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 ZC4H2 55906 broad.mit.edu 37 X 64139085 64139085 + Splice_Site SNP C C A TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chrX:64139085C>A ENST00000545618.1 - 5 947 c.e5-1 ZC4H2_ENST00000447788.2_Intron|ZC4H2_ENST00000337990.2_Splice_Site|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000374839.3_Splice_Site Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing metal ion binding|protein binding endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 CTCAAAGTAACTTTGGAGATG 0.532000 21 49 7.87624e-14 8.0221e-14 1 1 0 BLK 640 broad.mit.edu 37 8 11400849 11400849 + Missense_Mutation SNP C C T rs142352008 byFrequency TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr8:11400849C>T ENST00000259089.4 + 2 708 c.116C>T c.(115-117)cCg>cTg p.P39L BLK_ENST00000529894.1_Intron NM_001715.2 NP_001706.2 P51451 BLK_HUMAN B lymphoid tyrosine kinase 39 intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) CCGCCACTGCCGCCCCTGGTG 0.532000 17 17 0 0 1 0 0 URB2 9816 broad.mit.edu 37 1 229772950 229772950 + Missense_Mutation SNP A A G TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr1:229772950A>G ENST00000258243.2 + 4 2726 c.2590A>G c.(2590-2592)Ata>Gta p.I864V NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 864 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 ACCCGAAGGTATAGAACCTAG 0.502000 39 70 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154395557 154395557 + Missense_Mutation SNP G G A TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr5:154395557G>A ENST00000435029.4 + 1 2298 c.2138G>A c.(2137-2139)cGa>cAa p.R713Q NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 713 Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity p.G748V(2) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GCCAACAAGCGACTCAAGGAT 0.483000 28 72 0 0 1 0 0 ZNF645 158506 broad.mit.edu 37 X 22291550 22291550 + Missense_Mutation SNP G G A TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chrX:22291550G>A ENST00000323684.1 + 1 486 c.442G>A c.(442-444)Gct>Act p.A148T NM_152577.3 NP_689790.1 Q8N7E2 ZN645_HUMAN zinc finger protein 645 148 intracellular zinc ion binding cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 27 AGTTACCAGCGCTTCGCTTGA 0.438000 39 55 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158612230 158612230 + Missense_Mutation SNP C C T TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr1:158612230C>T ENST00000368148.3 - 33 4888 c.4708G>A c.(4708-4710)Gct>Act p.A1570T SPTA1_ENST00000368147.3_Missense_Mutation_p.A1570T NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1570 Missing (in Ref. 1; AAA60577/AAA60994 and 7; AAA60569). actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CCATCACAAGCGCTACACTCA 0.453000 21 75 0 0 1 0 0 CUL4B 8450 broad.mit.edu 37 X 119669687 119669687 + Missense_Mutation SNP C C G TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chrX:119669687C>G ENST00000371322.5 - 16 2219 c.2158G>C c.(2158-2160)Gag>Cag p.E720Q CUL4B_ENST00000336592.6_Missense_Mutation_p.E725Q|CUL4B_ENST00000404115.3_Missense_Mutation_p.E738Q NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 738 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding p.E720Q(1)|p.E738Q(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CCACTTACCTCTTTAAATTCT 0.353000 44 119 0 0 1 0 0 STK36 27148 broad.mit.edu 37 2 219544418 219544418 + Missense_Mutation SNP C C T TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr2:219544418C>T ENST00000295709.3 + 8 1193 c.914C>T c.(913-915)gCc>gTc p.A305V STK36_ENST00000440309.1_Missense_Mutation_p.A305V|STK36_ENST00000392106.2_Missense_Mutation_p.A305V|STK36_ENST00000392105.3_Missense_Mutation_p.A305V NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 305 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) TTGACTCAGGCCTATAAACGC 0.557000 19 48 0 0 1 0 0 ARHGAP6 395 broad.mit.edu 37 X 11174686 11174686 + Missense_Mutation SNP C C T TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chrX:11174686C>T ENST00000337414.4 - 10 2742 c.1870G>A c.(1870-1872)Gtg>Atg p.V624M ARHGAP6_ENST00000534860.1_Missense_Mutation_p.V449M|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.V421M|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.V624M|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.V433M|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.V656M|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.V421M NM_013427.2 NP_038286.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 624 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 AAATAGTCCACGACATCAGGA 0.443000 11 23 0 0 1 0 0 CDYL2 124359 broad.mit.edu 37 16 80718589 80718589 + Silent SNP G G A rs140729164 TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr16:80718589G>A ENST00000299564.8 - 2 617 c.462C>T c.(460-462)aaC>aaT p.N154N CDYL2_ENST00000563890.1_Silent_p.N154N|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000562812.1_Silent_p.N154N|CDYL2_ENST00000566173.1_Silent_p.N154N NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 154 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 TTTCCATCCCGTTCTGAGACT 0.532000 23 73 0 0 1 0 0 CRY2 1408 broad.mit.edu 37 11 45891723 45891723 + Silent SNP C C T TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr11:45891723C>T ENST00000443527.2 + 8 1399 c.1377C>T c.(1375-1377)ggC>ggT p.G459G CRY2_ENST00000417225.2_Silent_p.G377G NM_021117.3 NP_066940.2 Q49AN0 CRY2_HUMAN cryptochrome 2 (photolyase-like) 438 FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity). DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding p.G438G(1) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2) 15 TGGGCTTTGGCCGTCGCACGG 0.587000 4 101 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20618726 20618726 + Silent SNP G G A TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr4:20618726G>A ENST00000504154.1 + 35 4293 c.4041G>A c.(4039-4041)caG>caA p.Q1347Q SLIT2_ENST00000503837.1_Silent_p.Q1343Q|SLIT2_ENST00000503823.1_Silent_p.Q1339Q|SLIT2_ENST00000273739.5_Silent_p.Q1360Q NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1347 EGF-like 7. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GCACATGCCAGCCCAGCAGCC 0.577000 7 72 0 0 1 0 0 CDC7 8317 broad.mit.edu 37 1 91967356 91967356 + Nonsense_Mutation SNP T T A TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr1:91967356T>A ENST00000428239.1 + 2 342 c.83T>A c.(82-84)tTa>tAa p.L28* CDC7_ENST00000234626.6_Nonsense_Mutation_p.L28*|CDC7_ENST00000430031.2_Nonsense_Mutation_p.L28*|CDC7_ENST00000497611.1_3'UTR NM_001134420.1 NP_001127892.1 O00311 CDC7_HUMAN cell division cycle 7 28 cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2) 23 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) GAAGGCTCTTTAAAAAAAAAC 0.403000 4 54 0 0 1 0 0 GOLGA6L5 0 broad.mit.edu 37 15 85053124 85053124 + RNA SNP G G T TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr15:85053124G>T ENST00000414190.2 - 0 328 NR_003246.2 TAAATGTTTTGTTTTTTTTTT 0.353000 4 9 0.184627 0.184627 1 1 0 OR4X1 390113 broad.mit.edu 37 11 48285528 48285528 + Missense_Mutation SNP G G A TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr11:48285528G>A ENST00000320048.1 + 1 116 c.116G>A c.(115-117)gGc>gAc p.G39D NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 GTTGTGCTGGGCAATGGCCTC 0.463000 11 30 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126373545 126373545 + Missense_Mutation SNP C C T TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr4:126373545C>T ENST00000394329.3 + 9 11387 c.11374C>T c.(11374-11376)Cgg>Tgg p.R3792W FAT4_ENST00000335110.5_Missense_Mutation_p.R2090W NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3792 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GATCCTTCTCCGGCAGAGTGG 0.483000 18 55 0 0 1 0 0 TMEM164 84187 broad.mit.edu 37 X 109416566 109416566 + Missense_Mutation SNP A A C TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chrX:109416566A>C ENST00000372073.1 + 7 1117 c.781A>C c.(781-783)Act>Cct p.T261P TMEM164_ENST00000372068.2_Missense_Mutation_p.T261P|TMEM164_ENST00000372072.3_Missense_Mutation_p.T112P|TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000288381.4_Missense_Mutation_p.T222P Q5U3C3 TM164_HUMAN transmembrane protein 164 261 integral to membrane cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1) 14 GGGACACCAGACTCTCATGAC 0.552000 28 68 0 0 1 0 0 INTS3 65123 broad.mit.edu 37 1 153730172 153730172 + Missense_Mutation SNP A A G TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr1:153730172A>G ENST00000456435.1 + 10 1650 c.464A>G c.(463-465)aAt>aGt p.N155S INTS3_ENST00000318967.2_Missense_Mutation_p.N361S|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.N361S|INTS3_ENST00000512605.1_Missense_Mutation_p.N155S Q68E01 INT3_HUMAN integrator complex subunit 3 362 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CACCCTTCTAATGAAGTACTG 0.527000 7 90 0 0 1 0 0 CDC73 79577 broad.mit.edu 37 1 193111017 193111017 + Missense_Mutation SNP G G C TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr1:193111017G>C ENST00000367435.3 + 7 734 c.550G>C c.(550-552)Gca>Cca p.A184P NM_024529.4 NP_078805.3 Q6P1J9 CDC73_HUMAN cell division cycle 73 184 AIKA -> CNQT (in Ref. 2; BAB15608). cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1) 87 AAAAATTGCTGCAATCAAAGC 0.348000 8 11 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 19 37 0 0 1 0 0 CLIP2 7461 broad.mit.edu 37 7 73770855 73770855 + Missense_Mutation SNP G G A TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr7:73770855G>A ENST00000223398.6 + 5 1246 c.919G>A c.(919-921)Ggt>Agt p.G307S CLIP2_ENST00000361545.5_Missense_Mutation_p.G307S|CLIP2_ENST00000395060.1_Missense_Mutation_p.G307S NM_003388.4 NP_003379.3 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 307 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 TATGGCCATGGGTGTGTCAGC 0.617000 26 66 0 0 1 0 0 CD96 0 broad.mit.edu 37 3 111319659 111319659 + Missense_Mutation SNP C C T TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr3:111319659C>T ENST00000352690.4 + 7 1225 c.985C>T c.(985-987)Cca>Tca p.P329S CD96_ENST00000438817.2_Missense_Mutation_p.P329S|CD96_ENST00000283285.5_Missense_Mutation_p.P345S NM_005816.4 NP_005807.1 P40200 TACT_HUMAN CD96 molecule 345 Ig-like C2-type. cell adhesion|immune response|regulation of immune response integral to plasma membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 TAGTAATAAACCAGCCCAATC 0.378000 Opitz Trigonocephaly syndrome 18 42 0 0 1 0 0 PPM1L 151742 broad.mit.edu 37 3 160786805 160786805 + Nonsense_Mutation SNP C C T TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr3:160786805C>T ENST00000498165.1 + 4 1044 c.943C>T c.(943-945)Cga>Tga p.R315* PPM1L_ENST00000464260.1_Nonsense_Mutation_p.R136*|PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000295839.9_Nonsense_Mutation_p.R188* NM_139245.2 NP_640338.2 Q5SGD2 PPM1L_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1L 315 PP2C-like. protein dephosphorylation|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity p.R315*(2)|p.R136*(2) breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) AGAAGCAGTTCGATTCATCAA 0.473000 4 96 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56515295 56515295 + Silent SNP C C T TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr19:56515295C>T ENST00000390649.3 + 2 276 c.276C>T c.(274-276)acC>acT p.T92T NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 92 DAPIN. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CAGAATCGACCACATGCTCTA 0.453000 17 18 0 0 1 0 0 GPR34 2857 broad.mit.edu 37 X 41555137 41555137 + Missense_Mutation SNP G G A TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chrX:41555137G>A ENST00000378142.4 + 3 535 c.251G>A c.(250-252)cGt>cAt p.R84H CASK_ENST00000421587.2_Intron|CASK_ENST00000318588.9_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.R84H|CASK_ENST00000378154.1_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000361962.4_Intron NM_001097579.1|NM_005300.3 NP_001091048.1|NP_005291.1 Q9UPC5 GPR34_HUMAN G protein-coupled receptor 34 84 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.R84H(1) breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 14 GGTATTCACCGTAAAAGAAAT 0.383000 4 126 0 0 1 0 0 ARMC9 80210 broad.mit.edu 37 2 232135764 232135764 + Missense_Mutation SNP G G C TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr2:232135764G>C ENST00000349938.4 + 13 1383 c.1189G>C c.(1189-1191)Gct>Cct p.A397P ARMC9_ENST00000483477.1_3'UTR NM_001271466.1|NM_025139.3 NP_001258395.1|NP_079415.3 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 397 binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) GCTCATCAATGCTTTTGCGTC 0.493000 12 33 0 0 1 0 0 MRM1 79922 broad.mit.edu 37 17 34958397 34958397 + Missense_Mutation SNP T T C TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr17:34958397T>C ENST00000250156.7 + 1 397 c.158T>C c.(157-159)tTt>tCt p.F53S MRM1_ENST00000585770.1_5'UTR NM_024864.3 NP_079140.2 Q6IN84 MRM1_HUMAN mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) 53 RNA processing mitochondrion RNA binding|RNA methyltransferase activity NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) GAGCTTCTGTTTGGCATGACC 0.692000 45 102 0 0 1 0 0 GRPR 2925 broad.mit.edu 37 X 16142351 16142351 + Missense_Mutation SNP C C T TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chrX:16142351C>T ENST00000380289.2 + 1 673 c.275C>T c.(274-276)aCg>aTg p.T92M NM_005314.2 NP_005305.1 P30550 GRPR_HUMAN gastrin-releasing peptide receptor 92 cell proliferation integral to plasma membrane bombesin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3) 25 Hepatocellular(33;0.183) CTCCTAATAACGTGTGCTCCA 0.488000 OREG0019682 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 54 98 0 0 1 0 0 API5 8539 broad.mit.edu 37 11 43343605 43343605 + Silent SNP C C T TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr11:43343605C>T ENST00000378852.3 + 5 587 c.462C>T c.(460-462)ttC>ttT p.F154F API5_ENST00000455725.2_Silent_p.F143F|API5_ENST00000534695.1_Intron|API5_ENST00000534600.1_Silent_p.F154F|API5_ENST00000420461.2_Silent_p.F100F|API5_ENST00000531273.1_Silent_p.F154F NM_001142930.1|NM_006595.3 NP_001136402.1|NP_006586.1 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 154 anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 CAATTAAATTCCTTTCTACAA 0.378000 20 46 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803552 142803552 + RNA SNP T T A rs141013493 by1000genomes TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr1:142803552T>A ENST00000423385.1 - 0 1413 TCCTGATGAATCTGCAGTCAG 0.269000 6 147 0 0 1 0 0 DLG3 1741 broad.mit.edu 37 X 69669655 69669655 + Nonsense_Mutation SNP C C T TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chrX:69669655C>T ENST00000194900.4 + 5 1044 c.703C>T c.(703-705)Cga>Tga p.R235* DLG3_ENST00000374360.3_Nonsense_Mutation_p.R217* Q92796 DLG3_HUMAN discs, large homolog 3 (Drosophila) 217 PDZ 2. axon guidance|negative regulation of cell proliferation|synaptic transmission plasma membrane guanylate kinase activity endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1) 22 Renal(35;0.156) GGTGCGGAGGCGACAGCCTCC 0.662000 8 16 0 0 1 0 0 SYNM 23336 broad.mit.edu 37 15 99673043 99673043 + Missense_Mutation SNP C C T TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr15:99673043C>T ENST00000336292.6 + 5 4595 c.4475C>T c.(4474-4476)gCg>gTg p.A1492V SYNM_ENST00000560674.1_Missense_Mutation_p.A895V|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Missense_Mutation_p.A1180V NM_145728.2 NP_663780.2 O15061 SYNEM_HUMAN synemin, intermediate filament protein 1493 Interaction with DMD and UTRN.|Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 29 TGGAGAGACGCGGACAGTAGG 0.572000 4 125 0 0 1 0 0 CSAG1 158511 broad.mit.edu 37 X 151908875 151908875 + Missense_Mutation SNP G G C TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chrX:151908875G>C ENST00000370291.2 + 4 394 c.114G>C c.(112-114)agG>agC p.R38S CSAG1_ENST00000452779.2_Missense_Mutation_p.R38S|CSAG1_ENST00000370287.3_Missense_Mutation_p.R38S Q6PB30 CSAG1_HUMAN chondrosarcoma associated gene 1 38 central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) AGATGTCCAGGAAACCACGAG 0.572000 21 359 0 0 1 0 0 POSTN 10631 broad.mit.edu 37 13 38171320 38171320 + Splice_Site SNP C C T TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr13:38171320C>T ENST00000379747.4 - 2 336 c.e2+1 POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000541179.1_Splice_Site NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) AAGAGACTTACGTTTTCTGTC 0.378000 10 13 0 0 1 0 0 GPRC6A 0 broad.mit.edu 37 6 117130562 117130562 + Missense_Mutation SNP G G A TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr6:117130562G>A ENST00000310357.3 - 2 434 c.413C>T c.(412-414)cCa>cTa p.P138L GPRC6A_ENST00000368549.3_Missense_Mutation_p.P138L|GPRC6A_ENST00000530250.1_Missense_Mutation_p.P138L NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 138 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) CTTAACTCTTGGCATGTAGCT 0.443000 13 37 0 0 1 0 0 TERT 0 broad.mit.edu 37 5 1294250 1294250 + Missense_Mutation SNP C C T TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr5:1294250C>T ENST00000310581.5 - 2 808 c.751G>A c.(751-753)Gtt>Att p.V251I TERT_ENST00000334602.6_Missense_Mutation_p.V251I|TERT_ENST00000296820.5_Missense_Mutation_p.V251I|TERT_ENST00000508104.2_Missense_Mutation_p.V251I NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 251 Linker. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CCCTGCCCAACGGGCGTCCGC 0.726000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 6 8 0 0 1 0 0 SLC52A2 79581 broad.mit.edu 37 8 145584537 145584537 + Missense_Mutation SNP G G C TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr8:145584537G>C ENST00000526752.1 + 2 316 c.205G>C c.(205-207)Ggg>Cgg p.G69R SLC52A2_ENST00000527078.1_Silent_p.G400G|SLC52A2_ENST00000540505.1_Silent_p.G312G|SLC52A2_ENST00000329994.2_Silent_p.G400G|SLC52A2_ENST00000530047.1_Silent_p.G400G|SLC52A2_ENST00000532887.1_Silent_p.G400G|SLC52A2_ENST00000402965.1_Silent_p.G400G Q9HAB3 RFT3_HUMAN solute carrier family 52 (riboflavin transporter), member 2 0 integral to plasma membrane receptor activity|riboflavin transporter activity TGCATGGCGGGGGCCGGCCGG 0.657000 9 102 0 0 1 0 0 SSH1 54434 broad.mit.edu 37 12 109183011 109183011 + Missense_Mutation SNP T T C TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr12:109183011T>C ENST00000326495.5 - 15 1996 c.1903A>G c.(1903-1905)Ata>Gta p.I635V SSH1_ENST00000360239.3_Missense_Mutation_p.I323V NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 635 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 ATCCCAAATATAGCATCATCC 0.547000 4 12 0 0 1 0 0 GRIPAP1 56850 broad.mit.edu 37 X 48830666 48830666 + Missense_Mutation SNP C C T TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chrX:48830666C>T ENST00000376441.1 - 26 2499 c.2465G>A c.(2464-2466)cGg>cAg p.R822Q GRIPAP1_ENST00000376425.3_Missense_Mutation_p.R791Q|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.R777Q NM_020137.3 NP_064522.3 Q4V328 GRAP1_HUMAN GRIP1 associated protein 1 822 early endosome p.R465Q(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2) 10 CTTGCTGAGCCGCACAATTTC 0.567000 9 24 0 0 1 0 0 CBLC 23624 broad.mit.edu 37 19 45284225 45284225 + Silent SNP C C T TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr19:45284225C>T ENST00000270279.3 + 2 480 c.417C>T c.(415-417)ttC>ttT p.F139F CBLC_ENST00000341505.4_Silent_p.F139F NM_012116.3 NP_036248.3 Q9ULV8 CBLC_HUMAN Cbl proto-oncogene C, E3 ubiquitin protein ligase 139 4H.|Cbl-PTB. cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung NSC(12;0.00136)|all_lung(12;0.00371) Ovarian(192;0.231) ACGCACTCTTCCCCGGGGGAA 0.617000 M AML 28 31 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76873968 76873968 + Missense_Mutation SNP A A G TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr11:76873968A>G ENST00000409709.3 + 14 1896 c.1624A>G c.(1624-1626)Aag>Gag p.K542E MYO7A_ENST00000409619.2_Missense_Mutation_p.K531E|MYO7A_ENST00000458637.2_Missense_Mutation_p.K542E|MYO7A_ENST00000409893.1_Missense_Mutation_p.K542E NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 542 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CATCCCCCCCAAGAACAACCA 0.567000 97 156 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186106054 186106054 + Missense_Mutation SNP C C T TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr1:186106054C>T ENST00000271588.4 + 87 13796 c.13567C>T c.(13567-13569)Cca>Tca p.P4523S HMCN1_ENST00000367492.2_Missense_Mutation_p.P4523S NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4523 Ig-like C2-type 44. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TGTCAGAGTGCCAGTCATAGT 0.398000 4 122 0 0 1 0 0 ATP8A1 10396 broad.mit.edu 37 4 42414962 42414962 + Missense_Mutation SNP T T C TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr4:42414962T>C ENST00000381668.5 - 37 3697 c.3466A>G c.(3466-3468)Acc>Gcc p.T1156A ATP8A1_ENST00000264449.10_Missense_Mutation_p.T1141A NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 1156 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) TGTTTCGTGGTATCATATGCT 0.463000 10 38 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4944606 4944606 + Missense_Mutation SNP C C T TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr16:4944606C>T ENST00000345988.2 - 12 1345 c.1256G>A c.(1255-1257)cGg>cAg p.R419Q PPL_ENST00000590782.2_Missense_Mutation_p.R417Q NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 419 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 GCTGTAGCCCCGCGAGATCAG 0.647000 18 45 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16174599 16174599 + Frame_Shift_Del DEL T T - TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr1:16174599delT ENST00000375759.3 + 1 241 c.37delT c.(37-39)tafs p.L13fs RP11-169K16.9_ENST00000317122.1_RNA NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 13 RRM 1. 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) GGTGGGCAACTTACCCGAGAA 0.687 2 4 --- --- --- --- FUBP1 8880 broad.mit.edu 37 1 78444597 78444597 + Frame_Shift_Del DEL A A - TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr1:78444597delA ENST00000370767.1 - 1 179 c.92delT c.(91-93)tcfs p.F31fs FUBP1_ENST00000436586.2_Frame_Shift_Del_p.F31fs|FUBP1_ENST00000370768.2_Frame_Shift_Del_p.F31fs Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 31 transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 TGCATCTTTGAAAGCGTCGTT 0.612 """F, N""" oligodendroglioma 77 72 --- --- --- --- SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 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 4 6 --- --- --- --- CTD-2008A1.2 0 broad.mit.edu 37 15 45123910 45123910 + RNA DEL A A - TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr15:45123910delA ENST00000561384.2 - 0 726 ATCTGAAGGTAAAAAAAAAAA 0.418 4 4 --- --- --- --- hsa-mir-6080 0 broad.mit.edu 37 17 62750914 62750914 + RNA DEL T T - TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chr17:62750914delT ENST00000400873.3 - 0 1841 NR_026899.1 CTGATTATGCttttttttttg 0.433 2 4 --- --- --- --- PLXNA3 55558 broad.mit.edu 37 X 153688564 153688565 + Frame_Shift_Ins INS - - G TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb574e00-e564-4dda-972c-dc25f4b07540 c83749e7-fee4-46ed-8263-ae642aee2429 g.chrX:153688564_153688565insG ENST00000369682.3 + 2 216_217 c.41_42insG c.(40-42)gggfs p.G14fs NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 14 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity p.A17fs*39(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 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) TTCCTTGCCGTGGGGGGGGCCC 0.683 8 94 --- --- --- ---