 0 0.812448 0 0 KIF1B 23095 broad.mit.edu 37 1 10384065 10384065 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:10384065G>A ENST00000377086.1 + 25 2684 c.2482G>A c.(2482-2484)Gaa>Aaa p.E828K KIF1B_ENST00000263934.6_Missense_Mutation_p.E782K|KIF1B_ENST00000377081.1_Missense_Mutation_p.E828K O60333 KIF1B_HUMAN kinesin family member 1B 828 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GGTAGCAGTAGAAGTCCAGGA 0.423000 6 111 0 0 0.248553 0 0 ZNF98 148198 broad.mit.edu 37 19 22574543 22574543 + Silent SNP A A G rs74169607 TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:22574543A>G ENST00000357774.5 - 4 1615 c.1494T>C c.(1492-1494)gcT>gcC p.A498A NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 498 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A498A(2) central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) ACTGGTTAAAAGCTTTGCCAC 0.398000 6 175 0 0 0.248553 0 0 IFNA7 3444 broad.mit.edu 37 9 21201942 21201942 + Missense_Mutation SNP G G T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr9:21201942G>T ENST00000239347.3 - 1 262 c.223C>A c.(223-225)Caa>Aaa p.Q75K NM_021057.2 NP_066401.2 P01567 IFNA7_HUMAN interferon, alpha 7 75 blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6) 12 GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) GAGATGGCTTGAGTCTTCTGG 0.483000 89 69 2.37326e-55 2.66873e-55 0.870114 1 0 ADD2 119 broad.mit.edu 37 2 70910816 70910816 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:70910816G>A ENST00000264436.3 - 10 1476 c.1032C>T c.(1030-1032)tcC>tcT p.S344S ADD2_ENST00000430656.1_Silent_p.S360S|ADD2_ENST00000413157.2_Silent_p.S344S|ADD2_ENST00000355733.3_Silent_p.S344S|ADD2_ENST00000407644.2_Silent_p.S344S NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) 344 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 CCCACTGCACGGAGCCCACCT 0.622000 12 41 0 0 0.411799 0 0 TUBB 203068 broad.mit.edu 37 6 30691481 30691481 + Silent SNP T T A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:30691481T>A ENST00000396389.1 + 4 1181 c.588T>A c.(586-588)acT>acA p.T196T TUBB_ENST00000396384.1_Silent_p.T142T|TUBB_ENST00000330914.3_Silent_p.T142T|XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000435534.1_Intron|TUBB_ENST00000327892.8_Silent_p.T214T P07437 TBB5_HUMAN tubulin, beta class I 214 cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization cytosol|microtubule GTP binding|GTPase activity|MHC class I protein binding breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1) 16 Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361) GCTTCCGCACTCTGAAGCTGA 0.537000 41 91 0 0 0.827153 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77331297 77331297 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:77331297T>C ENST00000282849.5 - 18 3108 c.2690A>G c.(2689-2691)aAg>aGg p.K897R NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 897 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 GCAAATGGCCTTTACATTTAT 0.373000 79 151 0 0 0.870114 0 0 ZBED4 9889 broad.mit.edu 37 22 50280639 50280639 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr22:50280639C>A ENST00000216268.4 + 2 3806 c.3329C>A c.(3328-3330)tCc>tAc p.S1110Y NM_014838.2 NP_055653.2 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 1110 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) AAGAAGGCGTCCTGGCCGGGG 0.582000 16 14 4.7546e-09 4.9861e-09 0.500413 1 0 MERTK 10461 broad.mit.edu 37 2 112751965 112751965 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:112751965A>G ENST00000295408.4 + 9 1691 c.1434A>G c.(1432-1434)atA>atG p.I478M MERTK_ENST00000421804.2_Missense_Mutation_p.I478M|MERTK_ENST00000409780.1_Missense_Mutation_p.I302M Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 478 Fibronectin type-III 2. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 CAGTGAAAATATTTATCCCTG 0.527000 56 137 0 0 0.870114 0 0 ATAD2B 54454 broad.mit.edu 37 2 23977158 23977158 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:23977158A>G ENST00000238789.5 - 27 4569 c.4226T>C c.(4225-4227)gTg>gCg p.V1409A ATAD2B_ENST00000474583.1_5'UTR NM_001242338.1|NM_017552.2 NP_001229267.1|NP_060022.1 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 1409 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTTTTATCCACCAACAAATC 0.313000 5 13 0 0 0.217242 0 0 PIGO 84720 broad.mit.edu 37 9 35090187 35090187 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr9:35090187G>A ENST00000378617.3 - 9 3339 c.2945C>T c.(2944-2946)gCc>gTc p.A982V PIGO_ENST00000341666.3_Missense_Mutation_p.A982V|PIGO_ENST00000298004.5_Missense_Mutation_p.A565V|PIGO_ENST00000361778.2_Missense_Mutation_p.A565V NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 982 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) TCTGACTCTGGCATCAGCTTC 0.607000 5 60 0 0 0.184627 0 0 TRMT1 55621 broad.mit.edu 37 19 13220782 13220782 + Silent SNP G G A rs139341662 byFrequency TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:13220782G>A ENST00000592062.1 - 10 1623 c.1053C>T c.(1051-1053)tgC>tgT p.C351C TRMT1_ENST00000221504.8_Intron|TRMT1_ENST00000357720.4_Silent_p.C351C|TRMT1_ENST00000437766.1_Silent_p.C351C Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae) 351 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) GGAAGGCCCCGCAGCCCACAC 0.642000 24 62 0 0 0.779181 0 0 ATP13A3 79572 broad.mit.edu 37 3 194151926 194151926 + Missense_Mutation SNP G G T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:194151926G>T ENST00000439040.1 - 23 3242 c.2451C>A c.(2449-2451)agC>agA p.S817R ATP13A3_ENST00000256031.4_Missense_Mutation_p.S817R Q9H7F0 AT133_HUMAN ATPase type 13A3 817 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) GATCCTCTAAGCTATCATGGA 0.343000 5 276 0.0293803 0.0296985 0.248553 1 0 HDAC9 9734 broad.mit.edu 37 7 18705937 18705937 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:18705937G>A ENST00000406451.3 + 12 1710 c.1560G>A c.(1558-1560)gcG>gcA p.A520A HDAC9_ENST00000405010.3_Silent_p.A520A|HDAC9_ENST00000456174.2_Silent_p.A492A|HDAC9_ENST00000401921.1_Silent_p.A479A|HDAC9_ENST00000417496.2_Silent_p.A518A|HDAC9_ENST00000524023.1_Silent_p.A443A|HDAC9_ENST00000428307.2_Silent_p.A476A|HDAC9_ENST00000441542.2_Silent_p.A523A|HDAC9_ENST00000406072.1_Silent_p.A507A|HDAC9_ENST00000432645.2_Silent_p.A520A NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 520 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) AAGACAGAGCGCCCTCTAGTG 0.542000 OREG0017877 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 72 0 0 0.819951 0 0 DMBX1 127343 broad.mit.edu 37 1 46972769 46972769 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:46972769G>A ENST00000371956.4 + 1 102 c.87G>A c.(85-87)caG>caA p.Q29Q DMBX1_ENST00000360032.3_Silent_p.Q29Q NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 29 Interacts with OXT2 and is required for repressor activity (By similarity). brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) AGGCAGCCCAGCAGGCCCAGC 0.642000 18 18 0 0 0.539581 0 0 NECAB2 54550 broad.mit.edu 37 16 84031849 84031849 + Missense_Mutation SNP G G A rs147666898 TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:84031849G>A ENST00000565691.1 + 8 1362 c.640G>A c.(640-642)Gag>Aag p.E214K NECAB2_ENST00000567703.1_3'UTR|NECAB2_ENST00000305202.4_Missense_Mutation_p.E297K Q7Z6G3 NECA2_HUMAN N-terminal EF-hand calcium binding protein 2 297 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity|protein binding endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 CGTGTGCCCCGAGCAACTGAG 0.652000 14 24 0 0 0.500413 0 0 PLB1 151056 broad.mit.edu 37 2 28841245 28841245 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:28841245C>T ENST00000422425.2 + 45 3305 c.3261C>T c.(3259-3261)gcC>gcT p.A1087A PLB1_ENST00000327757.5_Silent_p.A1098A|PLB1_ENST00000541605.1_Silent_p.A63A NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 1098 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) AAGTGGTGGCCGCCCTGGGTG 0.582000 5 75 0 0 0.217242 0 0 F8 2157 broad.mit.edu 37 X 154158320 154158320 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chrX:154158320G>A ENST00000360256.4 - 14 3945 c.3745C>T c.(3745-3747)Ctg>Ttg p.L1249L NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1249 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) CTAGTGCTCAGTAAGAAAAGG 0.348000 30 82 0 0 0.760397 0 0 FTSJ3 117246 broad.mit.edu 37 17 61898462 61898462 + Missense_Mutation SNP G G A rs145334305 TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:61898462G>A ENST00000427159.2 - 17 2545 c.1900C>T c.(1900-1902)Cgt>Tgt p.R634C NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 634 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 TTCTTACCACGGAGGGGTTCC 0.532000 32 65 0 0 0.788014 0 0 SLC26A9 115019 broad.mit.edu 37 1 205888081 205888081 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:205888081C>T ENST00000367135.3 - 19 2256 c.2143G>A c.(2143-2145)Gtc>Atc p.V715I SLC26A9_ENST00000340781.4_Missense_Mutation_p.V715I|SLC26A9_ENST00000367134.2_Missense_Mutation_p.V715I NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 715 STAS. integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) TCCTCAAAGACGCCTCCATGG 0.512000 OREG0014164 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 513 0 0 0.278610 0 0 GRM3 2913 broad.mit.edu 37 7 86468878 86468878 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:86468878T>C ENST00000361669.2 + 4 3147 c.2048T>C c.(2047-2049)aTc>aCc p.I683T GRM3_ENST00000536043.1_Missense_Mutation_p.I555T|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.I275T NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 683 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CCAAAATTCATCAGCCCCAGT 0.542000 52 93 0 0 0.870114 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33564206 33564206 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:33564206A>G ENST00000321505.4 + 1 386 c.206A>G c.(205-207)cAg>cGg p.Q69R KIAA1549L_ENST00000389726.3_Missense_Mutation_p.Q69R|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.Q69R KIAA1549-like AGTCTTCTTCAGCTTCCAGAT 0.562000 27 61 0 0 0.769981 0 0 ZNF687 57592 broad.mit.edu 37 1 151259818 151259818 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:151259818T>C ENST00000368879.2 + 2 1149 c.1051T>C c.(1051-1053)Tca>Cca p.S351P NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 351 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) TCAGGTCCCCTCAGATCCTGA 0.557000 26 42 0 0 0.681144 0 0 IGHG4 3503 broad.mit.edu 37 14 106091234 106091234 + RNA SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr14:106091234T>C ENST00000390543.2 - 0 659 GGGTCCCACCTTTGGCTTTGG 0.622000 106 192 0 0 0.870114 0 0 EXD3 54932 broad.mit.edu 37 9 140243598 140243598 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr9:140243598G>A ENST00000340951.4 - 16 1989 c.1794C>T c.(1792-1794)ggC>ggT p.G598G EXD3_ENST00000342129.4_Silent_p.G278G NM_017820.3 NP_060290.3 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 598 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 CTTTCTGCAGGCCGGGTGGCT 0.667000 4 4 0 0 0.248553 0 0 CATSPERG 57828 broad.mit.edu 37 19 38853150 38853150 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:38853150T>C ENST00000409235.3 + 19 2407 c.2292T>C c.(2290-2292)acT>acC p.T764T CATSPERG_ENST00000410018.1_Silent_p.T724T|CATSPERG_ENST00000215069.4_3'UTR NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 764 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 ACAAGGGCACTGAGTACAGCT 0.627000 23 60 0 0 0.717897 0 0 SEC13 6396 broad.mit.edu 37 3 10346828 10346828 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:10346828G>A ENST00000397117.1 - 7 1146 c.555C>T c.(553-555)gaC>gaT p.D185D SEC13_ENST00000383801.2_Silent_p.D245D|SEC13_ENST00000350697.3_Silent_p.D199D|SEC13_ENST00000397109.3_Silent_p.D185D|SEC13_ENST00000337354.4_Silent_p.D202D P55735 SEC13_HUMAN SEC13 homolog (S. cerevisiae) 199 COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex protein binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 17 TCCACTGGCCGTCCTCCTCCT 0.632000 22 12 0 0 0.706142 0 0 SRCIN1 80725 broad.mit.edu 37 17 36705381 36705381 + Missense_Mutation SNP G G T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:36705381G>T ENST00000264659.7 - 16 3252 c.3028C>A c.(3028-3030)Cgc>Agc p.R1010S SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.R1044S NM_025248.2 NP_079524.2 Q9C0H9 SRCN1_HUMAN SRC kinase signaling inhibitor 1 882 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 AAGCTCCGGCGGGGAGGGGGC 0.662000 10 18 5.16669e-11 5.46602e-11 0.387290 1 0 SNAP91 9892 broad.mit.edu 37 6 84302944 84302944 + Silent SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:84302944C>A ENST00000428679.2 - 19 2324 c.1731G>T c.(1729-1731)gcG>gcT p.A577A SNAP91_ENST00000369694.2_Silent_p.A577A|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000521485.1_Silent_p.A577A|SNAP91_ENST00000195649.6_Silent_p.A577A|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000439399.2_Silent_p.A577A|SNAP91_ENST00000521743.1_Silent_p.A577A|SNAP91_ENST00000520302.1_Silent_p.A575A O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 577 Ala-rich. 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) CTGGCTTAGGCGCTGCAGCAA 0.413000 3 11 0.217242 0.218282 0.217242 1 0 TNXB 7148 broad.mit.edu 37 6 32015543 32015543 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:32015543C>T ENST00000375244.3 - 30 10493 c.10292G>A c.(10291-10293)cGa>cAa p.R3431Q TNXB_ENST00000375247.2_Missense_Mutation_p.R3429Q P22105 TENX_HUMAN tenascin XB 3476 Fibronectin type-III 26. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GGGGCCCAGTCGTTTCCTGCC 0.622000 20 25 0 0 0.608945 0 0 NOC3L 64318 broad.mit.edu 37 10 96116290 96116290 + Splice_Site SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:96116290A>G ENST00000371361.3 - 5 666 c.e5+1 NOC3L_ENST00000371350.1_Splice_Site|NOC3L_ENST00000463649.1_Splice_Site NM_022451.9 NP_071896.8 Q8WTT2 NOC3L_HUMAN nucleolar complex associated 3 homolog (S. cerevisiae) nuclear speck|nucleolus binding endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1) 29 Colorectal(252;0.0897) AAGACATATTACCTTCCTCAA 0.284000 108 207 0 0 0.870114 0 0 SOS2 6655 broad.mit.edu 37 14 50666497 50666497 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr14:50666497A>G ENST00000216373.5 - 4 696 c.422T>C c.(421-423)aTt>aCt p.I141T SOS2_ENST00000543680.1_Missense_Mutation_p.I141T NM_006939.2 NP_008870.2 Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) 141 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) CAATTTTAAAATATCAGCTGA 0.328000 195 93 0 0 0.870114 0 0 SYVN1 84447 broad.mit.edu 37 11 64898665 64898665 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:64898665C>T ENST00000526060.1 - 9 954 c.762G>A c.(760-762)caG>caA p.Q254Q SYVN1_ENST00000377190.3_Silent_p.Q254Q|SYVN1_ENST00000307289.6_Silent_p.Q203Q|SYVN1_ENST00000294256.8_Silent_p.Q254Q|SYVN1_ENST00000526121.1_5'UTR Q86TM6 SYVN1_HUMAN synovial apoptosis inhibitor 1, synoviolin 254 Interaction with p53/TP53. ER-associated protein catabolic process|response to stress endoplasmic reticulum membrane|integral to membrane|nucleus acid-amino acid ligase activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 CTTTCTTGAACTGTCTGAAAG 0.572000 14 26 0 0 0.435327 0 0 PSMD11 5717 broad.mit.edu 37 17 30800953 30800953 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:30800953A>G ENST00000261712.3 + 7 1041 c.778A>G c.(778-780)Atg>Gtg p.M260V PSMD11_ENST00000457654.2_Missense_Mutation_p.M260V NM_001270482.1|NM_002815.3 NP_001257411.1|NP_002806.2 O00231 PSD11_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 260 PCI. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 19 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.109) GTGCAAAATCATGCTCAACAC 0.483000 44 102 0 0 0.853193 0 0 HBE1 3046 broad.mit.edu 37 11 5291119 5291119 + Translation_Start_Site SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:5291119A>G ENST00000380237.1 - 3 346 c.2T>C c.(1-3)aTg>aCg p.M1T HBE1_ENST00000292896.2_Start_Codon_SNP_p.M1T|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron P02100 HBE_HUMAN hemoglobin, epsilon 1 1 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAAATGCACCATGATGCCAGG 0.522000 5 44 0 0 0.184627 0 0 SERPINI1 5274 broad.mit.edu 37 3 167508322 167508322 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:167508322A>G ENST00000295777.5 + 3 844 c.413A>G c.(412-414)cAt>cGt p.H138R SERPINI1_ENST00000446050.2_Missense_Mutation_p.H138R NM_005025.4 NP_005016.1 Q99574 NEUS_HUMAN serpin peptidase inhibitor, clade I (neuroserpin), member 1 138 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 GCAGTAAATCATGTGGACTTC 0.363000 33 105 0 0 0.750413 0 0 SMARCA4 6597 broad.mit.edu 37 19 11143964 11143964 + Splice_Site SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:11143964A>G ENST00000358026.2 + 26 3830 c.e26-1 SMARCA4_ENST00000541122.2_Splice_Site|SMARCA4_ENST00000450717.3_Splice_Site|SMARCA4_ENST00000444061.3_Splice_Site|SMARCA4_ENST00000413806.3_Splice_Site|SMARCA4_ENST00000589677.1_Splice_Site|SMARCA4_ENST00000344626.4_Splice_Site|SMARCA4_ENST00000429416.3_Splice_Site|SMARCA4_ENST00000590574.1_Splice_Site NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) CTCTTCCCCCAGGACCTGCAA 0.627000 """F, N, Mis""" NSCLC 24 23 0 0 0.681144 0 0 MYO3B 140469 broad.mit.edu 37 2 171092598 171092598 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:171092598C>A ENST00000334231.6 + 7 728 c.728C>A c.(727-729)cCt>cAt p.P243H MYO3B_ENST00000408978.4_Missense_Mutation_p.P234H|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.P234H Q8WXR4 MYO3B_HUMAN myosin IIIB 234 Protein kinase. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GATGGAGACCCTCCCCTCTTT 0.488000 OREG0014376 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 81 151 1.21826e-31 1.35362e-31 0.870114 1 0 IL6R 3570 broad.mit.edu 37 1 154408588 154408588 + Splice_Site SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:154408588T>C ENST00000368485.3 + 6 1386 c.e6+2 IL6R_ENST00000344086.4_Splice_Site|IL6R_ENST00000507256.1_Intron NM_000565.3 NP_000556.1 P08887 IL6RA_HUMAN interleukin 6 receptor acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity IL6R/ATP8B2(2) breast(2)|large_intestine(1)|ovary(3) 6 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CTTGGACAGGTACTGCGGTGG 0.587000 3 33 0 0 0.115264 0 0 MRC1 4360 broad.mit.edu 37 10 18122710 18122710 + Nonsense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:18122710G>A ENST00000239761.3 + 4 823 c.720G>A c.(718-720)tgG>tgA p.W240* NM_002438.2 NP_002429.1 P22897 MRC1_HUMAN mannose receptor, C type 1 240 C-type lectin 1. receptor-mediated endocytosis endosome membrane|integral to plasma membrane mannose binding|receptor activity breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1) 6 CTTTAACGTGGCACCAAGCGA 0.463000 5 270 0 0 0.184627 0 0 CCT8 10694 broad.mit.edu 37 21 30439048 30439048 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr21:30439048A>G ENST00000286788.4 - 6 819 c.613T>C c.(613-615)Tgt>Cgt p.C205R CCT8_ENST00000540844.1_Missense_Mutation_p.C132R|CCT8_ENST00000542732.1_Missense_Mutation_p.C186R|CCT8_ENST00000470450.1_5'UTR NM_006585.2 NP_006576.2 P50990 TCPQ_HUMAN chaperonin containing TCP1, subunit 8 (theta) 205 'de novo' posttranslational protein folding aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center ATP binding|ATPase activity, coupled|unfolded protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3) 14 AGAATTTTACAAACTCTGATG 0.289000 47 64 0 0 0.870114 0 0 GRK6 2870 broad.mit.edu 37 5 176868029 176868029 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:176868029T>C ENST00000355472.5 + 15 1820 c.1652T>C c.(1651-1653)cTg>cCg p.L551P PRR7-AS1_ENST00000425316.3_RNA|GRK6_ENST00000393576.3_Missense_Mutation_p.L517P|GRK6_ENST00000355958.5_Missense_Mutation_p.L551P|GRK6_ENST00000528793.1_Missense_Mutation_p.L551P NM_001004106.2|NM_002082.3 NP_001004106.1|NP_002073.2 P43250 GRK6_HUMAN G protein-coupled receptor kinase 6 551 regulation of G-protein coupled receptor protein signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1) 25 all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) 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) AAAAAGGGACTGCTGCAGAGA 0.627000 6 19 0 0 0.307466 0 0 CORO1B 57175 broad.mit.edu 37 11 67207642 67207642 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:67207642A>G ENST00000393893.1 - 9 1057 c.954T>C c.(952-954)ggT>ggC p.G318G CORO1B_ENST00000341356.5_Silent_p.G318G|CORO1B_ENST00000539724.1_5'UTR NM_001018070.2 NP_001018080.1 Q9BR76 COR1B_HUMAN coronin, actin binding protein, 1B 318 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin filament binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) TGCTGCCCATACCCCGCTGCG 0.612000 34 60 0 0 0.804634 0 0 NFATC1 4772 broad.mit.edu 37 18 77193724 77193724 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr18:77193724C>A ENST00000253506.5 + 3 1741 c.1372C>A c.(1372-1374)Cac>Aac p.H458N NFATC1_ENST00000586434.1_Missense_Mutation_p.H445N|NFATC1_ENST00000329101.4_Missense_Mutation_p.H445N|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000542384.1_Missense_Mutation_p.H458N|NFATC1_ENST00000427363.2_Missense_Mutation_p.H458N|NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000587635.1_Missense_Mutation_p.H458N|NFATC1_ENST00000318065.5_Missense_Mutation_p.H445N|NFATC1_ENST00000592223.1_Missense_Mutation_p.H445N|NFATC1_ENST00000591814.1_Missense_Mutation_p.H458N NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 458 RHD. intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) GGCCGGAGGACACCCCATCGT 0.612000 27 45 4.3181e-19 4.70454e-19 0.769981 1 0 SERPIND1 3053 broad.mit.edu 37 22 21140426 21140426 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr22:21140426C>T ENST00000215727.5 + 4 1581 c.1298C>T c.(1297-1299)gCc>gTc p.A433V SERPIND1_ENST00000406799.1_Missense_Mutation_p.A433V|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron NM_000185.3 NP_000176.2 P05546 HEP2_HUMAN serpin peptidase inhibitor, clade D (heparin cofactor), member 1 433 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-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) Ardeparin(DB00407) CAAAGGATCGCCATCGACCTG 0.567000 60 70 0 0 0.870114 0 0 NR3C2 4306 broad.mit.edu 37 4 149075708 149075708 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr4:149075708G>A ENST00000355292.3 - 5 2733 c.2371C>T c.(2371-2373)Ctt>Ttt p.L791F NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000511528.1_Missense_Mutation_p.L791F|NR3C2_ENST00000344721.4_Missense_Mutation_p.L787F|NR3C2_ENST00000358102.3_Missense_Mutation_p.L787F|NR3C2_ENST00000342437.4_Intron|RP11-76G10.1_ENST00000514843.1_RNA P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 787 Steroid-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) CTACCTGGAAGTACCTTTGCC 0.507000 4 132 0 0 0.150653 0 0 HIST1H2AC 8334 broad.mit.edu 37 6 26124633 26124633 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:26124633A>G ENST00000602637.1 + 1 203 c.173A>G c.(172-174)tAc>tGc p.Y58C HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.Y58C Q93077 H2A1C_HUMAN histone cluster 1, H2ac 58 nucleosome assembly nucleosome|nucleus DNA binding NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5) 12 GTGTTAGAGTACCTGACCGCC 0.667000 11 29 0 0 0.500413 0 0 GALNT15 117248 broad.mit.edu 37 3 16216674 16216674 + Nonsense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:16216674C>T ENST00000339732.5 + 1 519 c.16C>T c.(16-18)Cga>Tga p.R6* GALNT15_ENST00000437509.1_Nonsense_Mutation_p.R6* NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 CCTAAGGAAGCGATACAGGCA 0.542000 26 22 0 0 0.717897 0 0 RBM6 10180 broad.mit.edu 37 3 50005783 50005783 + Missense_Mutation SNP A A T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:50005783A>T ENST00000443081.1 + 3 1448 c.529A>T c.(529-531)Aat>Tat p.N177Y RBM6_ENST00000539992.1_Intron|RBM6_ENST00000266022.4_Missense_Mutation_p.N309Y|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000422955.1_Intron P78332 RBM6_HUMAN RNA binding motif protein 6 309 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) TTCTGGTATGAATGTGAACAG 0.408000 5 90 0 0 0.217242 0 0 DOPEY2 9980 broad.mit.edu 37 21 37591690 37591690 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr21:37591690T>C ENST00000399151.3 + 10 1235 c.1150T>C c.(1150-1152)Ttg>Ctg p.L384L NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 384 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GGTTGGGAATTTGTTTCTCGA 0.403000 174 318 0 0 0.870114 0 0 WTAP 9589 broad.mit.edu 37 6 160164822 160164822 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:160164822A>G ENST00000358372.4 + 5 2028 c.271A>G c.(271-273)Act>Gct p.T91A WTAP_ENST00000337387.4_Missense_Mutation_p.T91A|SOD2_ENST00000546087.1_Intron NM_001270531.1|NM_004906.4 NP_001257460.1|NP_004897.2 Q15007 FL2D_HUMAN Wilms tumor 1 associated protein 91 cell cycle|mRNA processing|RNA splicing nuclear membrane|nucleolus central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 18 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) GCAAGAGTGTACTGTAAGTAT 0.338000 22 49 0 0 0.654019 0 0 MRPL32 64983 broad.mit.edu 37 7 42977150 42977150 + Missense_Mutation SNP G G A rs146917176 TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:42977150G>A ENST00000223324.2 + 3 729 c.542G>A c.(541-543)cGa>cAa p.R181Q MRPL32_ENST00000496564.1_Intron NM_031903.2 NP_114109.1 Q9BYC8 RM32_HUMAN mitochondrial ribosomal protein L32 181 translation large ribosomal subunit|mitochondrial ribosome structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(6) 10 GACAGAAAGCGACCATCCTGG 0.443000 31 43 0 0 0.760397 0 0 PLEC 5339 broad.mit.edu 37 8 144992015 144992015 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:144992015G>A ENST00000322810.4 - 32 12554 c.12385C>T c.(12385-12387)Cgt>Tgt p.R4129C PLEC_ENST00000527096.1_Missense_Mutation_p.R4015C|PLEC_ENST00000436759.2_Missense_Mutation_p.R4019C|PLEC_ENST00000357649.2_Missense_Mutation_p.R3996C|PLEC_ENST00000354589.3_Missense_Mutation_p.R3992C|PLEC_ENST00000345136.3_Missense_Mutation_p.R3992C|PLEC_ENST00000356346.3_Missense_Mutation_p.R3978C|PLEC_ENST00000354958.2_Missense_Mutation_p.R3970C|PLEC_ENST00000398774.2_Missense_Mutation_p.R3960C NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4129 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 ATGCCCATACGCACAGCCTCC 0.647000 15 31 0 0 0.520397 0 0 UBAP2L 9898 broad.mit.edu 37 1 154227752 154227752 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:154227752C>T ENST00000428931.1 + 17 2201 c.2034C>T c.(2032-2034)ggC>ggT p.G678G UBAP2L_ENST00000271877.7_Silent_p.G689G|UBAP2L_ENST00000361546.2_Silent_p.G678G|UBAP2L_ENST00000343815.6_Silent_p.G678G NM_014847.3 NP_055662.3 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like 678 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) CCTTGGGTGGCTTGAGCCACA 0.493000 40 191 0 0 0.840704 0 0 RBM12B 389677 broad.mit.edu 37 8 94745931 94745931 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:94745931A>G ENST00000399300.2 - 3 2921 c.2708T>C c.(2707-2709)aTg>aCg p.M903T RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.M783T NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 903 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) AAAACTTCCCATATTATGCTT 0.398000 161 272 0 0 0.870114 0 0 RPTOR 57521 broad.mit.edu 37 17 78704364 78704364 + Missense_Mutation SNP A A C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:78704364A>C ENST00000306801.3 + 5 874 c.512A>C c.(511-513)tAc>tCc p.Y171S RPTOR_ENST00000537330.1_5'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.Y171S|RPTOR_ENST00000570891.1_Missense_Mutation_p.Y171S NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 171 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 TTCTAGAACTACACGCAGTAC 0.512000 35 82 0 0 0.796494 0 0 RAB1A 5861 broad.mit.edu 37 2 65316203 65316203 + Splice_Site SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:65316203T>C ENST00000409784.3 - 5 480 c.288_splice c.e5-1 p.E97_splice RAB1A_ENST00000409751.1_Splice_Site_p.E65_splice|RAB1A_ENST00000494188.1_Intron|RAB1A_ENST00000260638.8_Intron|RAB1A_ENST00000398529.3_Intron|RAB1A_ENST00000409892.1_Splice_Site_p.E33_splice|RAB1A_ENST00000356214.7_Splice_Site_p.E65_splice NM_004161.4 NP_004152.1 P62820 RAB1A_HUMAN RAB1A, member RAS oncogene family 97 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport endoplasmic reticulum|Golgi apparatus GTP binding|GTPase activity endometrium(1)|kidney(1)|lung(3)|prostate(1) 6 ATTGAAGGACTCCTAAAAAGA 0.353000 8 33 0 0 0.335167 0 0 AP1G1 164 broad.mit.edu 37 16 71767002 71767002 + Missense_Mutation SNP G G T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:71767002G>T ENST00000299980.4 - 23 2869 c.2428C>A c.(2428-2430)Cta>Ata p.L810I AP1G1_ENST00000569748.1_Missense_Mutation_p.L810I|AP1G1_ENST00000564155.1_Missense_Mutation_p.L235I|AP1G1_ENST00000423132.2_Missense_Mutation_p.L813I|AP1G1_ENST00000393512.3_Missense_Mutation_p.L813I|AP1G1_ENST00000433195.2_Missense_Mutation_p.L833I NM_001128.5 NP_001119.3 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit 810 GAE. endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) ACCTCTGCTAGATCTTGCATT 0.438000 32 65 6.19805e-25 6.8057e-25 0.812448 1 0 NIPAL2 79815 broad.mit.edu 37 8 99217418 99217418 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:99217418T>C ENST00000341166.3 - 7 967 c.712A>G c.(712-714)Atg>Gtg p.M238V NIPAL2_ENST00000430223.2_Missense_Mutation_p.M238V|NIPAL2_ENST00000520545.1_5'UTR NM_024759.1 NP_079035.1 Q9H841 NPAL2_HUMAN NIPA-like domain containing 2 238 integral to membrane cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1) 12 ATTTTATCCATCACAGAAAAA 0.333000 34 62 0 0 0.760397 0 0 CASS4 57091 broad.mit.edu 37 20 55027381 55027381 + Nonsense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr20:55027381G>A ENST00000371336.3 + 5 1350 c.1149G>A c.(1147-1149)tgG>tgA p.W383* CASS4_ENST00000360314.3_Nonsense_Mutation_p.W383*|CASS4_ENST00000434344.1_Intron NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 383 Ser-rich. cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 ATTCCTCATGGTTCTCCAGAC 0.522000 22 48 0 0 0.706142 0 0 NR6A1 2649 broad.mit.edu 37 9 127298227 127298227 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr9:127298227T>C ENST00000487099.2 - 7 1166 c.1009A>G c.(1009-1011)Agc>Ggc p.S337G NR6A1_ENST00000344523.4_Missense_Mutation_p.S336G|NR6A1_ENST00000373584.3_Missense_Mutation_p.S333G|NR6A1_ENST00000416460.2_Missense_Mutation_p.S332G NM_001278546.1 NP_001265475.1 Q15406 NR6A1_HUMAN nuclear receptor subfamily 6, group A, member 1 337 cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 17 ATCTGCTTGCTGTAAACGGTG 0.532000 13 114 0 0 0.457914 0 0 ATP1B4 23439 broad.mit.edu 37 X 119509328 119509328 + Missense_Mutation SNP T T G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chrX:119509328T>G ENST00000218008.3 + 5 721 c.664T>G c.(664-666)Ttt>Gtt p.F222V ATP1B4_ENST00000539306.1_Missense_Mutation_p.F179V|ATP1B4_ENST00000361319.3_Missense_Mutation_p.F218V NM_001142447.2 NP_001135919.1 Q9UN42 AT1B4_HUMAN ATPase, Na+/K+ transporting, beta 4 polypeptide 222 ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 33 GGCCTGCCAATTTAAGCGCTC 0.468000 118 100 0 0 0.870114 0 0 CDK12 51755 broad.mit.edu 37 17 37619372 37619372 + Splice_Site SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:37619372T>C ENST00000447079.4 + 1 1079 c.e1+2 CDK12_ENST00000430627.2_Splice_Site NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 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 ACTCCCCAGGTGAGCTATTTG 0.552000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 26 60 0 0 0.681144 0 0 KMT2C 58508 broad.mit.edu 37 7 151859636 151859636 + Missense_Mutation SNP G G C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:151859636G>C ENST00000355193.2 - 43 11244 c.11026C>G c.(11026-11028)Cta>Gta p.L3676V KMT2C_ENST00000262189.6_Missense_Mutation_p.L3676V lysine (K)-specific methyltransferase 2C TCTGTACATAGCTGGCCTGCT 0.488000 94 139 0 0 0.870114 0 0 ENOSF1 55556 broad.mit.edu 37 18 697349 697349 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr18:697349C>T ENST00000251101.7 - 3 288 c.200G>A c.(199-201)tGt>tAt p.C67Y ENOSF1_ENST00000539164.1_Missense_Mutation_p.C67Y|ENOSF1_ENST00000340116.7_Missense_Mutation_p.C88Y|ENOSF1_ENST00000383578.3_Intron|ENOSF1_ENST00000580982.1_Intron NM_017512.5 NP_059982.2 Q7L5Y1 ENOF1_HUMAN enolase superfamily member 1 67 cellular amino acid catabolic process mitochondrion isomerase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 10 ATTCACAGCACAGACAACTAT 0.418000 123 187 0 0 0.870114 0 0 CYFIP1 23191 broad.mit.edu 37 15 22955133 22955133 + Splice_Site SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr15:22955133T>C ENST00000313077.7 + 15 1652 c.1526_splice c.e15-1 p.S509_splice CYFIP1_ENST00000560848.1_Splice_Site_p.S509_splice NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 509 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 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;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) GGGTGTTCAGTGTCCTGCAGG 0.602000 10 88 0 0 0.335167 0 0 MYH7B 57644 broad.mit.edu 37 20 33565798 33565798 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr20:33565798G>A ENST00000262873.7 + 3 208 c.116G>A c.(115-117)aGt>aAt p.S39N NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 0 membrane|myosin filament actin binding|ATP binding|motor activity p.S39N(1) NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) CTTCACCCCAGTGCCACTGCC 0.602000 6 197 0 0 0.278610 0 0 MAP3K3 4215 broad.mit.edu 37 17 61766161 61766161 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:61766161A>G ENST00000361357.3 + 11 1202 c.884A>G c.(883-885)cAg>cGg p.Q295R MAP3K3_ENST00000584573.1_Missense_Mutation_p.Q291R|MAP3K3_ENST00000577784.1_3'UTR|MAP3K3_ENST00000579585.1_Missense_Mutation_p.Q295R|MAP3K3_ENST00000577395.1_Missense_Mutation_p.Q260R|MAP3K3_ENST00000361733.3_Missense_Mutation_p.Q264R NM_203351.1 NP_976226.1 Q99759 M3K3_HUMAN mitogen-activated protein kinase kinase kinase 3 264 MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation cytosol ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 28 CGGGAAACTCAGCTTTATGAC 0.537000 53 110 0 0 0.870114 0 0 DNAJB2 3300 broad.mit.edu 37 2 220149689 220149689 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:220149689T>C ENST00000336576.5 + 9 1243 c.955T>C c.(955-957)Tct>Cct p.S319P DNAJB2_ENST00000392086.4_Intron NM_006736.5 NP_006727.2 P25686 DNJB2_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 2 319 ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein inclusion body heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 Renal(207;0.0474) Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGAGAAGGCCTCTCGCTGCCT 0.617000 7 9 0 0 0.335167 0 0 FOXO3 2309 broad.mit.edu 37 6 108985226 108985226 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:108985226C>T ENST00000406360.1 + 2 1533 c.1190C>T c.(1189-1191)cCg>cTg p.P397L FOXO3_ENST00000343882.6_Missense_Mutation_p.P397L|FOXO3_ENST00000540898.1_Missense_Mutation_p.P177L NM_001455.3 NP_001446.1 O43524 FOXO3_HUMAN forkhead box O3 397 antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) ATCACGCTCCCGCCATCCCAG 0.592000 31 54 0 0 0.769981 0 0 ZNF217 7764 broad.mit.edu 37 20 52193033 52193033 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr20:52193033G>A ENST00000371471.2 - 4 2695 c.2270C>T c.(2269-2271)cCg>cTg p.P757L ZNF217_ENST00000302342.3_Missense_Mutation_p.P757L O75362 ZN217_HUMAN zinc finger protein 217 757 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) CAACGCTGGCGGGCATCCGGT 0.502000 39 54 0 0 0.853193 0 0 TBL3 10607 broad.mit.edu 37 16 2026055 2026055 + Splice_Site SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:2026055A>G ENST00000568546.1 + 12 1257 c.e12-1 NM_006453.2 NP_006444.2 Q12788 TBL3_HUMAN transducin (beta)-like 3 G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing nucleolus|small-subunit processome receptor signaling protein activity breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 18 ACAACATCTCAGATATCGTCC 0.642000 10 207 0 0 0.335167 0 0 DPAGT1 1798 broad.mit.edu 37 11 118971120 118971120 + Splice_Site SNP T T G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:118971120T>G ENST00000409993.2 - 6 2048 c.e6-2 DPAGT1_ENST00000354202.4_Splice_Site|DPAGT1_ENST00000432443.2_Splice_Site Q9H3H5 GPT_HUMAN dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization integral to endoplasmic reticulum membrane|microsome phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 17 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) ACAGGATTCCTGCGGGGAGAG 0.493000 OREG0021396 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 50 87 0 0 0.870114 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232650521 232650521 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:232650521G>A ENST00000366630.1 - 2 923 c.565C>T c.(565-567)Cac>Tac p.H189Y SIPA1L2_ENST00000262861.4_Missense_Mutation_p.H189Y Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 189 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TACTCCCTGTGCAGGGCAGCC 0.463000 92 173 0 0 0.870114 0 0 KNTC1 9735 broad.mit.edu 37 12 123087702 123087702 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:123087702G>A ENST00000333479.7 + 48 5190 c.5013G>A c.(5011-5013)acG>acA p.T1671T KNTC1_ENST00000537348.1_Silent_p.T96T|KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000450485.2_Intron NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 1671 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) CTAAGATCACGCAGACCATCG 0.433000 4 34 0 0 0.184627 0 0 PRPF8 10594 broad.mit.edu 37 17 1557299 1557299 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:1557299G>A ENST00000572621.1 - 37 6264 c.5999C>T c.(5998-6000)gCa>gTa p.A2000V PRPF8_ENST00000304992.6_Missense_Mutation_p.A2000V Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 2000 Involved in interaction with pre-mRNA 5' splice site. catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TGTCAGTGATGCCACGTTCAC 0.522000 86 218 0 0 0.870114 0 0 ZNF318 24149 broad.mit.edu 37 6 43306339 43306339 + Silent SNP G G C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:43306339G>C ENST00000361428.2 - 10 5474 c.5397C>G c.(5395-5397)acC>acG p.T1799T ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1799 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) GTCCAATGCTGGTACTTACTC 0.418000 45 97 0 0 0.864702 0 0 FAM78B 149297 broad.mit.edu 37 1 166135352 166135352 + Missense_Mutation SNP T T A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:166135352T>A ENST00000338353.3 - 2 723 c.134A>T c.(133-135)aAg>aTg p.K45M FAM78B_ENST00000354422.3_Missense_Mutation_p.K45M Q5VT40 FA78B_HUMAN family with sequence similarity 78, member B 45 central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155) GTAGGGGGTCTTGTAGCGCAG 0.652000 12 6 0 0 0.387290 0 0 MYH14 79784 broad.mit.edu 37 19 50774688 50774688 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:50774688C>T ENST00000440075.2 + 25 3103 c.3056C>T c.(3055-3057)gCt>gTt p.A1019V MYH14_ENST00000376970.2_Missense_Mutation_p.A1011V|MYH14_ENST00000262269.8_Missense_Mutation_p.A1019V|MYH14_ENST00000425460.1_Missense_Mutation_p.A986V|MYH14_ENST00000598205.1_Missense_Mutation_p.A986V|MYH14_ENST00000596571.1_Missense_Mutation_p.A978V|MYH14_ENST00000601313.1_Missense_Mutation_p.A1019V Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 978 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) CACCTTGAGGCTGAGGAGGGT 0.572000 5 10 0 0 0.217242 0 0 ESPN 83715 broad.mit.edu 37 1 6501114 6501114 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:6501114G>A ENST00000377828.1 + 5 1147 c.979G>A c.(979-981)Gtg>Atg p.V327M NM_031475.2 NP_113663.2 B1AK53 ESPN_HUMAN espin 327 sensory perception of sound brush border|cytoplasm|filamentous actin|stereocilium actin filament binding|SH3 domain binding NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1) 17 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392) Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419) CCTGCGCACGGTGGAGAACCT 0.652000 4 2 0 0 0.184627 0 0 GNAO1 2775 broad.mit.edu 37 16 56377829 56377829 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:56377829C>T ENST00000262494.7 + 8 1292 c.1032C>T c.(1030-1032)atC>atT p.I344I GNAO1_ENST00000262493.6_Intron NM_138736.2 NP_620073.2 P09471 GNAO_HUMAN guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O 344 dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1) 17 all_neural(199;0.159) ACGTCATCATCGCCAAAAACC 0.622000 20 44 0 0 0.654019 0 0 KIAA1244 57221 broad.mit.edu 37 6 138584306 138584306 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:138584306C>T ENST00000251691.4 + 12 1852 c.1686C>T c.(1684-1686)gtC>gtT p.V562V NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 562 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) AGCCAGATGTCGTGCAGAGAA 0.512000 5 40 0 0 0.217242 0 0 LAMB1 3912 broad.mit.edu 37 7 107576084 107576084 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:107576084T>C ENST00000393561.1 - 25 4220 c.4036A>G c.(4036-4038)Acc>Gcc p.T1346A LAMB1_ENST00000222399.6_Missense_Mutation_p.T1322A|LAMB1_ENST00000474380.1_5'UTR P07942 LAMB1_HUMAN laminin, beta 1 1322 Domain II. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AAATACTTGGTAATGCTATCC 0.493000 89 148 0 0 0.870114 0 0 HOXA9 3205 broad.mit.edu 37 7 27203284 27203284 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:27203284A>G ENST00000343483.6 - 2 829 c.757T>C c.(757-759)Tgg>Cgg p.W253R RP1-170O19.20_ENST00000465941.1_5'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.W93R|HOXA9_ENST00000497089.1_5'UTR|HOXA9_ENST00000396345.1_3'UTR NM_152739.3 NP_689952.1 P31269 HXA9_HUMAN homeobox A9 253 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1) 8 TTCTGGAACCAGATCTTGACC 0.478000 T """NUP98, MSI2""" AML* 41 90 0 0 0.870114 0 0 RBM11 54033 broad.mit.edu 37 21 15599295 15599295 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr21:15599295A>G ENST00000400577.3 + 5 536 c.527A>G c.(526-528)cAt>cGt p.H176R RBM11_ENST00000468643.1_3'UTR NM_144770.3 NP_658983.3 P57052 RBM11_HUMAN RNA binding motif protein 11 176 nucleotide binding|RNA binding endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) TCACTGAATCATGTTCCAGAT 0.453000 13 465 0 0 0.500413 0 0 PDXDC1 23042 broad.mit.edu 37 16 15126717 15126717 + Splice_Site SNP G G T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:15126717G>T ENST00000396410.4 + 18 1668 c.e18-1 PDXDC1_ENST00000569715.1_Splice_Site|PDXDC1_ENST00000563679.1_Splice_Site|PDXDC1_ENST00000325823.7_Splice_Site|PDXDC1_ENST00000450288.2_Splice_Site|PDXDC1_ENST00000447912.2_Splice_Site|PDXDC1_ENST00000535621.2_Intron NM_015027.2 NP_055842.2 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain containing 1 carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) TGTTGTTTTAGGTATGAACAT 0.373000 134 204 8.90655e-82 1.00829e-81 0.870114 1 0 ACVR1 90 broad.mit.edu 37 2 158630598 158630598 + Splice_Site SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:158630598A>G ENST00000263640.3 - 6 1073 c.e6+1 ACVR1_ENST00000410057.2_Splice_Site|ACVR1_ENST00000434821.1_Splice_Site|ACVR1_ENST00000409283.2_Splice_Site NM_001105.4 NP_001096.1 Q04771 ACVR1_HUMAN activin A receptor, type I BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway activin receptor complex activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 19 BRCA - Breast invasive adenocarcinoma(221;0.104) Adenosine triphosphate(DB00171) AAAAAGAATTACCGACACACT 0.373000 39 78 0 0 0.796494 0 0 CCDC36 339834 broad.mit.edu 37 3 49293670 49293670 + Missense_Mutation SNP A A C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:49293670A>C ENST00000438782.1 + 8 976 c.740A>C c.(739-741)cAg>cCg p.Q247P CCDC36_ENST00000452691.2_Missense_Mutation_p.Q247P|CCDC36_ENST00000296449.5_Missense_Mutation_p.Q247P Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 247 endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3) 14 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) CAGCTAGGCCAGCTGAATGTG 0.507000 6 88 0 0 0.307466 0 0 PHLPP1 23239 broad.mit.edu 37 18 60612366 60612366 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr18:60612366T>C ENST00000400316.4 + 12 3431 c.1650T>C c.(1648-1650)ctT>ctC p.L550L PHLPP1_ENST00000262719.5_Silent_p.L1062L NM_194449.3 NP_919431.2 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein phosphatase 1 1062 PH. apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(2)|lung(13) 17 TGGAGGAACTTGAAGAAATTG 0.373000 17 35 0 0 0.500413 0 0 DIS3 22894 broad.mit.edu 37 13 73340159 73340159 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr13:73340159T>C ENST00000377767.4 - 15 2021 c.1921A>G c.(1921-1923)Atg>Gtg p.M641V DIS3_ENST00000545453.1_Missense_Mutation_p.M479V|DIS3_ENST00000377780.4_Missense_Mutation_p.M611V NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 641 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) TCACTGTCCATGTGGAATCGA 0.323000 Multiple Myeloma(4;0.011) 19 59 0 0 0.575678 0 0 P4HA1 5033 broad.mit.edu 37 10 74834565 74834565 + Splice_Site SNP C C G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:74834565C>G ENST00000412021.2 - 3 410 c.e3+1 P4HA1_ENST00000394890.2_Splice_Site|P4HA1_ENST00000440381.1_Splice_Site|P4HA1_ENST00000373008.2_Splice_Site|P4HA1_ENST00000307116.2_Splice_Site|P4HA1_ENST00000263556.3_Splice_Site NM_001142595.1 NP_001136067.1 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I endoplasmic reticulum lumen|mitochondrion 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 4-dioxygenase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) GTAAGACTTACCAATTGAAGT 0.299000 35 77 0 0 0.827153 0 0 AHNAK2 113146 broad.mit.edu 37 14 105421090 105421090 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr14:105421090A>G ENST00000333244.5 - 7 817 c.698T>C c.(697-699)cTg>cCg p.L233P NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 233 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ATCTCCTTCCAGAGTTTTCGT 0.562000 15 27 0 0 0.500413 0 0 SPTB 6710 broad.mit.edu 37 14 65240097 65240097 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr14:65240097T>C ENST00000389722.3 - 24 5072 c.5019A>G c.(5017-5019)gcA>gcG p.A1673A SPTB_ENST00000389720.3_Silent_p.A1673A|SPTB_ENST00000389721.5_Silent_p.A1673A|SPTB_ENST00000556626.1_Silent_p.A1673A|SPTB_ENST00000542895.1_Silent_p.A1673A NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1673 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) CCTTCAGCCCTGCGTAGTGCT 0.572000 8 237 0 0 0.335167 0 0 XIRP2 129446 broad.mit.edu 37 2 168099974 168099974 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:168099974C>A ENST00000409195.1 + 9 2161 c.2072C>A c.(2071-2073)aCt>aAt p.T691N XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T691N|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T469N NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 516 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 GATGTCAAGACTGTGAGATAC 0.403000 53 92 7.77372e-23 8.5136e-23 0.870114 1 0 SYT15 83849 broad.mit.edu 37 10 46963839 46963839 + Splice_Site SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:46963839C>T ENST00000374323.3 - 6 1870 c.e6+1 SYT15_ENST00000374325.3_Splice_Site|SYT15_ENST00000503753.1_Splice_Site|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374321.4_Splice_Site Q9BQS2 SYT15_HUMAN synaptotagmin XV integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 TGTGGCCTTACTGTCCCCTTC 0.602000 9 45 0 0 0.335167 0 0 TBC1D3B 414059 broad.mit.edu 37 17 34493433 34493433 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:34493433G>A ENST00000454519.3 - 14 1741 c.1592C>T c.(1591-1593)tCa>tTa p.S531L CTB-91J4.1_ENST00000592460.1_RNA|TBC1D3B_ENST00000398801.3_Missense_Mutation_p.S531L NM_001001417.5 NP_001001417.5 A6NDS4 TBC3B_HUMAN TBC1 domain family, member 3B 531 intracellular Rab GTPase activator activity endometrium(2)|lung(3)|pancreas(1) 6 Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) gcaaggccctgaggtgggagc 0.602000 72 147 0 0 0.870114 0 0 ADCY5 111 broad.mit.edu 37 3 123019001 123019001 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:123019001C>T ENST00000462833.1 - 15 4078 c.2866G>A c.(2866-2868)Gac>Aac p.D956N ADCY5_ENST00000309879.5_Missense_Mutation_p.D606N|ADCY5_ENST00000491190.1_Missense_Mutation_p.D589N NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 956 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) TCGGCGTTGTCGAAGAGCGTG 0.617000 4 59 0 0 0.184627 0 0 IGSF10 285313 broad.mit.edu 37 3 151156202 151156202 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:151156202T>C ENST00000282466.3 - 6 6146 c.6147A>G c.(6145-6147)caA>caG p.Q2049Q IGSF10_ENST00000495443.1_5'UTR 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 2049 Ig-like C2-type 7. 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) CATGGAGCACTTGCTTTCTAA 0.443000 109 202 0 0 0.870114 0 0 UNC45B 146862 broad.mit.edu 37 17 33510469 33510469 + Silent SNP C C T rs74403538 byFrequency TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:33510469C>T ENST00000268876.5 + 19 2500 c.2403C>T c.(2401-2403)gaC>gaT p.D801D UNC45B_ENST00000378449.1_Silent_p.D720D|UNC45B_ENST00000433649.1_Silent_p.D799D|UNC45B_ENST00000591048.1_Silent_p.D720D|UNC45B_ENST00000394570.2_Silent_p.D799D NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 801 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) TCTTGGCTGACGGGAATGACC 0.567000 22 49 0 0 0.706142 0 0 SEC14L1 6397 broad.mit.edu 37 17 75190814 75190814 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:75190814T>C ENST00000413679.2 + 7 833 c.530T>C c.(529-531)tTt>tCt p.F177S SEC14L1_ENST00000392476.2_Missense_Mutation_p.F177S|SEC14L1_ENST00000436233.4_Missense_Mutation_p.F177S|SEC14L1_ENST00000443798.4_Missense_Mutation_p.F177S|SEC14L1_ENST00000431431.2_Missense_Mutation_p.F143S|SEC14L1_ENST00000591437.1_Missense_Mutation_p.F143S|SEC14L1_ENST00000430767.4_Missense_Mutation_p.F177S|SEC14L1_ENST00000585618.1_Missense_Mutation_p.F177S NM_001143998.1|NM_001143999.1|NM_003003.3 NP_001137470.1|NP_001137471.1|NP_002994.3 Q92503 S14L1_HUMAN SEC14-like 1 (S. cerevisiae) 177 transport Golgi apparatus|integral to membrane binding NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2) 31 GGCATAACCTTTGTGCCCCGT 0.438000 6 236 0 0 0.307466 0 0 PML 5371 broad.mit.edu 37 15 74315449 74315449 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr15:74315449C>T ENST00000565898.1 + 3 967 c.883C>T c.(883-885)Cgc>Tgc p.R295C PML_ENST00000569477.1_Missense_Mutation_p.R295C|PML_ENST00000268058.3_Missense_Mutation_p.R295C|PML_ENST00000354026.6_Missense_Mutation_p.R295C|PML_ENST00000569161.1_3'UTR|PML_ENST00000567543.1_Missense_Mutation_p.R295C|PML_ENST00000359928.4_Missense_Mutation_p.R295C|PML_ENST00000569965.1_Missense_Mutation_p.R295C|PML_ENST00000435786.2_Missense_Mutation_p.R295C|PML_ENST00000395135.3_Missense_Mutation_p.R295C|PML_ENST00000436891.3_Missense_Mutation_p.R295C|PML_ENST00000563500.1_Missense_Mutation_p.R295C|PML_ENST00000395132.2_Missense_Mutation_p.R295C|PML_ENST00000564428.1_Missense_Mutation_p.R295C|PML_ENST00000268059.6_Missense_Mutation_p.R295C P29590 PML_HUMAN promyelocytic leukemia 295 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 GGCTCAGGAGCGCGAGCTGCT 0.731000 T """RARA, PAX5""" """APL, ALL""" 12 35 0 0 0.457914 0 0 NGEF 25791 broad.mit.edu 37 2 233839410 233839410 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:233839410A>G ENST00000264051.3 - 2 469 c.191T>C c.(190-192)aTc>aCc p.I64T NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 64 Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) GCGATTGAAGATGGAATTTCT 0.493000 141 299 0 0 0.870114 0 0 SMCR8 140775 broad.mit.edu 37 17 18219509 18219509 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:18219509G>A ENST00000406438.3 + 1 886 c.406G>A c.(406-408)Gtg>Atg p.V136M NM_144775.2 NP_658988.2 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, candidate 8 136 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 CTTTGCATACGTGCACCACCT 0.552000 65 135 0 0 0.870114 0 0 FTO 79068 broad.mit.edu 37 16 53922839 53922839 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:53922839A>G ENST00000471389.1 + 7 1437 c.1215A>G c.(1213-1215)gcA>gcG p.A405A FTO_ENST00000394647.3_Silent_p.A109A|FTO_ENST00000460382.1_Silent_p.A6A|FTO_ENST00000431610.2_Silent_p.A6A NM_001080432.2 NP_001073901.1 Q9C0B1 FTO_HUMAN fat mass and obesity associated 405 A -> V (in dbSNP:rs16952624). DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair nucleus DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 AACTGGAAGCACTGTGGAAGA 0.502000 54 113 0 0 0.870114 0 0 TMEM132D 121256 broad.mit.edu 37 12 129559558 129559558 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:129559558G>A ENST00000422113.2 - 9 2488 c.2162C>T c.(2161-2163)aCg>aTg p.T721M TMEM132D_ENST00000389441.4_Missense_Mutation_p.T259M NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 721 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) ATCCAAGGGCGTGACTGAGCC 0.468000 42 78 0 0 0.853193 0 0 OR5K4 403278 broad.mit.edu 37 3 98072884 98072884 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:98072884C>A ENST00000354924.2 + 1 187 c.187C>A c.(187-189)Ctg>Atg p.L63M RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005517.1 NP_001005517.1 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, member 4 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 GTACATCTTTCTGGGCAACCT 0.453000 303 528 1.03459e-158 1.17281e-158 0.870114 1 0 H2AFY2 55506 broad.mit.edu 37 10 71868887 71868887 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:71868887A>G ENST00000373255.4 + 8 1141 c.877A>G c.(877-879)Acc>Gcc p.T293A AIFM2_ENST00000373248.1_Intron NM_018649.2 NP_061119.1 Q9P0M6 H2AW_HUMAN H2A histone family, member Y2 293 Macro. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1) 15 GCTTGAAGAGACCATCAAAAA 0.557000 13 110 0 0 0.435327 0 0 NEB 4703 broad.mit.edu 37 2 152534241 152534241 + Silent SNP G G C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:152534241G>C ENST00000427231.2 - 34 3814 c.3612C>G c.(3610-3612)ggC>ggG p.G1204G NEB_ENST00000172853.10_Silent_p.G1204G|NEB_ENST00000409198.1_Silent_p.G1204G|NEB_ENST00000397345.3_Silent_p.G1204G|NEB_ENST00000603639.1_Silent_p.G1204G|NEB_ENST00000604864.1_Silent_p.G1204G NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 1204 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TAGGAATCCAGCCAATGCCTT 0.453000 166 275 0 0 0.870114 0 0 DHX37 57647 broad.mit.edu 37 12 125467060 125467060 + Missense_Mutation SNP T T G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:125467060T>G ENST00000308736.2 - 3 484 c.386A>C c.(385-387)aAa>aCa p.K129T NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 129 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) AACTCACTCTTTGGTGTGATA 0.552000 168 332 0 0 0.870114 0 0 AEBP1 165 broad.mit.edu 37 7 44153558 44153558 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:44153558A>G ENST00000223357.3 + 21 3480 c.3175A>G c.(3175-3177)Acc>Gcc p.T1059A AEBP1_ENST00000450684.2_Missense_Mutation_p.T634A NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 1059 Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 TGCCCCTGCCACCACCCTGAG 0.682000 4 9 0 0 0.217242 0 0 ATP2C2 9914 broad.mit.edu 37 16 84495688 84495688 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:84495688T>C ENST00000416219.2 + 27 2851 c.2762T>C c.(2761-2763)aTc>aCc p.I921T RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000262429.4_Missense_Mutation_p.I892T|ATP2C2_ENST00000420010.2_3'UTR O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 892 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 GTCATTTACATCCCCCCGCTG 0.612000 55 117 0 0 0.870114 0 0 LRP1 4035 broad.mit.edu 37 12 57605026 57605026 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:57605026C>T ENST00000243077.3 + 84 13450 c.12984C>T c.(12982-12984)tgC>tgT p.C4328C NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4328 EGF-like 20. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCCGACAATGCCGCTGCACTG 0.582000 13 32 0 0 0.539581 0 0 MRE11A 4361 broad.mit.edu 37 11 94203744 94203744 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:94203744C>T ENST00000323929.3 - 9 1132 c.910G>A c.(910-912)Gtg>Atg p.V304M MRE11A_ENST00000323977.3_Missense_Mutation_p.V304M|MRE11A_ENST00000407439.3_Missense_Mutation_p.V307M|MRE11A_ENST00000393241.4_Missense_Mutation_p.V304M NM_005591.3 NP_005582.1 P49959 MRE11_HUMAN MRE11 meiotic recombination 11 homolog A (S. cerevisiae) 304 DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase Mre11 complex|nucleoplasm 3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824) AACTGCCGCACTGTGTGAAGA 0.398000 Homologous recombination Ataxia-Telangiectasia-Like Disorder 5 147 0 0 0.217242 0 0 YTHDF1 54915 broad.mit.edu 37 20 61845285 61845285 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr20:61845285A>G ENST00000370339.3 - 3 404 c.63T>C c.(61-63)ggT>ggC p.G21G YTHDF1_ENST00000370334.4_Silent_p.G21G NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 21 NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 GATGTAACGAACCATTTTGTA 0.328000 24 82 0 0 0.819951 0 0 EOGT 285203 broad.mit.edu 37 3 69047200 69047200 + Missense_Mutation SNP A A C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:69047200A>C ENST00000383701.3 - 10 1535 c.793T>G c.(793-795)Tca>Gca p.S265A EOGT_ENST00000540764.1_Missense_Mutation_p.S164A|EOGT_ENST00000295571.5_Missense_Mutation_p.S265A|EOGT_ENST00000540955.1_Intron NM_001278689.1 NP_001265618.1 EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase GTACTGAATGAGTTATTAACG 0.388000 95 81 0 0 0.870114 0 0 LRRC27 80313 broad.mit.edu 37 10 134161565 134161565 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:134161565A>G ENST00000392638.2 + 6 826 c.631A>G c.(631-633)Aac>Gac p.N211D LRRC27_ENST00000368612.1_Missense_Mutation_p.N149D|LRRC27_ENST00000368614.3_Missense_Mutation_p.N211D|LRRC27_ENST00000344079.5_Missense_Mutation_p.N211D|LRRC27_ENST00000356571.4_3'UTR|LRRC27_ENST00000432555.2_Missense_Mutation_p.N84D|LRRC27_ENST00000368610.3_Missense_Mutation_p.N149D|LRRC27_ENST00000368613.4_Missense_Mutation_p.N211D|LRRC27_ENST00000368615.3_Missense_Mutation_p.N211D Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 211 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 18 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) CCACGCGTCTAACCAAGGAGC 0.572000 55 113 0 0 0.870114 0 0 PHB 5245 broad.mit.edu 37 17 47484173 47484173 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:47484173G>A ENST00000300408.3 - 6 626 c.554C>T c.(553-555)gCc>gTc p.A185V RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000511832.1_Intron|PHB_ENST00000508009.1_5'UTR NM_002634.2 NP_002625.1 P35232 PHB_HUMAN prohibitin 185 cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis integral to plasma membrane|mitochondrial inner membrane|nucleoplasm histone deacetylase binding|transcription regulatory region DNA binding endometrium(4)|large_intestine(2)|lung(4) 10 all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18) Epithelial(5;8.1e-06)|all cancers(6;7.71e-05) CACCTGTTTGGCTTCCACCGC 0.557000 25 51 0 0 0.717897 0 0 STAT6 6778 broad.mit.edu 37 12 57498535 57498535 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:57498535A>G ENST00000300134.3 - 10 1388 c.1063T>C c.(1063-1065)Tgc>Cgc p.C355R STAT6_ENST00000556155.1_Missense_Mutation_p.C355R|STAT6_ENST00000543873.2_Missense_Mutation_p.C355R|STAT6_ENST00000538913.2_Missense_Mutation_p.C245R|STAT6_ENST00000537215.2_Missense_Mutation_p.C245R|STAT6_ENST00000454075.3_Missense_Mutation_p.C355R NM_001178078.1|NM_003153.4 NP_001171549.1|NP_003144.3 P42226 STAT6_HUMAN signal transducer and activator of transcription 6, interleukin-4 induced 355 regulation of transcription from RNA polymerase II promoter cytosol|nucleus calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 28 GCAGAGCAGCAGTTCCCAGGA 0.562000 39 57 0 0 0.840704 0 0 FBXL14 144699 broad.mit.edu 37 12 1702059 1702059 + Nonsense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:1702059G>A ENST00000339235.3 - 1 1272 c.1174C>T c.(1174-1176)Cag>Tag p.Q392* WNT5B_ENST00000537031.1_Intron|FBXL14_ENST00000543278.1_Intron NM_152441.2 NP_689654.1 Q8N1E6 FXL14_HUMAN F-box and leucine-rich repeat protein 14 392 cytoplasm endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 8 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00115) TCCGTCATCTGCCAGAGTCCC 0.632000 30 43 0 0 0.819951 0 0 ZBTB44 29068 broad.mit.edu 37 11 130131061 130131061 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:130131061A>G ENST00000525842.1 - 2 1075 c.708T>C c.(706-708)atT>atC p.I236I ZBTB44_ENST00000357899.4_Silent_p.I236I|ZBTB44_ENST00000397753.1_Silent_p.I236I|ZBTB44_ENST00000530205.1_Silent_p.I236I NM_014155.4 NP_054874.3 Q8NCP5 ZBT44_HUMAN zinc finger and BTB domain containing 44 236 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235) TCCTTCGATCAATTCCAAAAG 0.428000 39 66 0 0 0.796494 0 0 ENG 2022 broad.mit.edu 37 9 130579468 130579468 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr9:130579468A>G ENST00000344849.3 - 13 1981 c.1701T>C c.(1699-1701)acT>acC p.T567T ENG_ENST00000373203.4_Silent_p.T567T|ENG_ENST00000480266.1_5'UTR|RP11-228B15.4_ENST00000439298.1_RNA P17813 EGLN_HUMAN endoglin 567 Ser/Thr-rich. artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing cell surface|external side of plasma membrane|extracellular space|membrane fraction activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 17 GCATGAAGACAGTCCTATGGA 0.577000 Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia 8 12 0 0 0.335167 0 0 QSER1 79832 broad.mit.edu 37 11 32953741 32953741 + Nonsense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:32953741C>T ENST00000399302.2 + 4 885 c.550C>T c.(550-552)Cga>Tga p.R184* QSER1_ENST00000527788.1_Nonsense_Mutation_p.R184* NM_001076786.1 NP_001070254.1 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 184 Ser-rich. breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) AGCTCTTCTTCGAGAATGTAG 0.453000 69 153 0 0 0.870114 0 0 RANBP2 5903 broad.mit.edu 37 2 109371408 109371408 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:109371408G>A ENST00000283195.6 + 16 2376 c.2250G>A c.(2248-2250)atG>atA p.M750I NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 750 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ATTCAGTCATGCAGGAACTCG 0.373000 161 336 0 0 0.870114 0 0 TMCC1 23023 broad.mit.edu 37 3 129546961 129546961 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:129546961G>A ENST00000393238.3 - 3 601 c.261C>T c.(259-261)aaC>aaT p.N87N TMCC1_ENST00000426664.2_Intron NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 87 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 CAGCACATGCGTTCTGGCTTT 0.532000 16 107 0 0 0.500413 0 0 COL14A1 7373 broad.mit.edu 37 8 121216054 121216054 + Missense_Mutation SNP G G C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:121216054G>C ENST00000297848.3 + 9 1254 c.984G>C c.(982-984)gaG>gaC p.E328D COL14A1_ENST00000247781.3_Missense_Mutation_p.E233D|COL14A1_ENST00000309791.4_Missense_Mutation_p.E328D|COL14A1_ENST00000537875.1_Missense_Mutation_p.E328D|COL14A1_ENST00000432943.2_3'UTR NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 328 VWFA 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) CAGTTGTGGAGAGTCTGACCA 0.468000 18 35 0 0 0.624587 0 0 PLCB3 5331 broad.mit.edu 37 11 64024202 64024202 + Nonsense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:64024202C>A ENST00000540288.1 + 10 1081 c.978C>A c.(976-978)taC>taA p.Y326* PLCB3_ENST00000279230.6_Nonsense_Mutation_p.Y326*|PLCB3_ENST00000325234.5_Nonsense_Mutation_p.Y259* NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 326 PI-PLC X-box. intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 TGAGTGCCTACTTCATCAACT 0.607000 29 56 3.33393e-15 3.56298e-15 0.804634 1 0 MCTP1 79772 broad.mit.edu 37 5 94253679 94253679 + Splice_Site SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:94253679C>T ENST00000515393.1 - 8 1272 c.e8-1 MCTP1_ENST00000312216.8_Splice_Site|MCTP1_ENST00000429576.2_Intron|MCTP1_ENST00000505208.1_Splice_Site|MCTP1_ENST00000505078.1_Intron NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) TGCCGCACGTCTGGATGGAAA 0.438000 24 53 0 0 0.760397 0 0 ISY1-RAB43 100534599 broad.mit.edu 37 3 128864606 128864606 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:128864606C>T ENST00000418265.1 - 6 358 c.298G>A c.(298-300)Gga>Aga p.G100R ISY1_ENST00000393292.3_Missense_Mutation_p.G100R|ISY1_ENST00000393295.3_Missense_Mutation_p.G100R|ISY1_ENST00000471497.1_5'UTR|ISY1_ENST00000273541.8_Missense_Mutation_p.G100R NM_001204890.1 NP_001191819.1 Q9ULR0 ISY1_HUMAN 100 catalytic step 2 spliceosome GTACTCACTCCATAATCAGGA 0.488000 5 94 0 0 0.217242 0 0 MYH8 4626 broad.mit.edu 37 17 10299971 10299971 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:10299971T>C ENST00000403437.2 - 32 4521 c.4427A>G c.(4426-4428)gAg>gGg p.E1476G CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1476 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 AGAACGTGACTCCTTCTGGGA 0.433000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 55 97 0 0 0.870114 0 0 ZNF354A 6940 broad.mit.edu 37 5 178139363 178139363 + Missense_Mutation SNP T T A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:178139363T>A ENST00000335815.2 - 5 1713 c.1516A>T c.(1516-1518)Aac>Tac p.N506Y NM_005649.2 NP_005640.2 O60765 Z354A_HUMAN zinc finger protein 354A 506 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) AGTGATGAGTTACACCTGAAT 0.398000 90 178 0 0 0.870114 0 0 GPR180 160897 broad.mit.edu 37 13 95264569 95264569 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr13:95264569A>G ENST00000376958.4 + 3 455 c.430A>G c.(430-432)Atc>Gtc p.I144V NM_180989.5 NP_851320.1 Q86V85 GP180_HUMAN G protein-coupled receptor 180 144 integral to membrane breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 10 all_neural(89;0.0684)|Medulloblastoma(90;0.163) GGTGGAAGATATCCCATTTGA 0.403000 71 172 0 0 0.870114 0 0 ATRNL1 26033 broad.mit.edu 37 10 117093811 117093811 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:117093811T>C ENST00000355044.3 + 19 3183 c.3057T>C c.(3055-3057)caT>caC p.H1019H ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Intron NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 1019 Laminin EGF-like 1. integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) GTAATGGACATAGCACTTGCA 0.338000 45 74 0 0 0.859065 0 0 TP53I3 9540 broad.mit.edu 37 2 24305872 24305872 + Nonsense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:24305872G>A ENST00000238721.4 - 2 1143 c.289C>T c.(289-291)Cag>Tag p.Q97* TP53I3_ENST00000313482.4_Nonsense_Mutation_p.Q97*|FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000417886.1_5'UTR|TP53I3_ENST00000407482.1_Nonsense_Mutation_p.Q97*|TP53I3_ENST00000335934.4_Nonsense_Mutation_p.Q97* NM_004881.4 NP_004872.2 Q53FA7 QORX_HUMAN tumor protein p53 inducible protein 3 97 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) GTGACGTACTGAGCCTGGCCC 0.652000 29 59 0 0 0.729181 0 0 CAGE1 285782 broad.mit.edu 37 6 7334269 7334269 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:7334269T>C ENST00000502583.1 - 12 2988 c.2424A>G c.(2422-2424)aaA>aaG p.K808K SSR1_ENST00000488834.1_5'UTR|CAGE1_ENST00000512086.1_Silent_p.K746K|CAGE1_ENST00000379918.4_Silent_p.K786K|CAGE1_ENST00000338150.4_Silent_p.K773K|CAGE1_ENST00000296742.7_Silent_p.K610K NM_001170692.1 NP_001164163.1 Q8TC20 CAGE1_HUMAN cancer antigen 1 746 breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1) 19 Ovarian(93;0.0418) GTTTTCTGGCTTTTTCTCTGG 0.323000 6 5 0 0 0.217242 0 0 ZNF586 54807 broad.mit.edu 37 19 58290702 58290702 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:58290702T>C ENST00000396150.4 + 2 767 c.620T>C c.(619-621)tTa>tCa p.L207S ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000396154.2_Silent_p.L249L|ZNF586_ENST00000391702.3_Silent_p.L206L|ZNF586_ENST00000598885.1_Intron NM_001077426.2 NP_001070894.1 Q9NXT0 ZN586_HUMAN zinc finger protein 586 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1) 15 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACTCCAGTCTTATTAAACACT 0.438000 56 98 0 0 0.870114 0 0 SELPLG 6404 broad.mit.edu 37 12 109017315 109017315 + Missense_Mutation SNP C C G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:109017315C>G ENST00000388962.3 - 3 898 c.739G>C c.(739-741)Gca>Cca p.A247P SELPLG_ENST00000228463.6_Missense_Mutation_p.A273P|SELPLG_ENST00000550948.1_Missense_Mutation_p.A257P NM_003006.4 NP_002997.2 Q14242 SELPL_HUMAN selectin P ligand 257 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 TCCATGGCTGCCAGTGGAGTG 0.582000 33 43 0 0 0.870114 0 0 KPNB1 3837 broad.mit.edu 37 17 45757396 45757396 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:45757396G>A ENST00000290158.4 + 20 2771 c.2364G>A c.(2362-2364)atG>atA p.M788I KPNB1_ENST00000540627.1_Missense_Mutation_p.M643I|KPNB1_ENST00000537679.1_Missense_Mutation_p.M572I|KPNB1_ENST00000535458.2_Missense_Mutation_p.M643I NM_001276453.1|NM_002265.4 NP_001263382.1|NP_002256.2 Q14974 IMB1_HUMAN karyopherin (importin) beta 1 788 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding breast(1)|ovary(1)|pancreas(1)|skin(1) 4 CGGATGTGATGCTGGTACAAC 0.493000 78 129 0 0 0.870114 0 0 SMC6 79677 broad.mit.edu 37 2 17902257 17902257 + Missense_Mutation SNP T T G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:17902257T>G ENST00000448223.2 - 11 1164 c.895A>C c.(895-897)Att>Ctt p.I299L SMC6_ENST00000351948.4_Missense_Mutation_p.I299L|SMC6_ENST00000381272.4_Missense_Mutation_p.I325L|SMC6_ENST00000402989.1_Missense_Mutation_p.I299L NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 299 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TCTTCTCCAATTTTGATATTA 0.289000 8 169 0 0 0.335167 0 0 MMEL1 79258 broad.mit.edu 37 1 2524327 2524327 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:2524327T>C ENST00000288709.6 - 20 2159 c.1919A>G c.(1918-1920)gAg>gGg p.E640G MMEL1_ENST00000378412.3_Missense_Mutation_p.E649G|MMEL1_ENST00000502556.1_Missense_Mutation_p.E492G NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 649 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) GATCATGCACTCTGACTGCTC 0.612000 29 24 0 0 0.760397 0 0 SOAT1 6646 broad.mit.edu 37 1 179316774 179316774 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:179316774A>G ENST00000367619.3 + 12 1300 c.1157A>G c.(1156-1158)cAc>cGc p.H386R SOAT1_ENST00000539888.1_Missense_Mutation_p.H321R|SOAT1_ENST00000535686.1_Missense_Mutation_p.H122R|SOAT1_ENST00000540564.1_Missense_Mutation_p.H328R NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 386 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) GCCTTTTTGCACTGCTGGCTC 0.338000 53 128 0 0 0.870114 0 0 COL4A4 1286 broad.mit.edu 37 2 227945177 227945177 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:227945177T>C ENST00000396625.3 - 24 1992 c.1785A>G c.(1783-1785)aaA>aaG p.K595K COL4A4_ENST00000329662.7_Silent_p.K595K NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 595 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) CTGGATCCCCTTTTTCTCCAG 0.463000 4 277 0 0 0.150653 0 0 NGF 4803 broad.mit.edu 37 1 115829215 115829215 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:115829215G>A ENST00000369512.2 - 3 370 c.202C>T c.(202-204)Cgc>Tgc p.R68C RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 68 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) GTAATGTTGCGGGTCTGCCCC 0.622000 15 17 0 0 0.539581 0 0 CNST 163882 broad.mit.edu 37 1 246810501 246810501 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:246810501T>C ENST00000366513.4 + 9 1267 c.998T>C c.(997-999)cTg>cCg p.L333P CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.L333P NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 333 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 GTGGAGCCCCTGGGGAGCAGT 0.458000 OREG0014367 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 53 114 0 0 0.870114 0 0 MAST4 375449 broad.mit.edu 37 5 66386058 66386058 + Splice_Site SNP A A T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:66386058A>T ENST00000404260.3 + 6 1140 c.833_splice c.e6+1 p.S278_splice MAST4_ENST00000490016.2_Splice_Site_p.R89_splice|MAST4_ENST00000405643.1_Splice_Site_p.R96_splice|MAST4_ENST00000261569.7_Splice_Site_p.R84_splice|MAST4_ENST00000403625.2_Splice_Site_p.R278_splice|MAST4_ENST00000403666.1_Splice_Site_p.R89_splice O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 278 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) ATTTGCACGGAGGTAAGGACT 0.468000 11 29 0 0 0.435327 0 0 ZFHX3 463 broad.mit.edu 37 16 72845484 72845484 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:72845484T>C ENST00000268489.5 - 7 4528 c.3856A>G c.(3856-3858)Att>Gtt p.I1286V ZFHX3_ENST00000397992.5_Missense_Mutation_p.I372V NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1286 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) ACCGTCATAATGAGCTTCTCC 0.552000 17 19 0 0 0.592651 0 0 ADCY7 113 broad.mit.edu 37 16 50328621 50328621 + Missense_Mutation SNP G G C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:50328621G>C ENST00000394697.2 + 7 1247 c.907G>C c.(907-909)Gtg>Ctg p.V303L ADCY7_ENST00000566433.2_Missense_Mutation_p.V303L|ADCY7_ENST00000254235.3_Missense_Mutation_p.V303L|ADCY7_ENST00000564044.1_3'UTR|ADCY7_ENST00000538642.1_Missense_Mutation_p.V303L|ADCY7_ENST00000537579.1_Missense_Mutation_p.V303L P51828 ADCY7_HUMAN adenylate cyclase 7 303 Guanylate cyclase 1. activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) GCTGGTGGTGGTGCTGAATGA 0.617000 11 17 0 0 0.435327 0 0 MYO6 4646 broad.mit.edu 37 6 76589611 76589611 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:76589611T>C ENST00000369981.3 + 21 2431 c.2152T>C c.(2152-2154)Tac>Cac p.Y718H MYO6_ENST00000462633.1_3'UTR|MYO6_ENST00000369985.4_Missense_Mutation_p.Y718H|MYO6_ENST00000369975.1_Missense_Mutation_p.Y718H|MYO6_ENST00000369977.3_Missense_Mutation_p.Y718H Q9UM54 MYO6_HUMAN myosin VI 718 Myosin head-like. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) CTACAACATGTACAAAAAGTA 0.383000 91 181 0 0 0.870114 0 0 IDH3G 3421 broad.mit.edu 37 X 153059774 153059774 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chrX:153059774A>G ENST00000370092.3 - 1 193 c.8T>C c.(7-9)cTg>cCg p.L3P IDH3G_ENST00000217901.5_Missense_Mutation_p.L3P|IDH3G_ENST00000370093.1_Missense_Mutation_p.L3P|IDH3G_ENST00000427365.2_5'UTR|SSR4_ENST00000320857.3_5'UTR|SSR4_ENST00000370087.1_5'UTR|IDH3G_ENST00000497043.1_5'UTR NM_174869.2 NP_777358.1 P51553 IDH3G_HUMAN isocitrate dehydrogenase 3 (NAD+) gamma 3 carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleolus ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1) 17 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) CGCTACCTTCAGCGCCATGAC 0.687000 10 9 0 0 0.361761 0 0 CCDC104 112942 broad.mit.edu 37 2 55749245 55749245 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:55749245T>C ENST00000349456.4 + 2 271 c.123T>C c.(121-123)gaT>gaC p.D41D CCDC104_ENST00000339012.3_Silent_p.D66D|CCDC104_ENST00000407816.3_Silent_p.D41D|CCDC104_ENST00000403007.3_Silent_p.D41D|CCDC104_ENST00000406691.3_Silent_p.D41D Q96G28 CC104_HUMAN coiled-coil domain containing 104 41 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2) 14 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TAGTTTTTGATGATGAAGAAG 0.254000 17 46 0 0 0.520397 0 0 SYNGR3 9143 broad.mit.edu 37 16 2043042 2043042 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:2043042G>A ENST00000248121.2 + 4 817 c.659G>A c.(658-660)aGc>aAc p.S220N SYNGR3_ENST00000562045.1_3'UTR NM_004209.5 NP_004200.2 O43761 SNG3_HUMAN synaptogyrin 3 220 positive regulation of transporter activity cell junction|integral to plasma membrane|synaptic vesicle endometrium(1)|lung(2) 3 CTGGACACCAGCCCCAAAGGG 0.711000 8 14 0 0 0.307466 0 0 SLC12A8 84561 broad.mit.edu 37 3 124930170 124930170 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:124930170C>T ENST00000393469.4 - 1 73 c.24G>A c.(22-24)caG>caA p.Q8Q SLC12A8_ENST00000469902.1_Silent_p.Q8Q|SLC12A8_ENST00000423114.2_Intron|SLC12A8_ENST00000314584.7_5'UTR NM_001195483.1 NP_001182412.1 A0AV02 S12A8_HUMAN solute carrier family 12, member 8 8 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 GGAAGAGCTCCTGCACCTGGG 0.602000 6 248 0 0 0.248553 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617102 77617102 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:77617102T>C ENST00000521891.2 + 2 1227 c.779T>C c.(778-780)gTg>gCg p.V260A ZFHX4_ENST00000455469.2_Missense_Mutation_p.V260A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.V260A|ZFHX4_ENST00000518282.1_Missense_Mutation_p.V260A|ZFHX4_ENST00000517683.1_Intron NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 260 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) CCTAACAATGTGGACTTGTCC 0.413000 HNSCC(33;0.089) 35 71 0 0 0.796494 0 0 ZNF234 10780 broad.mit.edu 37 19 44661005 44661005 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:44661005A>G ENST00000426739.2 + 6 1094 c.836A>G c.(835-837)cAg>cGg p.Q279R ZNF234_ENST00000592437.1_Missense_Mutation_p.Q279R NM_006630.2 NP_006621.1 Q14588 ZN234_HUMAN zinc finger protein 234 279 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1) 23 Prostate(69;0.0435) CAGGAACATCAGAGAATTCAT 0.413000 105 226 0 0 0.870114 0 0 NF2 4771 broad.mit.edu 37 22 30051666 30051666 + Splice_Site SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr22:30051666G>A ENST00000338641.4 + 6 1040 c.e6+1 NF2_ENST00000413209.2_Intron|NF2_ENST00000361166.4_Splice_Site|NF2_ENST00000334961.7_Splice_Site|NF2_ENST00000403435.1_Splice_Site|NF2_ENST00000353887.4_Splice_Site|NF2_ENST00000361452.4_Splice_Site|NF2_ENST00000397789.3_Splice_Site|NF2_ENST00000347330.5_Intron|NF2_ENST00000403999.3_Splice_Site|NF2_ENST00000361676.4_Splice_Site NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.?(5) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 GCCGAGCCAGGTGAGGCCCAT 0.408000 """D, Mis, N, F, S, O""" """meningioma, acoustic neuroma, renal """ """meningioma, acoustic neuroma""" Neurofibromatosis, type 2 28 39 0 0 0.769981 0 0 PLCD1 5333 broad.mit.edu 37 3 38050545 38050545 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:38050545C>A ENST00000463876.1 - 11 2127 c.1774G>T c.(1774-1776)Ggc>Tgc p.G592C PLCD1_ENST00000334661.4_Missense_Mutation_p.G571C NM_001130964.1 NP_001124436.1 P51178 PLCD1_HUMAN phospholipase C, delta 1 571 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) ATCTGGCAGCCCCCATTCCAC 0.642000 9 11 0.000978159 0.00100202 0.387290 1 0 RNF31 55072 broad.mit.edu 37 14 24619565 24619565 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr14:24619565C>T ENST00000324103.6 + 7 1425 c.1105C>T c.(1105-1107)Cta>Tta p.L369L RNF31_ENST00000382687.3_Silent_p.L218L|RNF31_ENST00000559275.1_Silent_p.L218L NM_017999.4 NP_060469.4 Q96EP0 RNF31_HUMAN ring finger protein 31 369 Polyubiquitin-binding. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1) 39 GBM - Glioblastoma multiforme(265;0.00861) AGCTGCTGTGCTATGTTCCAT 0.587000 32 53 0 0 0.788014 0 0 CEP152 22995 broad.mit.edu 37 15 49076301 49076301 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr15:49076301C>T ENST00000380950.2 - 10 1377 c.1190G>A c.(1189-1191)cGt>cAt p.R397H CEP152_ENST00000399334.3_Missense_Mutation_p.R397H|RP11-485O10.2_ENST00000558304.1_RNA|CEP152_ENST00000325747.5_Missense_Mutation_p.R304H NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 397 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) ATCTTTCAGACGAGAGCAAAT 0.303000 29 62 0 0 0.729181 0 0 FAT1 2195 broad.mit.edu 37 4 187540370 187540370 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr4:187540370A>G ENST00000441802.2 - 10 7579 c.7370T>C c.(7369-7371)cTg>cCg p.L2457P NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2457 Cadherin 22. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 AAATGGCTTCAGGGCGTGCCG 0.438000 HNSCC(5;0.00058) 115 99 0 0 0.870114 0 0 BAHCC1 57597 broad.mit.edu 37 17 79409727 79409727 + Missense_Mutation SNP A A T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:79409727A>T ENST00000307745.7 + 9 1352 c.1352A>T c.(1351-1353)gAg>gTg p.E451V GGCAAGGGCGAGCGGCGGCCT 0.701000 5 4 0 0 0.278610 0 0 LRRC43 254050 broad.mit.edu 37 12 122674785 122674785 + Silent SNP A A T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:122674785A>T ENST00000339777.4 + 5 799 c.771A>T c.(769-771)ggA>ggT p.G257G LRRC43_ENST00000425921.1_Silent_p.G72G NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 257 NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) TGCTGCAGGGAAACCCACTGG 0.637000 41 83 0 0 0.870114 0 0 HEATR5B 54497 broad.mit.edu 37 2 37291914 37291914 + Missense_Mutation SNP C C G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:37291914C>G ENST00000233099.5 - 10 1648 c.1553G>C c.(1552-1554)tGt>tCt p.C518S HEATR5B_ENST00000354531.2_Missense_Mutation_p.C518S NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 518 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) GCCCAAAGGACACTGATGTAC 0.488000 40 103 0 0 0.827153 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372644 74372644 + RNA SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:74372644A>G ENST00000429810.2 - 0 1552 TACCCTTGTCAGGGGGAACAA 0.443000 7 26 0 0 0.248553 0 0 TRIOBP 11078 broad.mit.edu 37 22 38168624 38168624 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr22:38168624C>T ENST00000406386.3 + 23 7208 c.6953C>T c.(6952-6954)tCg>tTg p.S2318L RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000403663.2_Missense_Mutation_p.S605L NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 2318 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) CGCTTCACCTCGGGAAAGTAC 0.622000 59 32 0 0 0.870114 0 0 ZNF846 162993 broad.mit.edu 37 19 9868821 9868821 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:9868821A>G ENST00000397902.2 - 6 1345 c.932T>C c.(931-933)gTa>gCa p.V311A ZNF846_ENST00000588267.1_Missense_Mutation_p.V182A|ZNF846_ENST00000592859.1_Missense_Mutation_p.V182A|ZNF846_ENST00000586293.1_3'UTR NM_001077624.1 NP_001071092.1 Q147U1 ZN846_HUMAN zinc finger protein 846 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 TTCCATACATACATAGGGCTT 0.398000 4 166 0 0 0.217242 0 0 TLR10 81793 broad.mit.edu 37 4 38775818 38775818 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr4:38775818A>G ENST00000308973.4 - 4 1999 c.1394T>C c.(1393-1395)cTg>cCg p.L465P TLR10_ENST00000508334.1_Missense_Mutation_p.L465P|TLR10_ENST00000361424.2_Missense_Mutation_p.L465P|TLR10_ENST00000506111.1_Missense_Mutation_p.L465P NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 465 inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 TAAGGCCATCAGATGAATAGT 0.348000 96 84 0 0 0.870114 0 0 ZNF462 58499 broad.mit.edu 37 9 109734321 109734321 + Nonsense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr9:109734321C>T ENST00000277225.5 + 8 6752 c.6463C>T c.(6463-6465)Cag>Tag p.Q2155* ZNF462_ENST00000542028.1_Nonsense_Mutation_p.Q112*|ZNF462_ENST00000441147.2_Nonsense_Mutation_p.Q1061*|ZNF462_ENST00000457913.1_Nonsense_Mutation_p.Q2215* Q96JM2 ZN462_HUMAN zinc finger protein 462 2155 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 TGTTCAGCAGCAGTTGAACCA 0.517000 5 77 0 0 0.217242 0 0 ATG4A 115201 broad.mit.edu 37 X 107381402 107381402 + Nonsense_Mutation SNP T T G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chrX:107381402T>G ENST00000372232.3 + 9 954 c.795T>G c.(793-795)taT>taG p.Y265* ATG4A_ENST00000545696.1_Intron|ATG4A_ENST00000372254.3_Nonsense_Mutation_p.Y241*|ATG4A_ENST00000345734.3_Intron NM_052936.3 NP_443168.2 Q8WYN0 ATG4A_HUMAN autophagy related 4A, cysteine peptidase 265 autophagy|protein transport|proteolysis cytoplasm cysteine-type peptidase activity endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1) 11 ATAACGCGTATTATTTCATAG 0.458000 113 97 0 0 0.870114 0 0 WLS 79971 broad.mit.edu 37 1 68614299 68614299 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:68614299G>A ENST00000262348.4 - 7 1270 c.1017C>T c.(1015-1017)gtC>gtT p.V339V GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000491811.1_5'UTR|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000370976.3_Silent_p.V248V|WLS_ENST00000354777.2_Silent_p.V337V|WLS_ENST00000540432.1_Silent_p.V339V NM_024911.6 NP_079187.3 Q5T9L3 WLS_HUMAN wntless Wnt ligand secretion mediator 339 multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway cytoplasmic vesicle membrane|Golgi membrane|integral to membrane signal transducer activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1) 20 CAATGGGTCCGACTTGCTTCC 0.512000 12 14 0 0 0.500413 0 0 ATP6V1B1 525 broad.mit.edu 37 2 71189971 71189971 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:71189971G>A ENST00000234396.4 + 9 923 c.850G>A c.(850-852)Gag>Aag p.E284K ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.E284K|AC007040.11_ENST00000606025.1_Intron NM_001692.3 NP_001683.2 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 284 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1) 19 CTACCAGTGTGAGAAGCATGT 0.582000 33 67 0 0 0.769981 0 0 THOC6 79228 broad.mit.edu 37 16 3076526 3076526 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:3076526C>A ENST00000326266.8 + 7 717 c.421C>A c.(421-423)Ctc>Atc p.L141I THOC6_ENST00000574549.1_Missense_Mutation_p.L117I|THOC6_ENST00000253952.9_Missense_Mutation_p.L141I|THOC6_ENST00000575576.1_Missense_Mutation_p.L117I NM_024339.3 NP_077315.2 Q86W42 THOC6_HUMAN THO complex 6 homolog (Drosophila) 141 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex RNA binding central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 13 GGAGAATTCCCTCATCCTGGC 0.522000 16 33 7.41877e-09 7.76061e-09 0.608945 1 0 SNRNP200 23020 broad.mit.edu 37 2 96943382 96943382 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:96943382A>G ENST00000323853.5 - 41 5903 c.5826T>C c.(5824-5826)gcT>gcC p.A1942A SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 1942 SEC63 2. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 CCAGTTCCATAGCTGCCAGAG 0.547000 35 63 0 0 0.827153 0 0 CD1B 910 broad.mit.edu 37 1 158301156 158301156 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:158301156G>A ENST00000368168.3 - 1 165 c.58C>T c.(58-60)Cat>Tat p.H20Y NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 20 antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) CTCTTACCATGTTCACTGTTA 0.483000 22 51 0 0 0.667858 0 0 HIST1H2BJ 8970 broad.mit.edu 37 6 27100491 27100491 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:27100491C>T ENST00000607124.1 - 1 38 c.39G>A c.(37-39)aaG>aaA p.K13K HIST1H2BJ_ENST00000541790.1_Silent_p.K13K|HIST1H2BJ_ENST00000339812.2_Silent_p.K13K P06899 H2B1J_HUMAN histone cluster 1, H2bj 13 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1) 10 TCTTGGAGCCCTTTTTCGGGG 0.532000 4 152 0 0 0.150653 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45523258 45523258 + Missense_Mutation SNP G G A rs138635982 byFrequency TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr21:45523258G>A ENST00000291574.4 + 23 3801 c.3626G>A c.(3625-3627)aGc>aAc p.S1209N NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 1209 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 AGCAGGGGCAGCGTGCATTCG 0.627000 5 15 0 0 0.307466 0 0 PIK3CD 5293 broad.mit.edu 37 1 9781596 9781596 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:9781596C>T ENST00000536656.1 + 15 2186 c.1978C>T c.(1978-1980)Cgg>Tgg p.R660W PIK3CD_ENST00000361110.2_Missense_Mutation_p.R660W|PIK3CD_ENST00000377346.4_Missense_Mutation_p.R636W|PIK3CD_ENST00000543390.1_Missense_Mutation_p.R303W O00329 PK3CD_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta 636 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) CCTGCTGGACCGGGCCCTGGC 0.617000 OREG0013082 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 15 0 0 0.479597 0 0 UGT1A1 54658 broad.mit.edu 37 2 234669127 234669127 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:234669127C>T ENST00000360418.3 + 1 194 c.194C>T c.(193-195)tCg>tTg p.S65L UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000305208.5_Missense_Mutation_p.S65L|UGT1A7_ENST00000373426.3_Intron P22309 UD11_HUMAN 65 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) CCTGACGCCTCGTTGTACATC 0.517000 21 229 0 0 0.592651 0 0 DISP2 85455 broad.mit.edu 37 15 40661343 40661343 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr15:40661343C>T ENST00000267889.3 + 8 3117 c.3030C>T c.(3028-3030)ctC>ctT p.L1010L RP11-64K12.4_ENST00000558421.1_RNA NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 1010 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) TGGTTCTCCTCGAGTGGCAGC 0.587000 15 25 0 0 0.654019 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128851410 128851410 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:128851410T>C ENST00000310343.9 - 16 1638 c.1639A>G c.(1639-1641)Atg>Gtg p.M547V ARHGAP32_ENST00000524655.1_Missense_Mutation_p.M473V|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.M198V|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.M198V NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 547 Rho-GAP. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 CTCACTTCCATGAAAGCTGCT 0.473000 5 145 0 0 0.217242 0 0 C9orf96 169436 broad.mit.edu 37 9 136255356 136255356 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr9:136255356T>C ENST00000371957.3 + 6 550 c.443T>C c.(442-444)cTg>cCg p.L148P C9orf96_ENST00000371955.1_5'UTR NM_153710.3 NP_714921.3 Q8NE28 SGK71_HUMAN chromosome 9 open reading frame 96 148 Protein kinase. ATP binding|protein kinase activity autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2) 25 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CTGGAATACCTGCACCATTTG 0.622000 12 14 0 0 0.457914 0 0 TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:7578212G>A ENST00000420246.2 - 6 769 c.637C>T c.(637-639)Cga>Tga p.R213* TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 213 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACACTATGTCGAAAAGTGTTT 0.532000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 56 0 0 0.654019 0 0 SPG11 80208 broad.mit.edu 37 15 44888371 44888371 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr15:44888371G>A ENST00000261866.7 - 25 4360 c.4344C>T c.(4342-4344)tgC>tgT p.C1448C SPG11_ENST00000535302.2_Silent_p.C1448C|SPG11_ENST00000427534.2_Silent_p.C1448C|SPG11_ENST00000558319.1_Silent_p.C1448C NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 1448 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) GCTCCTCTGAGCATTGGAGCA 0.498000 49 103 0 0 0.870114 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826136 43826136 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:43826136G>A ENST00000389420.3 - 21 3066 c.3067C>T c.(3067-3069)Ccc>Tcc p.P1023S ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1023S|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P177S NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1023 TSP type-1 4. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GCCCAACTGGGACAGGAAAAT 0.383000 25 52 0 0 0.667858 0 0 DLG5 9231 broad.mit.edu 37 10 79567599 79567599 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:79567599T>C ENST00000372391.2 - 25 4756 c.4751A>G c.(4750-4752)gAg>gGg p.E1584G DLG5_ENST00000372388.2_Missense_Mutation_p.E1244G|DLG5_ENST00000459739.1_5'UTR NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1584 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) CTTCGTGAACTCCTCAGGGCG 0.592000 3 92 0 0 0.150653 0 0 DYRK4 8798 broad.mit.edu 37 12 4721810 4721810 + Missense_Mutation SNP G G T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:4721810G>T ENST00000540757.2 + 12 1407 c.1247G>T c.(1246-1248)aGg>aTg p.R416M DYRK4_ENST00000010132.5_Missense_Mutation_p.R416M|DYRK4_ENST00000545342.1_Missense_Mutation_p.R53M|DYRK4_ENST00000543431.1_Missense_Mutation_p.R416M NM_003845.1 NP_003836.1 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 416 Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(7;0.103) CAGACCCTGAGGAAATCCAAT 0.532000 36 118 2.47872e-24 2.71818e-24 0.853193 1 0 EVI2A 2123 broad.mit.edu 37 17 29647410 29647410 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:29647410C>T ENST00000247270.3 - 2 376 c.40G>A c.(40-42)Gcc>Acc p.A14T EVI2A_ENST00000462804.2_Intron|NF1_ENST00000356175.3_Intron|NF1_ENST00000581113.2_Intron|EVI2A_ENST00000461237.1_Intron|NF1_ENST00000358273.4_Intron NM_001003927.2 NP_001003927.1 P22794 EVI2A_HUMAN ecotropic viral integration site 2A 0 integral to membrane transmembrane receptor activity p.0?(8)|p.?(3) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18) ataggtagggcctgaaagtct 0.348000 7 110 0 0 0.248553 0 0 MYH10 4628 broad.mit.edu 37 17 8421992 8421992 + Missense_Mutation SNP T T G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:8421992T>G ENST00000360416.3 - 21 2599 c.2461A>C c.(2461-2463)Att>Ctt p.I821L MYH10_ENST00000269243.4_Missense_Mutation_p.I790L|MYH10_ENST00000396239.1_Missense_Mutation_p.I811L|MYH10_ENST00000379980.4_Missense_Mutation_p.I806L NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 790 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 AAGAAGATAATGATATCGGTG 0.428000 45 95 0 0 0.870114 0 0 ELANE 1991 broad.mit.edu 37 19 852901 852901 + Silent SNP G G T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:852901G>T ENST00000590230.1 + 3 234 c.93G>T c.(91-93)gtG>gtT p.V31V ELANE_ENST00000263621.1_Silent_p.V31V P08246 ELNE_HUMAN elastase, neutrophil expressed 31 Peptidase S1. cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV cell surface|extracellular region|stored secretory granule bacterial cell surface binding|cytokine binding|heparin binding breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1) 13 Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019) CGGAGATTGTGGGGGGCCGGC 0.726000 8 4 0.000274275 0.000281652 0.307466 1 0 GAB4 128954 broad.mit.edu 37 22 17446137 17446137 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr22:17446137A>G ENST00000400588.1 - 7 1417 c.1310T>C c.(1309-1311)cTg>cCg p.L437P NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 437 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) GTTGTTTCTCAGGTTGGGCGG 0.547000 26 47 0 0 0.717897 0 0 RASGEF1A 221002 broad.mit.edu 37 10 43696217 43696217 + Silent SNP C C T rs61758758 byFrequency TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:43696217C>T ENST00000395809.1 - 5 3085 c.579G>A c.(577-579)aaG>aaA p.K193K RASGEF1A_ENST00000395810.1_Silent_p.K193K|RASGEF1A_ENST00000374459.1_Silent_p.K201K|RASGEF1A_ENST00000472864.1_5'UTR Q8N9B8 RGF1A_HUMAN RasGEF domain family, member 1A 193 cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2) 11 GGATGGGCCCCTTGTCTACAG 0.642000 19 27 0 0 0.740014 0 0 CHD5 26038 broad.mit.edu 37 1 6211094 6211094 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:6211094C>A ENST00000262450.3 - 7 1091 c.992G>T c.(991-993)aGg>aTg p.R331M CHD5_ENST00000378021.1_De_novo_Start_InFrame NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 331 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) AGTCATACTCCTCTTCTTCTT 0.617000 19 22 1.10513e-12 1.17359e-12 0.624587 1 0 REV3L 5980 broad.mit.edu 37 6 111701250 111701250 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:111701250C>T ENST00000435970.1 - 13 1971 c.1155G>A c.(1153-1155)atG>atA p.M385I REV3L_ENST00000368802.3_Missense_Mutation_p.M463I|REV3L_ENST00000358835.3_Missense_Mutation_p.M463I|REV3L_ENST00000368805.1_Missense_Mutation_p.M463I O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 463 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) AACTAAGCTCCATTTCCTCTT 0.348000 DNA polymerases (catalytic subunits) 114 290 0 0 0.870114 0 0 PLXNA1 5361 broad.mit.edu 37 3 126708217 126708217 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:126708217C>T ENST00000251772.4 + 1 781 c.712C>T c.(712-714)Ctg>Ttg p.L238L PLXNA1_ENST00000393409.2_Silent_p.L261L Q9UIW2 PLXA1_HUMAN plexin A1 261 Sema. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CTACCTCACGCTGCAGCTAGA 0.562000 3 113 0 0 0.115264 0 0 DHX58 79132 broad.mit.edu 37 17 40263345 40263345 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:40263345G>A ENST00000251642.3 - 4 561 c.339C>T c.(337-339)agC>agT p.S113S NM_024119.2 NP_077024.2 Q96C10 DHX58_HUMAN DEXH (Asp-Glu-X-His) box polypeptide 58 113 Helicase ATP-binding. innate immune response cytoplasm ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) CCTCCTCGGGGCTGGTCAGTG 0.632000 23 43 0 0 0.654019 0 0 DNAH2 146754 broad.mit.edu 37 17 7728027 7728027 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:7728027G>A ENST00000572933.1 + 77 13295 c.11835G>A c.(11833-11835)atG>atA p.M3945I DNAH2_ENST00000389173.2_Missense_Mutation_p.M3945I Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3945 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GCATCAAGATGACCACAGAGC 0.557000 9 127 0 0 0.335167 0 0 MYOM2 9172 broad.mit.edu 37 8 2005806 2005806 + Silent SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:2005806C>A ENST00000262113.4 + 5 609 c.468C>A c.(466-468)atC>atA p.I156I MYOM2_ENST00000523438.1_Intron NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 156 Ig-like C2-type 1. 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) CTCCTGAGATCCTGGTGCGGC 0.597000 11 19 5.26018e-13 5.5931e-13 0.608945 1 0 OR3A1 4994 broad.mit.edu 37 17 3195465 3195465 + Missense_Mutation SNP G G T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:3195465G>T ENST00000323404.1 - 1 411 c.412C>A c.(412-414)Cgc>Agc p.R138S RP11-64J4.2_ENST00000573491.1_RNA NM_002550.2 NP_002541.2 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, member 1 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 20 TGACTCATGCGGGTGCTGTAG 0.582000 48 104 3.16986e-14 3.37904e-14 0.870114 1 0 ESR1 2099 broad.mit.edu 37 6 152265601 152265601 + Silent SNP A A C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:152265601A>C ENST00000440973.1 + 6 1424 c.1054A>C c.(1054-1056)Agg>Cgg p.R352R ESR1_ENST00000443427.1_Silent_p.R352R|ESR1_ENST00000338799.5_Silent_p.R352R|ESR1_ENST00000544394.1_Silent_p.R179R|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000206249.3_Silent_p.R352R|ESR1_ENST00000456483.2_Intron|ESR1_ENST00000482101.1_3'UTR NM_001122742.1 NP_001116214.1 P03372 ESR1_HUMAN estrogen receptor 1 352 Interaction with AKAP13.|Steroid-binding. 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) CCTGGCAGACAGGGAGCTGGT 0.493000 12 145 0 0 0.457914 0 0 CACNA1F 778 broad.mit.edu 37 X 49071830 49071830 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chrX:49071830T>C ENST00000376265.2 - 28 3504 c.3443A>G c.(3442-3444)tAc>tGc p.Y1148C CACNA1F_ENST00000376251.1_Missense_Mutation_p.Y1083C|CACNA1F_ENST00000323022.5_Missense_Mutation_p.Y1137C NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1148 Dihydropyridine binding (By similarity). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) ACAGTTTTGGTACTCCTGCTC 0.532000 3 39 0 0 0.184627 0 0 LEMD2 221496 broad.mit.edu 37 6 33744975 33744975 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:33744975G>A ENST00000293760.5 - 7 1217 c.1198C>T c.(1198-1200)Cgg>Tgg p.R400W LEMD2_ENST00000508327.1_Missense_Mutation_p.R98W|LEMD2_ENST00000502643.1_5'UTR NM_181336.3 NP_851853.1 Q8NC56 LEMD2_HUMAN LEM domain containing 2 400 integral to nuclear inner membrane central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1) 9 TTTCGCCACCGATATTTTAGG 0.488000 14 232 0 0 0.500413 0 0 KIF5A 3798 broad.mit.edu 37 12 57976896 57976896 + Silent SNP G G A rs148434838 byFrequency TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:57976896G>A ENST00000455537.2 + 28 3307 c.3033G>A c.(3031-3033)ccG>ccA p.P1011P KIF5A_ENST00000286452.5_Silent_p.P922P NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 1011 Globular. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity 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 GTGACCTGCCGTGTGGCTATG 0.532000 OREG0021947 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 32 0 0 0.435327 0 0 KNDC1 85442 broad.mit.edu 37 10 135013087 135013087 + Nonsense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:135013087C>T ENST00000304613.3 + 15 2905 c.2884C>T c.(2884-2886)Cag>Tag p.Q962* KNDC1_ENST00000368571.2_Nonsense_Mutation_p.Q897*|KNDC1_ENST00000368572.2_Nonsense_Mutation_p.Q964* Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 962 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GGTCAACGGGCAGGCGTCACC 0.612000 31 71 0 0 0.760397 0 0 PHTF1 10745 broad.mit.edu 37 1 114243546 114243546 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:114243546A>G ENST00000369604.1 - 16 2399 c.1916T>C c.(1915-1917)cTg>cCg p.L639P PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369596.2_Missense_Mutation_p.L586P|PHTF1_ENST00000393357.2_Missense_Mutation_p.L639P|PHTF1_ENST00000369600.1_Missense_Mutation_p.L586P|PHTF1_ENST00000369598.1_Missense_Mutation_p.L594P Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 639 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-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) AGCATCATTCAGGAAAGTTTT 0.333000 42 42 0 0 0.870114 0 0 MXRA5 25878 broad.mit.edu 37 X 3235384 3235384 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chrX:3235384G>A ENST00000217939.6 - 6 6492 c.6338C>T c.(6337-6339)gCg>gTg p.A2113V NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2113 Ig-like C2-type 5. 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) GTCCTTGGGCGCGAGGTTGCG 0.667000 12 13 0 0 0.479597 0 0 CORO2B 10391 broad.mit.edu 37 15 69011755 69011755 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr15:69011755C>T ENST00000543950.1 + 11 1514 c.1160C>T c.(1159-1161)cCc>cTc p.P387L CORO2B_ENST00000261861.5_Missense_Mutation_p.P387L|CORO2B_ENST00000566799.1_Missense_Mutation_p.P392L|CORO2B_ENST00000540068.1_Missense_Mutation_p.P387L NM_001190457.1 NP_001177386.1 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 392 actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 TCTTTAGATCCCGTGCTGATG 0.478000 91 201 0 0 0.870114 0 0 EPHA5 2044 broad.mit.edu 37 4 66231674 66231674 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr4:66231674T>C ENST00000273854.3 - 11 2626 c.2026A>G c.(2026-2028)Acc>Gcc p.T676A EPHA5_ENST00000432638.2_Missense_Mutation_p.T513A|EPHA5_ENST00000354839.4_Missense_Mutation_p.T654A|EPHA5_ENST00000511294.1_Missense_Mutation_p.T677A NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 676 Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 CTCTCAATGGTGATACATGAT 0.383000 TSP Lung(17;0.13) 89 73 0 0 0.870114 0 0 STK38L 23012 broad.mit.edu 37 12 27461270 27461270 + Splice_Site SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:27461270A>G ENST00000389032.3 + 4 355 c.e4-1 STK38L_ENST00000539577.1_Intron NM_015000.3 NP_055815.1 Q9Y2H1 ST38L_HUMAN serine/threonine kinase 38 like intracellular protein kinase cascade|regulation of cellular component organization actin cytoskeleton|cytoplasm actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 Colorectal(261;0.0847) TTTTTTTAATAGAAAAAGTTA 0.338000 51 81 0 0 0.870114 0 0 CELSR2 1952 broad.mit.edu 37 1 109806260 109806260 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:109806260G>A ENST00000271332.3 + 9 4923 c.4862G>A c.(4861-4863)gGc>gAc p.G1621D NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1621 Laminin G-like 2. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CACTTCCTGGGCAGCAGCCTG 0.652000 OREG0013632 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 41 0 0 0.870114 0 0 USP36 57602 broad.mit.edu 37 17 76794524 76794524 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:76794524G>A ENST00000312010.6 - 20 3674 c.3350C>T c.(3349-3351)gCc>gTc p.A1117V USP36_ENST00000542802.2_Missense_Mutation_p.A1117V|USP36_ENST00000449938.2_Missense_Mutation_p.A722V NM_025090.3 NP_079366.3 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 1115 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) GCTGAGGCTGGCAGCCTTTGC 0.542000 4 87 0 0 0.150653 0 0 MTOR 2475 broad.mit.edu 37 1 11182163 11182163 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:11182163A>G ENST00000361445.4 - 48 6759 c.6683T>C c.(6682-6684)aTc>aCc p.I2228T MTOR_ENST00000376838.1_Missense_Mutation_p.I433T NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 2228 PI3K/PI4K. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 CGATAAAGGGATGACAGCGTA 0.537000 15 20 0 0 0.520397 0 0 PRKD3 23683 broad.mit.edu 37 2 37501708 37501708 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:37501708C>T ENST00000379066.1 - 11 2269 c.1507G>A c.(1507-1509)Gac>Aac p.D503N PRKD3_ENST00000234179.2_Missense_Mutation_p.D503N O94806 KPCD3_HUMAN protein kinase D3 503 PH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.21) TGAGAGCTGTCCCCATTGTTC 0.448000 8 167 0 0 0.278610 0 0 TEX15 56154 broad.mit.edu 37 8 30701622 30701622 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:30701622T>C ENST00000256246.2 - 1 4986 c.4912A>G c.(4912-4914)Aag>Gag p.K1638E NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1638 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AGACAAACCTTAGTTTCTTCC 0.368000 7 130 0 0 0.248553 0 0 GCN1L1 10985 broad.mit.edu 37 12 120599736 120599736 + Missense_Mutation SNP C C G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:120599736C>G ENST00000300648.6 - 21 2302 c.2290G>C c.(2290-2292)Gcc>Ccc p.A764P NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 764 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGCATAATGGCAAACTCCTCC 0.582000 33 90 0 0 0.760397 0 0 TREML4 285852 broad.mit.edu 37 6 41197850 41197850 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:41197850T>C ENST00000341495.2 + 4 600 c.496T>C c.(496-498)Tct>Cct p.S166P TREML4_ENST00000448827.2_Missense_Mutation_p.S166P NM_198153.2 NP_937796.1 Q6UXN2 TRML4_HUMAN triggering receptor expressed on myeloid cells-like 4 166 extracellular region breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.196) CATCAATGGCTCTGAGACCAG 0.547000 75 108 0 0 0.870114 0 0 EPPK1 83481 broad.mit.edu 37 8 144941154 144941154 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:144941154G>A ENST00000525985.1 - 2 6339 c.6268C>T c.(6268-6270)Cgg>Tgg p.R2090W P58107 EPIPL_HUMAN epiplakin 1 2090 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) TCGGAGTCCCGTGCAGCCTTG 0.597000 10 163 0 0 0.361761 0 0 DSC3 1825 broad.mit.edu 37 18 28598103 28598103 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr18:28598103A>G ENST00000434452.1 - 9 1351 c.1197T>C c.(1195-1197)aaT>aaC p.N399N DSC3_ENST00000360428.4_Silent_p.N399N NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 399 Cadherin 3. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) GTCCATTTTCATTTCCCTTTA 0.303000 85 162 0 0 0.870114 0 0 GDF10 2662 broad.mit.edu 37 10 48429372 48429372 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:48429372G>A ENST00000224605.2 - 2 779 c.514C>T c.(514-516)Ctg>Ttg p.L172L NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 172 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 CGGAAGAGCAGGTGCTGGCGT 0.741000 4 20 0 0 0.217242 0 0 SH3GL2 6456 broad.mit.edu 37 9 17787382 17787382 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr9:17787382A>G ENST00000380607.4 + 5 456 c.336A>G c.(334-336)ccA>ccG p.P112P SH3GL2_ENST00000537391.1_Silent_p.P65P NM_003026.2 NP_003017.1 Q99962 SH3G2_HUMAN SH3-domain GRB2-like 2 112 BAR.|Binds and tubulates liposomes (By similarity). axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport cytosol|Golgi membrane|plasma membrane identical protein binding|lipid binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) TCCTAGGCCCAGCACTTGGTG 0.468000 55 61 0 0 0.870114 0 0 GLO1 2739 broad.mit.edu 37 6 38652183 38652183 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:38652183G>A ENST00000373365.4 - 3 361 c.275C>T c.(274-276)gCg>gTg p.A92V NM_006708.2 NP_006699.2 Q04760 LGUL_HUMAN glyoxalase I 92 anti-apoptosis|carbohydrate metabolic process cytoplasm lactoylglutathione lyase activity|metal ion binding lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 6 Glutathione(DB00143) TCTGGAGAGCGCCCAGGCTAT 0.303000 10 32 0 0 0.335167 0 0 TM2D2 83877 broad.mit.edu 37 8 38848862 38848862 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:38848862T>C ENST00000412303.1 - 4 899 c.505A>G c.(505-507)Act>Gct p.T169A TM2D2_ENST00000456845.2_Missense_Mutation_p.T169A|TM2D2_ENST00000456397.2_Missense_Mutation_p.T212A|TM2D2_ENST00000397070.2_Missense_Mutation_p.T169A NM_001024380.1|NM_001024381.1|NM_031940.3 NP_001019551.1|NP_001019552.1|NP_114146.3 Q9BX73 TM2D2_HUMAN TM2 domain containing 2 212 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;1.5e-07) TAGTAAACAGTGCACCAGTTG 0.483000 23 23 0 0 0.654019 0 0 TENM2 57451 broad.mit.edu 37 5 167654954 167654954 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:167654954A>G ENST00000519204.1 + 24 5094 c.4976A>G c.(4975-4977)tAt>tGt p.Y1659C TENM2_ENST00000520394.1_Missense_Mutation_p.Y1541C|TENM2_ENST00000518659.1_Missense_Mutation_p.Y1780C|TENM2_ENST00000545108.1_Missense_Mutation_p.Y1779C|TENM2_ENST00000403607.2_Missense_Mutation_p.Y1604C teneurin transmembrane protein 2 AGGGTGATGTATGCTAATGGG 0.517000 13 28 0 0 0.435327 0 0 ZNF221 7638 broad.mit.edu 37 19 44471168 44471168 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:44471168C>A ENST00000251269.5 + 6 1842 c.1514C>A c.(1513-1515)cCt>cAt p.P505H ZNF221_ENST00000592350.1_Missense_Mutation_p.P505H|ZNF221_ENST00000587682.1_Missense_Mutation_p.P505H NM_013359.2 NP_037491.2 Q9UK13 ZN221_HUMAN zinc finger protein 221 505 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 Prostate(69;0.0352) GGGGAAAAACCTTTCAAATGT 0.443000 62 111 2.53126e-37 2.82372e-37 0.870114 1 0 NLRC5 84166 broad.mit.edu 37 16 57060873 57060873 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:57060873C>A ENST00000436936.1 + 6 2243 c.2018C>A c.(2017-2019)cCc>cAc p.P673H NLRC5_ENST00000262510.6_Missense_Mutation_p.P673H|NLRC5_ENST00000539144.1_Missense_Mutation_p.P673H|NLRC5_ENST00000308149.7_Missense_Mutation_p.P673H Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 673 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) GATGGCTGTCCCCTGGAGCCC 0.597000 30 39 1.88708e-17 2.03485e-17 0.729181 1 0 ARFGEF2 10564 broad.mit.edu 37 20 47612354 47612354 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr20:47612354G>A ENST00000371917.4 + 23 3156 c.3156G>A c.(3154-3156)caG>caA p.Q1052Q NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 1052 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) ATAAAAGACAGATGGCCAGCT 0.433000 31 56 0 0 0.870114 0 0 C10orf137 26098 broad.mit.edu 37 10 127418872 127418872 + Silent SNP A A T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:127418872A>T ENST00000337623.3 + 8 1035 c.930A>T c.(928-930)ccA>ccT p.P310P C10orf137_ENST00000356792.4_Silent_p.P344P NM_015608.2 NP_056423.2 Q3B7T1 EDRF1_HUMAN chromosome 10 open reading frame 137 344 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) ACAACAAACCAATTAATGTGC 0.303000 79 149 0 0 0.870114 0 0 GPR149 344758 broad.mit.edu 37 3 154146817 154146817 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:154146817G>A ENST00000389740.2 - 1 687 c.588C>T c.(586-588)atC>atT p.I196I NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 196 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) AAGCGTACACGATAGAGAGGA 0.642000 30 57 0 0 0.717897 0 0 ANKH 56172 broad.mit.edu 37 5 14713040 14713040 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:14713040G>A ENST00000284268.6 - 11 1638 c.1308C>T c.(1306-1308)ggC>ggT p.G436G ANKH_ENST00000535119.1_Silent_p.G238G NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 436 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 CTCCCACAAAGCCCGCCAGGA 0.622000 12 21 0 0 0.479597 0 0 ANKRD13D 338692 broad.mit.edu 37 11 67068486 67068486 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:67068486G>A ENST00000447274.2 + 11 2013 c.838G>A c.(838-840)Gaa>Aaa p.E280K ANKRD13D_ENST00000515828.1_Missense_Mutation_p.E17K|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.E367K|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.E280K|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.E280K Q6ZTN6 AN13D_HUMAN ankyrin repeat domain 13 family, member D 280 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GTGGCTGAGTGAAGAGCACCC 0.602000 17 22 0 0 0.520397 0 0 FAM178A 55719 broad.mit.edu 37 10 102676519 102676519 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:102676519A>G ENST00000238961.3 + 3 525 c.377A>G c.(376-378)cAt>cGt p.H126R FAM178A_ENST00000370269.3_Missense_Mutation_p.H126R|FAM178A_ENST00000370271.3_Missense_Mutation_p.H126R NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A 126 CATGAAGATCATGGTATACAT 0.408000 27 152 0 0 0.717897 0 0 MYL1 4632 broad.mit.edu 37 2 211159122 211159122 + Missense_Mutation SNP C C G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:211159122C>G ENST00000352451.3 - 4 472 c.325G>C c.(325-327)Gag>Cag p.E109Q MYL1_ENST00000341685.4_Missense_Mutation_p.E65Q|MYL1_ENST00000496436.1_5'UTR NM_079420.2 NP_524144.1 P05976 MYL1_HUMAN myosin, light chain 1, alkali; skeletal, fast 109 muscle filament sliding|muscle organ development cytosol|muscle myosin complex|sarcomere calcium ion binding|structural constituent of muscle breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057) TGTTCAAACTCAATTTTCTTG 0.378000 57 107 0 0 0.870114 0 0 ETV1 2115 broad.mit.edu 37 7 13971309 13971309 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:13971309C>A ENST00000343495.5 - 8 1304 c.566G>T c.(565-567)gGa>gTa p.G189V ETV1_ENST00000405358.4_Missense_Mutation_p.G221V|ETV1_ENST00000405192.2_Missense_Mutation_p.G207V|ETV1_ENST00000420159.2_Missense_Mutation_p.G149V|ETV1_ENST00000403527.1_Missense_Mutation_p.G167V|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403685.1_Missense_Mutation_p.G189V|ETV1_ENST00000399357.3_Missense_Mutation_p.G104V|ETV1_ENST00000242066.5_Missense_Mutation_p.G189V|ETV1_ENST00000430479.1_Missense_Mutation_p.G207V|ETV1_ENST00000405218.2_Missense_Mutation_p.G207V P50549 ETV1_HUMAN ets variant 1 207 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 CATAGGACGTCCTTCCCTTGG 0.512000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 23 42 1.1804e-14 1.25989e-14 0.667858 1 0 TRPC4AP 26133 broad.mit.edu 37 20 33603887 33603887 + Missense_Mutation SNP T T A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr20:33603887T>A ENST00000252015.2 - 10 1363 c.1274A>T c.(1273-1275)gAc>gTc p.D425V TRPC4AP_ENST00000432634.2_Missense_Mutation_p.D386V|TRPC4AP_ENST00000451813.1_Missense_Mutation_p.D417V|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.D27V Q8TEL6 TP4AP_HUMAN transient receptor potential cation channel, subfamily C, member 4 associated protein 425 protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(18;0.00936) AATCAGTTTGTCAAACAAATT 0.458000 5 120 0 0 0.217242 0 0 ZNF544 27300 broad.mit.edu 37 19 58772838 58772838 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:58772838A>G ENST00000269829.4 + 7 1340 c.866A>G c.(865-867)aAg>aGg p.K289R CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596652.1_Missense_Mutation_p.K289R|ZNF544_ENST00000599953.1_Missense_Mutation_p.K147R|ZNF544_ENST00000600044.1_Missense_Mutation_p.K261R|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.K261R|ZNF544_ENST00000600220.1_Missense_Mutation_p.K261R NM_014480.2 NP_055295.2 Q6NX49 ZN544_HUMAN zinc finger protein 544 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 18 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) AATGAACAGAAGCCAGTGCAT 0.428000 71 91 0 0 0.870114 0 0 KIF24 347240 broad.mit.edu 37 9 34257489 34257489 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr9:34257489C>T ENST00000379166.2 - 11 2235 c.2116G>A c.(2116-2118)Gtg>Atg p.V706M KIF24_ENST00000345050.2_Missense_Mutation_p.V572M|KIF24_ENST00000379174.3_Missense_Mutation_p.V572M|KIF24_ENST00000402558.2_Missense_Mutation_p.V706M NM_194313.2 NP_919289.2 Q5T7B8 KIF24_HUMAN kinesin family member 24 706 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) ACTGTCTGCACTTTCTTGCAC 0.552000 85 95 0 0 0.870114 0 0 GYS1 2997 broad.mit.edu 37 19 49490607 49490607 + Silent SNP A A T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:49490607A>T ENST00000323798.3 - 3 532 c.336T>A c.(334-336)ccT>ccA p.P112P GYS1_ENST00000263276.6_Intron|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000540532.1_Silent_p.P32P|GYS1_ENST00000541188.1_Silent_p.P32P|GYS1_ENST00000544287.1_Intron NM_002103.4 NP_002094.2 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) 112 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) GCACCACCAGAGGGCCTCCCT 0.627000 7 18 0 0 0.307466 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215693 20215693 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr14:20215693T>C ENST00000331723.1 + 1 107 c.107T>C c.(106-108)aTt>aCt p.I36T NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTTTTTTACATTGCTATTGTC 0.383000 221 96 0 0 0.870114 0 0 AGBL1 123624 broad.mit.edu 37 15 86806023 86806023 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr15:86806023A>G ENST00000441037.2 + 9 941 c.846A>G c.(844-846)gaA>gaG p.E282E AGBL1_ENST00000389298.3_Silent_p.E13E|AGBL1_ENST00000421325.2_Silent_p.E282E NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 282 Asp-rich. C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 ATGACTTGGAAACAGACGTGA 0.428000 10 28 0 0 0.387290 0 0 OR4S2 219431 broad.mit.edu 37 11 55418395 55418395 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:55418395A>G ENST00000312422.2 + 1 16 c.16A>G c.(16-18)Aac>Gac p.N6D NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 6 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) AAAAATAAACAACGTAACTGA 0.323000 70 27 0 0 0.870114 0 0 MUC6 4588 broad.mit.edu 37 11 1028224 1028224 + Splice_Site SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:1028224A>G ENST00000421673.2 - 14 1804 c.e14+1 NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|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;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCGGACACTCACTGTTGAGCT 0.697000 3 2 0 0 0.115264 0 0 SLC38A11 151258 broad.mit.edu 37 2 165768159 165768159 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:165768159A>G ENST00000303735.4 - 8 1046 c.716T>C c.(715-717)tTt>tCt p.F239S SLC38A11_ENST00000409058.1_Missense_Mutation_p.F292S|SLC38A11_ENST00000409149.3_Missense_Mutation_p.F261S|SLC38A11_ENST00000409662.1_Missense_Mutation_p.F261S NM_173512.2 NP_775783.1 Q08AI6 S38AB_HUMAN solute carrier family 38, member 11 261 amino acid transport|sodium ion transport integral to membrane endometrium(2)|large_intestine(4)|lung(8)|ovary(1) 15 TCTTGTCACAAAGCATTCCAT 0.393000 6 81 0 0 0.248553 0 0 TMCC3 57458 broad.mit.edu 37 12 94975436 94975436 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:94975436A>G ENST00000261226.4 - 2 1088 c.957T>C c.(955-957)taT>taC p.Y319Y TMCC3_ENST00000551457.1_Silent_p.Y288Y NM_020698.2 NP_065749.2 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 319 integral to membrane NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 29 AAATAAAACCATATTCTCTCT 0.393000 18 115 0 0 0.624587 0 0 KCTD9 54793 broad.mit.edu 37 8 25290134 25290134 + Silent SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:25290134C>A ENST00000221200.4 - 11 1159 c.939G>T c.(937-939)gtG>gtT p.V313V NM_017634.3 NP_060104.2 Q7L273 KCTD9_HUMAN potassium channel tetramerization domain containing 9 313 Pentapeptide repeat 2. voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1) 12 all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438) CTTCCATATCCACACCTTTCA 0.393000 9 360 7.03913e-09 7.37265e-09 0.411799 1 0 PCDHA2 56146 broad.mit.edu 37 5 140176930 140176930 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:140176930T>C ENST00000526136.1 + 1 2381 c.2381T>C c.(2380-2382)gTa>gCa p.V794A PCDHA2_ENST00000378132.1_Missense_Mutation_p.V794A|PCDHA2_ENST00000520672.2_Missense_Mutation_p.V794A|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGAATACGTAGGAAAGGTG 0.403000 33 78 0 0 0.750413 0 0 GUCY2F 2986 broad.mit.edu 37 X 108631735 108631735 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chrX:108631735C>A ENST00000218006.2 - 15 3230 c.2939G>T c.(2938-2940)cGa>cTa p.R980L NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 980 Guanylate cyclase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 AAGGCCAATTCGAATTCGGAC 0.453000 117 113 2.98776e-44 3.34629e-44 0.870114 1 0 DENND4A 10260 broad.mit.edu 37 15 65962172 65962172 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr15:65962172C>T ENST00000443035.3 - 27 4944 c.4729G>A c.(4729-4731)Gcc>Acc p.A1577T DENND4A_ENST00000431932.2_Missense_Mutation_p.A1534T NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 1534 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 AGACCAGAGGCTGATGTTGAA 0.358000 6 52 0 0 0.217242 0 0 UBR5 51366 broad.mit.edu 37 8 103372381 103372381 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:103372381A>G ENST00000520539.1 - 5 910 c.304T>C c.(304-306)Tca>Cca p.S102P UBR5_ENST00000521922.1_Missense_Mutation_p.S102P|UBR5_ENST00000220959.4_Missense_Mutation_p.S102P NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 102 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CCAGGCCTTGACGTCCTCCCT 0.493000 3 106 0 0 0.115264 0 0 ZBTB4 57659 broad.mit.edu 37 17 7365705 7365705 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:7365705T>C ENST00000311403.4 - 4 2935 c.2596A>G c.(2596-2598)Agc>Ggc p.S866G ZBTB4_ENST00000380599.4_Missense_Mutation_p.S866G NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 866 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) TATACATAGCTGCCCCCGCTT 0.622000 13 29 0 0 0.479597 0 0 NELL1 4745 broad.mit.edu 37 11 20691274 20691274 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:20691274C>A ENST00000298925.5 + 1 158 c.5C>A c.(4-6)cCg>cAg p.P2Q NELL1_ENST00000325319.5_Missense_Mutation_p.P2Q|NELL1_ENST00000532434.1_Missense_Mutation_p.P2Q|NELL1_ENST00000357134.5_Missense_Mutation_p.P2Q Q92832 NELL1_HUMAN NEL-like 1 (chicken) 2 cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 AGAGCGATGCCGATGGATTTG 0.597000 16 36 3.32936e-07 3.46122e-07 0.539581 1 0 EXT1 2131 broad.mit.edu 37 8 119122871 119122871 + Nonsense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:119122871C>A ENST00000378204.2 - 1 1221 c.415G>T c.(415-417)Gag>Tag p.E139* NM_000127.2 NP_000118.2 Q16394 EXT1_HUMAN exostosin glycosyltransferase 1 139 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2) 38 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) CTGGAGCCCTCGATGGCCGCT 0.498000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Langer-Giedion syndrome;Hereditary Multiple Exostoses 67 108 4.13886e-29 4.57453e-29 0.870114 1 0 ATP10A 57194 broad.mit.edu 37 15 25966975 25966975 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr15:25966975A>G ENST00000356865.6 - 7 1303 c.1192T>C c.(1192-1194)Ttg>Ctg p.L398L NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 398 ATP biosynthetic process|regulation of cell shape 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(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TCGTCATACAACTGCATGTCC 0.428000 59 134 0 0 0.870114 0 0 KRR1 11103 broad.mit.edu 37 12 75900592 75900592 + Missense_Mutation SNP T T G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:75900592T>G ENST00000229214.4 - 3 386 c.363A>C c.(361-363)aaA>aaC p.K121N KRR1_ENST00000438169.2_Missense_Mutation_p.K121N NM_007043.6 NP_008974.5 Q13601 KRR1_HUMAN KRR1, small subunit (SSU) processome component, homolog (yeast) 121 rRNA processing nucleolus|ribonucleoprotein complex RNA binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1) 11 TTGCTAACAGTTTTATCAGAT 0.383000 75 118 0 0 0.870114 0 0 UCN3 114131 broad.mit.edu 37 10 5415994 5415994 + Missense_Mutation SNP G G T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:5415994G>T ENST00000380433.3 + 2 539 c.311G>T c.(310-312)aGg>aTg p.R104M NM_053049.2 NP_444277.2 Q969E3 UCN3_HUMAN urocortin 3 104 extracellular region hormone activity endometrium(1)|large_intestine(1) 2 GCACAGCCCAGGGGAAAGCCA 0.602000 10 10 1.58986e-06 1.64671e-06 0.361761 1 0 REV3L 5980 broad.mit.edu 37 6 111688861 111688861 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:111688861C>A ENST00000435970.1 - 16 6712 c.5896G>T c.(5896-5898)Gat>Tat p.D1966Y REV3L_ENST00000368802.3_Missense_Mutation_p.D2044Y|REV3L_ENST00000358835.3_Missense_Mutation_p.D2044Y|REV3L_ENST00000368805.1_Missense_Mutation_p.D2044Y O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 2044 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) GGTTTGTCATCTGGGTTAACT 0.413000 DNA polymerases (catalytic subunits) 105 212 2.12868e-59 2.40012e-59 0.870114 1 0 KBTBD6 89890 broad.mit.edu 37 13 41705364 41705364 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr13:41705364C>A ENST00000379485.1 - 1 1518 c.1284G>T c.(1282-1284)atG>atT p.M428I KBTBD6_ENST00000499385.2_Missense_Mutation_p.M362I NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 428 protein binding NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) ATGCCACATCCATGCCCTCAC 0.473000 56 133 2.43277e-16 2.61321e-16 0.870114 1 0 GRK4 2868 broad.mit.edu 37 4 3015545 3015545 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr4:3015545G>A ENST00000398052.4 + 8 1074 c.731G>A c.(730-732)aGt>aAt p.S244N GRK4_ENST00000345167.6_Missense_Mutation_p.S212N|GRK4_ENST00000398051.4_Missense_Mutation_p.S212N|GRK4_ENST00000504933.1_Missense_Mutation_p.S244N NM_182982.2 NP_892027.2 P32298 GRK4_HUMAN G protein-coupled receptor kinase 4 244 Protein kinase. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(1)|upper_aerodigestive_tract(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AAAGTGCAAAGTAGATTCGTA 0.398000 5 102 0 0 0.184627 0 0 ZFHX4 79776 broad.mit.edu 37 8 77775451 77775451 + Silent SNP T T A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:77775451T>A ENST00000521891.2 + 11 9949 c.9501T>A c.(9499-9501)ccT>ccA p.P3167P ZFHX4_ENST00000455469.2_Silent_p.P3122P|ZFHX4_ENST00000050961.6_Silent_p.P3118P|ZFHX4_ENST00000518282.1_Silent_p.P3141P NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3118 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) ctccaccacctcctcctcctc 0.522000 HNSCC(33;0.089) 5 8 0 0 0.217242 0 0 PTPRA 5786 broad.mit.edu 37 20 3002826 3002826 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr20:3002826T>C ENST00000216877.6 + 14 1661 c.1261T>C c.(1261-1263)Tgt>Cgt p.C421R PTPRA_ENST00000399903.2_Missense_Mutation_p.C430R|PTPRA_ENST00000318266.5_Missense_Mutation_p.C421R|PTPRA_ENST00000425918.2_Missense_Mutation_p.C441R|PTPRA_ENST00000380393.3_Missense_Mutation_p.C430R|PTPRA_ENST00000358719.4_Missense_Mutation_p.C286R|PTPRA_ENST00000356147.3_Missense_Mutation_p.C421R NM_080840.2 NP_543030.1 P18433 PTPRA_HUMAN protein tyrosine phosphatase, receptor type, A 430 Tyrosine-protein phosphatase 1. axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GGTGAAGGCCTGTAACCCTCA 0.587000 48 127 0 0 0.870114 0 0 GLA 2717 broad.mit.edu 37 X 100656700 100656700 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chrX:100656700G>A ENST00000218516.3 - 3 488 c.467C>T c.(466-468)gCc>gTc p.A156V RPL36A-HNRNPH2_ENST00000409170.3_Intron|GLA_ENST00000493905.1_5'UTR NM_000169.2 NP_000160.1 P06280 AGAL_HUMAN galactosidase, alpha 156 A -> T (in FD; dbSNP:rs28935195).|A -> V (in FD). glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process extracellular region|Golgi apparatus|lysosome cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding endometrium(1)|kidney(1)|large_intestine(4)|lung(8) 14 Agalsidase beta(DB00103) AAAGGTCTGGGCATCAATGTC 0.438000 5 210 0 0 0.184627 0 0 PIP4K2B 8396 broad.mit.edu 37 17 36927421 36927421 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:36927421G>A ENST00000269554.3 - 8 1392 c.912C>T c.(910-912)gaC>gaT p.D304D NM_003559.4 NP_003550.1 P78356 PI42B_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, beta 304 PIPK. cell surface receptor linked signaling pathway endoplasmic reticulum membrane|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1) 19 CACActcctcgtcctctgccc 0.607000 13 40 0 0 0.479597 0 0 TNXB 7148 broad.mit.edu 37 6 32017812 32017812 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:32017812G>A ENST00000375244.3 - 27 9603 c.9402C>T c.(9400-9402)ggC>ggT p.G3134G TNXB_ENST00000375247.2_Silent_p.G3132G P22105 TENX_HUMAN tenascin XB 3179 Fibronectin type-III 23. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CTACGCGCTGGCCACCGTGGA 0.637000 13 33 0 0 0.557998 0 0 CCDC88B 283234 broad.mit.edu 37 11 64108789 64108789 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:64108789G>A ENST00000356786.5 + 5 480 c.436G>A c.(436-438)Gcg>Acg p.A146T CCDC88B_ENST00000463837.1_3'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 146 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 ACTGTTGGGAGCGTCAGTACA 0.602000 28 70 0 0 0.750413 0 0 TAF9B 51616 broad.mit.edu 37 X 77387115 77387115 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chrX:77387115T>C ENST00000341864.5 - 7 842 c.748A>G c.(748-750)Att>Gtt p.I250V NM_015975.4 NP_057059.2 Q9HBM6 TAF9B_HUMAN TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa 250 negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 14 CCTTACATAATATCATTGTCA 0.343000 4 199 0 0 0.184627 0 0 AJUBA 84962 broad.mit.edu 37 14 23445902 23445902 + Translation_Start_Site SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr14:23445902C>A ENST00000397388.3 - 0 530 AJUBA_ENST00000262713.2_Missense_Mutation_p.K376N|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Missense_Mutation_p.K376N NM_198086.1 NP_932352.1 Q96IF1 JUB_HUMAN ajuba LIM protein cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding TGTAGAAAGCCTTGCAACGCA 0.527000 153 63 2.92728e-61 3.305e-61 0.870114 1 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100502181 100502181 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:100502181T>C ENST00000279907.7 - 2 402 c.190A>G c.(190-192)Aat>Gat p.N64D UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.N64D NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 64 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 GACGCTTTATTACAAAAAACT 0.363000 70 119 0 0 0.870114 0 0 VASP 7408 broad.mit.edu 37 19 46021017 46021017 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:46021017C>T ENST00000245932.6 + 2 458 c.102C>T c.(100-102)agC>agT p.S34S VASP_ENST00000586619.1_3'UTR NM_003370.3 NP_003361.1 P50552 VASP_HUMAN vasodilator-stimulated phosphoprotein 34 WH1. axon guidance|cell junction assembly|T cell receptor signaling pathway actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane actin binding|profilin binding|SH3 domain binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2) 18 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154) AGGCCTTCAGCCGCGTCCAGA 0.642000 4 67 0 0 0.150653 0 0 KCNA1 3736 broad.mit.edu 37 12 5020549 5020549 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:5020549C>T ENST00000382545.3 + 2 1112 c.5C>T c.(4-6)aCg>aTg p.T2M KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 2 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TCCACCATGACGGTGATGTCT 0.741000 10 19 0 0 0.411799 0 0 WNK2 65268 broad.mit.edu 37 9 96051602 96051602 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr9:96051602C>T ENST00000297954.4 + 20 4677 c.4677C>T c.(4675-4677)acC>acT p.T1559T WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Silent_p.T1134T|WNK2_ENST00000349097.3_Silent_p.T1171T|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Silent_p.T1522T Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1559 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 TGGGGCCCACCGTCCCCCCAC 0.711000 7 2 0 0 0.307466 0 0 MARCH8 220972 broad.mit.edu 37 10 45953840 45953840 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:45953840A>G ENST00000453424.2 - 8 1830 c.1569T>C c.(1567-1569)tgT>tgC p.C523C MARCH8_ENST00000395771.3_Silent_p.C241C|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395769.2_Silent_p.C241C|MARCH8_ENST00000319836.3_Silent_p.C241C Q5T0T0 MARH8_HUMAN membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase 241 cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(5)|lung(4) 12 TTGTTTCTGGACAGTTTTGAA 0.358000 80 226 0 0 0.870114 0 0 LRIG3 121227 broad.mit.edu 37 12 59274640 59274640 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:59274640C>T ENST00000320743.3 - 13 1810 c.1524G>A c.(1522-1524)caG>caA p.Q508Q LRIG3_ENST00000379141.4_Silent_p.Q448Q NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 508 Ig-like C2-type 1. integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) TTATTGCCGACTGTGTTTCTG 0.428000 T ROS1 NSCLC 109 221 0 0 0.870114 0 0 POLG2 11232 broad.mit.edu 37 17 62487033 62487033 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:62487033G>A ENST00000539111.2 - 4 916 c.849C>T c.(847-849)ggC>ggT p.G283G NM_007215.3 NP_009146.2 Q9UHN1 DPOG2_HUMAN polymerase (DNA directed), gamma 2, accessory subunit 283 DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation mitochondrial chromosome ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1) 15 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;4.97e-11) TTCCTTTCCGGCCTTCTTCAT 0.383000 5 207 0 0 0.217242 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111935618 111935618 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr13:111935618C>A ENST00000375741.2 + 17 2171 c.1921C>A c.(1921-1923)Ctg>Atg p.L641M ARHGEF7_ENST00000375736.4_Missense_Mutation_p.L463M|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.L385M|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.L591M|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.L548M|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.L620M|ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.L463M|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.L463M|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.L538M|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.L463M NM_001113511.1|NM_145735.2 NP_001106983.1|NP_663788.1 Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 641 apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) CTGGGGACCCCTGGAGCCTCC 0.706000 5 6 3.59834e-05 3.71784e-05 0.217242 1 0 NBPF10 100132406 broad.mit.edu 37 1 145367814 145367814 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:145367814A>G ENST00000342960.5 + 83 10445 c.10410A>G c.(10408-10410)ccA>ccG p.P3470P NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3470 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AAAACCCACCATGCCCCAGGT 0.428000 37 80 0 0 0.827153 0 0 KIAA1211 57482 broad.mit.edu 37 4 57182200 57182200 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr4:57182200G>A ENST00000504228.1 + 6 2637 c.2532G>A c.(2530-2532)ccG>ccA p.P844P KIAA1211_ENST00000264229.6_Silent_p.P844P|KIAA1211_ENST00000541073.1_Silent_p.P837P Q6ZU35 K1211_HUMAN KIAA1211 844 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) AAGCCTCACCGTTTGGAATAA 0.527000 18 15 0 0 0.592651 0 0 ZFPM2 23414 broad.mit.edu 37 8 106646501 106646501 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:106646501C>T ENST00000407775.2 + 5 698 c.448C>T c.(448-450)Ctg>Ttg p.L150L ZFPM2_ENST00000517361.1_Silent_p.L18L|ZFPM2_ENST00000520492.1_Silent_p.L18L NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 150 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) CCCAATGGTGCTGACTGCTGG 0.408000 11 17 0 0 0.457914 0 0 BAZ2B 29994 broad.mit.edu 37 2 160295144 160295144 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:160295144C>A ENST00000392783.2 - 8 1458 c.963G>T c.(961-963)caG>caT p.Q321H BAZ2B_ENST00000392782.1_Missense_Mutation_p.Q319H|BAZ2B_ENST00000355831.2_Missense_Mutation_p.Q321H|BAZ2B_ENST00000343439.5_Missense_Mutation_p.Q319H NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 321 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 TTCTTTTTTCCTGGGCTTTTT 0.423000 82 188 4.75426e-39 5.31768e-39 0.870114 1 0 MET 4233 broad.mit.edu 37 7 116371797 116371797 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:116371797C>T ENST00000397752.3 + 3 1476 c.1276C>T c.(1276-1278)Cgc>Tgc p.R426C MET_ENST00000436117.2_Missense_Mutation_p.R426C|MET_ENST00000318493.6_Missense_Mutation_p.R426C|MET_ENST00000495962.1_3'UTR NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 426 Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) AGCTTTGCAGCGCGTTGACTT 0.428000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 5 119 0 0 0.184627 0 0 ITIH2 3698 broad.mit.edu 37 10 7777015 7777015 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:7777015C>T ENST00000358415.4 + 15 2084 c.1918C>T c.(1918-1920)Ctg>Ttg p.L640L ITIH2_ENST00000379587.4_Silent_p.L629L NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 640 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TGAGCGCATGCTGGCGGATGC 0.617000 3 26 0 0 0.115264 0 0 GAPDHS 26330 broad.mit.edu 37 19 36029483 36029483 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:36029483A>G ENST00000222286.4 + 4 463 c.347A>G c.(346-348)tAc>tGc p.Y116C NM_014364.4 NP_055179.1 O14556 G3PT_HUMAN glyceraldehyde-3-phosphate dehydrogenase, spermatogenic 116 gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility cytosol glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(8) 11 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) NADH(DB00157) CCACAGGTGTACATGTTTAAG 0.522000 10 22 0 0 0.361761 0 0 RNF19A 25897 broad.mit.edu 37 8 101299911 101299911 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:101299911C>T ENST00000519449.1 - 3 808 c.492G>A c.(490-492)agG>agA p.R164R RNF19A_ENST00000341084.2_Silent_p.R164R NM_015435.3 NP_056250.3 Q9NV58 RN19A_HUMAN ring finger protein 19A, RBR E3 ubiquitin protein ligase 164 microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 30 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) AGATTTCTATCCTTAAATATT 0.373000 81 196 0 0 0.870114 0 0 RHCG 51458 broad.mit.edu 37 15 90021181 90021181 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr15:90021181C>T ENST00000268122.4 - 6 930 c.862G>A c.(862-864)Gca>Aca p.A288T RHCG_ENST00000544600.1_Missense_Mutation_p.A288T NM_016321.1 NP_057405.1 Q9UBD6 RHCG_HUMAN Rh family, C glycoprotein 288 amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(78;0.0237)|all_lung(78;0.0478) ACCCCTCCTGCGAGCGTGGCA 0.632000 23 41 0 0 0.639603 0 0 OR10G8 219869 broad.mit.edu 37 11 123900597 123900597 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:123900597G>A ENST00000431524.1 + 1 301 c.268G>A c.(268-270)Gct>Act p.A90T NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) AAGTGGCAGGGCTATCTCCTT 0.512000 15 95 0 0 0.812448 0 0 CCDC54 84692 broad.mit.edu 37 3 107096890 107096890 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:107096890A>G ENST00000261058.1 + 1 703 c.456A>G c.(454-456)atA>atG p.I152M NM_032600.2 NP_115989.1 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 152 NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 19 GCTCCACGATACATTGTCTAG 0.403000 38 90 0 0 0.812448 0 0 ANK3 288 broad.mit.edu 37 10 61967865 61967865 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:61967865C>T ENST00000280772.1 - 10 1314 c.1123G>A c.(1123-1125)Gcc>Acc p.A375T ANK3_ENST00000373827.2_Missense_Mutation_p.A369T|ANK3_ENST00000503366.1_Missense_Mutation_p.A358T NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 375 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CCACAGTGGGCAGCCACGTGT 0.522000 28 57 0 0 0.796494 0 0 MT-CYB 4519 broad.mit.edu 37 MT 14846 14846 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chrM:14846G>A ENST00000361789.2 + 1 100 c.100G>A c.(100-102)Ggc>Agc p.34_34insS mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 GATGAAACTTCGGCTCACTCC 0.483000 7 0 0 0 0.278610 0 0 OLAH 55301 broad.mit.edu 37 10 15113840 15113840 + Missense_Mutation SNP T T A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:15113840T>A ENST00000378217.3 + 8 965 c.778T>A c.(778-780)Ttt>Att p.F260I OLAH_ENST00000378228.3_Missense_Mutation_p.F207I|OLAH_ENST00000485251.1_Intron NM_018324.2 NP_060794.1 Q9NV23 SAST_HUMAN oleoyl-ACP hydrolase 207 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity endometrium(2)|large_intestine(1)|lung(14)|stomach(1) 18 CTTGACATGTTTTGTTGGATC 0.328000 98 180 0 0 0.870114 0 0 MYLK4 340156 broad.mit.edu 37 6 2689172 2689172 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:2689172G>A ENST00000274643.7 - 4 596 c.254C>T c.(253-255)cCg>cTg p.P85L MYLK4_ENST00000268446.5_Missense_Mutation_p.P85L NM_001012418.3 NP_001012418.2 Q86YV6 MYLK4_HUMAN myosin light chain kinase family, member 4 85 ATP binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Ovarian(93;0.0412) all_hematologic(90;0.0897) AAATGGGGCCGGAGGAGCCGG 0.502000 5 306 0 0 0.184627 0 0 APOB 338 broad.mit.edu 37 2 21233356 21233356 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:21233356T>C ENST00000233242.1 - 26 6511 c.6384A>G c.(6382-6384)tcA>tcG p.S2128S NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2128 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CCCAATTGAATGAATTCAGAT 0.358000 31 82 0 0 0.760397 0 0 ASB10 136371 broad.mit.edu 37 7 150883716 150883716 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:150883716A>G ENST00000422024.1 - 2 607 c.482T>C c.(481-483)cTg>cCg p.L161P ASB10_ENST00000275838.1_Missense_Mutation_p.L116P|ASB10_ENST00000434669.1_Missense_Mutation_p.L161P|ASB10_ENST00000420175.2_Missense_Mutation_p.L116P|ASB10_ENST00000377867.3_Missense_Mutation_p.L101P NM_001142459.1 NP_001135931.2 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box containing 10 116 intracellular signal transduction NS(1)|endometrium(2)|lung(7)|skin(2) 12 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGGGGTGGTCAGCTCCTCTTC 0.662000 3 16 0 0 0.115264 0 0 BSCL2 26580 broad.mit.edu 37 11 62462149 62462149 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:62462149A>G ENST00000433053.1 - 5 1077 c.521T>C c.(520-522)tTa>tCa p.L174S BSCL2_ENST00000405837.1_Missense_Mutation_p.L174S|BSCL2_ENST00000537604.1_5'UTR|BSCL2_ENST00000278893.7_Missense_Mutation_p.L110S|BSCL2_ENST00000421906.1_Missense_Mutation_p.L110S|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000360796.5_Missense_Mutation_p.L174S|BSCL2_ENST00000403550.1_Missense_Mutation_p.L110S|BSCL2_ENST00000407022.3_Missense_Mutation_p.L110S Q96G97 BSCL2_HUMAN Berardinelli-Seip congenital lipodystrophy 2 (seipin) 110 cell death integral to endoplasmic reticulum membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 12 CTCAAGCTCTAAGGTAACACG 0.448000 OREG0021029 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 42 0 0 0.624587 0 0 VWF 7450 broad.mit.edu 37 12 6122671 6122671 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:6122671A>G ENST00000261405.5 - 32 5850 c.5596T>C c.(5596-5598)Tcc>Ccc p.S1866P NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 1866 VWFA 3; main binding site for collagens type I and III. 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) TGGAGGAAGGAATTGCCCAAG 0.483000 9 148 0 0 0.307466 0 0 PAG1 55824 broad.mit.edu 37 8 81897572 81897572 + Silent SNP G G A rs113484085 TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:81897572G>A ENST00000220597.4 - 7 1025 c.315C>T c.(313-315)taC>taT p.Y105Y NM_018440.3 NP_060910.3 Q9NWQ8 PAG1_HUMAN phosphoprotein associated with glycosphingolipid microdomains 1 105 epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding|SH3/SH2 adaptor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2) 11 Lung NSC(7;5.76e-06)|all_lung(9;2e-05) BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197) GGACTTCCTCGTAATGCTGCA 0.498000 21 38 0 0 0.639603 0 0 ITGAX 3687 broad.mit.edu 37 16 31374511 31374511 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:31374511T>C ENST00000268296.4 + 14 1647 c.1526T>C c.(1525-1527)gTt>gCt p.V509A ITGAX_ENST00000562522.1_Missense_Mutation_p.V509A NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 509 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 TGTGATGCTGTTCTCTACGGG 0.642000 61 146 0 0 0.870114 0 0 CTAGE1 64693 broad.mit.edu 37 18 19996082 19996082 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr18:19996082C>T ENST00000391403.2 - 1 1796 c.1693G>A c.(1693-1695)Gca>Aca p.A565T NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 565 integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) CACGGAGGTGCCAGGGGCCCA 0.498000 36 80 0 0 0.812448 0 0 HECW2 57520 broad.mit.edu 37 2 197092917 197092917 + Missense_Mutation SNP G G T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:197092917G>T ENST00000260983.2 - 22 4008 c.3826C>A c.(3826-3828)Cca>Aca p.P1276T HECW2_ENST00000409111.1_Missense_Mutation_p.P920T NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 1276 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 CCATAATATGGGTTAAAGAGT 0.353000 43 84 6.2361e-21 6.82074e-21 0.834066 1 0 HNRNPUL2 221092 broad.mit.edu 37 11 62489666 62489666 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:62489666A>G ENST00000301785.5 - 7 1474 c.1282T>C c.(1282-1284)Ttt>Ctt p.F428L RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.F428L NM_001079559.2 NP_001073027.1 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 2 428 cell killing nucleus ATP binding|nucleic acid binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 ATGAACACAAACTCTTCTGGT 0.502000 3 182 0 0 0.115264 0 0 ZFHX3 463 broad.mit.edu 37 16 72993580 72993580 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:72993580G>A ENST00000268489.5 - 2 1137 c.465C>T c.(463-465)ggC>ggT p.G155G ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 155 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TCCCACAGGCGCCCCCGCCCT 0.672000 16 37 0 0 0.608945 0 0 KIF13B 23303 broad.mit.edu 37 8 28967545 28967545 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:28967545C>T ENST00000524189.1 - 33 4011 c.3973G>A c.(3973-3975)Gca>Aca p.A1325T NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 1325 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) ACATTGGCTGCCATTCTTGCT 0.463000 4 6 0 0 0.184627 0 0 SOGA2 23255 broad.mit.edu 37 18 8793021 8793021 + Missense_Mutation SNP A A T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr18:8793021A>T ENST00000359865.3 + 8 2055 c.1913A>T c.(1912-1914)gAg>gTg p.E638V SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000518815.1_Intron NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 980 GTTTTACCTGAGCAGAGTGTA 0.527000 65 107 0 0 0.870114 0 0 ENPP7 339221 broad.mit.edu 37 17 77710966 77710966 + Missense_Mutation SNP G G A rs140556423 TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:77710966G>A ENST00000328313.5 + 4 1374 c.1153G>A c.(1153-1155)Gtc>Atc p.V385I NM_178543.3 NP_848638.2 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 7 385 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3) 34 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CTTTGAGAGCGTCCACGTGTA 0.627000 26 28 0 0 0.667858 0 0 STX11 8676 broad.mit.edu 37 6 144508482 144508482 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:144508482G>A ENST00000367568.4 + 2 901 c.718G>A c.(718-720)Gac>Aac p.D240N NM_003764.3 NP_003755.2 O75558 STX11_HUMAN syntaxin 11 240 t-SNARE coiled-coil homology. cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) GAAGCAGGCCGACACCCTGAA 0.627000 Familial Hemophagocytic Lymphohistiocytosis 12 30 0 0 0.387290 0 0 MYH4 4622 broad.mit.edu 37 17 10348583 10348583 + Nonsense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:10348583C>A ENST00000255381.2 - 36 5376 c.5266G>T c.(5266-5268)Gag>Tag p.E1756* CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1756 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GCCTTCTCCTCTGCATTGCGG 0.468000 16 249 3.32936e-07 3.46122e-07 0.539581 1 0 LUZP2 338645 broad.mit.edu 37 11 24518815 24518815 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:24518815T>C ENST00000336930.6 + 1 92 c.26T>C c.(25-27)cTg>cCg p.L9P LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000533227.1_5'UTR Q86TE4 LUZP2_HUMAN leucine zipper protein 2 9 extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 GCGCACTACCTGCTGCCTCTC 0.652000 6 16 0 0 0.361761 0 0 PHYHIP 9796 broad.mit.edu 37 8 22078925 22078925 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:22078925T>C ENST00000454243.2 - 5 1508 c.934A>G c.(934-936)Act>Gct p.T312A PHYHIP_ENST00000321613.3_Missense_Mutation_p.T312A NM_014759.3 NP_055574.3 Q92561 PHYIP_HUMAN phytanoyl-CoA 2-hydroxylase interacting protein 312 endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 10 Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629) GCATCGGCAGTAGACAGACTC 0.637000 21 50 0 0 0.729181 0 0 DPP3 10072 broad.mit.edu 37 11 66262690 66262690 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:66262690C>T ENST00000532677.1 + 13 1861 c.1460C>T c.(1459-1461)gCa>gTa p.A487V DPP3_ENST00000541961.1_Missense_Mutation_p.A468V|DPP3_ENST00000453114.1_Missense_Mutation_p.A468V|DPP3_ENST00000530165.1_Missense_Mutation_p.A438V|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000360510.2_Missense_Mutation_p.A468V|DPP3_ENST00000531863.1_Missense_Mutation_p.A488V NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 468 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 GAAAAAGGAGCATTCAACTTT 0.612000 25 62 0 0 0.717897 0 0 ABCC4 10257 broad.mit.edu 37 13 95822853 95822853 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr13:95822853A>G ENST00000376887.4 - 14 1871 c.1757T>C c.(1756-1758)aTc>aCc p.I586T ABCC4_ENST00000536256.1_Missense_Mutation_p.I511T|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000431522.1_Missense_Mutation_p.I586T|ABCC4_ENST00000412704.1_Missense_Mutation_p.I586T NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 586 ABC transporter 1. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TAAAATTGTGATCTTCTCATG 0.368000 23 45 0 0 0.681144 0 0 ILF3 3609 broad.mit.edu 37 19 10787852 10787852 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:10787852A>G ENST00000449870.1 + 5 742 c.425A>G c.(424-426)gAc>gGc p.D142G ILF3_ENST00000420083.1_Missense_Mutation_p.D142G|ILF3_ENST00000588657.1_Missense_Mutation_p.D142G|ILF3_ENST00000589998.1_Missense_Mutation_p.D142G|ILF3_ENST00000250241.8_Missense_Mutation_p.D142G|ILF3_ENST00000592763.1_Missense_Mutation_p.D142G|ILF3_ENST00000318511.3_Missense_Mutation_p.D142G|ILF3_ENST00000590261.1_Missense_Mutation_p.D142G|ILF3_ENST00000407004.3_Missense_Mutation_p.D142G NM_017620.2 NP_060090.2 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3, 90kDa 142 DZF. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) GTAACAGAAGACAAGTACGAA 0.403000 8 185 0 0 0.307466 0 0 APOBEC3D 140564 broad.mit.edu 37 22 39425422 39425422 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr22:39425422A>G ENST00000216099.7 + 5 1067 c.660A>G c.(658-660)ctA>ctG p.L220L APOBEC3D_ENST00000381568.4_Silent_p.L220L|APOBEC3D_ENST00000427494.2_Intron NM_152426.3 NP_689639.2 Q96AK3 ABC3D_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D 220 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2) 11 Melanoma(58;0.04) TTAAAAACCTACTGAAAGCCT 0.512000 51 45 0 0 0.870114 0 0 ARID1B 57492 broad.mit.edu 37 6 157521896 157521896 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:157521896G>A ENST00000346085.5 + 18 4169 c.4168G>A c.(4168-4170)Gac>Aac p.D1390N ARID1B_ENST00000350026.5_Missense_Mutation_p.D1377N|ARID1B_ENST00000275248.4_Missense_Mutation_p.D1372N|ARID1B_ENST00000367148.1_Missense_Mutation_p.D1430N NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1377 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CCACGAGGGCGACATGTACAA 0.557000 5 119 0 0 0.217242 0 0 G3BP1 10146 broad.mit.edu 37 5 151183518 151183518 + Nonsense_Mutation SNP C C T rs140218237 TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:151183518C>T ENST00000394123.3 + 12 1412 c.1267C>T c.(1267-1269)Cga>Tga p.R423* G3BP1_ENST00000543466.1_Nonsense_Mutation_p.R241*|G3BP1_ENST00000356245.3_Nonsense_Mutation_p.R423* Q13283 G3BP1_HUMAN GTPase activating protein (SH3 domain) binding protein 1 423 Ras protein signal transduction|transport cytosol|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding p.R423*(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2) 29 all_hematologic(541;0.0338)|Medulloblastoma(196;0.091) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) GGAAGGCGACCGACGAGATAA 0.572000 51 97 0 0 0.870114 0 0 ARRB1 408 broad.mit.edu 37 11 74985123 74985123 + Silent SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:74985123G>A ENST00000420843.2 - 11 1006 c.909C>T c.(907-909)agC>agT p.S303S ARRB1_ENST00000393505.4_Silent_p.S303S|ARRB1_ENST00000360025.3_Silent_p.S303S NM_004041.4 NP_004032.2 P49407 ARRB1_HUMAN arrestin, beta 1 303 G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding breast(4)|large_intestine(2)|lung(4)|prostate(1) 11 CTCACAGGGTGCTAGAGGCCA 0.602000 19 245 0 0 0.557998 0 0 EIF4A3 9775 broad.mit.edu 37 17 78113889 78113889 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:78113889A>G ENST00000269349.3 - 5 644 c.423T>C c.(421-423)atT>atC p.I141I NM_014740.3 NP_055555.1 P38919 IF4A3_HUMAN eukaryotic translation initiation factor 4A3 141 Helicase ATP-binding. mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 10 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) TGGTGCCTCCAATGCAGGCAT 0.542000 35 58 0 0 0.796494 0 0 PTGFRN 5738 broad.mit.edu 37 1 117491858 117491858 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:117491858A>G ENST00000393203.2 + 4 1024 c.877A>G c.(877-879)Aag>Gag p.K293E NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 293 Ig-like C2-type 3. endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) GGCTGAAGGAAAGGAACTGGA 0.498000 55 41 0 0 0.870114 0 0 SLC3A2 6520 broad.mit.edu 37 11 62623778 62623778 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:62623778G>A ENST00000377892.1 + 1 261 c.37G>A c.(37-39)Gtg>Atg p.V13M SLC3A2_ENST00000535296.1_Missense_Mutation_p.V13M|SLC3A2_ENST00000377889.2_Missense_Mutation_p.V13M|SLC3A2_ENST00000377890.2_Missense_Mutation_p.V13M|SLC3A2_ENST00000377891.2_Missense_Mutation_p.V13M P08195 4F2_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 2 13 blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2) 22 GATCGCCGTCGTGTCGATTCC 0.632000 31 83 0 0 0.834066 0 0 OR10G7 390265 broad.mit.edu 37 11 123909233 123909233 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:123909233G>A ENST00000330487.5 - 1 484 c.476C>T c.(475-477)aCc>aTc p.T159I NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) AGTCAATATGGTCTGGACAGC 0.572000 9 317 0 0 0.500413 0 0 CXXC1 30827 broad.mit.edu 37 18 47812979 47812979 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr18:47812979A>G ENST00000285106.6 - 3 867 c.153T>C c.(151-153)caT>caC p.H51H CXXC1_ENST00000412036.2_Silent_p.H51H|CXXC1_ENST00000589940.1_Silent_p.H51H|CXXC1_ENST00000587396.1_5'UTR NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 51 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 TGCAGTCCCCATGGAACCACT 0.632000 46 136 0 0 0.870114 0 0 KIAA0319 9856 broad.mit.edu 37 6 24559327 24559327 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:24559327G>A ENST00000535378.1 - 18 3263 c.2621C>T c.(2620-2622)gCt>gTt p.A874V KIAA0319_ENST00000543707.1_Missense_Mutation_p.A883V|KIAA0319_ENST00000378214.3_Missense_Mutation_p.A883V|KIAA0319_ENST00000537886.1_Missense_Mutation_p.A883V|KIAA0319_ENST00000430948.2_Missense_Mutation_p.A838V NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 883 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 GGCCACTTCAGCAGCTTTGAG 0.507000 5 31 0 0 0.184627 0 0 LRP2 4036 broad.mit.edu 37 2 170030631 170030631 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:170030631T>C ENST00000263816.3 - 56 11097 c.10812A>G c.(10810-10812)aaA>aaG p.K3604K NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3604 LDL-receptor class A 28. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GGATGCAACGTTTGTTGGCGC 0.507000 38 57 0 0 0.812448 0 0 RNF14 9604 broad.mit.edu 37 5 141357883 141357883 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:141357883A>G ENST00000394520.2 + 5 631 c.322A>G c.(322-324)Aag>Gag p.K108E RNF14_ENST00000394514.2_5'UTR|RNF14_ENST00000394519.1_Missense_Mutation_p.K108E|RNF14_ENST00000347642.3_Missense_Mutation_p.K108E|RNF14_ENST00000394515.3_Intron|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000356143.1_Missense_Mutation_p.K108E|RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA NM_001201365.1|NM_004290.4 NP_001188294.1|NP_004281.1 Q9UBS8 RNF14_HUMAN ring finger protein 14 108 RWD. androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_hematologic(541;0.0536)|Ovarian(839;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) TGCTCTATGCAAGCACTTAGA 0.448000 44 93 0 0 0.864702 0 0 TSHR 7253 broad.mit.edu 37 14 81609994 81609994 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr14:81609994G>A ENST00000541158.2 + 11 1914 c.1592G>A c.(1591-1593)cGg>cAg p.R531Q TSHR_ENST00000298171.2_Missense_Mutation_p.R531Q|RP11-114N19.3_ENST00000557775.1_RNA P16473 TSHR_HUMAN thyroid stimulating hormone receptor 531 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) CGCCTGGACCGGAAGATCCGC 0.567000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 84 22 0 0 0.870114 0 0 HOXC11 3227 broad.mit.edu 37 12 54367383 54367383 + Missense_Mutation SNP T T A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:54367383T>A ENST00000546378.1 + 1 474 c.358T>A c.(358-360)Tcc>Acc p.S120T HOTAIR_ENST00000455246.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.S120T|HOTAIR_ENST00000424518.1_RNA O43248 HXC11_HUMAN homeobox C11 120 endoderm development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 AAACGAAGGCTCCTACGGCGG 0.637000 T NUP98 AML 81 116 0 0 0.870114 0 0 MCOLN1 57192 broad.mit.edu 37 19 7595355 7595355 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:7595355G>A ENST00000264079.6 + 12 1668 c.1543G>A c.(1543-1545)Gcg>Acg p.A515T NM_020533.2 NP_065394.1 Q9GZU1 MCLN1_HUMAN mucolipin 1 515 calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CCTCTTCATCGCGCTCATCAC 0.622000 122 84 0 0 0.870114 0 0 ZNF12 7559 broad.mit.edu 37 7 6731351 6731351 + Missense_Mutation SNP G G C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:6731351G>C ENST00000405858.1 - 5 1763 c.1222C>G c.(1222-1224)Ctc>Gtc p.L408V ZNF12_ENST00000404360.1_Missense_Mutation_p.L334V|ZNF12_ENST00000342651.5_Missense_Mutation_p.L370V|AC073343.13_ENST00000366167.2_RNA NM_006956.2|NM_016265.3 NP_008887.2|NP_057349.2 P17014 ZNF12_HUMAN zinc finger protein 12 408 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3) 16 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) CACTTGTAGAGTTTCACACCT 0.453000 19 60 0 0 0.539581 0 0 ASB13 79754 broad.mit.edu 37 10 5690974 5690974 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:5690974G>A ENST00000357700.6 - 4 502 c.476C>T c.(475-477)gCc>gTc p.A159V ASB13_ENST00000479033.1_5'UTR NM_024701.3 NP_078977.2 Q8WXK3 ASB13_HUMAN ankyrin repeat and SOCS box containing 13 159 intracellular signal transduction protein binding NS(1)|endometrium(3)|lung(3)|ovary(1) 8 GBM - Glioblastoma multiforme(2;9.59e-09) ATGCTCCCGGGCACAGGCAAC 0.572000 21 60 0 0 0.654019 0 0 ST3GAL4 6484 broad.mit.edu 37 11 126283516 126283516 + Silent SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:126283516T>C ENST00000526727.1 + 9 1262 c.888T>C c.(886-888)taT>taC p.Y296Y ST3GAL4_ENST00000356132.4_Silent_p.Y302Y|ST3GAL4_ENST00000530591.1_Silent_p.Y292Y|ST3GAL4_ENST00000534457.1_Silent_p.Y291Y|ST3GAL4_ENST00000532243.1_Silent_p.Y295Y|ST3GAL4_ENST00000444328.2_Silent_p.Y296Y|ST3GAL4_ENST00000534083.1_Silent_p.Y296Y|ST3GAL4_ENST00000392669.2_Silent_p.Y296Y|ST3GAL4_ENST00000449406.2_Silent_p.Y285Y|ST3GAL4_ENST00000227495.6_Silent_p.Y292Y Q11206 SIA4C_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 4 296 post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity endometrium(1)|large_intestine(2)|lung(5)|stomach(1) 9 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767) TTCACTACTATGAGCAGATCA 0.587000 5 85 0 0 0.217242 0 0 FREM2 341640 broad.mit.edu 37 13 39262566 39262566 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr13:39262566C>A ENST00000280481.7 + 1 1301 c.1085C>A c.(1084-1086)cCa>cAa p.P362Q NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 362 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CTTACTTCTCCATTCCAGCCT 0.577000 29 81 9.04072e-19 9.82432e-19 0.779181 1 0 USP13 8975 broad.mit.edu 37 3 179478997 179478997 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:179478997C>T ENST00000263966.3 + 17 2517 c.2046C>T c.(2044-2046)ggC>ggT p.G682G USP13_ENST00000496897.1_Silent_p.G617G NM_003940.2 NP_003931.2 Q92995 UBP13_HUMAN ubiquitin specific peptidase 13 (isopeptidase T-3) 682 UBA 1. ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 46 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) GAAATATGGGCGCCGAGGTGG 0.522000 8 200 0 0 0.307466 0 0 KPNA1 3836 broad.mit.edu 37 3 122170886 122170886 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:122170886G>A ENST00000344337.6 - 7 766 c.590C>T c.(589-591)gCt>gTt p.A197V KPNA1_ENST00000466923.1_5'UTR NM_002264.3 NP_002255.3 P52294 IMA1_HUMAN karyopherin alpha 1 (importin alpha 5) 197 NLS binding site (major) (By similarity). DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein binding|protein transporter activity NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 21 GBM - Glioblastoma multiforme(114;0.0898) ACTATCTCCAGCAATGTTGCC 0.378000 60 334 0 0 0.870114 0 0 ZNF236 7776 broad.mit.edu 37 18 74587548 74587548 + Silent SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr18:74587548C>A ENST00000253159.8 + 6 960 c.762C>A c.(760-762)gcC>gcA p.A254A ZNF236_ENST00000320610.9_Silent_p.A256A NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 254 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) AACCCCATGCCTGTGCCTTCT 0.532000 OREG0025069 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 76 108 6.43283e-47 7.21438e-47 0.870114 1 0 LRPPRC 10128 broad.mit.edu 37 2 44175571 44175571 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:44175571A>G ENST00000260665.7 - 17 1879 c.1822T>C c.(1822-1824)Ttc>Ctc p.F608L NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 608 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AGCTGATGGAAGTATTGTCTC 0.388000 63 120 0 0 0.870114 0 0 DSP 1832 broad.mit.edu 37 6 7583192 7583192 + Silent SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:7583192C>A ENST00000379802.3 + 24 6038 c.5697C>A c.(5695-5697)atC>atA p.I1899I DSP_ENST00000418664.2_Silent_p.I1300I NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1899 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GGAGTGAGATCGAAAGACTCC 0.458000 33 75 1.80694e-10 1.90682e-10 0.740014 1 0 SLITRK6 84189 broad.mit.edu 37 13 86368261 86368261 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr13:86368261C>T ENST00000400286.2 - 2 2981 c.2383G>A c.(2383-2385)Gaa>Aaa p.E795K NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 795 integral to membrane p.E795K(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TTCAGCTCTTCGTGGGCTCCA 0.393000 108 181 0 0 0.870114 0 0 CAMKK1 84254 broad.mit.edu 37 17 3775908 3775908 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:3775908T>C ENST00000381771.2 - 13 1325 c.1178A>G c.(1177-1179)gAc>gGc p.D393G CAMKK1_ENST00000348335.2_Missense_Mutation_p.D355G|CAMKK1_ENST00000381769.2_Missense_Mutation_p.D382G|CAMKK1_ENST00000158166.5_Missense_Mutation_p.D393G Q8N5S9 KKCC1_HUMAN calcium/calmodulin-dependent protein kinase kinase 1, alpha 355 Protein kinase. synaptic transmission cytosol|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 11 LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176) GATGAAATCGTCGATGAATGG 0.612000 10 39 0 0 0.411799 0 0 THADA 63892 broad.mit.edu 37 2 43801837 43801837 + Missense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:43801837G>A ENST00000403856.1 - 12 1514 c.1367C>T c.(1366-1368)aCg>aTg p.T456M THADA_ENST00000415080.2_Missense_Mutation_p.T166M|THADA_ENST00000405975.2_Missense_Mutation_p.T456M|THADA_ENST00000405006.4_Missense_Mutation_p.T456M|THADA_ENST00000330266.7_Missense_Mutation_p.T166M|THADA_ENST00000402360.2_Missense_Mutation_p.T456M|THADA_ENST00000404790.1_Missense_Mutation_p.T456M Q6YHU6 THADA_HUMAN thyroid adenoma associated 456 binding p.T456M(1) breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) ACCAAGGCACGTGTACTTTCC 0.418000 9 213 0 0 0.335167 0 0 PAQR7 164091 broad.mit.edu 37 1 26189565 26189567 + In_Frame_Del DEL AGA AGA - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:26189565_26189567delAGA ENST00000374296.3 - 2 1430_1432 c.764_766delTCT c.(763-768)tct>t p.FS255del RP1-125I3.2_ENST00000455431.1_RNA NM_178422.5 NP_848509.1 Q86WK9 MPRA_HUMAN progestin and adipoQ receptor family member VII 255 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 9 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649) ATGAAGGTAGAGAAGAAGGCAGC 0.576 18 19 --- --- --- --- EPB41 2035 broad.mit.edu 37 1 29314068 29314068 + Frame_Shift_Del DEL A A - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:29314068delA ENST00000343067.4 + 2 246 c.119delA c.(118-120)cafs p.Q40fs EPB41_ENST00000398863.2_Frame_Shift_Del_p.Q40fs|EPB41_ENST00000373797.1_Frame_Shift_Del_p.Q40fs|EPB41_ENST00000373798.1_Frame_Shift_Del_p.Q40fs|EPB41_ENST00000356093.2_Frame_Shift_Del_p.Q40fs|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000347529.3_Frame_Shift_Del_p.Q40fs|EPB41_ENST00000373800.3_5'UTR NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 40 blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) GAATCTTGTCAAACAGCAGCT 0.468 106 82 --- --- --- --- TINAGL1 64129 broad.mit.edu 37 1 32050813 32050813 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:32050813delC ENST00000271064.7 + 8 995 c.919delC c.(919-921)ccfs p.P308fs TINAGL1_ENST00000457433.2_Frame_Shift_Del_p.P277fs|TINAGL1_ENST00000481165.1_3'UTR NM_001204415.1|NM_022164.2 NP_001191344.1|NP_071447.1 Q9GZM7 TINAL_HUMAN tubulointerstitial nephritis antigen-like 1 308 endosome transport|immune response|proteolysis extracellular region cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145) TGGCCCTGCGCCCCCCTGTAT 0.602 11 116 --- --- --- --- FAAH 2166 broad.mit.edu 37 1 46871324 46871324 + Frame_Shift_Del DEL G G - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:46871324delG ENST00000243167.8 + 5 727 c.643delG c.(643-645)ggfs p.G216fs FAAH_ENST00000493735.1_3'UTR NM_001441.2 NP_001432.2 O00519 FAAH1_HUMAN fatty acid amide hydrolase 216 fatty acid catabolic process cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 22 Acute lymphoblastic leukemia(166;0.155) Propofol(DB00818)|Thiopental(DB00599) CAAAAGCCCAGGGGGCTCCTC 0.627 70 111 --- --- --- --- SYCP1 6847 broad.mit.edu 37 1 115527421 115527421 + Frame_Shift_Del DEL A A - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:115527421delA ENST00000369522.3 + 30 2875 c.2635delA c.(2635-2637)aafs p.K881fs SYCP1_ENST00000369518.1_Frame_Shift_Del_p.K881fs|SYCP1_ENST00000477590.1_Intron NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 881 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding p.K881fs*21(1) RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TGAAGAAAGTAAAAAAAAGAG 0.264 8 156 --- --- --- --- PI4KB 5298 broad.mit.edu 37 1 151288484 151288484 + Frame_Shift_Del DEL G G - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:151288484delG ENST00000368875.2 - 3 1090 c.510delC c.(508-510)gcfs p.A170fs PI4KB_ENST00000368874.4_Frame_Shift_Del_p.A158fs|PI4KB_ENST00000368872.1_Frame_Shift_Del_p.A158fs|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000271657.5_Frame_Shift_Del_p.A170fs|PI4KB_ENST00000368873.1_Frame_Shift_Del_p.A158fs NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 158 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 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) TGCCAATGTAGGCTTGTACTC 0.488 65 110 --- --- --- --- UBQLN4 56893 broad.mit.edu 37 1 156011344 156011344 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:156011344delC ENST00000368309.3 - 10 1677 c.1585delG c.(1585-1587)ctfs p.A529fs UBQLN4_ENST00000368307.1_Frame_Shift_Del_p.G181fs NM_020131.3 NP_064516.2 Q9NRR5 UBQL4_HUMAN ubiquilin 4 529 cytosol|endoplasmic reticulum membrane|nucleus identical protein binding NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2) 16 Hepatocellular(266;0.133)|all_neural(408;0.195) GCGCTGGAAGCCCCTGTTGGA 0.627 19 59 --- --- --- --- COPA 1314 broad.mit.edu 37 1 160295426 160295427 + Frame_Shift_Ins INS - - T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:160295426_160295427insT ENST00000241704.7 - 7 741_742 c.512_513insA c.(511-513)actfs p.T171fs COPA_ENST00000368069.3_Frame_Shift_Ins_p.T171fs NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 171 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CAGGGGACAGGTTTTTTTTCCT 0.406 61 223 --- --- --- --- ARHGAP30 257106 broad.mit.edu 37 1 161026313 161026313 + Frame_Shift_Del DEL A A - rs17854839 TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:161026313delA ENST00000368013.3 - 3 530 c.210delT c.(208-210)ttfs p.F70fs ARHGAP30_ENST00000368015.1_Intron|ARHGAP30_ENST00000368016.3_Frame_Shift_Del_p.F70fs NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 70 Rho-GAP. F -> L (in dbSNP:rs17854839). 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) GCTCTGACTCAAATTCCTGCC 0.592 17 29 --- --- --- --- LOC400800 400800 broad.mit.edu 37 1 199130171 199130172 + RNA INS - - G rs145131094 by1000genomes TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:199130171_199130172insG ENST00000452199.1 + 0 140 gaaggaaggaagaaggaaggaa 0.470 3 4 --- --- --- --- PLEKHA6 22874 broad.mit.edu 37 1 204228411 204228411 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:204228411delC ENST00000272203.3 - 8 1298 c.982delG c.(982-984)tafs p.V328fs PLEKHA6_ENST00000414478.1_Frame_Shift_Del_p.V348fs NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 328 Pro-rich. p.V328fs*172(2) breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) GGCGGGGGTACCCCCCGGCGC 0.622 24 56 --- --- --- --- TMCC2 9911 broad.mit.edu 37 1 205238671 205238671 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:205238671delC ENST00000358024.3 + 3 1730 c.1341delC c.(1339-1341)gafs p.D447fs TMCC2_ENST00000329800.7_Frame_Shift_Del_p.D207fs|TMCC2_ENST00000330675.7_Frame_Shift_Del_p.D222fs|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Frame_Shift_Del_p.D369fs NM_014858.3 NP_055673.2 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 447 integral to membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1) 20 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) ACCTGAAGGACCCCCTGGAAG 0.642 39 96 --- --- --- --- CR2 1380 broad.mit.edu 37 1 207643042 207643043 + Frame_Shift_Ins INS - - T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:207643042_207643043insT ENST00000367057.3 + 6 1009_1010 c.820_821insT c.(820-822)tttfs p.F274fs CR2_ENST00000367058.3_Frame_Shift_Ins_p.F274fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.F274fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.F274fs|CR2_ENST00000485707.1_3'UTR NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 274 Sushi 5. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 TCCCCTAGAAATTTTTTGCCCA 0.416 69 136 --- --- --- --- RP11-400N13.1 0 broad.mit.edu 37 1 222435119 222435119 + RNA DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:222435119delT ENST00000416510.1 - 0 167 CAATAATTTCTTTTTTTTTTA 0.299 4 5 --- --- --- --- AHCTF1 25909 broad.mit.edu 37 1 247007131 247007131 + Frame_Shift_Del DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:247007131delT ENST00000366508.1 - 34 6732 c.6596delA c.(6595-6597)acfs p.N2199fs AHCTF1_ENST00000391829.2_Frame_Shift_Del_p.N2164fs|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Frame_Shift_Del_p.N2173fs Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 2164 Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) ATTGGATGTGTTTTTTTGTCT 0.313 19 61 --- --- --- --- OR2L5 81466 broad.mit.edu 37 1 248185773 248185774 + Frame_Shift_Ins INS - - T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:248185773_248185774insT ENST00000355281.1 + 1 524_525 c.524_525insT c.(523-525)cttfs p.L175fs OR2L13_ENST00000366478.2_Intron NM_001258284.1 NP_001245213.1 olfactory receptor, family 2, subfamily L, member 5 GCCATCAATCATTTTTTCTGTG 0.426 66 209 --- --- --- --- OR2T34 127068 broad.mit.edu 37 1 248738032 248738034 + In_Frame_Del DEL CTG CTG - rs147194614 TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr1:248738032_248738034delCTG ENST00000328782.2 - 1 46_48 c.25_27delCAG c.(25-27)del p.Q9del NM_001001821.1 NP_001001821.1 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, member 34 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 all_cancers(71;0.000108)|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;0.0265) CTGTTTGATTCTGAGAAGTCTGA 0.448 39 95 --- --- --- --- NOL10 79954 broad.mit.edu 37 2 10729704 10729704 + Splice_Site DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:10729704delT ENST00000345985.3 - 17 1556 c.1446_splice c.e17+1 p.K482_splice NOL10_ENST00000542668.1_Splice_Site_p.K482_splice|NOL10_ENST00000381685.5_Splice_Site_p.K532_splice|NOL10_ENST00000538384.1_Splice_Site_p.K506_splice|AC092687.5_ENST00000414538.1_RNA NM_001261394.1 NP_001248323.1 Q9BSC4 NOL10_HUMAN nucleolar protein 10 532 nucleolus Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207) AGTACATTACTTTTTCACGAA 0.299 17 49 --- --- --- --- ATAD2B 54454 broad.mit.edu 37 2 24042679 24042682 + Frame_Shift_Del DEL TGAG TGAG - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:24042679_24042682delTGAG ENST00000238789.5 - 17 2545_2548 c.2202_2205delCTCA c.(2200-2205)cafs p.HS734fs ATAD2B_ENST00000474583.1_5'UTR NM_001242338.1|NM_017552.2 NP_001229267.1|NP_060022.1 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 734 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTGGTGATCCTGAGTGACAATTGG 0.314 21 65 --- --- --- --- FBXO11 80204 broad.mit.edu 37 2 48050443 48050443 + Frame_Shift_Del DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:48050443delT ENST00000403359.3 - 12 1527 c.1455delA c.(1453-1455)aafs p.K485fs FBXO11_ENST00000316377.4_Frame_Shift_Del_p.K401fs|FBXO11_ENST00000402508.1_Frame_Shift_Del_p.K401fs|FBXO11_ENST00000434523.2_5'UTR NM_001190274.1 NP_001177203.1 Q86XK2 FBX11_HUMAN F-box protein 11 485 ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding p.0?(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TAGCATAGGCTTTTACTTCAA 0.368 """Mis, F, D""" DLBCL 30 71 --- --- --- --- EXOC6B 23233 broad.mit.edu 37 2 72725651 72725651 + Frame_Shift_Del DEL A A - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:72725651delA ENST00000272427.6 - 13 1399 c.1269delT c.(1267-1269)ttfs p.F423fs EXOC6B_ENST00000410104.1_Frame_Shift_Del_p.F423fs NM_015189.1 NP_056004.1 Q9Y2D4 EXC6B_HUMAN exocyst complex component 6B 423 protein transport|vesicle docking involved in exocytosis exocyst breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 10 ACAGCATGTCAAAAAGCTGAT 0.338 24 45 --- --- --- --- IKZF2 22807 broad.mit.edu 37 2 214012391 214012392 + Frame_Shift_Ins INS - - AC TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:214012391_214012392insAC ENST00000442445.1 - 3 254_255 c.197_198insGT c.(196-198)gtcfs p.V66fs IKZF2_ENST00000413091.3_Intron|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000457361.1_Intron|IKZF2_ENST00000374319.4_Intron|IKZF2_ENST00000434687.1_Intron|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000342002.2_Intron Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) TTGCTGGAGAGACACACACACA 0.401 43 213 --- --- --- --- SLC11A1 6556 broad.mit.edu 37 2 219252307 219252307 + Frame_Shift_Del DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:219252307delT ENST00000233202.6 + 7 931 c.591delT c.(589-591)gcfs p.A197fs SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 197 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCTGGAAGCTTTTTTTGGAC 0.448 287 607 --- --- --- --- CCDC108 255101 broad.mit.edu 37 2 219900111 219900111 + Frame_Shift_Del DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:219900111delT ENST00000295729.2 - 4 561 c.438delA c.(436-438)aafs p.K146fs CCDC108_ENST00000410037.1_Intron|CCDC108_ENST00000453220.1_Intron|CCDC108_ENST00000441968.1_Intron|CCDC108_ENST00000324264.6_Frame_Shift_Del_p.K146fs|CCDC108_ENST00000341552.5_Intron|CCDC108_ENST00000409865.3_Intron NM_152389.2 NP_689602.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 0 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ATGTTAAAGgttttttttgtt 0.378 17 26 --- --- --- --- CXXC11 285093 broad.mit.edu 37 2 242814374 242814375 + Frame_Shift_Ins INS - - C rs35989328 TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr2:242814374_242814375insC ENST00000343216.3 + 2 695_696 c.667_668insC c.(667-669)cccfs p.P223fs NM_173821.2 NP_776182.2 Q14D33 CB085_HUMAN CXXC finger protein 11 223 integral to membrane TGAGGGCCCTGCCCCCCCTGCG 0.658 14 58 --- --- --- --- MLH1 4292 broad.mit.edu 37 3 37070364 37070365 + Frame_Shift_Ins INS - - CATTAACCTCA rs63751146 TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:37070364_37070365insCATTAACCTCA ENST00000231790.2 + 13 1715_1716 c.1499_1500insCATTAACCTCA c.(1498-1500)aatfs p.N500fs MLH1_ENST00000536378.1_Frame_Shift_Ins_p.N259fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.N259fs|MLH1_ENST00000435176.1_Frame_Shift_Ins_p.N402fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.N259fs|MLH1_ENST00000539477.1_Frame_Shift_Ins_p.N259fs NM_000249.3|NM_001258273.1 NP_000240.1|NP_001245202.1 P40692 MLH1_HUMAN mutL homolog 1 500 Interaction with EXO1. mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding p.0?(1) NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 127 CGGAGAAGGATCATTAACCTCA 0.485 1 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian, CNS""" """colorectal, endometrial, ovarian, CNS""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 33 246 --- --- --- --- LRRFIP2 9209 broad.mit.edu 37 3 37125271 37125271 + Frame_Shift_Del DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:37125271delT ENST00000421307.1 - 20 1556 c.1134delA c.(1132-1134)aafs p.K378fs LRRFIP2_ENST00000336686.4_Frame_Shift_Del_p.K378fs|LRRFIP2_ENST00000440230.1_Frame_Shift_Del_p.K146fs|LRRFIP2_ENST00000396428.2_Frame_Shift_Del_p.K194fs|LRRFIP2_ENST00000421276.2_Frame_Shift_Del_p.K146fs|LRRFIP2_ENST00000354379.4_Frame_Shift_Del_p.K122fs NM_006309.2 NP_006300.1 Q9Y608 LRRF2_HUMAN leucine rich repeat (in FLII) interacting protein 2 378 Wnt receptor signaling pathway LRR domain binding p.0?(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 CTTTCTTGTATTTTTCTTCCA 0.338 69 71 --- --- --- --- SCN11A 11280 broad.mit.edu 37 3 38949441 38949441 + Splice_Site DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:38949441delT ENST00000450244.1 - 10 1670 c.1473_splice c.e10+1 p.K491_splice SCN11A_ENST00000456224.3_Splice_Site_p.K491_splice|SCN11A_ENST00000444237.2_Splice_Site_p.K491_splice|SCN11A_ENST00000302328.3_Splice_Site_p.K491_splice Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 491 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) AAGACTTACCTTTTTTTGGCA 0.388 75 73 --- --- --- --- ZNF619 285267 broad.mit.edu 37 3 40524165 40524165 + Frame_Shift_Del DEL G G - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:40524165delG ENST00000447116.2 + 5 692 c.385delG c.(385-387)ggfs p.G130fs ZNF619_ENST00000456778.1_Frame_Shift_Del_p.G46fs|ZNF619_ENST00000432264.2_Frame_Shift_Del_p.G90fs|ZNF619_ENST00000522736.1_Frame_Shift_Del_p.W56fs|ZNF619_ENST00000521353.1_Frame_Shift_Del_p.G130fs|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000429348.2_Frame_Shift_Del_p.G90fs|ZNF619_ENST00000314686.5_Frame_Shift_Del_p.W56fs NM_001145082.2 NP_001138554.1 E9PCD9 E9PCD9_HUMAN zinc finger protein 619 130 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) GACACTTGCTGGGGGAGAGGC 0.522 60 64 --- --- --- --- TMF1 7110 broad.mit.edu 37 3 69088741 69088741 + Frame_Shift_Del DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:69088741delT ENST00000543976.1 - 6 2043 c.1797delA c.(1795-1797)aafs p.K599fs CTD-2013N24.2_ENST00000596274.1_RNA|TMF1_ENST00000398559.2_Frame_Shift_Del_p.K596fs|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596523.1_RNA NM_007114.2 NP_009045.2 P82094 TMF1_HUMAN TATA element modulatory factor 1 596 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) GCTCTTTAACTTTTTTGTTCA 0.328 64 97 --- --- --- --- AMOTL2 51421 broad.mit.edu 37 3 134086562 134086562 + Frame_Shift_Del DEL G G - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:134086562delG ENST00000514516.1 - 3 1170 c.992delC c.(991-993)ctfs p.P333fs AMOTL2_ENST00000513145.1_Frame_Shift_Del_p.P275fs|AMOTL2_ENST00000249883.5_Frame_Shift_Del_p.P275fs|AMOTL2_ENST00000422605.2_Frame_Shift_Del_p.P275fs NM_001278683.1 NP_001265612.1 Q9Y2J4 AMOL2_HUMAN angiomotin like 2 275 endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 19 ATGTGGGGGAGGGGGGTGCTC 0.647 7 40 --- --- --- --- ESYT3 83850 broad.mit.edu 37 3 138187722 138187725 + Splice_Site DEL GAGT GAGT - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:138187722_138187725delGAGT ENST00000389567.4 + 14 1619_1620 c.1434_splice c.e14+1 p.478_splice NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 478 C2 2. integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 AGGTTTGCCAGAGTGAGTGAGTAT 0.495 100 324 --- --- --- --- FETUB 26998 broad.mit.edu 37 3 186362544 186362544 + Frame_Shift_Del DEL A A - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:186362544delA ENST00000265029.3 + 4 530 c.429delA c.(427-429)tcfs p.S143fs FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|RP11-134F2.2_ENST00000455926.1_RNA|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs|FETUB_ENST00000539949.1_5'UTR NM_014375.2 NP_055190.2 Q9UGM5 FETUB_HUMAN fetuin B 143 extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) CAACAGTTTCAAAAAAAAAGA 0.418 11 231 --- --- --- --- TNK2 10188 broad.mit.edu 37 3 195595228 195595229 + Frame_Shift_Ins INS - - G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:195595228_195595229insG ENST00000333602.6 - 12 2512_2513 c.1895_1896insC c.(1894-1896)cccfs p.P632fs TNK2_ENST00000381916.2_Frame_Shift_Ins_p.P710fs|TNK2_ENST00000392400.1_Frame_Shift_Ins_p.P632fs|TNK2_ENST00000428187.1_Frame_Shift_Ins_p.P664fs NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 632 Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CATAGGCGGGCGGGGGGGGCAG 0.728 7 92 --- --- --- --- PCYT1A 5130 broad.mit.edu 37 3 195969503 195969503 + Frame_Shift_Del DEL A A - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr3:195969503delA ENST00000292823.2 - 7 667 c.495delT c.(493-495)ttfs p.F165fs PCYT1A_ENST00000419333.1_Frame_Shift_Del_p.F165fs|PCYT1A_ENST00000431016.1_Frame_Shift_Del_p.F165fs NM_005017.2 NP_005008.2 P49585 PCY1A_HUMAN phosphate cytidylyltransferase 1, choline, alpha 165 Catalytic (Potential). cytosol|soluble fraction choline-phosphate cytidylyltransferase activity cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1) 18 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122) CATGGGCTACAAAATCAATCT 0.423 63 206 --- --- --- --- IGFBP7 3490 broad.mit.edu 37 4 57898593 57898593 + Frame_Shift_Del DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr4:57898593delT ENST00000537922.1 - 4 861 c.828delA c.(826-828)aafs p.K276fs IGFBP7_ENST00000295666.4_Splice_Site_p.K276_splice|IGFBP7_ENST00000512512.1_5'UTR NM_001253835.1 NP_001240764.1 Q16270 IBP7_HUMAN insulin-like growth factor binding protein 7 276 PVKKGEGAEL -> ASEKR (in Ref. 1; AAA16187). cell adhesion|negative regulation of cell proliferation|regulation of cell growth extracellular space insulin-like growth factor binding central_nervous_system(1)|endometrium(1)|lung(3) 5 Glioma(25;0.08)|all_neural(26;0.181) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATTGTGTACCTTTTTTCACTG 0.363 55 45 --- --- --- --- ZFP42 132625 broad.mit.edu 37 4 188924487 188924487 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr4:188924487delC ENST00000326866.4 + 4 934 c.526delC c.(526-528)ccfs p.P177fs ZFP42_ENST00000509524.1_Frame_Shift_Del_p.P177fs NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 177 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) TAGAAAGAAGCCCCCCATAAA 0.468 25 230 --- --- --- --- CDH10 1008 broad.mit.edu 37 5 24488218 24488219 + Frame_Shift_Ins INS - - T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:24488218_24488219insT ENST00000264463.4 - 12 2427_2428 c.1920_1921insA c.(1918-1923)aaagccfs p.A641fs CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 641 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) ATCAGAGGCTCTTTTTTTCGCT 0.406 HNSCC(23;0.051) 44 138 --- --- --- --- AP3B1 8546 broad.mit.edu 37 5 77334907 77334907 + Frame_Shift_Del DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:77334907delT ENST00000255194.6 - 23 2944 c.2769delA c.(2767-2769)aafs p.K923fs AP3B1_ENST00000523204.1_5'UTR|AP3B1_ENST00000519295.1_Frame_Shift_Del_p.K874fs NM_001271769.1 NP_001258698.1 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 subunit 923 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity p.K923fs*4(1) breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1) 39 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) CTATAGGAAGTTTTTTTTCCC 0.289 Hermansky-Pudlak syndrome 52 106 --- --- --- --- APC 324 broad.mit.edu 37 5 112176344 112176345 + Frame_Shift_Ins INS - - A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:112176344_112176345insA ENST00000457016.1 + 16 5433_5434 c.5053_5054insA c.(5053-5055)aaafs p.K1685fs APC_ENST00000508376.2_Frame_Shift_Ins_p.K1685fs|APC_ENST00000257430.4_Frame_Shift_Ins_p.K1685fs|CTC-554D6.1_ENST00000520401.1_Intron P25054 APC_HUMAN adenomatous polyposis coli 1685 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.K1192fs*3(1)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) AGGTGAATTTGAAAAACGAGAT 0.436 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 27 60 --- --- --- --- FTMT 94033 broad.mit.edu 37 5 121187789 121187789 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:121187789delC ENST00000321339.1 + 1 140 c.131delC c.(130-132)gcfs p.A44fs NM_177478.1 NP_803431.1 Q8N4E7 FTMT_HUMAN ferritin mitochondrial 44 cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) AGGCAGATCGCCCCCCGCCGC 0.776 5 6 --- --- --- --- FNIP1 96459 broad.mit.edu 37 5 131066705 131066706 + Frame_Shift_Del DEL TT TT - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:131066705_131066706delTT ENST00000307968.7 - 3 244_245 c.245_246delAA c.(244-246)afs p.K82fs FNIP1_ENST00000511848.1_Frame_Shift_Del_p.K82fs|FNIP1_ENST00000510461.1_Frame_Shift_Del_p.K82fs|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Intron NM_001008738.2 NP_001008738.2 folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) TCCCAAAGACTTTAACTTGAGC 0.347 67 133 --- --- --- --- SLC22A4 6583 broad.mit.edu 37 5 131663087 131663087 + Frame_Shift_Del DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:131663087delT ENST00000200652.3 + 5 1116 c.942delT c.(940-942)gafs p.D314fs AC034220.3_ENST00000417795.1_RNA NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 314 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) TGATATTTGATTCTGTGGAGG 0.378 39 109 --- --- --- --- FSTL4 23105 broad.mit.edu 37 5 132534947 132534947 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:132534947delC ENST00000265342.7 - 16 2618 c.2369delG c.(2368-2370)gtfs p.G790fs CTB-49A3.2_ENST00000509051.1_RNA NM_015082.1 NP_055897.1 Q6MZW2 FSTL4_HUMAN follistatin-like 4 790 extracellular region calcium ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCTGTGGGTACCCCCCCAGGG 0.597 11 43 --- --- --- --- ANKHD1 54882 broad.mit.edu 37 5 139889312 139889312 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr5:139889312delC ENST00000297183.6 + 21 3980 c.3856delC c.(3856-3858)ccfs p.P1287fs ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.P1287fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.P1287fs NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTTAATGCTCCCCCTGTGCC 0.438 17 120 --- --- --- --- MBOAT1 154141 broad.mit.edu 37 6 20151474 20151475 + Frame_Shift_Ins INS - - A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:20151474_20151475insA ENST00000324607.7 - 3 428_429 c.264_265insT c.(262-267)tttgctfs p.A89fs MBOAT1_ENST00000536798.1_Frame_Shift_Ins_p.A89fs|MBOAT1_ENST00000541730.1_5'UTR NM_001080480.1 NP_001073949.1 Q6ZNC8 MBOA1_HUMAN membrane bound O-acyltransferase domain containing 1 89 phospholipid biosynthetic process integral to membrane acyltransferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5) 20 all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109) OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454) AACACCAGCACAAAAAGATGCA 0.371 67 195 --- --- --- --- CDKAL1 54901 broad.mit.edu 37 6 21231246 21231246 + Frame_Shift_Del DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:21231246delT ENST00000274695.4 + 16 1883 c.1716delT c.(1714-1716)gcfs p.A572fs CDKAL1_ENST00000378610.1_Frame_Shift_Del_p.A572fs|CDKAL1_ENST00000476517.1_3'UTR|CDKAL1_ENST00000378624.4_Frame_Shift_Del_p.A481fs NM_017774.3 NP_060244.2 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 1-like 1 572 RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1) 29 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) TTCTTTTTGCTTTTTTTGTCA 0.413 25 180 --- --- --- --- PPP1R10 5514 broad.mit.edu 37 6 30570264 30570266 + In_Frame_Del DEL GGA GGA - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:30570264_30570266delGGA ENST00000376511.2 - 19 2712_2714 c.2160_2162delTCC c.(2158-2163)cca>cc p.PP720del NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 720 Gly-rich. protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 GCCTCGGAATggaggaggaggag 0.670 9 55 --- --- --- --- KLHL31 401265 broad.mit.edu 37 6 53519514 53519514 + Frame_Shift_Del DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:53519514delT ENST00000370905.3 - 2 697 c.557delA c.(556-558)atfs p.N186fs KLHL31_ENST00000407079.1_Frame_Shift_Del_p.N186fs NM_001003760.4 NP_001003760.2 Q9H511 KLH31_HUMAN kelch-like family member 31 186 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3) 20 Lung NSC(77;0.0158) TGCTTTTGCATTTTTTAGGGA 0.343 69 123 --- --- --- --- PHF3 23469 broad.mit.edu 37 6 64395266 64395267 + Frame_Shift_Ins INS - - A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:64395266_64395267insA ENST00000262043.3 + 4 1983_1984 c.1643_1644insA c.(1642-1644)aaafs p.K548fs PHF3_ENST00000509330.1_Frame_Shift_Ins_p.K548fs|PHF3_ENST00000393387.1_Frame_Shift_Ins_p.K548fs Q92576 PHF3_HUMAN PHD finger protein 3 548 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) GTCAAAGTCAGAAAAAAACAAA 0.337 32 76 --- --- --- --- MCHR2 84539 broad.mit.edu 37 6 100382358 100382358 + Frame_Shift_Del DEL A A - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:100382358delA ENST00000281806.2 - 5 937 c.623delT c.(622-624)tcfs p.F208fs MCHR2_ENST00000369212.1_Frame_Shift_Del_p.F208fs|MCHR2_ENST00000445970.1_Frame_Shift_Del_p.F208fs NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 208 integral to membrane|plasma membrane G-protein coupled receptor activity p.F208fs*5(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) GGGTAGAGGGAAAAAAAAAGT 0.343 68 152 --- --- --- --- ARHGAP18 93663 broad.mit.edu 37 6 129937433 129937434 + Frame_Shift_Ins INS - - A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:129937433_129937434insA ENST00000368149.2 - 7 1055_1056 c.967_968insT c.(967-969)cgtfs p.R323fs NM_033515.2 NP_277050.2 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 323 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) CAATGGAACGCAAAAAAGACCA 0.337 18 78 --- --- --- --- SERAC1 84947 broad.mit.edu 37 6 158532468 158532468 + Frame_Shift_Del DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:158532468delT ENST00000367104.3 - 17 2026 c.1895delA c.(1894-1896)agfs p.K632fs SERAC1_ENST00000367102.2_3'UTR NM_032861.3 NP_116250.3 Q96JX3 SRAC1_HUMAN serine active site containing 1 632 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 15 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) AAAAGCATCCTTTTTCTTTGG 0.338 45 81 --- --- --- --- TULP4 56995 broad.mit.edu 37 6 158923024 158923024 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr6:158923024delC ENST00000367097.3 + 13 3686 c.2329delC c.(2329-2331)ccfs p.P779fs TULP4_ENST00000367094.2_Intron NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 779 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) GTCCCTGCCTCCCCCGCCGCA 0.632 21 147 --- --- --- --- THSD7A 221981 broad.mit.edu 37 7 11676288 11676291 + Frame_Shift_Del DEL TCTT TCTT - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:11676288_11676291delTCTT ENST00000423059.3 - 2 739_742 c.488_491delAAGA c.(487-492)acfs p.KD165fs THSD7A_ENST00000480061.1_5'UTR NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 165 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) AATGTCTTTGTCTTTCTGGATGCA 0.490 HNSCC(18;0.044) 31 77 --- --- --- --- CCT6P1 643253 broad.mit.edu 37 7 65222951 65222951 + RNA DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:65222951delT ENST00000442266.1 + 0 561 TTTCTGTAACTTTTTTTTTTT 0.323 17 18 --- --- --- --- GS1-124K5.2 0 broad.mit.edu 37 7 65888988 65888988 + RNA DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:65888988delT ENST00000442578.1 - 0 826 tttttttttcttttttttttt 0.488 4 3 --- --- --- --- GTF2IRD1P1 729156 broad.mit.edu 37 7 66304731 66304731 + RNA DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:66304731delT ENST00000457166.1 - 0 189 NR_003934.1 TTTCTTTCCCttttttttttt 0.512 4 2 --- --- --- --- CLDN4 1364 broad.mit.edu 37 7 73246063 73246063 + Frame_Shift_Del DEL G G - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:73246063delG ENST00000435050.1 + 2 3212 c.532delG c.(532-534)ggfs p.G179fs CLDN4_ENST00000431918.1_Frame_Shift_Del_p.G179fs|CLDN4_ENST00000340958.2_Frame_Shift_Del_p.G179fs O14493 CLD4_HUMAN claudin 4 179 calcium-independent cell-cell adhesion integral to plasma membrane|tight junction identical protein binding|structural molecule activity|transmembrane receptor activity kidney(2)|lung(4)|urinary_tract(1) 7 Lung NSC(55;0.159) GCTCCTTGGCGGGGGGCTGCT 0.642 17 62 --- --- --- --- AC006988.1 0 broad.mit.edu 37 7 88269891 88269892 + RNA DEL TT TT - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:88269891_88269892delTT ENST00000390184.1 + 0 57_58 GAAGGAGCACTTTTTTTTTTTT 0.317 3 4 --- --- --- --- AZGP1P1 646282 broad.mit.edu 37 7 99581178 99581179 + RNA INS - - C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:99581178_99581179insC ENST00000425474.1 + 0 499_500 NR_036679.1 TCCGCATCCCACCCCCCCCACA 0.579 2 4 --- --- --- --- CNPY4 245812 broad.mit.edu 37 7 99717401 99717402 + Frame_Shift_Ins INS - - T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:99717401_99717402insT ENST00000262932.3 + 1 166_167 c.34_35insT c.(34-36)tttfs p.F12fs RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000437822.2_5'UTR NM_152755.1 NP_689968.1 Q8N129 CNPY4_HUMAN canopy FGF signaling regulator 4 12 extracellular region breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ATTGCTTTTCCTTTTTTTGGCC 0.525 25 84 --- --- --- --- SRRT 51593 broad.mit.edu 37 7 100482088 100482090 + In_Frame_Del DEL AAG AAG - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:100482088_100482090delAAG ENST00000388793.4 + 7 1077_1079 c.857_859delAAG c.(856-861)aaa>a p.KE286del SRRT_ENST00000457580.2_In_Frame_Del_p.KE286del|SRRT_ENST00000432932.1_In_Frame_Del_p.KE286del|SRRT_ENST00000347433.4_In_Frame_Del_p.KE286del NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 286 Glu-rich. cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 CCCAGCAAGAAAGAAGAAGGACG 0.596 15 26 --- --- --- --- OR2A7 401427 broad.mit.edu 37 7 143956190 143956190 + Frame_Shift_Del DEL A A - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr7:143956190delA ENST00000493325.1 - 1 625 c.532delT c.(532-534)gtfs p.C178fs RP4-798C17.6_ENST00000476560.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA NM_001005328.1 NP_001005328.1 Q96R45 OR2A7_HUMAN olfactory receptor, family 2, subfamily A, member 7 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(1)|lung(3)|ovary(1) 6 Melanoma(164;0.14) AAGATTTCACAAAAAAAGTGA 0.458 7 50 --- --- --- --- LONRF1 91694 broad.mit.edu 37 8 12592895 12592900 + In_Frame_Del DEL GGCTCA GGCTCA - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:12592895_12592900delGGCTCA ENST00000398246.3 - 7 1530_1535 c.1461_1466delTGAGCC c.(1459-1467)tta>tt p.FEP487del LONRF1_ENST00000533751.1_In_Frame_Del_p.FEP130del NM_152271.3 NP_689484.3 Q17RB8 LONF1_HUMAN LON peptidase N-terminal domain and ring finger 1 487 proteolysis ATP-dependent peptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 READ - Rectum adenocarcinoma(644;0.236) GGTTGTTACTGGCTCAAAAAACAACC 0.359 13 19 --- --- --- --- SLC7A13 157724 broad.mit.edu 37 8 87242135 87242135 + Frame_Shift_Del DEL A A - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:87242135delA ENST00000297524.3 - 1 475 c.372delT c.(370-372)ttfs p.F124fs SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Frame_Shift_Del_p.F124fs NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 124 integral to membrane amino acid transmembrane transporter activity p.S126fs*20(1) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 AGCAGCTGGGAAAAAAAGGCT 0.488 7 101 --- --- --- --- DCSTAMP 81501 broad.mit.edu 37 8 105367351 105367351 + Frame_Shift_Del DEL A A - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:105367351delA ENST00000297581.2 + 3 1325 c.1276delA c.(1276-1278)aafs p.K427fs DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 427 osteoclast differentiation cell surface|integral to membrane|plasma membrane AAAGCTGCTTAAAAAAAGATC 0.458 27 130 --- --- --- --- EMC2 9694 broad.mit.edu 37 8 109482097 109482097 + Frame_Shift_Del DEL A A - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:109482097delA ENST00000220853.3 + 6 441 c.406delA c.(406-408)aafs p.K136fs EMC2_ENST00000520294.1_3'UTR NM_014673.3 NP_055488.1 ER membrane protein complex subunit 2 AGCCCAGGGGAAAAATGTGGA 0.388 9 86 --- --- --- --- FER1L6-AS2 157376 broad.mit.edu 37 8 125164198 125164198 + RNA DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:125164198delT ENST00000520031.1 - 0 95 NR_103547.1 CTTAAAGGGCTTTTTTGGCAC 0.547 9 15 --- --- --- --- MROH1 727957 broad.mit.edu 37 8 145246743 145246745 + In_Frame_Del DEL CTT CTT - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr8:145246743_145246745delCTT ENST00000528919.1 + 8 961_963 c.840_842delCTT c.(838-843)acc>ac p.TF280del MROH1_ENST00000398656.4_In_Frame_Del_p.TF280del|MROH1_ENST00000534366.1_In_Frame_Del_p.TF280del|MROH1_ENST00000423230.2_In_Frame_Del_p.TF280del|MROH1_ENST00000326134.5_In_Frame_Del_p.TF280del NM_032450.2 NP_115826.2 maestro heat-like repeat family member 1 ACGCAGAGACCTTCTACTTGTCC 0.621 19 42 --- --- --- --- SPATA31D1 389763 broad.mit.edu 37 9 84606643 84606643 + Frame_Shift_Del DEL A A - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr9:84606643delA ENST00000344803.2 + 4 1305 c.1258delA c.(1258-1260)aafs p.K421fs NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 GAGACAAGTCAAAAAAAGGGG 0.448 27 35 --- --- --- --- NAA35 60560 broad.mit.edu 37 9 88631578 88631578 + Frame_Shift_Del DEL A A - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr9:88631578delA ENST00000361671.5 + 18 1826 c.1693delA c.(1693-1695)aafs p.K568fs NM_024635.3 NP_078911.3 Q5VZE5 NAA35_HUMAN N(alpha)-acetyltransferase 35, NatC auxiliary subunit 568 smooth muscle cell proliferation cytoplasm|nucleus|plasma membrane central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 25 AAAAACAAAGAAAAAAAAGAA 0.378 26 40 --- --- --- --- SPATA31C1 441452 broad.mit.edu 37 9 90534182 90534182 + RNA DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr9:90534182delT ENST00000602681.1 + 0 928 TCATCTTGTCTCCCAGCGTCA 0.612 7 44 --- --- --- --- FAM120A 23196 broad.mit.edu 37 9 96278286 96278286 + Frame_Shift_Del DEL G G - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr9:96278286delG ENST00000277165.6 + 7 1347 c.1153delG c.(1153-1155)ggfs p.G386fs FAM120A_ENST00000333936.5_Frame_Shift_Del_p.G386fs|FAM120A_ENST00000375389.3_Frame_Shift_Del_p.G386fs|FAM120A_ENST00000340893.4_Frame_Shift_Del_p.G386fs NM_014612.3 NP_055427.2 Q9NZB2 F120A_HUMAN family with sequence similarity 120A 386 Interaction with YES1, SRC and FYN. cytoplasm|plasma membrane RNA binding endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GCCCAGCCCAGGGGGCGCCCC 0.647 7 5 --- --- --- --- PKN3 29941 broad.mit.edu 37 9 131482247 131482247 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr9:131482247delC ENST00000291906.4 + 20 2720 c.2327delC c.(2326-2328)gcfs p.A776fs PKN3_ENST00000485301.1_3'UTR NM_013355.3 NP_037487.2 Q6P5Z2 PKN3_HUMAN protein kinase N3 776 Protein kinase. signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 AACATGGACGCCCCCTACCCC 0.627 22 92 --- --- --- --- NOXA1 10811 broad.mit.edu 37 9 140327515 140327516 + Frame_Shift_Del DEL CT CT - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr9:140327515_140327516delCT ENST00000341349.2 + 9 1019_1020 c.839_840delCT c.(838-840)cfs p.P280fs NOXA1_ENST00000392815.2_Frame_Shift_Del_p.P224fs NM_001256067.1|NM_006647.1 NP_001242996.1|NP_006638.1 Q86UR1 NOXA1_HUMAN NADPH oxidase activator 1 280 Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate). regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process cytoplasm|NADPH oxidase complex Rac GTPase binding|superoxide-generating NADPH oxidase activator activity cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1) 9 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982) AAACAGGCTCCTCTCTCCCCAG 0.683 18 18 --- --- --- --- FBXO18 84893 broad.mit.edu 37 10 5950982 5950982 + Frame_Shift_Del DEL A A - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:5950982delA ENST00000379999.5 + 5 1105 c.1001delA c.(1000-1002)gafs p.E334fs FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000362091.4_Frame_Shift_Del_p.E283fs|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000379994.1_Frame_Shift_Del_p.E20fs NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 283 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 TGTGGCATAGAAAAGGAGTCA 0.468 8 221 --- --- --- --- FRMD4A 55691 broad.mit.edu 37 10 13696451 13696452 + Frame_Shift_Ins INS - - G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:13696451_13696452insG ENST00000357447.2 - 23 3382_3383 c.3014_3015insC c.(3013-3015)cagfs p.Q1005fs FRMD4A_ENST00000358621.4_Frame_Shift_Ins_p.Q990fs|FRMD4A_ENST00000378503.1_Frame_Shift_Ins_p.Q1005fs NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 1005 Ser-rich. cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 GGGGGCTGCTTGGGGGGGTGGC 0.535 18 147 --- --- --- --- NRG3 10718 broad.mit.edu 37 10 83635237 83635238 + Frame_Shift_Ins INS - - C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:83635237_83635238insC ENST00000404547.1 + 1 141_142 c.141_142insC c.(139-144)gaccccfs p.DP47fs NRG3_ENST00000372141.2_Frame_Shift_Ins_p.DP47fs P56975 NRG3_HUMAN neuregulin 3 47 regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) GGGCGGCCGAGCCCCCCCGGGA 0.757 5 9 --- --- --- --- HHEX 3087 broad.mit.edu 37 10 94454326 94454328 + In_Frame_Del DEL AAG AAG - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:94454326_94454328delAAG ENST00000282728.5 + 4 2413_2415 c.614_616delAAG c.(613-618)aaa>a p.KE205del HHEX_ENST00000492654.2_In_Frame_Del_p.KE33del|HHEX_ENST00000472590.2_In_Frame_Del_p.KE33del NM_002729.4 NP_002720.1 Q03014 HHEX_HUMAN hematopoietically expressed homeobox 205 anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway cytoplasm|nucleus|protein-DNA complex DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding kidney(2)|large_intestine(2)|lung(5)|ovary(1) 10 AGCAATAAAAAAGAAGAACTGGA 0.389 54 108 --- --- --- --- DHX32 55760 broad.mit.edu 37 10 127548334 127548336 + In_Frame_Del DEL ATA ATA - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr10:127548334_127548336delATA ENST00000284690.3 - 3 1175_1177 c.685_687delTAT c.(685-687)del p.Y229del DHX32_ENST00000284688.6_In_Frame_Del_p.Y229del NM_018180.2 NP_060650.2 Q7L7V1 DHX32_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 32 229 Helicase ATP-binding. mitochondrion|nucleus ATP binding|helicase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1) 29 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) GCACGTTTCCATAATAAGAATTG 0.384 47 337 --- --- --- --- KCNQ1 3784 broad.mit.edu 37 11 2609949 2609949 + Frame_Shift_Del DEL A A - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:2609949delA ENST00000155840.5 + 10 1366 c.1258delA c.(1258-1260)aafs p.K422fs KCNQ1_ENST00000335475.5_Frame_Shift_Del_p.K295fs NM_000218.2 NP_000209.2 P51787 KCNQ1_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 1 422 blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2) 21 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) TTAGGTAAAGAAAAAAAAGTT 0.562 17 56 --- --- --- --- DCHS1 8642 broad.mit.edu 37 11 6662142 6662142 + Frame_Shift_Del DEL G G - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:6662142delG ENST00000299441.3 - 2 1114 c.703delC c.(703-705)ggfs p.R236fs NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 236 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGGCCCTCCGGGGGGGTGAA 0.587 66 195 --- --- --- --- AKIP1 56672 broad.mit.edu 37 11 8936454 8936454 + Frame_Shift_Del DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:8936454delT ENST00000529876.1 + 2 565 c.304delT c.(304-306)gcfs p.C102fs AKIP1_ENST00000299576.5_Frame_Shift_Del_p.C102fs|AKIP1_ENST00000534147.1_Frame_Shift_Del_p.C129fs|AKIP1_ENST00000396648.2_Frame_Shift_Del_p.C102fs|AKIP1_ENST00000309377.4_Frame_Shift_Del_p.C129fs|AKIP1_ENST00000525005.1_Frame_Shift_Del_p.C129fs|AKIP1_ENST00000534506.1_Frame_Shift_Del_p.C102fs|AKIP1_ENST00000309357.4_Frame_Shift_Del_p.C129fs Q9NQ31 AKIP1_HUMAN A kinase (PRKA) interacting protein 1 129 nucleus protein binding kidney(1)|large_intestine(2)|lung(2) 5 GCTGCACATGTGCTTGGACAT 0.468 OREG0020740 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 81 --- --- --- --- FBXO3 26273 broad.mit.edu 37 11 33792303 33792304 + Frame_Shift_Ins INS - - T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:33792303_33792304insT ENST00000530401.1 - 2 182_183 c.162_163insA c.(160-165)aaactgfs p.L55fs FBXO3_ENST00000265651.3_Frame_Shift_Ins_p.L60fs|FBXO3_ENST00000448981.2_Frame_Shift_Ins_p.L60fs|FBXO3_ENST00000533103.1_5'UTR|FBXO3_ENST00000526785.1_5'UTR|FBXO3_ENST00000534136.1_Frame_Shift_Ins_p.L60fs Q9UK99 FBX3_HUMAN F-box protein 3 60 F-box. proteolysis nucleus ubiquitin-protein ligase activity NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1) 13 Lung NSC(402;0.0804) BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008) ATCAGCCAGTATTTTTTGCAAT 0.426 38 818 --- --- --- --- LOC283194 283194 broad.mit.edu 37 11 58763346 58763347 + RNA DEL GA GA - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:58763346_58763347delGA ENST00000533954.1 - 0 507 RP11-142C4.6_ENST00000532098.1_RNA NR_033853.1 TCTGCCGCATGAGCATAAAATG 0.406 27 42 --- --- --- --- FADS3 3995 broad.mit.edu 37 11 61644278 61644278 + Frame_Shift_Del DEL G G - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:61644278delG ENST00000540820.1 - 8 1115 c.1043delC c.(1042-1044)cafs p.P349fs FADS3_ENST00000527697.1_Intron|FADS3_ENST00000525588.1_Intron|FADS3_ENST00000278829.2_Intron Q9Y5Q0 FADS3_HUMAN fatty acid desaturase 3 0 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 aagctcTGGTGGGGGGCTGCA 0.612 2 4 --- --- --- --- HNRNPUL2 221092 broad.mit.edu 37 11 62484649 62484650 + Frame_Shift_Del DEL AA AA - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:62484649_62484650delAA ENST00000301785.5 - 11 1984_1985 c.1792_1793delTT c.(1792-1794)gfs p.L598fs RP11-831H9.16_ENST00000403734.2_Frame_Shift_Del_p.L598fs NM_001079559.2 NP_001073027.1 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 2 598 cell killing nucleus ATP binding|nucleic acid binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 TTTTTCAGGCAAAGAGAAGTTG 0.441 31 48 --- --- --- --- SLC3A2 6520 broad.mit.edu 37 11 62649529 62649529 + Frame_Shift_Del DEL A A - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:62649529delA ENST00000377892.1 + 6 1209 c.985delA c.(985-987)aafs p.K331fs SLC3A2_ENST00000377889.2_Frame_Shift_Del_p.K238fs|SLC3A2_ENST00000377890.2_Frame_Shift_Del_p.K300fs|SLC3A2_ENST00000377891.2_Frame_Shift_Del_p.K301fs|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000338663.7_Frame_Shift_Del_p.K199fs|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000535296.1_Frame_Shift_Del_p.K269fs P08195 4F2_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 2 300 blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding p.K331fs*31(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2) 22 GCAATCGGCTAAAAAAAAGAG 0.463 53 137 --- --- --- --- TRIM49 57093 broad.mit.edu 37 11 89537226 89537226 + Splice_Site DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:89537226delC ENST00000329758.1 - 3 740 c.e3+1 TRIM49_ENST00000532501.2_Splice_Site NM_020358.2 NP_065091.1 P0CI25 TRI49_HUMAN tripartite motif containing 49 intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1) 27 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) CCATCACTTACCCGGTGTTCC 0.493 22 46 --- --- --- --- KDM4D 55693 broad.mit.edu 37 11 94730807 94730807 + Frame_Shift_Del DEL A A - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr11:94730807delA ENST00000335080.5 + 3 1103 c.271delA c.(271-273)aafs p.K94fs KDM4D_ENST00000536741.1_Frame_Shift_Del_p.K94fs NM_018039.2 NP_060509.2 Q6B0I6 KDM4D_HUMAN lysine (K)-specific demethylase 4D 94 Poly-Lys. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 TCAATACCATAAAAAAAAGAA 0.453 63 125 --- --- --- --- SLC6A12 6539 broad.mit.edu 37 12 309834 309834 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:309834delC ENST00000428720.1 - 7 1437 c.694delG c.(694-696)tcfs p.V232fs SLC6A12_ENST00000424061.2_Frame_Shift_Del_p.V232fs|SLC6A12_ENST00000536824.1_Frame_Shift_Del_p.V232fs|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000397296.2_Frame_Shift_Del_p.V232fs|SLC6A12_ENST00000359674.4_Frame_Shift_Del_p.V232fs NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 232 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) GTGGACTTGACCCCCTTCCAG 0.622 92 190 --- --- --- --- KCNA5 3741 broad.mit.edu 37 12 5155012 5155012 + Frame_Shift_Del DEL G G - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:5155012delG ENST00000252321.3 + 1 1928 c.1699delG c.(1699-1701)ggfs p.G568fs NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 568 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 CTGCAAGGCTGGGGGGACCCT 0.632 9 34 --- --- --- --- PRB4 5545 broad.mit.edu 37 12 11461543 11461543 + Frame_Shift_Del DEL G G - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:11461543delG ENST00000279575.1 - 3 407 c.374delC c.(373-375)cafs p.P125fs PRB4_ENST00000535904.1_Frame_Shift_Del_p.P125fs|PRB4_ENST00000445719.2_Intron NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 188 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. Missing (in allele M and allele S). extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 GCCTCCTTGTGGGGGTGGTCT 0.607 HNSCC(22;0.051) 12 1169 --- --- --- --- GUCY2C 2984 broad.mit.edu 37 12 14781652 14781652 + Frame_Shift_Del DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:14781652delT ENST00000261170.3 - 20 2313 c.2177delA c.(2176-2178)acfs p.N726fs NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 726 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 CTCCCAACAGTTTTTTACAAG 0.343 45 145 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56566385 56566385 + Frame_Shift_Del DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:56566385delT ENST00000394023.3 - 19 1952 c.1847delA c.(1846-1848)agfs p.K616fs SMARCC2_ENST00000347471.4_Frame_Shift_Del_p.K616fs|SMARCC2_ENST00000267064.4_Frame_Shift_Del_p.K585fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Frame_Shift_Del_p.K616fs NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 585 SANT. 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) GGGAACATTCTTTTTTGTGTA 0.498 59 128 --- --- --- --- DTX3 196403 broad.mit.edu 37 12 58000848 58000848 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:58000848delC ENST00000548198.1 + 3 1706 c.202delC c.(202-204)ccfs p.P69fs DTX3_ENST00000548804.1_Frame_Shift_Del_p.P69fs|DTX3_ENST00000337737.3_Frame_Shift_Del_p.P69fs|DTX3_ENST00000551632.1_Frame_Shift_Del_p.P72fs Q8N9I9 DTX3_HUMAN deltex homolog 3 (Drosophila) 69 Notch signaling pathway cytoplasm zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1) 12 Melanoma(17;0.122) ACAGGGTCCTCCCCCGGCCCC 0.602 67 208 --- --- --- --- DTX3 196403 broad.mit.edu 37 12 58001073 58001073 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:58001073delC ENST00000548198.1 + 3 1931 c.427delC c.(427-429)ccfs p.P144fs DTX3_ENST00000548804.1_Frame_Shift_Del_p.P144fs|DTX3_ENST00000337737.3_Frame_Shift_Del_p.P144fs|DTX3_ENST00000551632.1_Frame_Shift_Del_p.P147fs Q8N9I9 DTX3_HUMAN deltex homolog 3 (Drosophila) 144 Pro-rich. Notch signaling pathway cytoplasm zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1) 12 Melanoma(17;0.122) ccctcctcctccccccctgcc 0.697 4 8 --- --- --- --- TMTC2 160335 broad.mit.edu 37 12 83444732 83444732 + Frame_Shift_Del DEL A A - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:83444732delA ENST00000549919.1 + 11 3989 c.2184delA c.(2182-2184)gcfs p.A728fs TMTC2_ENST00000321196.3_Frame_Shift_Del_p.A734fs Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 734 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 CTGAGATGGCAAAAAAAGCAG 0.433 21 81 --- --- --- --- KSR2 283455 broad.mit.edu 37 12 118199247 118199248 + Frame_Shift_Ins INS - - G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:118199247_118199248insG ENST00000425217.1 - 4 521_522 c.467_468insC c.(466-468)cgafs p.R156fs KSR2_ENST00000339824.5_Frame_Shift_Ins_p.R185fs NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 185 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGGTGGGCTCCGGGGGGCACAC 0.634 50 98 --- --- --- --- GCN1L1 10985 broad.mit.edu 37 12 120591026 120591026 + Frame_Shift_Del DEL G G - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:120591026delG ENST00000300648.6 - 33 4065 c.4053delC c.(4051-4053)ccfs p.P1351fs NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1351 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCTGCTGGGAGGGGGTGGAGA 0.602 18 91 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132537936 132537936 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr12:132537936delC ENST00000333577.4 + 44 7739 c.7630delC c.(7630-7632)ccfs p.P2546fs EP400_ENST00000389562.2_Frame_Shift_Del_p.P2509fs|EP400_ENST00000332482.4_Frame_Shift_Del_p.P2473fs|EP400_ENST00000330386.6_Frame_Shift_Del_p.P2429fs|EP400_ENST00000389561.2_Frame_Shift_Del_p.P2510fs Q96L91 EP400_HUMAN E1A binding protein p400 2546 Interaction with ZNF42 (By similarity).|Poly-Pro. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GGCCCAgccacccccgcccca 0.736 11 17 --- --- --- --- ZMYM5 9205 broad.mit.edu 37 13 20398645 20398645 + Frame_Shift_Del DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr13:20398645delT ENST00000337963.4 - 8 2246 c.1982delA c.(1981-1983)atfs p.N661fs NM_001142684.1 NP_001136156.1 Q9UJ78 ZMYM5_HUMAN zinc finger, MYM-type 5 661 nucleus zinc ion binding kidney(1)|large_intestine(5)|lung(9) 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) cacaccatcatttttctcatt 0.323 21 41 --- --- --- --- IFT88 8100 broad.mit.edu 37 13 21205180 21205180 + Frame_Shift_Del DEL A A - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr13:21205180delA ENST00000382778.4 + 17 2470 c.1352delA c.(1351-1353)gafs p.E451fs IFT88_ENST00000537103.1_Frame_Shift_Del_p.E423fs|IFT88_ENST00000319980.6_Frame_Shift_Del_p.E451fs|IFT88_ENST00000351808.5_Frame_Shift_Del_p.E442fs|IFT88_ENST00000461115.1_3'UTR Q13099 IFT88_HUMAN intraflagellar transport 88 homolog (Chlamydomonas) 451 cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 27 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) AAAGTGTTGGAAAAAAAGGAC 0.363 87 154 --- --- --- --- RFC3 5983 broad.mit.edu 37 13 34398063 34398063 + Frame_Shift_Del DEL A A - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr13:34398063delA ENST00000380071.3 + 3 365 c.235delA c.(235-237)aafs p.K81fs RFC3_ENST00000434425.1_Frame_Shift_Del_p.K81fs NM_002915.3 NP_002906.1 P40938 RFC3_HUMAN replication factor C (activator 1) 3, 38kDa 81 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding lung(2)|skin(1) 3 Hepatocellular(188;0.0191)|Lung SC(185;0.0548) all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123) GACTCCATCTAAAAAAAAAAT 0.269 17 50 --- --- --- --- MYCBP2 23077 broad.mit.edu 37 13 77759324 77759326 + In_Frame_Del DEL TAT TAT - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr13:77759324_77759326delTAT ENST00000407578.2 - 32 4897_4899 c.4631_4633delATA c.(4630-4635)act>a p.NT1544del MYCBP2_ENST00000357337.6_In_Frame_Del_p.NT1506del|MYCBP2_ENST00000544440.2_In_Frame_Del_p.NT1506del|MYCBP2_ENST00000360084.5_5'UTR NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 1506 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) GCAGTGAAAGTATTATGACATTC 0.419 47 126 --- --- --- --- LAMP1 3916 broad.mit.edu 37 13 113965071 113965071 + Frame_Shift_Del DEL A A - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr13:113965071delA ENST00000332556.4 + 4 645 c.451delA c.(451-453)aafs p.K152fs LAMP1_ENST00000397181.3_Intron NM_005561.3 NP_005552.3 P11279 LAMP1_HUMAN lysosomal-associated membrane protein 1 152 First lumenal domain. endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2) 16 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) AGATATAGATAAAAAATACAG 0.398 70 133 --- --- --- --- SMEK1 55671 broad.mit.edu 37 14 91927912 91927913 + Frame_Shift_Del DEL TT TT - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr14:91927912_91927913delTT ENST00000554684.1 - 14 2660_2661 c.2164_2165delAA c.(2164-2166)cfs p.N722fs SMEK1_ENST00000428424.2_Frame_Shift_Del_p.N496fs|SMEK1_ENST00000337238.4_Frame_Shift_Del_p.N722fs|SMEK1_ENST00000554943.1_Frame_Shift_Del_p.N735fs|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000555462.1_Frame_Shift_Del_p.N496fs Q6IN85 P4R3A_HUMAN SMEK homolog 1, suppressor of mek1 (Dictyostelium) 735 microtubule organizing center|nucleus protein binding NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1) 6 all_cancers(154;0.0691)|all_epithelial(191;0.219) COAD - Colon adenocarcinoma(157;0.221) TCCAGAAAGGTTTGTTTTCAGA 0.421 220 104 --- --- --- --- LOC283683 283683 broad.mit.edu 37 15 23114116 23114116 + RNA DEL A A - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr15:23114116delA ENST00000557922.1 - 0 243 NR_040057.1 TACATACCCTAAAAAAAAGCC 0.363 11 8 --- --- --- --- HERC2P2 400322 broad.mit.edu 37 15 23299147 23299147 + RNA DEL A A - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr15:23299147delA ENST00000560464.1 - 0 4510 ACATTCAAAGAAAAAAAAAAA 0.313 5 4 --- --- --- --- DNAJC17 55192 broad.mit.edu 37 15 41067229 41067231 + Splice_Site DEL CTT CTT - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr15:41067229_41067231delCTT ENST00000220496.4 - 8 628_630 c.600_splice c.e8+1 p.K200_splice NM_018163.2 NP_060633.1 Q9NVM6 DJC17_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 17 200 RRM. protein folding heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1) 6 all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) CAGGGCCGACCTTCTGCAAAAGC 0.488 29 67 --- --- --- --- SCAPER 49855 broad.mit.edu 37 15 76958026 76958026 + Frame_Shift_Del DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr15:76958026delT ENST00000538941.2 - 21 2814 c.1875delA c.(1873-1875)aafs p.K625fs SCAPER_ENST00000324767.7_Frame_Shift_Del_p.K871fs|SCAPER_ENST00000563290.1_Frame_Shift_Del_p.K871fs NM_001145923.1 NP_001139395.1 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 870 Glu-rich. endoplasmic reticulum|nucleus zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 TCTTTTTGGCTTTTTTTTTAT 0.338 14 25 --- --- --- --- CLDN6 9074 broad.mit.edu 37 16 3065456 3065456 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:3065456delC ENST00000396925.1 - 3 995 c.567delG c.(565-567)ggfs p.G189fs CLDN6_ENST00000328796.4_Frame_Shift_Del_p.G189fs|CLDN6_ENST00000572154.1_Intron P56747 CLD6_HUMAN claudin 6 189 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 10 GGCCCTGGGACCCCCCCGAGG 0.642 21 57 --- --- --- --- GRIN2A 2903 broad.mit.edu 37 16 9857380 9857380 + Frame_Shift_Del DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:9857380delT ENST00000396573.2 - 14 4330 c.4021delA c.(4021-4023)gcfs p.S1342fs GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000396575.2_Frame_Shift_Del_p.S1342fs|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000330684.3_Frame_Shift_Del_p.S1342fs NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1342 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) AAAAGGGAGCTTTTTTTCCCC 0.542 51 114 --- --- --- --- ACSM3 6296 broad.mit.edu 37 16 20796371 20796371 + Frame_Shift_Del DEL A A - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:20796371delA ENST00000289416.5 + 8 1560 c.1085delA c.(1084-1086)gafs p.E362fs ACSM3_ENST00000440284.2_Frame_Shift_Del_p.E362fs|ACSM3_ENST00000567387.1_3'UTR|ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000450120.2_Frame_Shift_Del_p.E354fs NM_005622.3 NP_005613.2 Q53FZ2 ACSM3_HUMAN acyl-CoA synthetase medium-chain family member 3 362 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 21 GACGTGACTGAAAAATGGAGA 0.428 60 144 --- --- --- --- PLK1 5347 broad.mit.edu 37 16 23690512 23690513 + Frame_Shift_Del DEL TC TC - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:23690512_23690513delTC ENST00000300093.4 + 1 370_371 c.259_260delTC c.(259-261)tfs p.S87fs PLK1_ENST00000564202.1_3'UTR NM_005030.3 NP_005021.2 P53350 PLK1_HUMAN polo-like kinase 1 87 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(48;0.0156) TGTGCCTAAGTCTCTGCTGCTC 0.584 12 24 --- --- --- --- VPS35 55737 broad.mit.edu 37 16 46695735 46695735 + Frame_Shift_Del DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:46695735delT ENST00000299138.7 - 16 2164 c.2106delA c.(2104-2106)aafs p.K702fs NM_018206.4 NP_060676.2 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 homolog (S. cerevisiae) 702 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1) 23 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TTTTTAGAGCTTTTTTTAGGC 0.368 7 336 --- --- --- --- SLC7A6 9057 broad.mit.edu 37 16 68321684 68321685 + Frame_Shift_Ins INS - - G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:68321684_68321685insG ENST00000566454.1 + 5 828_829 c.559_560insG c.(559-561)gggfs p.G187fs SLC7A6_ENST00000219343.6_Frame_Shift_Ins_p.G187fs NM_001076785.2 NP_001070253.1 Q92536 YLAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, y+L system), member 6 187 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|antiporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 16 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948) CTATGTCAAGTGGGGCACACGT 0.540 49 106 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372597 74372597 + RNA DEL A A - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:74372597delA ENST00000429810.2 - 0 1599 TTCCCAGGACAAAAAAAAAAA 0.403 19 12 --- --- --- --- ZDHHC7 55625 broad.mit.edu 37 16 85010045 85010045 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr16:85010045delC ENST00000313732.4 - 8 1183 c.831delG c.(829-831)ggfs p.G277fs ZDHHC7_ENST00000564466.1_Frame_Shift_Del_p.G314fs NM_017740.2 NP_060210.2 Q9NXF8 ZDHC7_HUMAN zinc finger, DHHC-type containing 7 277 integral to membrane acyltransferase activity|protein binding|zinc ion binding large_intestine(6)|lung(4) 10 GTGAGGGGGGCCCCCCAAAGA 0.577 37 68 --- --- --- --- GP1BA 2811 broad.mit.edu 37 17 4837372 4837373 + Frame_Shift_Ins INS - - A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:4837372_4837373insA ENST00000329125.5 + 2 1548_1549 c.1473_1474insA c.(1471-1476)acaaaafs p.TK491fs NM_000173.5 NP_000164.5 E7ES66 E7ES66_HUMAN glycoprotein Ib (platelet), alpha polypeptide 491 p.T494fs*59(1) central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1) 20 TAGAATCCACCAAAAAAACCAT 0.500 44 82 --- --- --- --- KDM6B 23135 broad.mit.edu 37 17 7748975 7748975 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:7748975delC ENST00000254846.5 + 4 492 c.103delC c.(103-105)ccfs p.P37fs KDM6B_ENST00000448097.2_Frame_Shift_Del_p.P37fs NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 37 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 CCCGCCTCATCCCCCTCCTCG 0.657 59 150 --- --- --- --- MYOCD 93649 broad.mit.edu 37 17 12626277 12626278 + Frame_Shift_Ins INS - - A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:12626277_12626278insA ENST00000425538.1 + 5 567_568 c.367_368insA c.(367-369)aaafs p.K123fs MYOCD_ENST00000343344.4_Frame_Shift_Ins_p.K123fs|MYOCD_ENST00000395988.1_Frame_Shift_Ins_p.K27fs NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 123 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GGAGCTGGTGGAAAAAAACATT 0.470 55 192 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29664535 29664536 + Frame_Shift_Del DEL GA GA - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:29664535_29664536delGA ENST00000358273.4 + 43 6960_6961 c.6577_6578delGA c.(6577-6579)gfs p.E2193fs NF1_ENST00000356175.3_Frame_Shift_Del_p.E2172fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2193 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3)|p.E2193fs*48(1) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TGGCTCCTATGAGAGAGAGACT 0.421 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 55 148 --- --- --- --- ACBD4 79777 broad.mit.edu 37 17 43214792 43214793 + Frame_Shift_Ins INS - - C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:43214792_43214793insC ENST00000431281.1 + 8 942_943 c.473_474insC c.(472-474)cccfs p.P158fs ACBD4_ENST00000321854.8_Frame_Shift_Ins_p.P158fs|ACBD4_ENST00000586346.1_Frame_Shift_Ins_p.P158fs|ACBD4_ENST00000591859.1_Frame_Shift_Ins_p.P158fs|ACBD4_ENST00000376955.4_Frame_Shift_Ins_p.P158fs|ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000398322.3_Frame_Shift_Ins_p.P158fs|ACBD4_ENST00000592162.1_Frame_Shift_Ins_p.P158fs NM_001135704.1 NP_001129176.1 Q8NC06 ACBD4_HUMAN acyl-CoA binding domain containing 4 158 fatty-acyl-CoA binding kidney(1)|lung(3)|ovary(1) 5 CCTCCCTGCCTCCCCAAGGAAC 0.629 18 43 --- --- --- --- RPS6KB1 6198 broad.mit.edu 37 17 58012656 58012656 + Frame_Shift_Del DEL A A - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:58012656delA ENST00000225577.4 + 10 994 c.973delA c.(973-975)aafs p.K326fs RPS6KB1_ENST00000443572.2_Frame_Shift_Del_p.K303fs|RPS6KB1_ENST00000393021.3_Frame_Shift_Del_p.K273fs|RPS6KB1_ENST00000406116.3_Frame_Shift_Del_p.K326fs NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2 NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1 P23443 KS6B1_HUMAN ribosomal protein S6 kinase, 70kDa, polypeptide 1 326 Protein kinase. apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome ATP binding|protein binding|protein kinase activity endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.57e-12)|all cancers(12;6.41e-11) AGATCTGCTTAAAAAGGTAAG 0.338 29 58 --- --- --- --- HEATR6 63897 broad.mit.edu 37 17 58121377 58121378 + Frame_Shift_Del DEL CT CT - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:58121377_58121378delCT ENST00000184956.6 - 20 3108_3109 c.3092_3093delAG c.(3091-3093)gfs p.E1031fs HEATR6_ENST00000585976.1_Frame_Shift_Del_p.E919fs NM_022070.4 NP_071353.4 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 1031 binding NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) ACCCGTACTGCTCTCTCTTCCC 0.505 7 252 --- --- --- --- INTS2 57508 broad.mit.edu 37 17 59999160 59999160 + Frame_Shift_Del DEL A A - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:59999160delA ENST00000444766.3 - 4 560 c.485delT c.(484-486)tcfs p.F162fs INTS2_ENST00000251334.6_Frame_Shift_Del_p.F154fs NM_020748.2 NP_065799.1 Q9H0H0 INT2_HUMAN integrator complex subunit 2 162 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 AGAAGACTTGAAAAAAAATTC 0.299 29 97 --- --- --- --- STRADA 92335 broad.mit.edu 37 17 61781804 61781804 + Frame_Shift_Del DEL G G - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:61781804delG ENST00000392950.4 - 9 1159 c.886delC c.(886-888)ggfs p.R296fs STRADA_ENST00000579340.1_3'UTR|STRADA_ENST00000447001.3_Frame_Shift_Del_p.R289fs|STRADA_ENST00000245865.5_3'UTR|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000336174.6_Frame_Shift_Del_p.R333fs|STRADA_ENST00000375840.4_Frame_Shift_Del_p.R275fs|STRADA_ENST00000582137.1_Frame_Shift_Del_p.R304fs NM_001003786.2|NM_001165969.1|NM_153335.5 NP_001003786.1|NP_001159441.1|NP_699166.2 Q7RTN6 STRAA_HUMAN STE20-related kinase adaptor alpha 333 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|kinase binding|protein kinase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2) 13 TTGGAGGGCCGGGGGGTGCTG 0.647 18 42 --- --- --- --- UBE2O 63893 broad.mit.edu 37 17 74394955 74394957 + In_Frame_Del DEL GTT GTT - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:74394955_74394957delGTT ENST00000319380.7 - 10 1808_1810 c.1744_1746delAAC c.(1744-1746)del p.N582del UBE2O_ENST00000587581.1_5'UTR NM_022066.3 NP_071349.3 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 582 ATP binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 GGCAGAACTCGTTGTTGTCCAGG 0.611 7 345 --- --- --- --- SOCS3 9021 broad.mit.edu 37 17 76354878 76354878 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr17:76354878delC ENST00000330871.2 - 2 714 c.299delG c.(298-300)gcfs p.G100fs NM_003955.3 NP_003946.3 O14543 SOCS3_HUMAN suppressor of cytokine signaling 3 100 SH2. anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol protein kinase inhibitor activity kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554) AGAGAAGCTGCCCCCCTCACA 0.647 8 25 --- --- --- --- PIGN 23556 broad.mit.edu 37 18 59814310 59814310 + Frame_Shift_Del DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr18:59814310delT ENST00000357637.5 - 9 1114 c.699delA c.(697-699)aafs p.K233fs PIGN_ENST00000400334.3_Frame_Shift_Del_p.K233fs NM_176787.4 NP_789744.1 O95427 PIGN_HUMAN phosphatidylinositol glycan anchor biosynthesis, class N 233 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphotransferase activity, for other substituted phosphate groups breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(73;0.187) CATCATCAACTTTTTTAATAT 0.303 22 36 --- --- --- --- ADNP2 22850 broad.mit.edu 37 18 77895513 77895513 + Frame_Shift_Del DEL A A - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr18:77895513delA ENST00000262198.4 + 4 2672 c.2217delA c.(2215-2217)ctfs p.L739fs NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 739 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) CACCATTTCTAAAGTGGATGA 0.502 77 136 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9059693 9059701 + In_Frame_Del DEL TGTGGCCTT TGTGGCCTT - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:9059693_9059701delTGTGGCCTT ENST00000397910.4 - 3 27948_27956 c.27745_27753delAAGGCCACA c.(27745-27753)del p.KAT9249del NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9251 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 CCATTGAAGATGTGGCCTTTGTTGTCACT 0.450 37 53 --- --- --- --- PDE4C 5143 broad.mit.edu 37 19 18329753 18329753 + Frame_Shift_Del DEL A A - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:18329753delA ENST00000355502.3 - 13 1933 c.1062delT c.(1060-1062)ttfs p.F354fs PDE4C_ENST00000447275.2_Frame_Shift_Del_p.F248fs|PDE4C_ENST00000594617.2_Frame_Shift_Del_p.F354fs|PDE4C_ENST00000262805.11_Frame_Shift_Del_p.F322fs|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000539010.1_Frame_Shift_Del_p.F123fs|PDE4C_ENST00000594465.2_Frame_Shift_Del_p.F354fs Q08493 PDE4C_HUMAN phosphodiesterase 4C, cAMP-specific 354 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) TAGGTACCTGAAAAATGCTGA 0.507 53 98 --- --- --- --- CRTC1 23373 broad.mit.edu 37 19 18887993 18887993 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:18887993delC ENST00000338797.6 + 15 1779 c.1754delC c.(1753-1755)tcfs p.S585fs CRTC1_ENST00000321949.8_Frame_Shift_Del_p.S569fs|CRTC1_ENST00000601916.1_Frame_Shift_Del_p.S327fs|CRTC1_ENST00000594658.1_Frame_Shift_Del_p.S528fs NM_001098482.1 NP_001091952.1 Q6UUV9 CRTC1_HUMAN CREB regulated transcription coactivator 1 569 interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding p.S572fs*6(2) CRTC1/MAML2(516) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 19 ACAGGAGAGTCCCCCCCCAGC 0.637 29 49 --- --- --- --- ZFP82 284406 broad.mit.edu 37 19 36883652 36883655 + Frame_Shift_Del DEL TACA TACA - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:36883652_36883655delTACA ENST00000392161.3 - 5 1829_1832 c.1587_1590delTGTA c.(1585-1590)aafs p.NV529fs ZFP82_ENST00000392171.1_Frame_Shift_Del_p.NV529fs NM_133466.2 NP_597723.1 Q8N141 ZFP82_HUMAN ZFP82 zinc finger protein 529 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CTTAGATTTTTACATTATGAATTT 0.333 35 66 --- --- --- --- PLEKHG2 64857 broad.mit.edu 37 19 39914446 39914446 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:39914446delC ENST00000425673.1 + 17 2911 c.2586delC c.(2584-2586)gtfs p.V862fs PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Frame_Shift_Del_p.V832fs|PLEKHG2_ENST00000409794.3_Frame_Shift_Del_p.V891fs|PLEKHG2_ENST00000378550.1_Intron Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 891 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) AGGAGTCTGTCCCCCTGGGTC 0.572 41 62 --- --- --- --- CD3EAP 10849 broad.mit.edu 37 19 45911859 45911861 + In_Frame_Del DEL GAA GAA - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:45911859_45911861delGAA ENST00000309424.3 + 3 1121_1123 c.633_635delGAA c.(631-636)cgg>cg p.RK211del ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del NM_012099.1 NP_036231.1 O15446 RPA34_HUMAN CD3e molecule, epsilon associated protein 211 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) TGGATGTGCGGAAGAAGAAGAAG 0.581 7 177 --- --- --- --- PPFIA3 8541 broad.mit.edu 37 19 49641637 49641637 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:49641637delC ENST00000334186.4 + 16 2378 c.2029delC c.(2029-2031)ccfs p.P677fs PPFIA3_ENST00000602351.1_Frame_Shift_Del_p.P677fs NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 677 cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) CCACTCAACACCCCGCCTGGC 0.682 17 77 --- --- --- --- TBC1D17 79735 broad.mit.edu 37 19 50381462 50381465 + Frame_Shift_Del DEL CTCT CTCT - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:50381462_50381465delCTCT ENST00000221543.5 + 2 383_386 c.84_87delCTCT c.(82-87)gafs p.DS28fs TBC1D17_ENST00000535102.2_Intron|TBC1D17_ENST00000598789.1_3'UTR|AKT1S1_ENST00000482622.1_5'UTR NM_024682.2 NP_078958.2 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 28 intracellular Rab GTPase activator activity NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) AGGACCGAGACTCTCTCATCGCTG 0.642 4 9 --- --- --- --- CNOT3 4849 broad.mit.edu 37 19 54651965 54651966 + Frame_Shift_Ins INS - - C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr19:54651965_54651966insC ENST00000406403.1 + 10 2580_2581 c.977_978insC c.(976-978)gccfs p.A326fs CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.A145fs|CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.A326fs O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 326 Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TACCCCTCCGGCCCCCCGCCTG 0.693 5 5 --- --- --- --- LRRN4 164312 broad.mit.edu 37 20 6025250 6025250 + Frame_Shift_Del DEL G G - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr20:6025250delG ENST00000378858.4 - 4 1161 c.937delC c.(937-939)tcfs p.L313fs NM_152611.4 NP_689824.2 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 313 integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 CTGCAAGTGAGGGGGTTGCCA 0.478 14 48 --- --- --- --- CPNE1 8904 broad.mit.edu 37 20 34219276 34219277 + Splice_Site DEL CC CC - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr20:34219276_34219277delCC ENST00000317619.3 - 11 1109 c.714_splice c.e11-1 p.239_splice CPNE1_ENST00000317677.5_Splice_Site_p.244_splice|CPNE1_ENST00000397442.1_Splice_Site_p.239_splice|CPNE1_ENST00000397446.1_Splice_Site_p.239_splice|CPNE1_ENST00000397443.1_Splice_Site_p.239_splice|CPNE1_ENST00000397445.1_Splice_Site_p.239_splice|CPNE1_ENST00000352393.4_Splice_Site_p.239_splice Q99829 CPNE1_HUMAN copine I 239 lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) TCAAACTCAGCCTGGTGAGGAC 0.470 43 137 --- --- --- --- TTI1 9675 broad.mit.edu 37 20 36627613 36627613 + Frame_Shift_Del DEL G G - rs149568606 TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr20:36627613delG ENST00000373448.2 - 6 3008 c.2770delC c.(2770-2772)tgfs p.L924fs TTI1_ENST00000449821.1_Frame_Shift_Del_p.L924fs|TTI1_ENST00000373447.3_Frame_Shift_Del_p.L924fs NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 924 binding p.L924fs*37(1) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 AGCACTGCCAGGGGGGCGTCC 0.577 29 105 --- --- --- --- PPP1R16B 26051 broad.mit.edu 37 20 37547271 37547272 + Frame_Shift_Del DEL AT AT - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr20:37547271_37547272delAT ENST00000299824.1 + 11 1855_1856 c.1666_1667delAT c.(1666-1668)gfs p.M556fs PPP1R16B_ENST00000373331.2_Frame_Shift_Del_p.M514fs NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 556 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) CATAGAGGAGATGGAGGAGAAG 0.574 15 55 --- --- --- --- NFATC2 4773 broad.mit.edu 37 20 50140530 50140531 + Frame_Shift_Ins INS - - G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr20:50140530_50140531insG ENST00000371564.3 - 2 468_469 c.249_250insC c.(247-252)ccgccgfs p.P84fs NFATC2_ENST00000396009.3_Frame_Shift_Ins_p.P84fs|NFATC2_ENST00000414705.1_Frame_Shift_Ins_p.P64fs NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 84 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) CCGAATCGGCCGGGGGGCTCGC 0.663 23 111 --- --- --- --- RBBP8NL 140893 broad.mit.edu 37 20 60989485 60989485 + Frame_Shift_Del DEL G G - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr20:60989485delG ENST00000252998.1 - 10 1078 c.922delC c.(922-924)tgfs p.L308fs NM_080833.2 NP_543023.2 RBBP8 N-terminal like GCAGGGGCCAGGGGGCTGCTG 0.697 7 6 --- --- --- --- ZNF280B 140883 broad.mit.edu 37 22 22842771 22842771 + Frame_Shift_Del DEL T T - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr22:22842771delT ENST00000360412.2 - 4 1728 c.953delA c.(952-954)atfs p.N318fs ZNF280B_ENST00000406426.1_Frame_Shift_Del_p.N318fs NM_080764.2 NP_542942.1 Q86YH2 Z280B_HUMAN zinc finger protein 280B 318 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2) 22 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) AAACTTAACATTTTTTAGAAC 0.463 17 243 --- --- --- --- EIF3L 51386 broad.mit.edu 37 22 38258975 38258975 + Splice_Site DEL G G - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr22:38258975delG ENST00000412331.2 + 6 1017 c.e6-1 EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000406934.1_Splice_Site NM_016091.3 NP_057175.1 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3, subunit L eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TTTCTTTACAGGGGGGACCTT 0.383 69 55 --- --- --- --- CELSR1 9620 broad.mit.edu 37 22 46931227 46931227 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chr22:46931227delC ENST00000262738.3 - 1 1840 c.1841delG c.(1840-1842)gcfs p.G615fs CELSR1_ENST00000395964.1_Frame_Shift_Del_p.G615fs NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 615 Cadherin 4. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) AGCGCTGCCGCCCCCCAGAAA 0.657 19 18 --- --- --- --- RPGR 6103 broad.mit.edu 37 X 38145101 38145101 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chrX:38145101delC ENST00000378505.2 - 15 3327 c.3151delG c.(3151-3153)aafs p.E1051fs RPGR_ENST00000342811.3_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Intron NM_001034853.1 NP_001030025.1 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator 840 intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 tcttctccttccccctccttt 0.542 44 50 --- --- --- --- GABRQ 55879 broad.mit.edu 37 X 151821591 151821591 + Frame_Shift_Del DEL C C - TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chrX:151821591delC ENST00000370306.2 + 9 1766 c.1746delC c.(1744-1746)tgfs p.C582fs NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 582 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) AGGATAGTTGCCCCCCAAGCC 0.517 50 76 --- --- --- --- BRCC3 79184 broad.mit.edu 37 X 154344352 154344353 + Frame_Shift_Ins INS - - A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1d2022-4a61-4652-9f0c-8c92dfcb6d38 6b061e59-9fc8-4777-89ea-8887bfbba9c1 g.chrX:154344352_154344353insA ENST00000369462.1 + 9 669_670 c.644_645insA c.(643-645)catfs p.H215fs BRCC3_ENST00000369459.2_Intron|BRCC3_ENST00000330045.7_Frame_Shift_Ins_p.H190fs|BRCC3_ENST00000340647.4_Frame_Shift_Ins_p.H191fs|BRCC3_ENST00000399042.1_Frame_Shift_Ins_p.H215fs|MTCP1_ENST00000362018.2_Intron NM_024332.3 NP_077308.1 P46736 BRCC3_HUMAN BRCA1/BRCA2-containing complex, subunit 3 215 double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1) 22 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ATCGAAATCCCAATCCATATTG 0.436 36 27 --- --- --- ---