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 HHIP 64399 broad.mit.edu 37 4 145567871 145567871 + Missense_Mutation SNP C C T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr4:145567871C>T ENST00000296575.3 + 1 699 c.44C>T c.(43-45)gCt>gTt p.A15V HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.A15V NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 15 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) CTGGCCGTGGCTCTGGGCTTC 0.617000 OREG0016346 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 84 0 0 0.000814825 0 0 RARS 5917 broad.mit.edu 37 5 167943887 167943887 + Silent SNP C C T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr5:167943887C>T ENST00000231572.3 + 13 1611 c.1557C>T c.(1555-1557)tcC>tcT p.S519S RARS_ENST00000538719.1_Silent_p.S313S NM_002887.3 NP_002878.2 P54136 SYRC_HUMAN arginyl-tRNA synthetase 519 arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1) 22 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) ACATCTTCTCCTTTGACAAAA 0.413000 32 78 0 0 0.00283554 0 0 VAV1 7409 broad.mit.edu 37 19 6821684 6821684 + Missense_Mutation SNP G G A TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr19:6821684G>A ENST00000304076.2 + 3 467 c.373G>A c.(373-375)Ggg>Agg p.G125R VAV1_ENST00000599806.1_Missense_Mutation_p.G70R|VAV1_ENST00000539284.1_Missense_Mutation_p.G60R|VAV1_ENST00000602142.1_Missense_Mutation_p.G125R|VAV1_ENST00000596764.1_Missense_Mutation_p.G125R NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 125 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 CCAGAACAGGGGGATCATGTG 0.642000 9 50 0 0 0.000978159 0 0 CNGA4 1262 broad.mit.edu 37 11 6263033 6263033 + Silent SNP C C T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr11:6263033C>T ENST00000533426.1 + 5 748 c.597C>T c.(595-597)tcC>tcT p.S199S CNGA4_ENST00000379936.2_Intron Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 0 response to stimulus|sensory perception of smell cAMP binding endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTATTTGTTCCAGGGACAAGG 0.522000 18 44 0 0 0.000566183 0 0 DCDC1 341019 broad.mit.edu 37 11 31086649 31086649 + Missense_Mutation SNP C C T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr11:31086649C>T ENST00000597505.1 - 17 2349 c.2350G>A c.(2350-2352)Gat>Aat p.D784N DCDC1_ENST00000437348.1_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) TGGGTCACATCTACTTGTGCA 0.438000 5 10 0 0 0.000602214 0 0 ACAD10 80724 broad.mit.edu 37 12 112153653 112153653 + Silent SNP C C T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr12:112153653C>T ENST00000455480.2 + 8 1149 c.972C>T c.(970-972)caC>caT p.H324H ACAD10_ENST00000549590.1_Silent_p.H293H|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000313698.4_Silent_p.H293H NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 293 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 AGTTTGATCACGGGCAGTCAA 0.473000 33 109 0 0 0.0024448 0 0 TRMT61B 55006 broad.mit.edu 37 2 29092917 29092917 + Missense_Mutation SNP T T G TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr2:29092917T>G ENST00000306108.5 - 1 250 c.227A>C c.(226-228)gAc>gCc p.D76A NM_017910.3 NP_060380.3 Q9BVS5 TR61B_HUMAN tRNA methyltransferase 61 homolog B (S. cerevisiae) 76 tRNA (adenine-N1-)-methyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(8) 13 AGTCCCAATGTCCGAGATGCT 0.587000 9 82 0 0 0.000442599 0 0 IGHV4-34 28395 broad.mit.edu 37 14 106829985 106829985 + RNA SNP G G A TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr14:106829985G>A ENST00000390616.2 - 0 91 TCACATCTGGGAGCTGCCACC 0.532000 10 39 0 0 0.00136819 0 0 COL23A1 91522 broad.mit.edu 37 5 177683870 177683870 + Silent SNP C C T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr5:177683870C>T ENST00000390654.3 - 14 1191 c.834G>A c.(832-834)ccG>ccA p.P278P COL23A1_ENST00000407622.1_Silent_p.P242P NM_173465.3 NP_775736.2 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 278 Collagen-like 2.|Gly-rich. collagen|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) 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) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) ATGTCACCTTCGGTCCTGGGG 0.632000 10 15 0 0 0.000673444 0 0 ZNF780B 163131 broad.mit.edu 37 19 40540452 40540452 + Nonsense_Mutation SNP G G A TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr19:40540452G>A ENST00000434248.1 - 5 2379 c.2314C>T c.(2314-2316)Cag>Tag p.Q772* ZNF780B_ENST00000221355.6_Nonsense_Mutation_p.Q624* NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 772 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TGAATACTCTGAGGTTGAACA 0.418000 21 40 0 0 0.00188189 0 0 CASKIN2 57513 broad.mit.edu 37 17 73497865 73497865 + Missense_Mutation SNP C C T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr17:73497865C>T ENST00000321617.3 - 18 3876 c.3290G>A c.(3289-3291)gGa>gAa p.G1097E CASKIN2_ENST00000433559.2_Missense_Mutation_p.G1015E NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 1097 Pro-rich. cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CTTACCTGCTCCGGGCACCTT 0.642000 40 94 0 0 0.00222228 0 0 IPO13 9670 broad.mit.edu 37 1 44432250 44432250 + Silent SNP C C T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr1:44432250C>T ENST00000372343.3 + 16 3063 c.2401C>T c.(2401-2403)Ctg>Ttg p.L801L IPO13_ENST00000372339.3_Silent_p.L19L NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 801 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) CCTGCAGGCTCTGAAGCGGAA 0.607000 21 63 0 0 0.00229938 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209191128 209191128 + Missense_Mutation SNP T T G TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr2:209191128T>G ENST00000264380.4 + 20 3751 c.3593T>G c.(3592-3594)cTg>cGg p.L1198R NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 1198 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 GGGCTTATTCTGAGTGATGCT 0.433000 4 13 0 0 0.000602214 0 0 GNAQ 2776 broad.mit.edu 37 9 80409488 80409488 + Missense_Mutation SNP T T G rs121913492 TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr9:80409488T>G ENST00000286548.4 - 5 848 c.626A>C c.(625-627)cAa>cCa p.Q209P GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P NM_002072.3 NP_002063.2 P50148 GNAQ_HUMAN guanine nucleotide binding protein (G protein), q polypeptide 209 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1) NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1) 302 CTCTGACCTTTGGCCCCCTAC 0.348000 Mis uveal melanoma 18 22 0 0 0.00047179 0 0 MRS2 57380 broad.mit.edu 37 6 24412529 24412529 + Missense_Mutation SNP G G T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr6:24412529G>T ENST00000378386.3 + 5 587 c.494G>T c.(493-495)cGg>cTg p.R165L MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000443868.2_Missense_Mutation_p.R168L|MRS2_ENST00000483634.1_3'UTR|MRS2_ENST00000378353.1_Missense_Mutation_p.R165L|MRS2_ENST00000535061.1_Missense_Mutation_p.R115L NM_020662.2 NP_065713.1 Q9HD23 MRS2_HUMAN MRS2 magnesium transporter 165 ion transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 TGGCTGTTCCGGGAACTCCCT 0.378000 5 100 0.00116845 0.00879911 0.00116845 1 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 18 0 0 6.4e-05 0 0 MDH2 4191 broad.mit.edu 37 7 75694157 75694157 + Silent SNP C C T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr7:75694157C>T ENST00000315758.5 + 8 865 c.771C>T c.(769-771)cgC>cgT p.R257R MDH2_ENST00000443006.1_Silent_p.R150R|MDH2_ENST00000432020.2_Silent_p.R215R NM_005918.2 NP_005909.2 P40926 MDHM_HUMAN malate dehydrogenase 2, NAD (mitochondrial) 257 gluconeogenesis|malate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus|plasma membrane binding|L-malate dehydrogenase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2) 14 NADH(DB00157) CCGGCGCCCGCTTTGTCTTCT 0.572000 13 31 0 0 0.00185496 0 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89100816 89100816 + RNA SNP A A G rs148138279 by1000genomes TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr2:89100816A>G ENST00000393525.3 + 0 1290 AGCAAGCAGAAAGAGAAGTAA 0.303000 3 8 0 0 0.00024832 0 0 MC5R 4161 broad.mit.edu 37 18 13826737 13826737 + Missense_Mutation SNP G G A TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr18:13826737G>A ENST00000324750.3 + 1 1195 c.973G>A c.(973-975)Gat>Aat p.D325N NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 325 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 TCCCAGAAGGGATTAAGCACA 0.522000 26 65 0 0 0.000720815 0 0 DGKG 1608 broad.mit.edu 37 3 185970917 185970917 + Missense_Mutation SNP C C T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr3:185970917C>T ENST00000265022.3 - 18 2104 c.1565G>A c.(1564-1566)gGa>gAa p.G522E DGKG_ENST00000382164.4_Missense_Mutation_p.G483E|DGKG_ENST00000344484.4_Missense_Mutation_p.G497E|DGKG_ENST00000544847.1_Missense_Mutation_p.G463E NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 522 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) AAGGTCATTTCCTGTTCCAAG 0.517000 17 58 0 0 0.00188189 0 0 FOSB 2354 broad.mit.edu 37 19 45974075 45974075 + Silent SNP C C T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr19:45974075C>T ENST00000353609.3 + 2 907 c.315C>T c.(313-315)tcC>tcT p.S105S ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000592811.1_Silent_p.S56S|FOSB_ENST00000590335.1_Silent_p.S105S|FOSB_ENST00000417353.2_Silent_p.S105S|FOSB_ENST00000585836.1_Silent_p.S66S|FOSB_ENST00000592436.1_Silent_p.S105S|FOSB_ENST00000591858.1_Silent_p.S66S|FOSB_ENST00000586615.1_Silent_p.S56S|FOSB_ENST00000443841.2_Intron NM_006732.2 NP_006723.2 P53539 FOSB_HUMAN FBJ murine osteosarcoma viral oncogene homolog B 105 behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1) 13 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242) CCAGCTACTCCACACCAGGCA 0.682000 50 134 0 0 0.000781405 0 0 CLEC14A 161198 broad.mit.edu 37 14 38723898 38723898 + Missense_Mutation SNP C C T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr14:38723898C>T ENST00000342213.2 - 1 1676 c.1330G>A c.(1330-1332)Gag>Aag p.E444K NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 444 integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) GGATCACTCTCCAGGCCCGGC 0.582000 21 49 0 0 0.00188189 0 0 MYOM2 9172 broad.mit.edu 37 8 2021526 2021526 + Missense_Mutation SNP C C A TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr8:2021526C>A ENST00000262113.4 + 10 1207 c.1066C>A c.(1066-1068)Cgc>Agc p.R356S MYOM2_ENST00000523438.1_Intron NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 356 Ig-like C2-type 2. 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) GTACACCCTGCGCATCGTGTC 0.617000 10 26 4.68919e-08 3.68151e-07 0.000673444 1 0 STK33 65975 broad.mit.edu 37 11 8435127 8435127 + Missense_Mutation SNP G G T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr11:8435127G>T ENST00000447869.1 - 11 2177 c.1259C>A c.(1258-1260)tCc>tAc p.S420Y STK33_ENST00000473980.1_5'UTR|STK33_ENST00000315204.1_Missense_Mutation_p.S420Y|STK33_ENST00000534493.1_Missense_Mutation_p.S379Y|STK33_ENST00000396672.1_Missense_Mutation_p.S420Y|STK33_ENST00000396673.1_Intron|STK33_ENST00000358872.3_Missense_Mutation_p.S233Y Q9BYT3 STK33_HUMAN serine/threonine kinase 33 420 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) TTCTTCAGTGGACGGCTTATT 0.403000 16 54 1.52009e-12 1.21938e-11 0.000308642 1 0 LRP1B 53353 broad.mit.edu 37 2 141201982 141201982 + Missense_Mutation SNP G G A TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr2:141201982G>A ENST00000389484.3 - 65 11182 c.10211C>T c.(10210-10212)aCc>aTc p.T3404I NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3404 LDL-receptor class A 23. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTGGTTCTTGGTACATTTGAA 0.383000 TSP Lung(27;0.18) 4 11 0 0 0.00024832 0 0 CYP2B7P 1556 broad.mit.edu 37 19 41430339 41430339 + RNA SNP C C T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr19:41430339C>T ENST00000599198.1 + 0 216 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 TACTCAAATCCTTTCTGAGGG 0.562000 24 53 0 0 0.000878237 0 0 IGHV4-34 28395 broad.mit.edu 37 14 106829984 106829984 + RNA SNP G G A TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr14:106829984G>A ENST00000390616.2 - 0 92 CTCACATCTGGGAGCTGCCAC 0.537000 10 40 0 0 0.00136819 0 0 CNTN6 27255 broad.mit.edu 37 3 1414548 1414548 + Silent SNP G G A TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr3:1414548G>A ENST00000446702.2 + 14 2322 c.1695G>A c.(1693-1695)agG>agA p.R565R CNTN6_ENST00000350110.2_Silent_p.R565R|CNTN6_ENST00000539053.1_Silent_p.R493R Q9UQ52 CNTN6_HUMAN contactin 6 565 Ig-like C2-type 6. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TGATGATAAGGAATATTCAGT 0.373000 8 36 0 0 0.000673444 0 0 HNRNPD 3184 broad.mit.edu 37 4 83277705 83277705 + Missense_Mutation SNP A A G TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr4:83277705A>G ENST00000313899.7 - 7 1262 c.985T>C c.(985-987)Tat>Cat p.Y329H HNRNPD_ENST00000353341.4_Intron|HNRNPD_ENST00000352301.4_Missense_Mutation_p.Y310H|HNRNPD_ENST00000543098.1_Missense_Mutation_p.Y277H|HNRNPD_ENST00000541060.1_Missense_Mutation_p.Y175H|HNRNPD_ENST00000508119.1_Intron NM_031370.2 NP_112738.1 Q14103 HNRPD_HUMAN heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) 329 Gly-rich.|Tyr-rich. nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|telomeric DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1) 7 TAATCACCATATCCATAGTAG 0.348000 13 33 0 0 0.000308642 0 0 NUTM2B-AS1 101060691 broad.mit.edu 37 10 81443120 81443120 + RNA SNP G G A rs141959862 by1000genomes TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr10:81443120G>A ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA ACCCTCCCTCGGGGGACCTGC 0.557000 5 55 0 0 0.00116845 0 0 SEMA5B 54437 broad.mit.edu 37 3 122629053 122629053 + Silent SNP G G A TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr3:122629053G>A ENST00000357599.3 - 23 3779 c.3393C>T c.(3391-3393)ccC>ccT p.P1131P SEMA5B_ENST00000451055.2_Silent_p.P1185P|SEMA5B_ENST00000195173.4_3'UTR NM_001031702.3|NM_001256348.1 NP_001026872.2|NP_001243277.1 Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 1131 cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) GTTTGTTCAGGGGGCTTGGGT 0.542000 21 49 0 0 0.00229938 0 0 PPIL2 23759 broad.mit.edu 37 22 22049076 22049076 + Silent SNP C C T rs148599036 TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr22:22049076C>T ENST00000406385.1 + 18 1362 c.1302C>T c.(1300-1302)ttC>ttT p.F434F PPIL2_ENST00000456792.2_Silent_p.F413F|PPIL2_ENST00000492445.2_Silent_p.F434F|PPIL2_ENST00000335025.7_Silent_p.F434F|PPIL2_ENST00000398831.3_Silent_p.F434F|PPIL2_ENST00000412327.1_Silent_p.F434F Q13356 PPIL2_HUMAN peptidylprolyl isomerase (cyclophilin)-like 2 434 blood coagulation|leukocyte migration|protein folding|protein polyubiquitination Golgi lumen|nucleus|ubiquitin ligase complex peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 17 Colorectal(54;0.105) CTACAGTGTTCGTGGACCCCT 0.647000 14 54 0 0 0.000308642 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3674962 3674962 + Silent SNP G G A TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr20:3674962G>A ENST00000344754.4 - 12 3161 c.3162C>T c.(3160-3162)atC>atT p.I1054I SIGLEC1_ENST00000202578.4_Silent_p.I1054I NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 1054 Ig-like C2-type 10. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 TAGCCCCGTGGATCTCCAGAC 0.627000 40 119 0 0 0.0025221 0 0 AP1M1 8907 broad.mit.edu 37 19 16345235 16345235 + Missense_Mutation SNP C C T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr19:16345235C>T ENST00000291439.3 + 12 1710 c.1261C>T c.(1261-1263)Cgg>Tgg p.R421W AP1M1_ENST00000541844.1_Missense_Mutation_p.R349W|AP1M1_ENST00000444449.2_Missense_Mutation_p.R433W|AP1M1_ENST00000429941.2_Missense_Mutation_p.R368W|AP1M1_ENST00000590756.1_Missense_Mutation_p.R349W NM_032493.3 NP_115882.1 Q9BXS5 AP1M1_HUMAN adaptor-related protein complex 1, mu 1 subunit 421 MHD. cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|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 protein binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2) 21 TTACCAGCTCCGGACCCAGTG 0.687000 12 38 0 0 0.00185496 0 0 FRG1B 284802 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 5 31 0 0 0.00116845 0 0 TAOK2 9344 broad.mit.edu 37 16 29998819 29998819 + Missense_Mutation SNP C C T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr16:29998819C>T ENST00000308893.4 + 16 4269 c.3226C>T c.(3226-3228)Cgg>Tgg p.R1076W TAOK2_ENST00000543033.1_Missense_Mutation_p.R963W|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Missense_Mutation_p.R903W NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 1076 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 GCAGGGCCCCCGGGTGCGCCG 0.701000 10 54 0 0 0.00136819 0 0 KRTAP1-1 81851 broad.mit.edu 37 17 39197549 39197549 + Missense_Mutation SNP G G C TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr17:39197549G>C ENST00000306271.4 - 1 164 c.101C>G c.(100-102)tCc>tGc p.S34C NM_030967.2 NP_112229.1 Q07627 KRA11_HUMAN keratin associated protein 1-1 34 Missing (in allele KAP1.7).|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6). extracellular region|keratin filament p.S34C(6) NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1) 14 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCTGGCAGGAGCTGGTCTC 0.612000 4 158 0 0 0.00116845 0 0 GRB14 2888 broad.mit.edu 37 2 165383625 165383625 + Missense_Mutation SNP C C T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr2:165383625C>T ENST00000263915.3 - 4 1040 c.502G>A c.(502-504)Gaa>Aaa p.E168K GRB14_ENST00000543549.1_Missense_Mutation_p.E81K NM_004490.2 NP_004481.2 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 168 Ras-associating. blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 ATCACCAGTTCGTGGTCTTCT 0.264000 8 20 0 0 0.000442599 0 0 TEX101 83639 broad.mit.edu 37 19 43922418 43922418 + Missense_Mutation SNP G G A TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr19:43922418G>A ENST00000602198.1 + 8 1115 c.673G>A c.(673-675)Gaa>Aaa p.E225K TEX101_ENST00000598265.1_Missense_Mutation_p.E207K|TEX101_ENST00000253435.7_Missense_Mutation_p.E225K|TEX101_ENST00000601707.1_3'UTR NM_031451.4 NP_113639.4 Q9BY14 TX101_HUMAN testis expressed 101 207 anchored to membrane|plasma membrane large_intestine(1)|lung(12)|ovary(1)|skin(1) 15 Prostate(69;0.0199) GTTTGTGAGGGAAGCGTGCCC 0.527000 30 68 0 0 0.00127121 0 0 PGLYRP2 114770 broad.mit.edu 37 19 15582857 15582857 + Missense_Mutation SNP C C T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr19:15582857C>T ENST00000292609.4 - 3 1316 c.1187G>A c.(1186-1188)cGc>cAc p.R396H PGLYRP2_ENST00000340880.4_Missense_Mutation_p.R396H Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 396 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1) 28 CAGCTTCGGGCGGCCCCGATA 0.657000 6 34 0 0 0.000157383 0 0 AP1M1 8907 broad.mit.edu 37 19 16345234 16345234 + Silent SNP C C T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr19:16345234C>T ENST00000291439.3 + 12 1709 c.1260C>T c.(1258-1260)ctC>ctT p.L420L AP1M1_ENST00000541844.1_Silent_p.L348L|AP1M1_ENST00000444449.2_Silent_p.L432L|AP1M1_ENST00000429941.2_Silent_p.L367L|AP1M1_ENST00000590756.1_Silent_p.L348L NM_032493.3 NP_115882.1 Q9BXS5 AP1M1_HUMAN adaptor-related protein complex 1, mu 1 subunit 420 MHD. cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|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 protein binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2) 21 ATTACCAGCTCCGGACCCAGT 0.687000 12 38 0 0 0.00185496 0 0 NPAP1 23742 broad.mit.edu 37 15 24924253 24924253 + Missense_Mutation SNP G G A TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr15:24924253G>A ENST00000329468.2 + 1 3713 c.3239G>A c.(3238-3240)gGa>gAa p.G1080E NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CCTGTATTTGGATATACTTCT 0.537000 17 79 0 0 0.00121646 0 0 NUTM2B-AS1 101060691 broad.mit.edu 37 10 81443087 81443087 + RNA SNP C C A TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr10:81443087C>A ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA ATGGCATCTCCCACAAGGTCA 0.587000 5 66 7.48243e-07 5.75212e-06 0.000442599 1 0 SF3B1 23451 broad.mit.edu 37 2 198267483 198267483 + Missense_Mutation SNP C C T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr2:198267483C>T ENST00000335508.5 - 14 1965 c.1874G>A c.(1873-1875)cGt>cAt p.R625H NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 625 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding p.R625L(9)|p.R625P(2)|p.R625H(1) NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) TGTTGTGTTACGGACATACTC 0.438000 Mis myelodysplastic syndrome 9 26 0 0 0.000274275 0 0 MTOR 2475 broad.mit.edu 37 1 11272938 11272938 + Missense_Mutation SNP C C T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr1:11272938C>T ENST00000361445.4 - 22 3389 c.3313G>A c.(3313-3315)Gcc>Acc p.A1105T NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 1105 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 p.A1105T(1) 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 TCCAGGTTGGCGCCAAACAGC 0.512000 13 42 0 0 0.00136819 0 0 RARS 5917 broad.mit.edu 37 5 167943886 167943886 + Missense_Mutation SNP C C T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr5:167943886C>T ENST00000231572.3 + 13 1610 c.1556C>T c.(1555-1557)tCc>tTc p.S519F RARS_ENST00000538719.1_Missense_Mutation_p.S313F NM_002887.3 NP_002878.2 P54136 SYRC_HUMAN arginyl-tRNA synthetase 519 arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1) 22 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) TACATCTTCTCCTTTGACAAA 0.413000 31 76 0 0 0.0024448 0 0 SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 2 4 --- --- --- --- GJD4 219770 broad.mit.edu 37 10 35897462 35897462 + Frame_Shift_Del DEL C C - TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr10:35897462delC ENST00000321660.1 + 2 1179 c.1021delC c.(1021-1023)ccfs p.P342fs NM_153368.2 NP_699199.2 Q96KN9 CXD4_HUMAN gap junction protein, delta 4, 40.1kDa 342 cell communication connexon complex|integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 CCTGGCCGCGCCCCCTTCCTG 0.706 2 4 --- --- --- --- GLYAT 10249 broad.mit.edu 37 11 58480294 58480295 + Frame_Shift_Ins INS - - T rs142339923 byFrequency TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr11:58480294_58480295insT ENST00000344743.3 - 4 395_396 c.254_255insA c.(253-255)atgfs p.M85fs GLYAT_ENST00000278400.3_Frame_Shift_Ins_p.M85fs|GLYAT_ENST00000529732.1_Frame_Shift_Ins_p.M85fs NM_201648.2 NP_964011.2 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase 85 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) ATTCCTGACAGTTTTGGGGATC 0.381 2 4 --- --- --- ---