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 MUC2 4583 broad.mit.edu 37 11 1092920 1092920 + Missense_Mutation SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr11:1092920C>A ENST00000441003.2 + 30 4766 c.4739C>A c.(4738-4740)aCc>aAc p.T1580N MUC2_ENST00000359061.5_Missense_Mutation_p.T1581N|MUC2_ENST00000361558.6_Intron NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1583 Approximate repeats. inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) ggcacacagaccccaacatcg 0.632000 5 44 0.217242 0.217242 1 1 0 MEGF8 1954 broad.mit.edu 37 19 42880156 42880156 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:42880156C>T ENST00000334370.4 + 41 8201 c.7566C>T c.(7564-7566)gtC>gtT p.V2522V MEGF8_ENST00000378073.4_Silent_p.V183V|MEGF8_ENST00000251268.6_Silent_p.V2589V NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2589 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) TGCTGGTGGTCCGCGGCGTGC 0.692000 87 149 0 0 1 0 0 KSR1 8844 broad.mit.edu 37 17 25932610 25932610 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr17:25932610G>C ENST00000398988.3 + 16 1865 c.1420G>C c.(1420-1422)Gag>Cag p.E474Q KSR1_ENST00000319524.6_Missense_Mutation_p.E611Q|KSR1_ENST00000509603.2_Missense_Mutation_p.E589Q|KSR1_ENST00000268763.6_Missense_Mutation_p.E474Q NM_014238.1 NP_055053.1 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 609 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) CATCCCCTTCGAGCAGGTAGA 0.711000 3 10 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73843246 73843246 + Silent SNP C C T rs139916334 TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr6:73843246C>T ENST00000342056.2 + 11 1805 c.1407C>T c.(1405-1407)acC>acT p.T469T KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000403813.2_Silent_p.T441T|KCNQ5_ENST00000370398.1_Silent_p.T450T|KCNQ5_ENST00000402622.2_Silent_p.T460T|KCNQ5_ENST00000355635.3_Silent_p.T451T|KCNQ5_ENST00000355194.4_Silent_p.T450T NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 450 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) CCCCAAGCACCGACATCACAG 0.587000 47 56 0 0 1 0 0 PAPSS2 9060 broad.mit.edu 37 10 89504908 89504908 + Silent SNP C C T rs7918595 TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr10:89504908C>T ENST00000361175.4 + 11 1995 c.1626C>T c.(1624-1626)ctC>ctT p.L542L PAPSS2_ENST00000456849.1_Silent_p.L547L|PAPSS2_ENST00000427144.2_Silent_p.L546L NM_004670.3 NP_004661.2 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 542 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 20 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) CCCCTGGCCTCACCTCTGTGG 0.512000 16 4 0 0 1 0 0 NR4A3 8013 broad.mit.edu 37 9 102590767 102590767 + Missense_Mutation SNP T T C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr9:102590767T>C ENST00000330847.1 + 2 520 c.476T>C c.(475-477)tTc>tCc p.F159S NR4A3_ENST00000338488.4_Missense_Mutation_p.F148S|NR4A3_ENST00000395097.2_Missense_Mutation_p.F148S Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 148 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding p.Q162fs*89(1) TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) ACGCCGGCCTTCCCCCCGCAG 0.721000 T EWSR1 extraskeletal myxoid chondrosarcoma 4 91 0 0 1 0 0 DFNA5 1687 broad.mit.edu 37 7 24749946 24749946 + Silent SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:24749946G>C ENST00000545231.1 - 8 1417 c.267C>G c.(265-267)gtC>gtG p.V89V DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000342947.3_Silent_p.V253V|DFNA5_ENST00000419307.1_Silent_p.V89V|DFNA5_ENST00000409775.3_Silent_p.V253V|DFNA5_ENST00000409970.1_Silent_p.V89V O60443 DFNA5_HUMAN deafness, autosomal dominant 5 253 sensory perception of sound endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1) 19 GGTCCAGGTAGACAGAGTCAA 0.473000 14 61 0 0 1 0 0 ALS2CR11 151254 broad.mit.edu 37 2 202400897 202400897 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:202400897C>T ENST00000439140.1 - 13 1397 c.1353G>A c.(1351-1353)caG>caA p.Q451Q ALS2CR11_ENST00000286195.3_Silent_p.Q451Q|ALS2CR11_ENST00000450242.1_Silent_p.Q451Q|ALS2CR11_ENST00000439802.1_Intron NM_001168221.1 NP_001161693.1 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 451 NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3) 33 TTATTGTTTCCTGGTTAGAAA 0.373000 8 55 0 0 1 0 0 GPR97 222487 broad.mit.edu 37 16 57714456 57714456 + Missense_Mutation SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr16:57714456C>A ENST00000333493.4 + 8 969 c.808C>A c.(808-810)Cgc>Agc p.R270S GPR97_ENST00000327655.6_Missense_Mutation_p.R60S|GPR97_ENST00000450388.3_Missense_Mutation_p.R150S NM_170776.4 NP_740746.4 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 270 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.R270C(1) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TATCCTCACACGCATCTCCCA 0.577000 31 86 1.96642e-18 2.08932e-18 1 1 0 NUP155 9631 broad.mit.edu 37 5 37292081 37292081 + Missense_Mutation SNP G G C rs140076285 byFrequency TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:37292081G>C ENST00000231498.3 - 35 4300 c.4097C>G c.(4096-4098)tCt>tGt p.S1366C NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000513532.1_Missense_Mutation_p.S1302C|NUP155_ENST00000381843.2_Missense_Mutation_p.S1307C NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 1366 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CGAGCTCATAGACTGGAGCTC 0.363000 18 47 0 0 1 0 0 GOLGA5 9950 broad.mit.edu 37 14 93299516 93299516 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr14:93299516G>A ENST00000163416.2 + 10 2025 c.1769G>A c.(1768-1770)cGa>cAa p.R590Q GOLGA5_ENST00000355976.2_Missense_Mutation_p.R590Q NM_005113.2 NP_005104 Q8TBA6 GOGA5_HUMAN golgin A5 590 Golgi organization cis-Golgi network|integral to membrane ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding large_intestine(6)|lung(1)|ovary(2) 9 all_cancers(154;0.0934) COAD - Colon adenocarcinoma(157;0.222) TTAGAAAATCGACTCCATCAG 0.403000 T RET papillary thyroid 12 38 0 0 1 0 0 SRRT 51593 broad.mit.edu 37 7 100483362 100483362 + Nonsense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:100483362C>G ENST00000388793.4 + 11 1575 c.1355C>G c.(1354-1356)tCa>tGa p.S452* SRRT_ENST00000347433.4_Nonsense_Mutation_p.S453*|SRRT_ENST00000457580.2_Nonsense_Mutation_p.S453*|SRRT_ENST00000432932.1_Nonsense_Mutation_p.S452* NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 453 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 GTGGCGCTCTCAGAGCCCCAG 0.537000 5 21 0 0 1 0 0 PFKFB3 5209 broad.mit.edu 37 10 6261552 6261552 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr10:6261552G>A ENST00000536985.1 + 7 589 c.509G>A c.(508-510)cGg>cAg p.R170Q PFKFB3_ENST00000317350.4_Silent_p.P173P|PFKFB3_ENST00000379775.4_Silent_p.P173P|PFKFB3_ENST00000379785.1_Silent_p.P173P|PFKFB3_ENST00000540253.1_Silent_p.P187P|PFKFB3_ENST00000360521.2_Silent_p.P173P|PFKFB3_ENST00000379782.3_Silent_p.P173P|PFKFB3_ENST00000379789.4_Silent_p.P153P Q16875 F263_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 0 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding p.P173P(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1) 22 TCTCCAGCCCGGATTACAAAG 0.507000 5 110 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43991401 43991401 + Missense_Mutation SNP T T C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:43991401T>C ENST00000282406.4 + 29 4303 c.4193T>C c.(4192-4194)aTg>aCg p.M1398T NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 1398 FERM. cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AAGAGTCTAATGACCTTTGGA 0.328000 16 19 0 0 1 0 0 MANEA 79694 broad.mit.edu 37 6 96054015 96054015 + Missense_Mutation SNP A A G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr6:96054015A>G ENST00000358812.4 + 5 1257 c.1123A>G c.(1123-1125)Aac>Gac p.N375D NM_024641.3 NP_078917.2 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 375 Catalytic (Probable). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) AAACACTCGGAACCGAATCAA 0.413000 47 39 0 0 1 0 0 KCNK13 56659 broad.mit.edu 37 14 90650738 90650738 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr14:90650738C>T ENST00000282146.4 + 2 1059 c.618C>T c.(616-618)atC>atT p.I206I NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 206 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) CAGCCTCCATCCTCATCTCTT 0.562000 34 162 0 0 1 0 0 AFMID 125061 broad.mit.edu 37 17 76201688 76201688 + Missense_Mutation SNP G G T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr17:76201688G>T ENST00000409257.5 + 9 703 c.649G>T c.(649-651)Gac>Tac p.D217Y AFMID_ENST00000589664.1_Intron|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000588800.1_Intron|AFMID_ENST00000327898.5_Missense_Mutation_p.D217Y NM_001010982.4|NM_001145526.2 NP_001010982.2|NP_001138998.1 Q63HM1 AFMID_HUMAN arylformamidase 217 cytosol|nucleus arylformamidase activity autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1) 19 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134) CCCCAGGGAGGACGCTCAGAG 0.672000 19 57 4.63292e-17 4.89191e-17 1 1 0 ADCY10 55811 broad.mit.edu 37 1 167792259 167792259 + Silent SNP G G T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:167792259G>T ENST00000367848.1 - 29 4376 c.3879C>A c.(3877-3879)atC>atA p.I1293I ADCY10_ENST00000545172.1_Silent_p.I1232I|ADCY10_ENST00000367851.4_Silent_p.I1385I Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 1385 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 AATAAAGCAGGATGTCCAAGC 0.502000 16 39 1.33834e-09 1.3873e-09 1 1 0 RYR3 6263 broad.mit.edu 37 15 33936718 33936718 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:33936718G>C ENST00000389232.4 + 28 3833 c.3763G>C c.(3763-3765)Gag>Cag p.E1255Q RYR3_ENST00000415757.3_Missense_Mutation_p.E1255Q NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1255 4 X approximate repeats.|B30.2/SPRY 3. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCCACACATAGAGGTAATGTT 0.512000 6 13 0 0 1 0 0 C16orf82 162083 broad.mit.edu 37 16 27078256 27078256 + RNA SNP A A T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr16:27078256A>T ENST00000505035.1 + 0 229 RP11-673P17.2_ENST00000565783.1_RNA Q7Z2V1 TNT_HUMAN TTATATACGGAGTCACCTCTC 0.577000 18 22 0 0 1 0 0 ATP6V1B1 525 broad.mit.edu 37 2 71187068 71187068 + Splice_Site SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:71187068G>A ENST00000234396.4 + 6 518 c.e6-1 ATP6V1B1_ENST00000412314.1_Splice_Site|AC007040.11_ENST00000606025.1_Intron NM_001692.3 NP_001683.2 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1) 19 CCCTCTCCCAGGCCAGCCCAT 0.597000 30 103 0 0 1 0 0 PI15 51050 broad.mit.edu 37 8 75737599 75737599 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr8:75737599G>A ENST00000260113.2 + 2 294 c.115G>A c.(115-117)Gat>Aat p.D39N PI15_ENST00000523773.1_Missense_Mutation_p.D39N|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA NM_015886.3 NP_056970.1 O43692 PI15_HUMAN peptidase inhibitor 15 39 extracellular region peptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1) 30 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) TAATTTCACTGATATTGAAGC 0.488000 50 50 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71494257 71494257 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:71494257C>G ENST00000296755.7 + 5 5373 c.5075C>G c.(5074-5076)tCt>tGt p.S1692C NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1692 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) TACAGTCCTTCTGACATGCAG 0.488000 33 16 0 0 1 0 0 IL10RA 3587 broad.mit.edu 37 11 117869673 117869673 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr11:117869673G>A ENST00000227752.3 + 7 1174 c.1054G>A c.(1054-1056)Gag>Aag p.E352K IL10RA_ENST00000545409.1_Missense_Mutation_p.E203K|IL10RA_ENST00000541785.1_Missense_Mutation_p.E332K|IL10RA_ENST00000533700.1_3'UTR NM_001558.3 NP_001549.2 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha 352 integral to membrane|plasma membrane interleukin-10 receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) GGGAAACAGGGAGCCCCCTGT 0.647000 19 29 0 0 1 0 0 ZNF10 7556 broad.mit.edu 37 12 133732691 133732691 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr12:133732691C>T ENST00000248211.6 + 5 1081 c.859C>T c.(859-861)Cat>Tat p.H287Y ZNF268_ENST00000416488.1_Intron|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000426665.2_Missense_Mutation_p.H287Y|ZNF10_ENST00000402932.2_Missense_Mutation_p.H153Y NM_015394.4 NP_056209.2 P21506 ZNF10_HUMAN zinc finger protein 10 287 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) TCAGCTTATTCATACTGGAGA 0.418000 9 55 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179610636 179610636 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:179610636C>G ENST00000360870.5 - 46 16713 c.16491G>C c.(16489-16491)aaG>aaC p.K5497N TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8982 Ig-like 35. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTAGTTGCTCTTTAAGACCA 0.408000 15 44 0 0 1 0 0 AP2A1 160 broad.mit.edu 37 19 50302947 50302947 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:50302947G>A ENST00000354293.5 + 10 1362 c.1196G>A c.(1195-1197)cGg>cAg p.R399Q AP2A1_ENST00000359032.5_Missense_Mutation_p.R399Q NM_130787.2 NP_570603.2 O95782 AP2A1_HUMAN adaptor-related protein complex 2, alpha 1 subunit 399 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol protein binding|protein transporter activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2) 19 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157) ATGTGTGACCGGAGCAATGCC 0.647000 83 136 0 0 1 0 0 GNB3 2784 broad.mit.edu 37 12 6954874 6954874 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr12:6954874C>G ENST00000229264.3 + 10 1229 c.824C>G c.(823-825)tCc>tGc p.S275C GNB3_ENST00000435982.2_Missense_Mutation_p.S274C|CDCA3_ENST00000422785.3_3'UTR|CDCA3_ENST00000604599.1_5'UTR NM_002075.2 NP_002066.1 P16520 GBB3_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 3 275 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission plasma membrane GTPase activity|GTPase binding|signal transducer activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1) 20 GGCATCACGTCCGTGGCCTTC 0.597000 149 237 0 0 1 0 0 NAALAD2 10003 broad.mit.edu 37 11 89914805 89914805 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr11:89914805G>A ENST00000534061.1 + 17 2106 c.1876G>A c.(1876-1878)Gtg>Atg p.V626M NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.V593M NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 626 proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) ATTTTCTGCTGTGAAAAACTT 0.318000 3 10 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713944 142713944 + RNA SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:142713944C>T ENST00000610091.1 - 0 1714 TGATTACCTCCGAAGTTAAAG 0.308000 3 4 0 0 1 0 0 OR4E2 26686 broad.mit.edu 37 14 22134223 22134223 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr14:22134223G>A ENST00000408935.1 + 1 927 c.927G>A c.(925-927)acG>acA p.T309T NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T309T(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) TTTTTTTCACGAAATCATATA 0.393000 4 11 0 0 1 0 0 DLG1 1739 broad.mit.edu 37 3 196792639 196792639 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr3:196792639C>G ENST00000346964.2 - 22 2428 c.2239G>C c.(2239-2241)Gac>Cac p.D747H DLG1_ENST00000357674.4_Missense_Mutation_p.D714H|DLG1_ENST00000448528.2_Missense_Mutation_p.D725H|DLG1_ENST00000314062.3_Missense_Mutation_p.D674H|DLG1_ENST00000443183.1_Missense_Mutation_p.D621H|DLG1_ENST00000422288.1_Missense_Mutation_p.D674H|DLG1_ENST00000392382.2_Missense_Mutation_p.D692H|DLG1_ENST00000450955.1_Missense_Mutation_p.D714H|DLG1_ENST00000419354.1_Missense_Mutation_p.D725H|DLG1_ENST00000452595.1_Missense_Mutation_p.D609H NM_004087.2 NP_004078.2 Q12959 DLG1_HUMAN discs, large homolog 1 (Drosophila) 725 Guanylate kinase-like. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) TTTATCCTGTCTTTCATAGGT 0.299000 12 42 0 0 1 0 0 ZNF594 84622 broad.mit.edu 37 17 5086617 5086617 + Missense_Mutation SNP T T C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr17:5086617T>C ENST00000399604.4 - 1 1075 c.935A>G c.(934-936)gAa>gGa p.E312G ZNF594_ENST00000575779.1_Missense_Mutation_p.E312G Q96JF6 ZN594_HUMAN zinc finger protein 594 312 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TCTCTGGTGTTCAGTAAGGTG 0.453000 21 25 0 0 1 0 0 TP73 7161 broad.mit.edu 37 1 3644231 3644231 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:3644231C>T ENST00000378295.4 + 8 1037 c.882C>T c.(880-882)atC>atT p.I294I TP73_ENST00000604074.1_Silent_p.I294I|TP73_ENST00000354437.4_Silent_p.I294I|TP73_ENST00000378290.4_Silent_p.I223I|TP73_ENST00000378285.1_Silent_p.I245I|TP73_ENST00000603362.1_Silent_p.I294I|TP73_ENST00000604479.1_Silent_p.I294I|TP73_ENST00000378288.4_Silent_p.I245I|TP73_ENST00000357733.3_Silent_p.I294I|TP73_ENST00000346387.4_Silent_p.I294I|TP73_ENST00000378280.1_Silent_p.I245I NM_001204185.1|NM_005427.3 NP_001191114.1|NP_005418.1 O15350 P73_HUMAN tumor protein p73 294 DNA-binding (Potential). cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1) 20 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) AGGGCCGCATCTGCGCCTGTC 0.672000 7 14 0 0 1 0 0 SLC25A29 123096 broad.mit.edu 37 14 100758860 100758860 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr14:100758860G>A ENST00000554912.1 - 2 3761 c.474C>T c.(472-474)ggC>ggT p.G158G SLC25A29_ENST00000539621.1_Silent_p.G158G|SLC25A29_ENST00000392908.3_3'UTR|SLC25A29_ENST00000359232.3_Silent_p.G224G|RP11-638I2.6_ENST00000556458.1_lincRNA|SLC25A29_ENST00000556505.1_Silent_p.G158G|SLC25A29_ENST00000555927.1_Silent_p.G158G Q8N8R3 MCATL_HUMAN solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29 224 integral to membrane|mitochondrial inner membrane binding NS(1)|endometrium(1)|ovary(1) 3 Melanoma(154;0.152) L-Carnitine(DB00583) AGCGCGGGGCGCCCCGCAGTC 0.706000 7 19 0 0 1 0 0 API5 8539 broad.mit.edu 37 11 43333683 43333683 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr11:43333683G>A ENST00000378852.3 + 1 131 c.6G>A c.(4-6)ccG>ccA p.P2P API5_ENST00000420461.2_Silent_p.P2P|API5_ENST00000531273.1_Silent_p.P2P|API5_ENST00000455725.2_5'UTR|API5_ENST00000534600.1_Silent_p.P2P|API5_ENST00000534695.1_Silent_p.P2P NM_001142930.1|NM_006595.3 NP_001136402.1|NP_006586.1 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 2 Not acetylated. 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 TCACCATGCCGACAGTAGAGG 0.647000 OREG0020900 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 35 0 0 1 0 0 ANO9 338440 broad.mit.edu 37 11 418436 418436 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr11:418436G>A ENST00000332826.6 - 23 2368 c.2284C>T c.(2284-2286)Cgg>Tgg p.R762W NM_001012302.2 NP_001012302 A1A5B4 ANO9_HUMAN anoctamin 9 762 chloride channel complex chloride channel activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4) 21 ATTGGGGGCCGAGAGCCTGCC 0.627000 14 28 0 0 1 0 0 KCNK13 56659 broad.mit.edu 37 14 90650948 90650948 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr14:90650948C>G ENST00000282146.4 + 2 1269 c.828C>G c.(826-828)ttC>ttG p.F276L NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 276 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) ACTCCTTGTTCAATGTCATCT 0.522000 23 78 0 0 1 0 0 RNF7 9616 broad.mit.edu 37 3 141462354 141462354 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr3:141462354C>T ENST00000273480.3 + 2 317 c.179C>T c.(178-180)gCc>gTc p.A60V RNF7_ENST00000393000.3_Missense_Mutation_p.P58S|RNF7_ENST00000480908.1_Intron NM_014245.4|NM_183237.2 NP_055060.1|NP_899060.1 Q9UBF6 RBX2_HUMAN ring finger protein 7 60 anti-apoptosis|induction of apoptosis by oxidative stress|protein neddylation|response to redox state cytoplasm|nucleus copper ion binding|NEDD8 ligase activity|protein binding|zinc ion binding kidney(1)|lung(3)|upper_aerodigestive_tract(1) 5 CTTTTAGATGCCTGTCTTAGA 0.373000 16 35 0 0 1 0 0 ACTA2 59 broad.mit.edu 37 10 90695108 90695108 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr10:90695108C>T ENST00000458208.1 - 9 1480 c.1006G>A c.(1006-1008)Gag>Aag p.E336K ACTA2-AS1_ENST00000437930.4_RNA|ACTA2_ENST00000224784.6_Missense_Mutation_p.E336K|STAMBPL1_ENST00000371927.3_Intron NM_001141945.1 NP_001135417.1 P62736 ACTA_HUMAN actin, alpha 2, smooth muscle, aorta 336 response to virus cytosol ATP binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2) 17 Colorectal(252;0.0161) Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018) TATTTGCGCTCCGGAGGGGCA 0.507000 OREG0020356 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 56 16 0 0 1 0 0 GPR107 57720 broad.mit.edu 37 9 132889830 132889830 + Nonsense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr9:132889830G>A ENST00000372406.1 + 18 2076 c.1569G>A c.(1567-1569)tgG>tgA p.W523* GPR107_ENST00000347136.6_Nonsense_Mutation_p.W475*|GPR107_ENST00000372410.3_Nonsense_Mutation_p.W494* NM_001136557.1 NP_001130029.1 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 523 integral to membrane endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 11 Ovarian(14;0.000531) CATTCCAGTGGAAGTGGCTCT 0.418000 25 12 0 0 1 0 0 KBTBD6 89890 broad.mit.edu 37 13 41705613 41705613 + Missense_Mutation SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr13:41705613C>A ENST00000379485.1 - 1 1269 c.1035G>T c.(1033-1035)atG>atT p.M345I KBTBD6_ENST00000499385.2_Missense_Mutation_p.M279I NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 345 protein binding NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) AGAAGATCACCATCTCCTTGG 0.527000 5 63 0.000673444 0.000679439 1 1 0 EP300 2033 broad.mit.edu 37 22 41573719 41573719 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr22:41573719C>G ENST00000263253.7 + 31 7223 c.6004C>G c.(6004-6006)Cag>Gag p.Q2002E RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 2002 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 AGGATTGCCTCAGCCCCAGCA 0.602000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 37 17 0 0 1 0 0 ZNF32 7580 broad.mit.edu 37 10 44140096 44140096 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr10:44140096C>G ENST00000395797.1 - 3 412 c.224G>C c.(223-225)aGg>aCg p.R75T ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000485351.1_Intron|ZNF32_ENST00000374433.2_Missense_Mutation_p.R75T|ZNF32-AS1_ENST00000453284.1_RNA NM_001005368.1 NP_001005368.1 P17041 ZNF32_HUMAN zinc finger protein 32 75 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 14 all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157) Lung(62;0.179) CTCATAGACCCTTTGTCTCAC 0.448000 37 23 0 0 1 0 0 C7orf26 79034 broad.mit.edu 37 7 6629998 6629998 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:6629998C>T ENST00000344417.5 + 1 351 c.84C>T c.(82-84)ttC>ttT p.F28F C7orf26_ENST00000359073.5_Silent_p.F28F NM_024067.2 NP_076972.2 Q96N11 CG026_HUMAN chromosome 7 open reading frame 26 28 endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 11 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986) ACATCTACTTCAGCAGCCAGC 0.692000 15 25 0 0 1 0 0 C1GALT1 56913 broad.mit.edu 37 7 7278084 7278084 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:7278084G>C ENST00000436587.2 + 3 642 c.419G>C c.(418-420)aGa>aCa p.R140T C1GALT1_ENST00000402468.3_Missense_Mutation_p.R140T|C1GALT1_ENST00000223122.3_Missense_Mutation_p.R140T NM_020156.3 NP_064541.1 Q9NS00 C1GLT_HUMAN core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 140 angiogenesis|cell differentiation|kidney development integral to membrane glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1) 7 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) AAAGAAGGCAGAGATCAACTA 0.373000 8 26 0 0 1 0 0 EIF3L 51386 broad.mit.edu 37 22 38266268 38266268 + Nonsense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr22:38266268G>A ENST00000412331.2 + 8 1247 c.665G>A c.(664-666)tGg>tAg p.W222* EIF3L_ENST00000476955.1_3'UTR|EIF3L_ENST00000406934.1_Nonsense_Mutation_p.W124*|EIF3L_ENST00000381683.6_Nonsense_Mutation_p.W174* NM_016091.3 NP_057175.1 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3, subunit L 222 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CCCAAAATCTGGAATGTTCAT 0.458000 16 25 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79284133 79284133 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:79284133C>T ENST00000419573.3 - 22 3353 c.3079G>A c.(3079-3081)Gaa>Aaa p.E1027K RASGRF1_ENST00000394745.3_Missense_Mutation_p.E243K|RASGRF1_ENST00000558480.2_Missense_Mutation_p.E1011K|RASGRF1_ENST00000560334.1_5'UTR NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 1029 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TTCACGCCTTCAGCCTGGTTT 0.547000 6 27 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 5 92 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 3998602 3998602 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:3998602C>T ENST00000404826.2 + 8 1329 c.1190C>T c.(1189-1191)tCa>tTa p.S397L SDK1_ENST00000389531.3_Missense_Mutation_p.S397L NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 397 Ig-like C2-type 4. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) AGTCGGATTTCAGCTGAAGTA 0.468000 17 71 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5214591 5214591 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:5214591C>T ENST00000372412.4 - 29 4711 c.4478G>A c.(4477-4479)cGg>cAg p.R1493Q PTPRS_ENST00000262963.6_Missense_Mutation_p.R1472Q|PTPRS_ENST00000587303.1_Missense_Mutation_p.R1492Q|PTPRS_ENST00000588012.1_Missense_Mutation_p.R1454Q|PTPRS_ENST00000348075.2_Missense_Mutation_p.R1454Q|PTPRS_ENST00000353284.2_Missense_Mutation_p.R1045Q|PTPRS_ENST00000357368.4_Missense_Mutation_p.R1492Q|PTPRS_ENST00000592099.1_Missense_Mutation_p.R1045Q|PTPRS_ENST00000588552.1_5'UTR Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1492 Tyrosine-protein phosphatase 1. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) CTCCTCCAGCCGCGTCATCAT 0.632000 19 55 0 0 1 0 0 USP25 29761 broad.mit.edu 37 21 17250767 17250767 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr21:17250767C>T ENST00000285681.2 + 25 3606 c.3237C>T c.(3235-3237)ctC>ctT p.L1079L USP25_ENST00000400183.2_Silent_p.L1117L|USP25_ENST00000351097.5_Silent_p.L442L|USP25_ENST00000285679.6_Silent_p.L1047L NM_001283042.1 NP_001269971.1 Q9UHP3 UBP25_HUMAN ubiquitin specific peptidase 25 1047 protein modification process|ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2) 52 Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889) TGTTGTCCCTCAGTCGAACTC 0.433000 32 35 0 0 1 0 0 C7orf57 136288 broad.mit.edu 37 7 48080989 48080989 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:48080989G>A ENST00000348904.3 + 3 326 c.114G>A c.(112-114)gcG>gcA p.A38A C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000430738.1_Silent_p.A83A|C7orf57_ENST00000539619.1_Silent_p.A38A|C7orf57_ENST00000420324.1_Silent_p.A83A NM_001100159.2 NP_001093629.1 Q8NEG2 CG057_HUMAN chromosome 7 open reading frame 57 38 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 9 CCCCACCAGCGTCCCAGATCC 0.537000 36 49 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33928729 33928729 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:33928729C>T ENST00000389232.4 + 27 3604 c.3534C>T c.(3532-3534)ttC>ttT p.F1178F RYR3_ENST00000415757.3_Silent_p.F1178F NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1178 4 X approximate repeats.|B30.2/SPRY 2. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.F1178F(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AACTTGCCTTCGCTGACTACG 0.493000 11 54 0 0 1 0 0 UGT2B11 10720 broad.mit.edu 37 4 70071201 70071201 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr4:70071201G>C ENST00000446444.1 - 4 1095 c.1087C>G c.(1087-1089)Cta>Gta p.L363V RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 363 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 GTGTTACCTAGAAGGTCATTC 0.378000 24 65 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39438670 39438670 + Nonsense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr13:39438670G>A ENST00000280481.7 + 16 8126 c.7910G>A c.(7909-7911)tGg>tAg p.W2637* NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2637 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GCCTGTTTATGGGAGTTCGTT 0.458000 20 27 0 0 1 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862968 10862968 + RNA SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr21:10862968C>A ENST00000559480.1 + 0 264 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 CCAGAGTCACCATAACCAGGG 0.527000 66 410 1.54081e-58 1.66839e-58 1 1 0 METRNL 284207 broad.mit.edu 37 17 81043019 81043019 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr17:81043019G>A ENST00000571814.1 + 1 1071 c.130G>A c.(130-132)Gaa>Aaa p.E44K METRNL_ENST00000570778.1_Missense_Mutation_p.E44K|METRNL_ENST00000320095.7_Missense_Mutation_p.E126K Q641Q3 METRL_HUMAN meteorin, glial cell differentiation regulator-like 126 extracellular region endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) AAAAACTGGAGAACTGAGACT 0.637000 4 66 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16199610 16199610 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:16199610G>A ENST00000375759.3 + 2 587 c.383G>A c.(382-384)cGt>cAt p.R128H NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 128 Arg-rich. 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) CGAGAAGGACGTTATGAGCGG 0.488000 19 38 0 0 1 0 0 NSUN3 63899 broad.mit.edu 37 3 93802971 93802971 + Nonsense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr3:93802971C>G ENST00000314622.4 + 3 354 c.143C>G c.(142-144)tCa>tGa p.S48* NM_022072.3 NP_071355.1 Q9H649 NSUN3_HUMAN NOP2/Sun domain family, member 3 48 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1) 18 ACATCTCCATCATGCTGGCAA 0.338000 23 24 0 0 1 0 0 SENP5 205564 broad.mit.edu 37 3 196613169 196613169 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr3:196613169C>T ENST00000323460.5 + 2 1366 c.1117C>T c.(1117-1119)Cat>Tat p.H373Y SENP5_ENST00000445299.2_Missense_Mutation_p.H373Y|SENP5_ENST00000419026.1_Intron NM_152699.4 NP_689912.2 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 373 cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity p.H373Y(1) NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1) 32 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) AGAGCTGATTCATGACATCCC 0.443000 6 38 0 0 1 0 0 ODF4 146852 broad.mit.edu 37 17 8248778 8248778 + Missense_Mutation SNP T T C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr17:8248778T>C ENST00000328248.2 + 2 760 c.572T>C c.(571-573)aTc>aCc p.I191T ODF4_ENST00000584943.1_Missense_Mutation_p.I76T NM_153007.4 NP_694552.2 Q2M2E3 ODFP4_HUMAN outer dense fiber of sperm tails 4 191 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1) 8 CTGGTGCTTATCCTATACTTC 0.532000 75 30 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34151822 34151822 + Missense_Mutation SNP T T G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:34151822T>G ENST00000389232.4 + 100 14259 c.14189T>G c.(14188-14190)aTt>aGt p.I4730S RP11-3D4.2_ENST00000560268.1_RNA|RYR3_ENST00000415757.3_Missense_Mutation_p.I4725S NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 4730 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGAGGTGGCATTGGTGATGAA 0.423000 9 29 0 0 1 0 0 RNF220 55182 broad.mit.edu 37 1 44878109 44878109 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:44878109C>G ENST00000355387.2 + 2 790 c.340C>G c.(340-342)Cat>Gat p.H114D RNF220_ENST00000361799.2_Missense_Mutation_p.H114D|RNF220_ENST00000372247.2_Missense_Mutation_p.H114D Q5VTB9 RN220_HUMAN ring finger protein 220 114 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 29 TATGCTGAATCATAGTGGTGT 0.537000 108 78 0 0 1 0 0 GPR151 134391 broad.mit.edu 37 5 145894746 145894746 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:145894746C>T ENST00000311104.2 - 1 1007 c.931G>A c.(931-933)Gaa>Aaa p.E311K NM_194251.2 NP_919227.2 Q8TDV0 GP151_HUMAN G protein-coupled receptor 151 311 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2) 14 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTGAACTCTTCCGACATCACA 0.478000 7 8 0 0 1 0 0 ZNF71 58491 broad.mit.edu 37 19 57133966 57133966 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:57133966G>A ENST00000328070.6 + 3 1545 c.1311G>A c.(1309-1311)ccG>ccA p.P437P NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 437 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) GCGAGAAGCCGTACAGGTGCG 0.647000 4 102 0 0 1 0 0 ZNF645 158506 broad.mit.edu 37 X 22291896 22291896 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chrX:22291896G>A ENST00000323684.1 + 1 832 c.788G>A c.(787-789)tGt>tAt p.C263Y NM_152577.3 NP_689790.1 Q8N7E2 ZN645_HUMAN zinc finger protein 645 263 Pro-rich. intracellular zinc ion binding cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 27 TATCCTGAGTGTCAAAGTCAA 0.413000 55 70 0 0 1 0 0 MRS2 57380 broad.mit.edu 37 6 24416692 24416692 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr6:24416692G>C ENST00000378386.3 + 7 880 c.787G>C c.(787-789)Gag>Cag p.E263Q MRS2_ENST00000535061.1_Missense_Mutation_p.E213Q|MRS2_ENST00000378353.1_Missense_Mutation_p.E263Q|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000483634.1_3'UTR|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000443868.2_Missense_Mutation_p.E266Q NM_020662.2 NP_065713.1 Q9HD23 MRS2_HUMAN MRS2 magnesium transporter 263 ion transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 GGATGAGGAAGAGTTGCTAGA 0.294000 41 7 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79026793 79026793 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:79026793G>A ENST00000446378.2 + 2 2236 c.2205G>A c.(2203-2205)gaG>gaA p.E735E NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 735 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CATCAGAAGAGAAGGAAGACA 0.463000 13 49 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9190395 9190395 + Silent SNP G G T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:9190395G>T ENST00000382496.5 - 11 1922 c.1257C>A c.(1255-1257)atC>atA p.I419I NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 419 Sema. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 CCAAATAGATGATGTGGACGA 0.498000 8 34 0.000442599 0.000447868 1 1 0 SAMD15 161394 broad.mit.edu 37 14 77843846 77843846 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr14:77843846C>T ENST00000216471.4 + 1 371 c.85C>T c.(85-87)Cat>Tat p.H29Y SAMD15_ENST00000533095.2_Intron NM_001010860.1 NP_001010860.1 Q9P1V8 SAM15_HUMAN sterile alpha motif domain containing 15 29 breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GCCTGGACTTCATAAATTGTA 0.517000 15 21 0 0 1 0 0 OR2F1 26211 broad.mit.edu 37 7 143657918 143657918 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:143657918G>A ENST00000392899.1 + 1 892 c.855G>A c.(853-855)ctG>ctA p.L285L NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) CACCAATGCTGAACCCCATGA 0.453000 26 46 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41572932 41572932 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr22:41572932C>G ENST00000263253.7 + 31 6436 c.5217C>G c.(5215-5217)atC>atG p.I1739M RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1739 Binding region for E1A adenovirus. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 AGCGCTGCATCCAGTCTCTGG 0.562000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 37 16 0 0 1 0 0 LOC100130331 100130331 broad.mit.edu 37 1 238090509 238090509 + RNA SNP T T C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:238090509T>C ENST00000450451.1 + 0 2015 NR_027247.2 TTTGAGACCTTCAACTCCCCG 0.607000 21 73 0 0 1 0 0 CTSB 1508 broad.mit.edu 37 8 11708405 11708405 + Missense_Mutation SNP G G C rs144771892 TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr8:11708405G>C ENST00000353047.6 - 4 550 c.297C>G c.(295-297)atC>atG p.I99M CTSB_ENST00000531089.1_Missense_Mutation_p.I99M|CTSB_ENST00000345125.3_Missense_Mutation_p.I99M|CTSB_ENST00000453527.2_Missense_Mutation_p.I99M|CTSB_ENST00000415599.2_Missense_Mutation_p.I99M|CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000530640.2_Missense_Mutation_p.I99M|CTSB_ENST00000434271.1_Missense_Mutation_p.I99M|CTSB_ENST00000534510.1_Missense_Mutation_p.I99M|CTSB_ENST00000533455.1_Missense_Mutation_p.I99M NM_001908.3 NP_001899.1 P07858 CATB_HUMAN cathepsin B 99 proteolysis|regulation of apoptosis|regulation of catalytic activity lysosome|melanosome cysteine-type endopeptidase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1) 16 all_epithelial(15;0.205) STAD - Stomach adenocarcinoma(15;0.00546) COAD - Colon adenocarcinoma(149;0.184) CCTGGTCTCTGATCTCTTTGA 0.572000 10 14 0 0 1 0 0 NDST3 9348 broad.mit.edu 37 4 119158371 119158371 + Missense_Mutation SNP A A G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr4:119158371A>G ENST00000296499.5 + 10 2517 c.2114A>G c.(2113-2115)tAc>tGc p.Y705C NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 705 Heparan sulfate N-sulfotransferase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 TACTCCTGGTACCAGGTAAGG 0.443000 8 35 0 0 1 0 0 TSPAN4 7106 broad.mit.edu 37 11 862710 862710 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr11:862710C>T ENST00000397404.1 + 4 483 c.224C>T c.(223-225)gCc>gTc p.A75V TSPAN4_ENST00000397397.2_Missense_Mutation_p.A75V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.A11V|TSPAN4_ENST00000409531.1_Missense_Mutation_p.A94V|TSPAN4_ENST00000397408.1_Missense_Mutation_p.A75V|TSPAN4_ENST00000397411.2_Missense_Mutation_p.A75V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.A75V|TSPAN4_ENST00000346501.4_Missense_Mutation_p.A75V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.A11V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.A75V NM_001025237.1 NP_001020408.1 O14817 TSN4_HUMAN tetraspanin 4 75 protein complex assembly integral to plasma membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGCCTGGGTGCCATCAAGGAG 0.667000 8 22 0 0 1 0 0 HSF1 3297 broad.mit.edu 37 8 145535421 145535421 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr8:145535421C>T ENST00000528838.1 + 8 919 c.759C>T c.(757-759)taC>taT p.Y253Y HSF1_ENST00000400780.4_Silent_p.Y188Y NM_005526.2 NP_005517.1 Q00613 HSF1_HUMAN heat shock transcription factor 1 253 Regulatory domain. cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2) 11 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) CCAGCCTCTACGCCCCTGATG 0.672000 26 83 0 0 1 0 0 PCDHGA10 56106 broad.mit.edu 37 5 140794089 140794089 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:140794089C>T ENST00000398610.2 + 1 1347 c.1347C>T c.(1345-1347)atC>atT p.I449I PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGCAGATATCAATGACAACC 0.498000 27 113 0 0 1 0 0 GBP1 2633 broad.mit.edu 37 1 89522638 89522638 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:89522638C>G ENST00000370473.4 - 7 1273 c.1054G>C c.(1054-1056)Gag>Cag p.E352Q NM_002053.2 NP_002044.2 P32455 GBP1_HUMAN guanylate binding protein 1, interferon-inducible 352 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 30 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) TCCAGCAGCTCCTGGAGGGTT 0.517000 18 48 0 0 1 0 0 INO80D 54891 broad.mit.edu 37 2 206882469 206882469 + Missense_Mutation SNP A A C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:206882469A>C ENST00000403263.1 - 8 1881 c.1477T>G c.(1477-1479)Tgc>Ggc p.C493G NM_017759.4 NP_060229.3 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 493 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 26 GGCACAGAGCACTGCTGTCCA 0.413000 9 11 0 0 1 0 0 MIR4485 100616263 broad.mit.edu 37 MT 2978 2978 + RNA SNP T T C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chrM:2978T>C ENST00000387347.2 + 0 1308 NR_039705.1 TCAACAATAGGGTTTACGACC 0.433000 9 151 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20999096 20999096 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr16:20999096C>T ENST00000261383.3 - 46 6800 c.6801G>A c.(6799-6801)tcG>tcA p.S2267S DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2267 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.S2267S(2) NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AATGTGACTTCGAGGGAGTTG 0.493000 29 12 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4711438 4711438 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr3:4711438G>A ENST00000302640.8 + 18 2292 c.1942G>A c.(1942-1944)Gac>Aac p.D648N ITPR1_ENST00000456211.2_Missense_Mutation_p.D648N|ITPR1_ENST00000357086.4_Missense_Mutation_p.D663N|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.D648N|ITPR1_ENST00000354582.6_Missense_Mutation_p.D663N|ITPR1_ENST00000423119.2_Missense_Mutation_p.D663N NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 663 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding p.D648Y(2)|p.D663Y(1) NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) CACCAACGCTGACATCCTGAT 0.468000 6 13 0 0 1 0 0 MIR4485 100616263 broad.mit.edu 37 MT 2087 2087 + RNA SNP T T C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chrM:2087T>C ENST00000387347.2 + 0 417 NR_039705.1 TCCCCTTGTAAATTTAACTGT 0.408000 54 6 0 0 1 0 0 PLEKHN1 84069 broad.mit.edu 37 1 909268 909268 + Missense_Mutation SNP C C T rs140958781 byFrequency TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:909268C>T ENST00000379409.2 + 13 1676 c.1646C>T c.(1645-1647)tCg>tTg p.S549L PLEKHN1_ENST00000379407.3_Missense_Mutation_p.S462L|PLEKHN1_ENST00000379410.3_Missense_Mutation_p.S497L Q494U1 PKHN1_HUMAN pleckstrin homology domain containing, family N member 1 549 central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1) 9 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) CCACTCCCCTCGGTGCCTGTG 0.697000 28 75 0 0 1 0 0 PWP2 5822 broad.mit.edu 37 21 45550606 45550606 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr21:45550606C>G ENST00000291576.7 + 21 2840 c.2713C>G c.(2713-2715)Ctg>Gtg p.L905V NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 905 cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) CAGCCTGCATCTGCTTGGAGG 0.582000 53 60 0 0 1 0 0 C7orf10 79783 broad.mit.edu 37 7 40174619 40174619 + Silent SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:40174619G>C ENST00000309930.5 + 1 45 c.21G>C c.(19-21)gcG>gcC p.A7A C7orf10_ENST00000401647.2_Silent_p.A7A|C7orf10_ENST00000540834.1_5'UTR|C7orf10_ENST00000335693.4_Silent_p.A7A NM_001193311.1|NM_024728.2 NP_001180240.1|NP_079004.1 Q9HAC7 CG010_HUMAN chromosome 7 open reading frame 10 7 transferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2) 18 AGACGCACGCGATGCTGGCGA 0.756000 5 10 0 0 1 0 0 ZNF721 170960 broad.mit.edu 37 4 436766 436766 + Missense_Mutation SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr4:436766C>A ENST00000338977.5 - 2 1502 c.1454G>T c.(1453-1455)gGc>gTc p.G485V ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.G497V|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron zinc finger protein 721 endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 GGGTTTCTCGCCAGTATGAAT 0.383000 11 41 9.31168e-06 9.53606e-06 1 1 0 PAN2 9924 broad.mit.edu 37 12 56718262 56718262 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr12:56718262G>A ENST00000425394.2 - 12 2120 c.1744C>T c.(1744-1746)Cgg>Tgg p.R582W PAN2_ENST00000440411.3_Missense_Mutation_p.R582W|PAN2_ENST00000257931.5_Missense_Mutation_p.R582W|PAN2_ENST00000548043.1_Missense_Mutation_p.R582W NM_001127460.2 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 582 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 CGGAATGCCCGAAGAAAATTA 0.498000 10 5 0 0 1 0 0 SLC26A8 116369 broad.mit.edu 37 6 35928812 35928812 + Nonsense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr6:35928812G>C ENST00000490799.1 - 13 1879 c.1526C>G c.(1525-1527)tCa>tGa p.S509* SLC26A8_ENST00000394602.2_Nonsense_Mutation_p.S404*|SLC26A8_ENST00000355574.2_Nonsense_Mutation_p.S509* NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 509 cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 AGAAACTACTGAGATAATTAG 0.413000 6 20 0 0 1 0 0 SON 6651 broad.mit.edu 37 21 34932240 34932240 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr21:34932240C>T ENST00000300278.4 + 7 6744 c.6715C>T c.(6715-6717)Cat>Tat p.H2239Y SON_ENST00000356577.4_Intron|SON_ENST00000290239.6_Intron|SON_ENST00000381692.2_Intron NM_032195.1 NP_115571 P18583 SON_HUMAN SON DNA binding protein 0 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 CGCAGCTTCTCATTTGACAGT 0.448000 4 19 0 0 1 0 0 STIL 6491 broad.mit.edu 37 1 47767334 47767334 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:47767334G>A ENST00000360380.3 - 6 715 c.352C>T c.(352-354)Ctt>Ttt p.L118F STIL_ENST00000371877.3_Missense_Mutation_p.L118F|STIL_ENST00000243182.6_Missense_Mutation_p.L118F|STIL_ENST00000396221.2_Missense_Mutation_p.L118F|STIL_ENST00000337817.5_Missense_Mutation_p.L118F NM_001282936.1 NP_001269865.1 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 118 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) TCCCCAGGAAGAGAAGCAGTA 0.388000 12 14 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 5 120 0 0 1 0 0 AFF1 4299 broad.mit.edu 37 4 88052994 88052994 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr4:88052994G>C ENST00000307808.6 + 17 3550 c.3130G>C c.(3130-3132)Gag>Cag p.E1044Q AFF1_ENST00000544085.1_Missense_Mutation_p.E682Q|AFF1_ENST00000395146.4_Missense_Mutation_p.E1051Q NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 1044 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) GCCAACACAAGAGAAAATATT 0.308000 3 14 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4711446 4711446 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr3:4711446G>A ENST00000302640.8 + 18 2300 c.1950G>A c.(1948-1950)ctG>ctA p.L650L ITPR1_ENST00000456211.2_Silent_p.L650L|ITPR1_ENST00000357086.4_Silent_p.L665L|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Silent_p.L650L|ITPR1_ENST00000354582.6_Silent_p.L665L|ITPR1_ENST00000423119.2_Silent_p.L665L NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 665 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) CTGACATCCTGATTGAGACCA 0.463000 5 12 0 0 1 0 0 LAMC2 3918 broad.mit.edu 37 1 183208644 183208644 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:183208644G>C ENST00000264144.4 + 20 3080 c.3015G>C c.(3013-3015)caG>caC p.Q1005H LAMC2_ENST00000461729.1_3'UTR|LAMC2_ENST00000493293.1_Missense_Mutation_p.Q1005H NM_005562.2 NP_005553.2 Q13753 LAMC2_HUMAN laminin, gamma 2 1005 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 CTGATGCACAGAGGGCAAAGA 0.537000 31 78 0 0 1 0 0 KRTAP5-11 440051 broad.mit.edu 37 11 71293573 71293573 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr11:71293573G>C ENST00000398530.1 - 1 348 c.311C>G c.(310-312)tCc>tGc p.S104C KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron NM_001005405.2 NP_001005405.1 Q6L8G4 KR511_HUMAN keratin associated protein 5-11 104 6 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 ggagcagctggactggcagca 0.617000 65 149 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41583422 41583422 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr8:41583422C>T ENST00000396942.1 - 6 552 c.469G>A c.(469-471)Gag>Aag p.E157K ANK1_ENST00000352337.4_Missense_Mutation_p.E157K|ANK1_ENST00000396945.1_Missense_Mutation_p.E157K|ANK1_ENST00000379758.2_Missense_Mutation_p.E157K|ANK1_ENST00000347528.4_Missense_Mutation_p.E157K|ANK1_ENST00000265709.8_Missense_Mutation_p.E190K|ANK1_ENST00000289734.7_Missense_Mutation_p.E157K P16157 ANK1_HUMAN ankyrin 1, erythrocytic 157 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) ACGACGTTCTCATGGCCCTGC 0.662000 26 18 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27800241 27800241 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:27800241G>A ENST00000408964.2 + 1 853 c.802G>A c.(802-804)Gaa>Aaa p.E268K NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 268 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) GATTACTCCGGAACTCAAGCA 0.463000 27 37 0 0 1 0 0 INTS4P2 644619 broad.mit.edu 37 7 65154292 65154292 + RNA SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:65154292C>T ENST00000430126.2 + 0 776 CAGAGATATTCGAGAGGCTCT 0.403000 5 15 0 0 1 0 0 CADM2 253559 broad.mit.edu 37 3 86010686 86010686 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr3:86010686G>C ENST00000383699.3 + 8 1486 c.859G>C c.(859-861)Ggt>Cgt p.G287R CADM2_ENST00000407528.2_Missense_Mutation_p.G278R|CADM2_ENST00000405615.2_Missense_Mutation_p.G280R NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 278 Ig-like C2-type 2. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) GGTTGTGAGTGGTAGGGAGCT 0.433000 26 83 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29106036 29106036 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr22:29106036G>A ENST00000544772.1 - 8 1577 c.141C>T c.(139-141)ctC>ctT p.L47L CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000403642.1_Silent_p.L177L|CHEK2_ENST00000382578.1_Silent_p.L177L|CHEK2_ENST00000348295.3_Silent_p.L268L|CHEK2_ENST00000328354.6_Silent_p.L268L|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Silent_p.L268L|CHEK2_ENST00000382566.1_Silent_p.L268L|CHEK2_ENST00000382580.2_Silent_p.L311L|CHEK2_ENST00000405598.1_Silent_p.L268L|CHEK2_ENST00000404276.1_Silent_p.L268L NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 268 cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 TTTCAACATTGAGAGCTGGGT 0.264000 F breast Direct reversal of damage;Other conserved DNA damage response genes 7 5 0 0 1 0 0 LOC101929006 101929006 broad.mit.edu 37 6 29231318 29231318 + RNA SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr6:29231318G>C ENST00000441381.1 + 0 79 p.S180F(1) GACCATTGCAGATATTTCACA 0.433000 12 25 0 0 1 0 0 PLEKHO2 80301 broad.mit.edu 37 15 65157389 65157389 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:65157389G>C ENST00000323544.4 + 6 903 c.775G>C c.(775-777)Gag>Cag p.E259Q AC069368.3_ENST00000437723.1_Intron NM_001195059.1|NM_025201.4 NP_001181988.1|NP_079477.2 Q8TD55 PKHO2_HUMAN pleckstrin homology domain containing, family O member 2 259 Pro-rich. NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 CAGTGGCTCTGAGCAGCCTCC 0.632000 25 32 0 0 1 0 0 RFWD2 64326 broad.mit.edu 37 1 176050418 176050418 + Missense_Mutation SNP T T C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:176050418T>C ENST00000367669.3 - 11 1661 c.1147A>G c.(1147-1149)Agt>Ggt p.S383G RFWD2_ENST00000308769.8_Missense_Mutation_p.S359G NM_022457.5 NP_071902.2 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2, E3 ubiquitin protein ligase 383 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 GCAGTTCGACTGTCATCTATA 0.328000 9 24 0 0 1 0 0 RSPH6A 81492 broad.mit.edu 37 19 46308019 46308019 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:46308019C>G ENST00000221538.3 - 3 1286 c.1144G>C c.(1144-1146)Gag>Cag p.E382Q RSPH6A_ENST00000600188.1_Missense_Mutation_p.E118Q|RSPH6A_ENST00000597055.1_Missense_Mutation_p.E382Q NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 382 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 tccATGACCTCGCCACCTTCC 0.657000 12 20 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79284125 79284125 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:79284125C>T ENST00000419573.3 - 22 3361 c.3087G>A c.(3085-3087)gtG>gtA p.V1029V RASGRF1_ENST00000394745.3_Silent_p.V245V|RASGRF1_ENST00000558480.2_Silent_p.V1013V|RASGRF1_ENST00000560334.1_5'UTR NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 1031 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GCTCAGCCTTCACGCCTTCAG 0.542000 8 29 0 0 1 0 0 LRRC4 64101 broad.mit.edu 37 7 127670203 127670203 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:127670203G>C ENST00000249363.3 - 2 748 c.491C>G c.(490-492)tCt>tGt p.S164C SND1_ENST00000354725.3_Intron NM_022143.4 NP_071426.1 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 164 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2) 26 Lung(243;0.124) GAAGGCGTAAGAGGGGATGCT 0.572000 30 135 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62871220 62871220 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr20:62871220C>T ENST00000536311.1 + 22 3646 c.3282C>T c.(3280-3282)ctC>ctT p.L1094L MYT1_ENST00000328439.1_Silent_p.L1067L Q01538 MYT1_HUMAN myelin transcription factor 1 1067 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GCCAGGCCCTCATCCAAAGTC 0.592000 40 260 0 0 1 0 0 RASIP1 54922 broad.mit.edu 37 19 49224075 49224075 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:49224075G>C ENST00000222145.4 - 12 3076 c.2872C>G c.(2872-2874)Ccc>Gcc p.P958A NM_017805.2 NP_060275.2 Q5U651 RAIN_HUMAN Ras interacting protein 1 958 signal transduction Golgi stack|perinuclear region of cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 21 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) GTGGCCACGGGAGGCCCATGG 0.602000 87 150 0 0 1 0 0 GBP1 2633 broad.mit.edu 37 1 89521722 89521722 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:89521722C>T ENST00000370473.4 - 8 1564 c.1345G>A c.(1345-1347)Gag>Aag p.E449K NM_002053.2 NP_002044.2 P32455 GBP1_HUMAN guanylate binding protein 1, interferon-inducible 449 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 30 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) CTCGGTTCCTCATAGTACTTT 0.453000 14 86 0 0 1 0 0 YAF2 10138 broad.mit.edu 37 12 42554413 42554413 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr12:42554413G>A ENST00000327791.4 - 5 516 c.449C>T c.(448-450)tCa>tTa p.S150L YAF2_ENST00000380790.4_Missense_Mutation_p.S132L|YAF2_ENST00000380788.3_Missense_Mutation_p.S165L|YAF2_ENST00000534854.2_Missense_Mutation_p.S174L|YAF2_ENST00000442791.3_Missense_Mutation_p.S198L Q8IY57 YAF2_HUMAN YY1 associated factor 2 174 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1) 8 all_cancers(12;0.000425) Lung NSC(34;0.0402)|all_lung(34;0.057) GBM - Glioblastoma multiforme(48;0.0514) TCCATTCAATGATGAGGCTTC 0.423000 8 6 0 0 1 0 0 DPY19L3 147991 broad.mit.edu 37 19 32930745 32930745 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:32930745C>G ENST00000342179.5 + 8 999 c.784C>G c.(784-786)Caa>Gaa p.Q262E DPY19L3_ENST00000392250.2_Missense_Mutation_p.Q262E|DPY19L3_ENST00000586987.1_Missense_Mutation_p.Q262E NM_207325.2 NP_997208.2 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 (C. elegans) 262 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1) 32 Esophageal squamous(110;0.162) GCAATTTAATCAATTTATGAT 0.393000 44 48 0 0 1 0 0 LPIN1 23175 broad.mit.edu 37 2 11964910 11964910 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:11964910C>T ENST00000256720.2 + 20 2759 c.2666C>T c.(2665-2667)tCa>tTa p.S889L LPIN1_ENST00000396097.1_Missense_Mutation_p.S619L|LPIN1_ENST00000396099.1_Missense_Mutation_p.S931L|LPIN1_ENST00000449576.2_Missense_Mutation_p.S974L|LPIN1_ENST00000425416.2_Missense_Mutation_p.S895L|LPIN1_ENST00000404113.2_Missense_Mutation_p.S390L NM_145693.2 NP_663731.1 Q14693 LPIN1_HUMAN lipin 1 889 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) CATTCTGCCTCAGCGTAAAAT 0.517000 12 35 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240255999 240255999 + Nonsense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:240255999C>G ENST00000319653.9 + 1 820 c.590C>G c.(589-591)tCa>tGa p.S197* NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 197 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GATTTGCTTTCAGACATCCAG 0.617000 7 38 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152690184 152690184 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr6:152690184G>C ENST00000367255.5 - 61 10331 c.9730C>G c.(9730-9732)Caa>Gaa p.Q3244E SYNE1_ENST00000341594.5_Missense_Mutation_p.Q3283E|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q3244E|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q3251E|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q3251E NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3244 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTGGCAGCTTGTCCTTCCCAC 0.498000 HNSCC(10;0.0054) 9 34 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25438416 25438416 + RNA SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:25438416G>C ENST00000424208.1 + 0 1275 SNHG14_ENST00000414175.1_RNA NR_003305.1 GCTGTGATGAGCACATCCGGG 0.572000 26 89 0 0 1 0 0 GFRA1 2674 broad.mit.edu 37 10 118030457 118030457 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr10:118030457C>G ENST00000439649.3 - 3 578 c.211G>C c.(211-213)Gag>Cag p.E71Q GFRA1_ENST00000369236.1_Missense_Mutation_p.E71Q|GFRA1_ENST00000355422.6_Missense_Mutation_p.E71Q NM_001145453.1 NP_001138925.1 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 71 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) CTGCGGCACTCATCCTTGGCC 0.607000 33 49 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50139887 50139887 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr20:50139887G>C ENST00000371564.3 - 2 1112 c.893C>G c.(892-894)gCt>gGt p.A298G NFATC2_ENST00000396009.3_Missense_Mutation_p.A298G|NFATC2_ENST00000609507.1_Missense_Mutation_p.A79G|NFATC2_ENST00000414705.1_Missense_Mutation_p.A278G|NFATC2_ENST00000609943.1_Missense_Mutation_p.A278G|NFATC2_ENST00000610033.1_Missense_Mutation_p.A79G NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 298 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) GGCAGAGCCAGCCACAGGGGG 0.706000 13 20 0 0 1 0 0 PCDH1 5097 broad.mit.edu 37 5 141244913 141244913 + Missense_Mutation SNP C C T rs149443924 TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:141244913C>T ENST00000287008.3 - 3 1130 c.983G>A c.(982-984)cGt>cAt p.R328H PCDH1_ENST00000456271.1_Missense_Mutation_p.R316H|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000536585.1_Missense_Mutation_p.R306H|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000394536.3_Missense_Mutation_p.R328H NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 328 Cadherin 3. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) TCGAAGAAGACGCCTCACAAC 0.537000 44 44 0 0 1 0 0 NUS1 116150 broad.mit.edu 37 6 118028140 118028140 + Missense_Mutation SNP C C T rs150953098 TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr6:118028140C>T ENST00000368494.3 + 5 1013 c.844C>T c.(844-846)Cgt>Tgt p.R282C NM_138459.3 NP_612468.1 Q96E22 NGBR_HUMAN nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) 282 angiogenesis|cell differentiation integral to membrane receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2) 8 all_cancers(87;0.0395)|all_epithelial(87;0.0301) GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146) CTCTGCCCTTCGTCAATATGC 0.433000 20 28 0 0 1 0 0 SLC25A30 253512 broad.mit.edu 37 13 45973211 45973211 + Nonsense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr13:45973211G>C ENST00000539591.1 - 7 627 c.464C>G c.(463-465)tCa>tGa p.S155* Q5SVS4 KMCP1_HUMAN solute carrier family 25, member 30 206 mitochondrial transport integral to membrane|mitochondrial inner membrane binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 9 Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.95e-05) GGTGAAGCTTGAGCTATAAAG 0.463000 7 34 0 0 1 0 0 MAP2K3 5606 broad.mit.edu 37 17 21207742 21207742 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr17:21207742G>A ENST00000342679.4 + 8 822 c.573G>A c.(571-573)gtG>gtA p.V191V MAP2K3_ENST00000316920.6_Silent_p.V162V|MAP2K3_ENST00000361818.5_Silent_p.V162V NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 191 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) TGGCAGATGTGAAGCCCTCCA 0.577000 36 95 0 0 1 0 0 PNPLA6 10908 broad.mit.edu 37 19 7625568 7625568 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:7625568G>A ENST00000221249.6 + 32 4051 c.3620G>A c.(3619-3621)gGa>gAa p.G1207E PNPLA6_ENST00000450331.3_Missense_Mutation_p.G1207E|PNPLA6_ENST00000414982.3_Missense_Mutation_p.G1255E|PNPLA6_ENST00000600737.1_Missense_Mutation_p.G1245E|PNPLA6_ENST00000545201.2_Missense_Mutation_p.G1180E NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 1246 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 GCGGTGTTTGGAGGCTGGAGC 0.587000 27 20 0 0 1 0 0 LYPD6B 130576 broad.mit.edu 37 2 150071149 150071149 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:150071149G>A ENST00000409642.3 + 7 950 c.549G>A c.(547-549)caG>caA p.Q183Q LYPD6B_ENST00000409876.1_Silent_p.Q159Q|LYPD6B_ENST00000280115.7_Silent_p.Q183Q|LYPD6B_ENST00000409029.1_Silent_p.Q159Q|LYPD6B_ENST00000498249.1_3'UTR NM_177964.3 NP_808879.2 Q8NI32 LPD6B_HUMAN LY6/PLAUR domain containing 6B 159 anchored to membrane|plasma membrane endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 TGCACGCTCAGAGAACATCTG 0.493000 63 148 0 0 1 0 0 ZNF425 155054 broad.mit.edu 37 7 148800826 148800826 + Silent SNP G G A rs142180575 TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:148800826G>A ENST00000378061.2 - 4 2269 c.2137C>T c.(2137-2139)Ctg>Ttg p.L713L NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 713 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TGAAGGCACAGATGGGCCTTC 0.552000 19 27 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 17153011 17153011 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr10:17153011C>T ENST00000377833.4 - 9 987 c.922G>A c.(922-924)Gaa>Aaa p.E308K NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 308 EGF-like 4; calcium-binding (Potential). cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ATCTCACATTCATTGATATCT 0.458000 14 70 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44949017 44949017 + Nonsense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chrX:44949017G>A ENST00000377967.4 + 25 3619 c.3578G>A c.(3577-3579)tGg>tAg p.W1193* KDM6A_ENST00000382899.4_Nonsense_Mutation_p.W1200*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.W1114*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.W1148* NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1193 JmjC. histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 ATGGGTTCTTGGTGGCCCAAT 0.353000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 9 1 0 0 1 0 0 ATF7IP 55729 broad.mit.edu 37 12 14633975 14633975 + Nonsense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr12:14633975C>T ENST00000544627.1 + 13 3480 c.3160C>T c.(3160-3162)Cag>Tag p.Q1054* ATF7IP_ENST00000543189.1_Nonsense_Mutation_p.Q1045*|ATF7IP_ENST00000540793.1_Nonsense_Mutation_p.Q1046*|ATF7IP_ENST00000536444.1_Nonsense_Mutation_p.Q1045*|ATF7IP_ENST00000261168.4_Nonsense_Mutation_p.Q1046* Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 1046 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 TCCAGTAACTCAGGTGACCAC 0.453000 37 40 0 0 1 0 0 DUSP6 1848 broad.mit.edu 37 12 89743339 89743339 + Splice_Site SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr12:89743339C>T ENST00000279488.7 - 3 2070 c.e3-1 DUSP6_ENST00000547140.1_Splice_Site|DUSP6_ENST00000547291.1_Splice_Site|DUSP6_ENST00000308385.6_Splice_Site NM_001946.2 NP_001937.2 Q16828 DUS6_HUMAN dual specificity phosphatase 6 dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(5)|lung(8)|skin(2)|urinary_tract(1) 16 CGGGCTTCATCTGTGAACACA 0.418000 14 23 0 0 1 0 0 KRT6C 286887 broad.mit.edu 37 12 52865006 52865006 + Missense_Mutation SNP G G T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr12:52865006G>T ENST00000252250.6 - 5 1034 c.987C>A c.(985-987)gaC>gaA p.D329E NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 329 Linker 12.|Rod. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) TGCTGTCCAGGTCCAGGTTGC 0.562000 72 106 1.17611e-34 1.25748e-34 1 1 0 NMU 10874 broad.mit.edu 37 4 56475309 56475309 + Missense_Mutation SNP A A G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr4:56475309A>G ENST00000264218.3 - 4 362 c.257T>C c.(256-258)aTg>aCg p.M86T NMU_ENST00000507338.1_Missense_Mutation_p.M86T|NMU_ENST00000515325.1_5'UTR|NMU_ENST00000505262.1_Missense_Mutation_p.M86T|NMU_ENST00000511469.1_Missense_Mutation_p.M70T NM_006681.2 NP_006672.1 P48645 NMU_HUMAN neuromedin U 86 neuropeptide signaling pathway extracellular region lung(3)|ovary(1)|urinary_tract(1) 5 Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.103) LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559) LUSC - Lung squamous cell carcinoma(721;0.0115) TAGCATTCCCATAATCATAAA 0.358000 41 24 0 0 1 0 0 TRIB2 28951 broad.mit.edu 37 2 12880633 12880633 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:12880633G>A ENST00000155926.4 + 3 2164 c.745G>A c.(745-747)Gtg>Atg p.V249M TRIB2_ENST00000381465.2_Missense_Mutation_p.V113M NM_021643.3 NP_067675.1 Q92519 TRIB2_HUMAN tribbles pseudokinase 2 249 Protein kinase. negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CACCATGTTGGTGGGGCGGTA 0.582000 32 22 0 0 1 0 0 NAV1 89796 broad.mit.edu 37 1 201749603 201749603 + Silent SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:201749603C>G ENST00000367296.4 + 4 1701 c.1281C>G c.(1279-1281)ctC>ctG p.L427L NAV1_ENST00000367302.1_Silent_p.L440L|NAV1_ENST00000295624.6_Silent_p.L427L|NAV1_ENST00000367297.4_Silent_p.L427L|NAV1_ENST00000367295.1_Silent_p.L36L|NAV1_ENST00000367300.3_Silent_p.L427L|IPO9-AS1_ENST00000413035.1_RNA NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 427 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 CAGACAATCTCAGTTCAGAAG 0.488000 32 82 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125261952 125261952 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:125261952C>T ENST00000431078.1 + 8 1507 c.1143C>T c.(1141-1143)ccC>ccT p.P381P NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 381 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TGCTGCTGCCCGGCACCCCCC 0.512000 42 25 0 0 1 0 0 TNFRSF8 943 broad.mit.edu 37 1 12202457 12202457 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:12202457G>C ENST00000263932.2 + 15 1879 c.1657G>C c.(1657-1659)Gag>Cag p.E553Q TNFRSF8_ENST00000479933.2_3'UTR|TNFRSF8_ENST00000417814.2_Missense_Mutation_p.E441Q|TNFRSF8_ENST00000413146.2_Missense_Mutation_p.E90Q NM_001243.3|NM_001281430.1 NP_001234.2|NP_001268359.1 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, member 8 553 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) GGAGGAGCTGGAGGCGGACCA 0.652000 13 31 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86087957 86087957 + Silent SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr14:86087957C>G ENST00000330753.4 + 2 866 c.99C>G c.(97-99)ctC>ctG p.L33L FLRT2_ENST00000554746.1_Silent_p.L33L NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 33 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TGTCCAAACTCCTGGCCTGCC 0.547000 53 50 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41573889 41573889 + Silent SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr22:41573889C>G ENST00000263253.7 + 31 7393 c.6174C>G c.(6172-6174)ctC>ctG p.L2058L RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 2058 Interaction with HTLV-1 Tax.|Interaction with NCOA2. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 TGCGGACTCTCAGGTCTCCCA 0.552000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 52 24 0 0 1 0 0 HSP90B1 7184 broad.mit.edu 37 12 104341191 104341191 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr12:104341191G>A ENST00000299767.5 + 17 2547 c.2365G>A c.(2365-2367)Gaa>Aaa p.E789K NM_003299.2 NP_003290.1 P14625 ENPL_HUMAN heat shock protein 90kDa beta (Grp94), member 1 789 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4) 29 Rifabutin(DB00615) aacagatgaagaagaagaaAC 0.423000 14 9 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41572404 41572404 + Nonsense_Mutation SNP C C T rs139310551 TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr22:41572404C>T ENST00000263253.7 + 30 6152 c.4933C>T c.(4933-4935)Cga>Tga p.R1645* RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1645 Binding region for E1A adenovirus. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding p.R1645R(1) NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CTCTTCACTCCGAAGAGCCCA 0.557000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 34 13 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41573079 41573079 + Silent SNP C C G rs143551315 byFrequency TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr22:41573079C>G ENST00000263253.7 + 31 6583 c.5364C>G c.(5362-5364)ctC>ctG p.L1788L RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1788 Binding region for E1A adenovirus. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 TCATTGCCCTCTGCTGCTACC 0.572000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 54 23 0 0 1 0 0 KCTD19 146212 broad.mit.edu 37 16 67331452 67331452 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr16:67331452C>T ENST00000304372.5 - 7 1156 c.1101G>A c.(1099-1101)ttG>ttA p.L367L NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 367 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) GATGAGTCTTCAAAGCAACTT 0.493000 17 30 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10073543 10073543 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:10073543G>A ENST00000264828.3 - 65 4888 c.4803C>T c.(4801-4803)tcC>tcT p.S1601S NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1601 Fibrillar collagen NC1. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GCTTTTCCTTGGACCAGGAGG 0.532000 9 14 0 0 1 0 0 CLIC5 53405 broad.mit.edu 37 6 45922939 45922939 + Nonsense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr6:45922939G>A ENST00000185206.6 - 2 735 c.583C>T c.(583-585)Cag>Tag p.Q195* CLIC5_ENST00000339561.6_Nonsense_Mutation_p.Q36*|CLIC5_ENST00000544153.1_Nonsense_Mutation_p.Q36* NM_001114086.1 NP_001107558.1 Q9NZA1 CLIC5_HUMAN chloride intracellular channel 5 195 female pregnancy actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center protein binding|voltage-gated chloride channel activity endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 13 AAGAGGCGCTGAGAGAAAGGA 0.478000 15 11 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79284109 79284109 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:79284109C>G ENST00000419573.3 - 22 3377 c.3103G>C c.(3103-3105)Gaa>Caa p.E1035Q RASGRF1_ENST00000394745.3_Missense_Mutation_p.E251Q|RASGRF1_ENST00000558480.2_Missense_Mutation_p.E1019Q|RASGRF1_ENST00000560334.1_5'UTR NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 1037 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GAGTGGTTTTCAAAGGGCTCA 0.552000 13 38 0 0 1 0 0 OPA1 4976 broad.mit.edu 37 3 193384092 193384092 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr3:193384092G>C ENST00000361510.2 + 28 3020 c.2786G>C c.(2785-2787)tGc>tCc p.C929S OPA1_ENST00000361828.2_Missense_Mutation_p.C892S|OPA1_ENST00000361715.2_Missense_Mutation_p.C893S|OPA1_ENST00000361908.3_Missense_Mutation_p.C911S|OPA1_ENST00000392438.3_Missense_Mutation_p.C874S|OPA1_ENST00000361150.2_Missense_Mutation_p.C875S NM_130837.2 NP_570850.2 O60313 OPA1_HUMAN optic atrophy 1 (autosomal dominant) 874 apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) CAGTTGGAATGCAATGATGTG 0.358000 21 56 0 0 1 0 0 LAMC2 3918 broad.mit.edu 37 1 183209259 183209259 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:183209259G>C ENST00000264144.4 + 21 3219 c.3154G>C c.(3154-3156)Gag>Cag p.E1052Q LAMC2_ENST00000461729.1_3'UTR|LAMC2_ENST00000493293.1_Missense_Mutation_p.E1052Q NM_005562.2 NP_005553.2 Q13753 LAMC2_HUMAN laminin, gamma 2 1052 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 TCTGAAGAGTGAGATGAGGGA 0.507000 19 74 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11136115 11136115 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:11136115G>C ENST00000358026.2 + 22 3383 c.3099G>C c.(3097-3099)aaG>aaC p.K1033N SMARCA4_ENST00000589677.1_Missense_Mutation_p.K1033N|SMARCA4_ENST00000429416.3_Missense_Mutation_p.K1033N|SMARCA4_ENST00000413806.3_Missense_Mutation_p.K1033N|SMARCA4_ENST00000541122.2_Missense_Mutation_p.K1033N|SMARCA4_ENST00000450717.3_Missense_Mutation_p.K1033N|SMARCA4_ENST00000444061.3_Missense_Mutation_p.K1033N|SMARCA4_ENST00000344626.4_Missense_Mutation_p.K1033N|SMARCA4_ENST00000590574.1_Missense_Mutation_p.K1033N NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1033 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) GCGGCACCAAGACCCTGATGA 0.632000 """F, N, Mis""" NSCLC 29 118 0 0 1 0 0 PTPRM 5797 broad.mit.edu 37 18 8088834 8088834 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr18:8088834G>C ENST00000332175.8 + 11 2878 c.1841G>C c.(1840-1842)aGa>aCa p.R614T PTPRM_ENST00000400053.4_Missense_Mutation_p.R552T|PTPRM_ENST00000444013.1_Missense_Mutation_p.R401T|PTPRM_ENST00000400060.4_Missense_Mutation_p.R614T|PTPRM_ENST00000580170.1_Missense_Mutation_p.R614T|PTPRM_ENST00000578571.1_3'UTR NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 614 Fibronectin type-III 4. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) GCCCACAGCAGAGGAGCACCT 0.458000 38 15 0 0 1 0 0 FNDC3A 22862 broad.mit.edu 37 13 49762735 49762735 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr13:49762735G>A ENST00000492622.2 + 17 2215 c.1910G>A c.(1909-1911)cGa>cAa p.R637Q FNDC3A_ENST00000541916.1_Missense_Mutation_p.R637Q|FNDC3A_ENST00000398316.3_Missense_Mutation_p.R581Q NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 637 Fibronectin type-III 4. Golgi membrane|integral to membrane endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) TATCGTTTACGAGTTTACTGC 0.413000 24 157 0 0 1 0 0 SOX1 6656 broad.mit.edu 37 13 112722161 112722161 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr13:112722161C>T ENST00000330949.1 + 1 249 c.189C>T c.(187-189)cgC>cgT p.R63R NM_005986.2 NP_005977.2 O00570 SOX1_HUMAN SRY (sex determining region Y)-box 1 63 chromatin organization nucleus core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4) 4 all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231) OV - Ovarian serous cystadenocarcinoma(48;0.132) TGTGGTCCCGCGGGCAGCGGC 0.716000 19 32 0 0 1 0 0 GRINA 2907 broad.mit.edu 37 8 145066426 145066426 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr8:145066426C>T ENST00000313269.5 + 5 985 c.707C>T c.(706-708)gCc>gTc p.A236V GRINA_ENST00000395068.4_Missense_Mutation_p.A236V NM_000837.1 NP_000828.1 Q7Z429 GRINA_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) 236 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1) 9 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GTCCTGACCGCCAGCCTGTCG 0.627000 16 112 0 0 1 0 0 TCN1 6947 broad.mit.edu 37 11 59630175 59630175 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr11:59630175C>G ENST00000257264.3 - 3 384 c.280G>C c.(280-282)Gag>Cag p.E94Q TCN1_ENST00000532419.1_5'UTR NM_001062.3 NP_001053.2 P20061 TCO1_HUMAN transcobalamin I (vitamin B12 binding protein, R binder family) 94 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAGGCAAGCTCTCCCGAGCTT 0.383000 15 26 0 0 1 0 0 SLU7 10569 broad.mit.edu 37 5 159831861 159831861 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:159831861C>T ENST00000297151.4 - 14 1806 c.1419G>A c.(1417-1419)gaG>gaA p.E473E NM_006425.4 NP_006416.3 O95391 SLU7_HUMAN SLU7 splicing factor homolog (S. cerevisiae) 473 alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1) 20 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCCCAGTTATCTCATTTATAA 0.348000 11 11 0 0 1 0 0 GPR161 23432 broad.mit.edu 37 1 168066120 168066120 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:168066120G>C ENST00000367838.1 - 5 1038 c.725C>G c.(724-726)tCc>tGc p.S242C GPR161_ENST00000546300.1_Missense_Mutation_p.S128C|GPR161_ENST00000367836.1_Missense_Mutation_p.S110C|GPR161_ENST00000539777.1_Missense_Mutation_p.S164C|GPR161_ENST00000271357.5_Missense_Mutation_p.S242C|GPR161_ENST00000367835.1_Missense_Mutation_p.S242C|GPR161_ENST00000361697.2_Missense_Mutation_p.S242C|GPR161_ENST00000537209.1_Missense_Mutation_p.S262C NM_001267611.1|NM_153832.2 NP_001254540.1|NP_722561.1 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 242 multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 all_hematologic(923;0.215) GGAGGTGCTGGAGTTCTTCCT 0.602000 89 106 0 0 1 0 0 ZNF425 155054 broad.mit.edu 37 7 148801778 148801778 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:148801778G>A ENST00000378061.2 - 4 1317 c.1185C>T c.(1183-1185)ttC>ttT p.F395F NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 395 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TCTTGTAGATGAATTTCCTGC 0.532000 55 92 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86088862 86088862 + Missense_Mutation SNP G G T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr14:86088862G>T ENST00000330753.4 + 2 1771 c.1004G>T c.(1003-1005)cGg>cTg p.R335L FLRT2_ENST00000554746.1_Missense_Mutation_p.R335L NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 335 LRRCT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) CTCAACGTGCGGGGTTTCATG 0.507000 87 93 4.44732e-65 4.83096e-65 1 1 0 TNPO1 3842 broad.mit.edu 37 5 72189254 72189254 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:72189254G>A ENST00000337273.5 + 17 2373 c.1947G>A c.(1945-1947)atG>atA p.M649I TNPO1_ENST00000454282.1_Missense_Mutation_p.M599I|TNPO1_ENST00000506351.2_Missense_Mutation_p.M641I|TNPO1_ENST00000523768.1_Missense_Mutation_p.M599I NM_002270.3 NP_002261.3 Q92973 TNPO1_HUMAN transportin 1 649 interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation cytosol|nucleus nuclear localization sequence binding|protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 Lung NSC(167;0.0053)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;6.14e-54) AAGATTTTATGATAGTGGCTC 0.378000 4 25 0 0 1 0 0 NAV1 89796 broad.mit.edu 37 1 201749677 201749677 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:201749677C>T ENST00000367296.4 + 4 1775 c.1355C>T c.(1354-1356)tCa>tTa p.S452L NAV1_ENST00000367302.1_Missense_Mutation_p.S465L|NAV1_ENST00000295624.6_Missense_Mutation_p.S452L|NAV1_ENST00000367297.4_Missense_Mutation_p.S452L|NAV1_ENST00000367295.1_Missense_Mutation_p.S61L|NAV1_ENST00000367300.3_Missense_Mutation_p.S452L|IPO9-AS1_ENST00000413035.1_RNA NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 452 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 CGCAGGAACTCAACAATAGTG 0.498000 22 74 0 0 1 0 0 DTX2 113878 broad.mit.edu 37 7 76112191 76112191 + Missense_Mutation SNP G G T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:76112191G>T ENST00000324432.5 + 5 1145 c.635G>T c.(634-636)gGc>gTc p.G212V DTX2_ENST00000446820.2_Missense_Mutation_p.G212V|DTX2_ENST00000307569.8_Missense_Mutation_p.G212V|DTX2_ENST00000413936.2_Missense_Mutation_p.G212V|DTX2_ENST00000446600.1_Missense_Mutation_p.G121V|DTX2_ENST00000430490.2_Missense_Mutation_p.G212V NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 212 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 CCCGTGTCAGGCCGCTACCGC 0.662000 45 444 1.00246e-47 1.0786e-47 1 1 0 SPTB 6710 broad.mit.edu 37 14 65260362 65260362 + Silent SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr14:65260362G>C ENST00000389722.3 - 13 2072 c.2019C>G c.(2017-2019)ctC>ctG p.L673L SPTB_ENST00000556626.1_Silent_p.L673L|SPTB_ENST00000389720.3_Silent_p.L673L|SPTB_ENST00000542895.1_Silent_p.L673L|SPTB_ENST00000389721.5_Silent_p.L673L NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 673 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GCTGTAAGATGAGCACACTGG 0.547000 11 22 0 0 1 0 0 ALAS1 211 broad.mit.edu 37 3 52245397 52245397 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr3:52245397C>G ENST00000394965.2 + 10 1789 c.1429C>G c.(1429-1431)Ctg>Gtg p.L477V ALAS1_ENST00000310271.2_Missense_Mutation_p.L477V|ALAS1_ENST00000469224.1_Missense_Mutation_p.L477V|ALAS1_ENST00000484952.1_Missense_Mutation_p.L477V NM_000688.5 NP_000679.1 P13196 HEM1_HUMAN aminolevulinate, delta-, synthase 1 477 heme biosynthetic process mitochondrial matrix 5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CACCACCTCTCTGCCACCCAT 0.592000 20 9 0 0 1 0 0 NSUN6 221078 broad.mit.edu 37 10 18905124 18905124 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr10:18905124G>A ENST00000377304.4 - 4 828 c.410C>T c.(409-411)tCa>tTa p.S137L NM_182543.2 NP_872349.1 Q8TEA1 NSUN6_HUMAN NOP2/Sun domain family, member 6 137 PUA. methyltransferase activity|RNA binding endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 TTGTGATGCTGACACAATTCC 0.343000 39 10 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53620499 53620499 + Nonsense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chrX:53620499G>C ENST00000342160.3 - 31 4023 c.3566C>G c.(3565-3567)tCa>tGa p.S1189* HUWE1_ENST00000218328.8_Nonsense_Mutation_p.S1189*|HUWE1_ENST00000262854.6_Nonsense_Mutation_p.S1189* Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 1189 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 AGGCAAGTCTGAGTGTTCCAA 0.453000 18 25 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183245337 183245337 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr4:183245337C>T ENST00000511685.1 + 2 287 c.164C>T c.(163-165)tCg>tTg p.S55L TENM3_ENST00000406950.2_Missense_Mutation_p.S55L teneurin transmembrane protein 3 CATGATTCCTCGCGGCTGCTT 0.483000 20 57 0 0 1 0 0 MAP3K13 9175 broad.mit.edu 37 3 185155308 185155308 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr3:185155308C>T ENST00000265026.3 + 3 883 c.549C>T c.(547-549)ttC>ttT p.F183F MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000535426.1_Silent_p.F39F|MAP3K13_ENST00000443863.1_Silent_p.F39F|MAP3K13_ENST00000424227.1_Silent_p.F183F NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 183 Protein kinase. activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GAGCGGTCTTCTTGGGCAAGT 0.498000 49 89 0 0 1 0 0 SNX29P2 440352 broad.mit.edu 37 16 29367202 29367202 + RNA SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr16:29367202G>A ENST00000398878.3 + 0 1028 SNX29P2_ENST00000507381.1_RNA GACGTGGGCCGGGGCCGCACC 0.657000 22 68 0 0 1 0 0 KIAA1614 57710 broad.mit.edu 37 1 180904553 180904553 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:180904553G>A ENST00000367588.4 + 5 1563 c.1508G>A c.(1507-1509)cGg>cAg p.R503Q KIAA1614_ENST00000367587.1_Missense_Mutation_p.R124Q NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 503 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 GGGGCTCCCCGGCTCCGGGAC 0.741000 4 23 0 0 1 0 0 DDR2 4921 broad.mit.edu 37 1 162750019 162750019 + Missense_Mutation SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:162750019C>A ENST00000367922.3 + 19 2989 c.2551C>A c.(2551-2553)Caa>Aaa p.Q851K DDR2_ENST00000367921.3_Missense_Mutation_p.Q851K NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) TCTGCTCCTTCAACAAGGCGA 0.527000 12 93 2.68362e-12 2.82486e-12 1 1 0 PLEKHO2 80301 broad.mit.edu 37 15 65157595 65157595 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:65157595G>C ENST00000323544.4 + 6 1109 c.981G>C c.(979-981)gaG>gaC p.E327D AC069368.3_ENST00000437723.1_Intron NM_001195059.1|NM_025201.4 NP_001181988.1|NP_079477.2 Q8TD55 PKHO2_HUMAN pleckstrin homology domain containing, family O member 2 327 Pro-rich. NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 CCATGGGTGAGATGCAGGCTT 0.597000 8 21 0 0 1 0 0 JAK3 3718 broad.mit.edu 37 19 17948866 17948866 + Missense_Mutation SNP T T C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:17948866T>C ENST00000458235.1 - 12 1675 c.1576A>G c.(1576-1578)Aac>Gac p.N526D JAK3_ENST00000527670.1_Missense_Mutation_p.N526D|JAK3_ENST00000534444.1_Missense_Mutation_p.N526D NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 526 Protein kinase 1. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 TGGCCCAGGTTCTCATGCTGA 0.587000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 18 44 0 0 1 0 0 BBX 56987 broad.mit.edu 37 3 107520009 107520009 + Missense_Mutation SNP A A G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr3:107520009A>G ENST00000416476.2 + 16 1830 c.1610A>G c.(1609-1611)aAt>aGt p.N537S BBX_ENST00000325805.8_Silent_p.K873K|BBX_ENST00000415149.2_Silent_p.K843K|BBX_ENST00000406780.1_Silent_p.K843K|BBX_ENST00000402543.1_Silent_p.K823K Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 0 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) GCAATGACAAATGCTCACACA 0.512000 43 32 0 0 1 0 0 KBTBD7 84078 broad.mit.edu 37 13 41767359 41767359 + Missense_Mutation SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr13:41767359C>A ENST00000379483.3 - 1 1343 c.1035G>T c.(1033-1035)atG>atT p.M345I NM_032138.4 NP_115514.2 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 345 protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) AGAAGATCACCATCTCCTTGG 0.507000 11 13 5.03518e-11 5.26758e-11 1 1 0 URGCP 55665 broad.mit.edu 37 7 43916935 43916935 + Silent SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:43916935G>C ENST00000336086.6 - 4 4234 c.1998C>G c.(1996-1998)ctC>ctG p.L666L URGCP_ENST00000497914.1_5'UTR|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Silent_p.L666L|URGCP_ENST00000443736.1_Silent_p.L666L|URGCP_ENST00000402306.3_Silent_p.L700L|URGCP_ENST00000453200.1_Silent_p.L709L|URGCP_ENST00000447717.3_Silent_p.L666L Q8TCY9 URGCP_HUMAN upregulator of cell proliferation 709 cell cycle centrosome|nucleus GTP binding breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ACATGGTGTTGAGGAGTGTGG 0.627000 31 123 0 0 1 0 0 PCDH1 5097 broad.mit.edu 37 5 141233836 141233836 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:141233836C>T ENST00000287008.3 - 5 3632 c.3485G>A c.(3484-3486)gGa>gAa p.G1162E PCDH1_ENST00000503492.1_3'UTR NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 0 cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) CTCCTGCCCTCCTCGGTCCTG 0.677000 6 12 0 0 1 0 0 TNFRSF10A 8797 broad.mit.edu 37 8 23082521 23082521 + Silent SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr8:23082521C>G ENST00000221132.3 - 1 118 c.54G>C c.(52-54)ccG>ccC p.P18P RP11-1149O23.3_ENST00000517774.1_RNA NM_003844.3 NP_003835.3 O00220 TR10A_HUMAN tumor necrosis factor receptor superfamily, member 10a 18 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1) 16 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) TCCCGGGATTCGGAGTCACTG 0.632000 14 16 0 0 1 0 0 APLP1 333 broad.mit.edu 37 19 36370075 36370075 + Missense_Mutation SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:36370075C>A ENST00000221891.4 + 16 2005 c.1813C>A c.(1813-1815)Cgc>Agc p.R605S APLP1_ENST00000586861.1_Missense_Mutation_p.R598S|APLP1_ENST00000537454.2_Missense_Mutation_p.R565S NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 604 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCTGCTCCTGCGCAGGAAGAA 0.657000 23 107 1.85244e-09 1.91438e-09 1 1 0 CDH7 1005 broad.mit.edu 37 18 63511079 63511079 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr18:63511079C>T ENST00000536984.2 + 7 1707 c.1013C>T c.(1012-1014)aCg>aTg p.T338M CDH7_ENST00000397968.2_Missense_Mutation_p.T338M|CDH7_ENST00000323011.3_Missense_Mutation_p.T338M Q9ULB5 CADH7_HUMAN cadherin 7, type 2 338 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) ACAAGTTACACGCTACGGATA 0.418000 11 26 0 0 1 0 0 PTGER2 5732 broad.mit.edu 37 14 52781491 52781491 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr14:52781491G>A ENST00000245457.5 + 1 379 c.225G>A c.(223-225)gtG>gtA p.V75V PTGER2_ENST00000557436.1_Intron NM_000956.3 NP_000947.2 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 75 integral to plasma membrane prostaglandin E receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) CCGAGCTGGTGTTCACCGACC 0.711000 18 60 0 0 1 0 0 RPN1 6184 broad.mit.edu 37 3 128356705 128356705 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr3:128356705G>A ENST00000296255.3 - 3 618 c.570C>T c.(568-570)aaC>aaT p.N190N RPN1_ENST00000497289.1_Silent_p.N18N NM_002950.3 NP_002941.1 P04843 RPN1_HUMAN ribophorin I 190 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2) 13 GBM - Glioblastoma multiforme(114;0.189) AGCGCGTGGGGTTCCCCAGCT 0.532000 T EVI1 AML 23 83 0 0 1 0 0 NAA15 80155 broad.mit.edu 37 4 140299981 140299981 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr4:140299981G>A ENST00000296543.5 + 17 2451 c.2128G>A c.(2128-2130)Gag>Aag p.E710K NAA15_ENST00000398947.1_Missense_Mutation_p.E710K NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit 710 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 CTGGCTTCATGAGTGTATGAT 0.328000 20 14 0 0 1 0 0 STMN2 11075 broad.mit.edu 37 8 80549051 80549051 + Missense_Mutation SNP A A G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr8:80549051A>G ENST00000220876.7 + 2 416 c.34A>G c.(34-36)Atg>Gtg p.M12V STMN2_ENST00000518491.1_Start_Codon_SNP_p.M1V|STMN2_ENST00000518111.1_Missense_Mutation_p.M12V NM_001199214.1|NM_007029.3 NP_001186143.1|NP_008960.2 Q93045 STMN2_HUMAN stathmin-like 2 12 Membrane attachment (Potential). intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 all_lung(9;8.34e-05) Epithelial(68;0.0229)|all cancers(69;0.0874) CAAGGAAAAAATGAAGGAGCT 0.358000 11 33 0 0 1 0 0 OR13F1 138805 broad.mit.edu 37 9 107267429 107267429 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr9:107267429G>C ENST00000334726.2 + 1 975 c.886G>C c.(886-888)Gag>Cag p.E296Q NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 ACGGAACAAAGAGGTGAAAGT 0.373000 20 4 0 0 1 0 0 FAM207A 85395 broad.mit.edu 37 21 46363637 46363637 + Silent SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr21:46363637C>A ENST00000291634.6 + 2 216 c.168C>A c.(166-168)acC>acA p.T56T FAM207A_ENST00000397826.3_Silent_p.T56T NM_058190.2 NP_478070.1 Q9NSI2 CU070_HUMAN family with sequence similarity 207, member A 56 TTGCCAGGACCAAGATAGACC 0.552000 29 69 1.04352e-10 1.08833e-10 1 1 0 HAL 3034 broad.mit.edu 37 12 96368046 96368046 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr12:96368046C>T ENST00000261208.3 - 21 2306 c.1938G>A c.(1936-1938)aaG>aaA p.K646K HAL_ENST00000541929.1_Silent_p.K438K|HAL_ENST00000538703.1_3'UTR NM_002108.3 NP_002099.1 P42357 HUTH_HUMAN histidine ammonia-lyase 646 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) TGGTGGATTTCTTGTGCAGAA 0.438000 20 61 0 0 1 0 0 BBS4 585 broad.mit.edu 37 15 73007669 73007669 + Silent SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:73007669C>G ENST00000268057.4 + 5 299 c.258C>G c.(256-258)tcC>tcG p.S86S BBS4_ENST00000395205.2_Silent_p.S94S|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000539603.1_Silent_p.S74S|BBS4_ENST00000542334.1_5'UTR NM_033028.4 NP_149017.2 Q96RK4 BBS4_HUMAN Bardet-Biedl syndrome 4 86 adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1) 19 TCCAAGAATCCCTAGAACTCT 0.443000 Bardet-Biedl syndrome 13 26 0 0 1 0 0 CASC5 57082 broad.mit.edu 37 15 40913375 40913375 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:40913375G>A ENST00000346991.5 + 11 1381 c.991G>A c.(991-993)Gaa>Aaa p.E331K CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.E305K Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 331 Interaction with BUB1 and BUB1B. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) CAACTCACGGGAATCTAAAGG 0.378000 10 26 0 0 1 0 0 KCNK13 56659 broad.mit.edu 37 14 90650969 90650969 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr14:90650969C>G ENST00000282146.4 + 2 1290 c.849C>G c.(847-849)atC>atG p.I283M NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 283 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) CTATCCTCATCAAACAGTCCT 0.517000 26 94 0 0 1 0 0 CUTC 51076 broad.mit.edu 37 10 101503808 101503808 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr10:101503808C>G ENST00000370476.5 + 5 547 c.418C>G c.(418-420)Ctg>Gtg p.L140V NM_015960.2 NP_057044.2 Q9NTM9 CUTC_HUMAN cutC copper transporter 140 copper ion homeostasis|copper ion transport|protein tetramerization cytoplasm|nucleus copper ion binding p.L140V(1) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Colorectal(252;0.234) Epithelial(162;3e-10)|all cancers(201;2.37e-08) TTGCCGCCCTCTGCCAGTCAC 0.348000 23 9 0 0 1 0 0 NAALAD2 10003 broad.mit.edu 37 11 89924900 89924900 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr11:89924900G>A ENST00000534061.1 + 19 2438 c.2208G>A c.(2206-2208)ctG>ctA p.L736L NAALAD2_ENST00000375944.3_3'UTR|NAALAD2_ENST00000321955.4_Silent_p.L703L NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 736 proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) CAGGAACTCTGAAAGAAGTAT 0.368000 6 17 0 0 1 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 26 5 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218700908 218700908 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:218700908C>T ENST00000171887.4 - 18 3111 c.2659G>A c.(2659-2661)Gca>Aca p.A887T TNS1_ENST00000430930.1_Missense_Mutation_p.A887T|TNS1_ENST00000419504.1_Missense_Mutation_p.A887T NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 887 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGGGGCTCTGCAGGCTGCTTC 0.582000 6 51 0 0 1 0 0 PRRT2 112476 broad.mit.edu 37 16 29824403 29824403 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr16:29824403G>C ENST00000300797.6 + 2 202 c.28G>C c.(28-30)Gag>Cag p.E10Q AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000358758.7_Missense_Mutation_p.E10Q|PRRT2_ENST00000567659.1_Missense_Mutation_p.E10Q|PRRT2_ENST00000567551.1_3'UTR Q7Z6L0 PRRT2_HUMAN proline-rich transmembrane protein 2 10 response to biotic stimulus integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 8 TGAGATCTCTGAGATGAAGGG 0.587000 24 78 0 0 1 0 0 FASTKD2 22868 broad.mit.edu 37 2 207634869 207634869 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:207634869G>C ENST00000236980.6 + 3 1180 c.832G>C c.(832-834)Gag>Cag p.E278Q FASTKD2_ENST00000402774.3_Missense_Mutation_p.E278Q|FASTKD2_ENST00000403094.3_Missense_Mutation_p.E278Q NM_014929.3 NP_055744.2 Q9NYY8 FAKD2_HUMAN FAST kinase domains 2 278 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2) 21 LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138) AACTGTTTTAGAGGCAATGGA 0.373000 8 48 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86088062 86088062 + Silent SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr14:86088062C>G ENST00000330753.4 + 2 971 c.204C>G c.(202-204)ctC>ctG p.L68L FLRT2_ENST00000554746.1_Silent_p.L68L NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 68 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TAACTGTACTCTACCTCCACA 0.517000 66 49 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143039166 143039166 + Missense_Mutation SNP C C G rs143825889 TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:143039166C>G ENST00000343257.2 + 15 1814 c.1727C>G c.(1726-1728)tCt>tGt p.S576C NM_000083.2 NP_000074 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 576 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CTGCAGCCCTCTCTCTATGAC 0.527000 36 47 0 0 1 0 0 GIT1 28964 broad.mit.edu 37 17 27909075 27909075 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr17:27909075C>T ENST00000225394.3 - 5 741 c.493G>A c.(493-495)Gag>Aag p.E165K GIT1_ENST00000394869.3_Missense_Mutation_p.E165K|GIT1_ENST00000581348.1_Missense_Mutation_p.E165K|GIT1_ENST00000579937.1_Missense_Mutation_p.E165K|RP11-68I3.2_ENST00000581474.1_RNA NM_014030.3 NP_054749.2 Q9Y2X7 GIT1_HUMAN G protein-coupled receptor kinase interacting ArfGAP 1 165 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|focal adhesion ARF GTPase activator activity|protein binding|zinc ion binding large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069) GTGCCCTTCTCTGGGTGGAAG 0.617000 36 29 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152462392 152462392 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr6:152462392C>G ENST00000367255.5 - 139 25793 c.25192G>C c.(25192-25194)Gag>Cag p.E8398Q SYNE1_ENST00000539504.1_Missense_Mutation_p.E553Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E8010Q|SYNE1_ENST00000356820.4_Missense_Mutation_p.E2922Q|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.E576Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E8398Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E8350Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E8350Q NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8398 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGGCTCTCCTCTTCCTCCTTC 0.488000 HNSCC(10;0.0054) 58 16 0 0 1 0 0 LBR 3930 broad.mit.edu 37 1 225598067 225598067 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:225598067C>T ENST00000338179.2 - 10 1365 c.1240G>A c.(1240-1242)Gct>Act p.A414T LBR_ENST00000272163.4_Missense_Mutation_p.A414T NM_194442.2 NP_919424.1 Q14739 LBR_HUMAN lamin B receptor 414 cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity p.A414T(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) GATGGAACAGCGCGGTCCTGT 0.433000 16 69 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27059204 27059204 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:27059204C>T ENST00000324856.7 + 4 2212 c.1841C>T c.(1840-1842)tCa>tTa p.S614L ARID1A_ENST00000457599.2_Missense_Mutation_p.S614L|ARID1A_ENST00000374152.2_Missense_Mutation_p.S231L NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 614 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.S614L(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CAGGCATCCTCAGCCCCCTCA 0.478000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 17 30 0 0 1 0 0 FTO 79068 broad.mit.edu 37 16 53967927 53967927 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr16:53967927G>C ENST00000471389.1 + 8 1492 c.1270G>C c.(1270-1272)Gag>Cag p.E424Q FTO_ENST00000394647.3_Missense_Mutation_p.E128Q|FTO_ENST00000463855.1_Missense_Mutation_p.E46Q|FTO_ENST00000431610.2_Missense_Mutation_p.E25Q|FTO_ENST00000460382.1_Missense_Mutation_p.E25Q NM_001080432.2 NP_001073901.1 Q9C0B1 FTO_HUMAN fat mass and obesity associated 424 DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair nucleus DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 AGTTAAAAGAGAGGGGCTCCC 0.418000 12 25 0 0 1 0 0 DBP 1628 broad.mit.edu 37 19 49134232 49134232 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:49134232C>G ENST00000222122.5 - 4 1283 c.840G>C c.(838-840)gaG>gaC p.E280D DBP_ENST00000593500.1_Missense_Mutation_p.E78D|DBP_ENST00000599385.1_Missense_Mutation_p.E78D NM_001352.3 NP_001343.2 Q10586 DBP_HUMAN D site of albumin promoter (albumin D-box) binding protein 280 regulation of transcription from RNA polymerase II promoter|rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155) ATATCTGGTTCTCCTTGAGCC 0.652000 24 33 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50733744 50733744 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:50733744C>G ENST00000404971.1 - 14 3845 c.2506G>C c.(2506-2508)Gag>Cag p.E836Q NRXN1_ENST00000402717.3_Missense_Mutation_p.E788Q|NRXN1_ENST00000401669.2_Missense_Mutation_p.E796Q|NRXN1_ENST00000406859.3_Missense_Mutation_p.E796Q|NRXN1_ENST00000405472.3_Missense_Mutation_p.E788Q|NRXN1_ENST00000406316.2_Missense_Mutation_p.E796Q|NRXN1_ENST00000331040.5_5'UTR NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 796 Laminin G-like 4. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity p.E837*(1)|p.E836*(1)|p.E796*(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) AAAAGAGTCTCGGGACCTTTG 0.448000 9 19 0 0 1 0 0 LMNB2 84823 broad.mit.edu 37 19 2438516 2438516 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:2438516C>T ENST00000325327.3 - 3 477 c.415G>A c.(415-417)Gag>Aag p.E139K LMNB2_ENST00000582871.1_Missense_Mutation_p.E119K Q03252 LMNB2_HUMAN lamin B2 119 Coil 1B.|Rod. nuclear inner membrane structural molecule activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCTCGCCCTCCCTCTTCTTG 0.662000 21 13 0 0 1 0 0 CAST 831 broad.mit.edu 37 5 96090429 96090429 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:96090429G>A ENST00000395813.1 + 22 1880 c.1694G>A c.(1693-1695)aGa>aAa p.R565K CAST_ENST00000508579.1_Missense_Mutation_p.R197K|CAST_ENST00000515663.1_Missense_Mutation_p.R205K|CAST_ENST00000509903.1_Missense_Mutation_p.R447K|CAST_ENST00000395812.2_Missense_Mutation_p.R524K|CAST_ENST00000309190.5_Missense_Mutation_p.R460K|CAST_ENST00000510756.1_Missense_Mutation_p.R543K|CAST_ENST00000508608.1_Missense_Mutation_p.R528K|CAST_ENST00000511049.1_Missense_Mutation_p.R468K|CAST_ENST00000338252.3_Missense_Mutation_p.R469K|CAST_ENST00000341926.3_Missense_Mutation_p.R482K|CAST_ENST00000511782.1_Missense_Mutation_p.R468K|CAST_ENST00000504465.1_Missense_Mutation_p.R410K|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000508830.1_Missense_Mutation_p.R565K|CAST_ENST00000359176.4_Missense_Mutation_p.R546K|CAST_ENST00000325674.7_Missense_Mutation_p.R530K NM_001284213.1 NP_001271142.1 P20810 ICAL_HUMAN calpastatin 482 calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 22 all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;6.85e-15) CCTGATTATAGATTAGAAGAG 0.348000 7 30 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41573838 41573838 + Silent SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr22:41573838C>G ENST00000263253.7 + 31 7342 c.6123C>G c.(6121-6123)ctC>ctG p.L2041L RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 2041 Interaction with HTLV-1 Tax.|Interaction with NCOA2. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 TCAGCCCACTCAAACCAGGCA 0.547000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 48 25 0 0 1 0 0 DGKG 1608 broad.mit.edu 37 3 186006603 186006603 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr3:186006603G>A ENST00000265022.3 - 6 979 c.440C>T c.(439-441)cCc>cTc p.P147L DGKG_ENST00000544847.1_Missense_Mutation_p.P147L|DGKG_ENST00000382164.4_Missense_Mutation_p.P147L|DGKG_ENST00000344484.4_Missense_Mutation_p.P147L 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 147 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) CCGAGGGACGGGGGGTTCCAG 0.547000 100 310 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47786794 47786794 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr21:47786794G>C ENST00000359568.5 + 15 3012 c.2905G>C c.(2905-2907)Gat>Cat p.D969H PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 969 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GTCCAGCCTTGATTCTTTGGA 0.562000 26 82 0 0 1 0 0 IFI44L 10964 broad.mit.edu 37 1 79107468 79107468 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:79107468G>A ENST00000370751.5 + 9 1512 c.1333G>A c.(1333-1335)Gag>Aag p.E445K IFI44L_ENST00000342282.3_Missense_Mutation_p.E187K|IFI44L_ENST00000476521.1_3'UTR NM_006820.2 NP_006811.2 Q53G44 IF44L_HUMAN interferon-induced protein 44-like cytoplasm endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 22 AGGTGCAATTGAGAGAGCGTT 0.448000 44 121 0 0 1 0 0 HAPLN4 404037 broad.mit.edu 37 19 19369602 19369602 + Missense_Mutation SNP G G T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:19369602G>T ENST00000291481.7 - 4 610 c.547C>A c.(547-549)Cgc>Agc p.R183S AC138430.4_ENST00000586064.2_RNA NM_023002.2 NP_075378.1 Q86UW8 HPLN4_HUMAN hyaluronan and proteoglycan link protein 4 183 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1) 16 Epithelial(12;0.00575) GCGCACGCGCGCTGCGCCTCC 0.706000 11 18 1.02788e-11 1.07864e-11 1 1 0 TMEM248 55069 broad.mit.edu 37 7 66418353 66418353 + Silent SNP G G A rs149604295 TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:66418353G>A ENST00000341567.4 + 6 1176 c.921G>A c.(919-921)gaG>gaA p.E307E NM_017994.4 NP_060464.1 transmembrane protein 248 TTTGTCCCGAGAAGGTGAGCG 0.453000 35 180 0 0 1 0 0 KRT6C 286887 broad.mit.edu 37 12 52865005 52865005 + Missense_Mutation SNP G G T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr12:52865005G>T ENST00000252250.6 - 5 1035 c.988C>A c.(988-990)Ctg>Atg p.L330M NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 330 Linker 12.|Rod. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) ATGCTGTCCAGGTCCAGGTTG 0.562000 75 107 4.21487e-37 4.52068e-37 1 1 0 RASGEF1A 221002 broad.mit.edu 37 10 43696157 43696157 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr10:43696157G>A ENST00000395809.1 - 5 3145 c.639C>T c.(637-639)tgC>tgT p.C213C RASGEF1A_ENST00000395810.1_Silent_p.C213C|RASGEF1A_ENST00000374459.1_Silent_p.C221C|RASGEF1A_ENST00000472864.1_5'UTR Q8N9B8 RGF1A_HUMAN RasGEF domain family, member 1A 213 cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2) 11 CCAGGGGGTCGCAGCACACGC 0.642000 5 54 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76454708 76454708 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr17:76454708C>G ENST00000389840.5 - 62 9998 c.9874G>C c.(9874-9876)Gag>Cag p.E3292Q DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.E3301Q dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TTGATTTTCTCAGCTGTTGCT 0.522000 33 86 0 0 1 0 0 MAP3K1 4214 broad.mit.edu 37 5 56177626 56177626 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:56177626G>A ENST00000399503.3 + 14 2599 c.2599G>A c.(2599-2601)Gaa>Aaa p.E867K NM_005921.1 NP_005912.1 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase 867 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) GGAAATTGCCGAAGCCATCCA 0.478000 4 81 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35549207 35549207 + Missense_Mutation SNP G G C rs148729289 byFrequency TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr17:35549207G>C ENST00000353139.5 - 37 4721 c.4240C>G c.(4240-4242)Ctg>Gtg p.L1414V ACACA_ENST00000360679.3_Missense_Mutation_p.L1319V|ACACA_ENST00000335166.5_Missense_Mutation_p.L1299V|ACACA_ENST00000394406.2_Missense_Mutation_p.L1377V NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1377 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TGGAAAGCCAGAGCAGGCTCC 0.443000 14 29 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 339064 339064 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr9:339064C>T ENST00000432829.2 + 13 1593 c.1277C>T c.(1276-1278)tCa>tTa p.S426L DOCK8_ENST00000453981.1_Missense_Mutation_p.S494L|DOCK8_ENST00000469391.1_Missense_Mutation_p.S426L NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 494 DHR-1. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) TACAAAAGATCATCATCCTTA 0.398000 3 11 0 0 1 0 0 FUBP1 8880 broad.mit.edu 37 1 78428504 78428504 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:78428504G>A ENST00000370767.1 - 14 1382 c.1295C>T c.(1294-1296)aCt>aTt p.T432I FUBP1_ENST00000370768.2_Missense_Mutation_p.T432I|FUBP1_ENST00000436586.2_Missense_Mutation_p.T453I Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 432 KH 4. 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 CTGTTGTGGAGTGCCACGAAT 0.368000 """F, N""" oligodendroglioma 3 30 0 0 1 0 0 GNPTG 84572 broad.mit.edu 37 16 1413046 1413046 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr16:1413046C>T ENST00000204679.4 + 11 915 c.872C>T c.(871-873)tCt>tTt p.S291F NM_032520.4 NP_115909.1 Q9UJJ9 GNPTG_HUMAN N-acetylglucosamine-1-phosphate transferase, gamma subunit 291 extracellular region|Golgi apparatus protein binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 7 Hepatocellular(780;0.0893) AGAGCCAAGTCTCCAGAGCAG 0.622000 11 19 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70530553 70530553 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr14:70530553C>T ENST00000357887.3 - 3 2631 c.1878G>A c.(1876-1878)atG>atA p.M626I SLC8A3_ENST00000528359.1_Missense_Mutation_p.M626I|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000381269.2_Intron|SLC8A3_ENST00000356921.2_Intron|SLC8A3_ENST00000216568.7_Intron|SLC8A3_ENST00000534137.1_Intron|SLC8A3_ENST00000533541.1_Intron NM_033262.3 NP_150287.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 626 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TCTGAAAACTCATATCCACCA 0.428000 32 27 0 0 1 0 0 C8orf76 84933 broad.mit.edu 37 8 124238796 124238796 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr8:124238796C>T ENST00000276704.4 - 5 943 c.892G>A c.(892-894)Gaa>Aaa p.E298K ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.E266K|C8orf76_ENST00000521310.1_5'UTR NM_032847.2 NP_116236.1 Q96K31 CH076_HUMAN chromosome 8 open reading frame 76 298 binding NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4) 17 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) ATTTTATCTTCAATTTCCTGC 0.418000 4 26 0 0 1 0 0 TUBB8 347688 broad.mit.edu 37 10 93872 93872 + Missense_Mutation SNP T T G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr10:93872T>G ENST00000447903.2 - 4 559 c.244A>C c.(244-246)Aag>Cag p.K82Q TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.K154Q Q3ZCM7 TBB8_HUMAN tubulin, beta 8 class VIII 154 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) TCCCGGATCTTACTGAGCAGA 0.602000 15 250 0 0 1 0 0 NAV1 89796 broad.mit.edu 37 1 201749566 201749566 + Missense_Mutation SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:201749566C>A ENST00000367296.4 + 4 1664 c.1244C>A c.(1243-1245)tCc>tAc p.S415Y NAV1_ENST00000367302.1_Missense_Mutation_p.S428Y|NAV1_ENST00000295624.6_Missense_Mutation_p.S415Y|NAV1_ENST00000367297.4_Missense_Mutation_p.S415Y|NAV1_ENST00000367295.1_Missense_Mutation_p.S24Y|NAV1_ENST00000367300.3_Missense_Mutation_p.S415Y|IPO9-AS1_ENST00000413035.1_RNA NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 415 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 GAAAGCAGCTCCATCAGTAGT 0.463000 25 72 4.59853e-10 4.78134e-10 1 1 0 TSG101 7251 broad.mit.edu 37 11 18503374 18503374 + Nonsense_Mutation SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr11:18503374C>A ENST00000536719.1 - 9 1020 c.886G>T c.(886-888)Gaa>Taa p.E296* TSG101_ENST00000357193.3_Nonsense_Mutation_p.E191*|TSG101_ENST00000251968.3_Nonsense_Mutation_p.E296* Q99816 TS101_HUMAN tumor susceptibility 101 296 cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 22 CTGAGTTCTTCATCCTTCTTT 0.358000 10 13 2.17888e-05 2.21802e-05 1 1 0 RASL12 51285 broad.mit.edu 37 15 65360144 65360144 + Silent SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:65360144C>G ENST00000220062.4 - 1 306 c.30G>C c.(28-30)gcG>gcC p.A10A RASL12_ENST00000434605.2_Intron|RASL12_ENST00000421977.3_Silent_p.A10A NM_016563.2 NP_057647.1 Q9NYN1 RASLC_HUMAN RAS-like, family 12 10 small GTPase mediated signal transduction membrane GTP binding|GTPase activity lung(1)|ovary(1)|skin(1)|urinary_tract(1) 4 GCCCGCTGCCCGCGCGGGGTT 0.766000 8 11 0 0 1 0 0 KCNV1 27012 broad.mit.edu 37 8 110984713 110984713 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr8:110984713C>T ENST00000524391.1 - 3 1797 c.765G>A c.(763-765)ggG>ggA p.G255G KCNV1_ENST00000297404.1_Silent_p.G255G Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 255 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) GGACAAACTCCCCGGTGAACC 0.522000 15 67 0 0 1 0 0 SSR2 6746 broad.mit.edu 37 1 155989830 155989830 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:155989830C>T ENST00000295702.4 - 2 200 c.129G>A c.(127-129)caG>caA p.Q43Q SSR2_ENST00000496742.1_Silent_p.Q43Q|SSR2_ENST00000480567.1_Silent_p.Q43Q|SSR2_ENST00000529008.1_Silent_p.Q43Q NM_003145.3 NP_003136.1 P43308 SSRB_HUMAN signal sequence receptor, beta (translocon-associated protein beta) 43 cotranslational protein targeting to membrane endoplasmic reticulum membrane|integral to membrane signal sequence binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1) 10 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) AGATGTTGTACTGCAAGGTCA 0.473000 8 65 0 0 1 0 0 PCDHB1 29930 broad.mit.edu 37 5 140431442 140431442 + Silent SNP T T C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:140431442T>C ENST00000306549.3 + 1 464 c.387T>C c.(385-387)aaT>aaC p.N129N NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 129 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCAATGACAATGCCCCAGTTT 0.542000 11 15 0 0 1 0 0 EEF2K 29904 broad.mit.edu 37 16 22291646 22291646 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr16:22291646G>A ENST00000263026.5 + 17 2491 c.2017G>A c.(2017-2019)Gag>Aag p.E673K NM_013302.3 NP_037434 O00418 EF2K_HUMAN eukaryotic elongation factor-2 kinase 673 insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(48;0.0223) CAGGGAGGCCGAGATGCTGTT 0.637000 28 18 0 0 1 0 0 PLEKHO2 80301 broad.mit.edu 37 15 65157914 65157914 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:65157914G>A ENST00000323544.4 + 6 1428 c.1300G>A c.(1300-1302)Gag>Aag p.E434K AC069368.3_ENST00000437723.1_Intron NM_001195059.1|NM_025201.4 NP_001181988.1|NP_079477.2 Q8TD55 PKHO2_HUMAN pleckstrin homology domain containing, family O member 2 434 NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 GCTGGGCAGTGAGCCGGCCCC 0.602000 28 21 0 0 1 0 0 MSH4 4438 broad.mit.edu 37 1 76280741 76280741 + Missense_Mutation SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:76280741C>A ENST00000263187.3 + 5 839 c.735C>A c.(733-735)ttC>ttA p.F245L NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 245 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 GGAAATACTTCAATGAAACAA 0.323000 Mismatch excision repair (MMR) 8 34 4.68919e-08 4.81669e-08 1 1 0 KCNK2 3776 broad.mit.edu 37 1 215259881 215259881 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:215259881C>G ENST00000444842.2 + 2 367 c.217C>G c.(217-219)Ctg>Gtg p.L73V KCNK2_ENST00000391894.2_Missense_Mutation_p.L58V|KCNK2_ENST00000391895.2_Missense_Mutation_p.L69V NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 73 outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) TGTCCTCTATCTGATCATCGG 0.483000 17 29 0 0 1 0 0 FAM19A4 151647 broad.mit.edu 37 3 68802156 68802156 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr3:68802156G>C ENST00000295569.7 - 4 636 c.144C>G c.(142-144)atC>atG p.I48M NM_001005527.2|NM_182522.4 NP_001005527.1|NP_872328.1 Q96LR4 F19A4_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 48 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2) 10 Lung NSC(201;0.0198) BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904) TCCCTTGCTTGATTTGGTGGT 0.493000 23 10 0 0 1 0 0 SNTB1 6641 broad.mit.edu 37 8 121644785 121644785 + Missense_Mutation SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr8:121644785C>A ENST00000395601.3 - 4 1309 c.895G>T c.(895-897)Gac>Tac p.D299Y SNTB1_ENST00000517992.1_Missense_Mutation_p.D299Y|SNTB1_ENST00000519177.1_5'UTR NM_021021.3 NP_066301.1 Q13884 SNTB1_HUMAN syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) 299 muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6) 24 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) GTCAGCAGGTCATTAACGTTG 0.537000 24 67 3.73988e-18 3.96125e-18 1 1 0 KIRREL 55243 broad.mit.edu 37 1 158059548 158059548 + Silent SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:158059548G>C ENST00000368172.1 + 6 666 c.654G>C c.(652-654)gtG>gtC p.V218V KIRREL_ENST00000392272.2_Silent_p.V301V|KIRREL_ENST00000368173.3_Silent_p.V420V|KIRREL_ENST00000360089.4_Silent_p.V240V|KIRREL_ENST00000359209.6_Silent_p.V404V|KIRREL_ENST00000416935.2_Silent_p.V304V Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 404 integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) AGTATGCTGTGAGGGGTGACG 0.602000 38 211 0 0 1 0 0 STPG1 90529 broad.mit.edu 37 1 24706145 24706145 + Missense_Mutation SNP T T A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:24706145T>A ENST00000374409.1 - 5 714 c.460A>T c.(460-462)Aat>Tat p.N154Y STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000337248.4_Missense_Mutation_p.N154Y|STPG1_ENST00000003583.8_Missense_Mutation_p.N107Y|STPG1_ENST00000440416.1_Missense_Mutation_p.N107Y NM_001199012.1 NP_001185941.1 sperm-tail PG-rich repeat containing 1 GTTCTTACATTGTAATAGTTT 0.373000 11 53 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128312003 128312003 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr6:128312003C>G ENST00000368227.3 - 22 3424 c.3058G>C c.(3058-3060)Gat>Cat p.D1020H PTPRK_ENST00000368213.5_Missense_Mutation_p.D1009H|PTPRK_ENST00000368226.4_Missense_Mutation_p.D1003H|PTPRK_ENST00000368215.3_Missense_Mutation_p.D1002H|PTPRK_ENST00000532331.1_Missense_Mutation_p.D1025H|PTPRK_ENST00000368207.3_Missense_Mutation_p.D1035H|PTPRK_ENST00000368210.3_Missense_Mutation_p.D1021H Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1002 Tyrosine-protein phosphatase 1. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) ACTTCAGTATCATCAGGCCAA 0.348000 12 47 0 0 1 0 0 GNAL 2774 broad.mit.edu 37 18 11868562 11868562 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr18:11868562G>A ENST00000334049.6 + 9 1539 c.931G>A c.(931-933)Gtc>Atc p.V311I GNAL_ENST00000423027.3_Missense_Mutation_p.V234I|GNAL_ENST00000602628.1_Missense_Mutation_p.V27I|GNAL_ENST00000269162.5_Missense_Mutation_p.V234I|GNAL_ENST00000535121.1_Missense_Mutation_p.V234I NM_182978.3 NP_892023.1 P38405 GNAL_HUMAN guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type 234 activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission heterotrimeric G-protein complex adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1) 12 TATCATTTACGTCGCAGCCTG 0.463000 33 79 0 0 1 0 0 OSER1 51526 broad.mit.edu 37 20 42825950 42825950 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr20:42825950C>T ENST00000372970.2 - 6 801 c.621G>A c.(619-621)aaG>aaA p.K207K OSER1_ENST00000255174.2_Silent_p.K207K oxidative stress responsive serine-rich 1 CATGCCATCTCTTACACTGGC 0.488000 23 60 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240255687 240255687 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:240255687C>T ENST00000319653.9 + 1 508 c.278C>T c.(277-279)tCc>tTc p.S93F NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 93 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GCCGGCGGCTCCCGCGAAGAT 0.622000 9 27 0 0 1 0 0 ZSCAN22 342945 broad.mit.edu 37 19 58846394 58846394 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:58846394C>G ENST00000329665.4 + 2 373 c.226C>G c.(226-228)Cag>Gag p.Q76E NM_181846.2 NP_862829.1 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 76 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2) 16 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) GCTGTGCTGTCAGTGGCTGCA 0.657000 11 128 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45389939 45389939 + Splice_Site SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:45389939C>T ENST00000389039.6 - 28 3951 c.3566G>A c.(3565-3567)gGt>gAt p.G1189D DUOX2_ENST00000603300.1_Splice_Site_p.G1189D Q9NRD8 DUOX2_HUMAN dual oxidase 2 1189 Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) ACCTGTCATACCTGGGGGCAG 0.587000 16 55 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 5 96 0 0 1 0 0 KIAA1841 84542 broad.mit.edu 37 2 61333734 61333734 + Missense_Mutation SNP A A G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:61333734A>G ENST00000402291.1 + 14 1789 c.1548A>G c.(1546-1548)atA>atG p.I516M KIAA1841_ENST00000356719.2_Missense_Mutation_p.I516M|KIAA1841_ENST00000453873.1_Missense_Mutation_p.I516M|KIAA1841_ENST00000295031.5_Missense_Mutation_p.I516M NM_001129993.1 NP_001123465.1 Q6NSI8 K1841_HUMAN KIAA1841 516 breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 25 Epithelial(17;0.193) AAAAGGGTATAGAATGTGATG 0.348000 18 45 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78293102 78293102 + Nonsense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr17:78293102C>G ENST00000582970.1 + 17 3157 c.3014C>G c.(3013-3015)tCa>tGa p.S1005* RNF213_ENST00000508628.2_Nonsense_Mutation_p.S1054*|RNF213_ENST00000456466.1_Nonsense_Mutation_p.S1005*|RNF213_ENST00000319921.4_Nonsense_Mutation_p.S1005* NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 1005 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GCCGTGAGCTCAGCCTGCCAG 0.547000 44 32 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28926024 28926024 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr18:28926024G>C ENST00000257192.4 + 14 2175 c.1963G>C c.(1963-1965)Gaa>Caa p.E655Q DSG1_ENST00000462981.2_Missense_Mutation_p.E14Q|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 655 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) GACAGGATTTGAACTAACAGA 0.368000 7 28 0 0 1 0 0 TBL3 10607 broad.mit.edu 37 16 2024268 2024268 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr16:2024268G>A ENST00000568546.1 + 3 292 c.164G>A c.(163-165)gGg>gAg p.G55E NM_006453.2 NP_006444.2 Q12788 TBL3_HUMAN transducin (beta)-like 3 55 G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing nucleolus|small-subunit processome receptor signaling protein activity breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 18 GTGGCCTCGGGGGCCGTGCTG 0.647000 38 83 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr16:90161926T>C ENST00000567960.1 + 0 662 TUBB8P7_ENST00000564451.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 4 44 0 0 1 0 0 NUP188 23511 broad.mit.edu 37 9 131745215 131745215 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr9:131745215C>T ENST00000372577.2 + 17 1725 c.1704C>T c.(1702-1704)atC>atT p.I568I NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 568 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 TCAAACCCATCATTGATCTCG 0.502000 40 52 0 0 1 0 0 KCNK13 56659 broad.mit.edu 37 14 90650720 90650720 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr14:90650720C>G ENST00000282146.4 + 2 1041 c.600C>G c.(598-600)atC>atG p.I200M NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 200 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) TCATGCTGATCCTATGCACAG 0.592000 32 162 0 0 1 0 0 FAM171B 165215 broad.mit.edu 37 2 187627410 187627410 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:187627410G>A ENST00000304698.5 + 8 2544 c.2341G>A c.(2341-2343)Gga>Aga p.G781R NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 781 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 AGAGTCGCCAGGAAGGAAAAG 0.502000 3 18 0 0 1 0 0 INTS1 26173 broad.mit.edu 37 7 1523488 1523488 + Splice_Site SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:1523488G>A ENST00000389470.4 - 27 3916 c.3917C>T c.(3916-3918)tCg>tTg p.S1306L INTS1_ENST00000404767.3_Splice_Site_p.S1144L Q8N201 INT1_HUMAN integrator complex subunit 1 1144 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CTGAGACTCCGACTGTGGGAA 0.647000 17 78 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21224807 21224807 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:21224807C>G ENST00000233242.1 - 29 13614 c.13487G>C c.(13486-13488)aGa>aCa p.R4496T NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 4496 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CAGTTTATATCTAAACTGCTG 0.363000 11 38 0 0 1 0 0 LINC01410 103352539 broad.mit.edu 37 9 66457999 66457999 + RNA SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr9:66457999C>A ENST00000424345.1 + 0 67 ATGCTGCTGCCTGGCGGTGCT 0.731000 4 21 1.23904e-05 1.26509e-05 1 1 0 OR52W1 120787 broad.mit.edu 37 11 6220474 6220474 + Silent SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr11:6220474C>G ENST00000311352.2 + 1 99 c.21C>G c.(19-21)ctC>ctG p.L7L NM_001005178.1 NP_001005178.1 Q6IF63 O52W1_HUMAN olfactory receptor, family 52, subfamily W, member 1 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6) 11 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCTACAACTCAATTCCACCT 0.517000 34 43 0 0 1 0 0 ASCL1 429 broad.mit.edu 37 12 103352354 103352354 + Missense_Mutation SNP G G T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr12:103352354G>T ENST00000266744.3 + 1 891 c.332G>T c.(331-333)aGc>aTc p.S111I NM_004316.3 NP_004307.2 P50553 ASCL1_HUMAN achaete-scute family bHLH transcription factor 1 111 cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development nucleus bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity NS(3)|large_intestine(1)|lung(1) 5 TTTGGCTACAGCCTGCCGCAG 0.662000 15 9 7.07596e-05 7.18157e-05 1 1 0 ADAM29 11086 broad.mit.edu 37 4 175896737 175896737 + Missense_Mutation SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr4:175896737C>A ENST00000359240.3 + 5 731 c.61C>A c.(61-63)Cag>Aag p.Q21K ADAM29_ENST00000514159.1_Missense_Mutation_p.Q21K|ADAM29_ENST00000404450.4_Missense_Mutation_p.Q21K|ADAM29_ENST00000445694.1_Missense_Mutation_p.Q21K NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 21 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TGGACACATCCAGGATGAGCA 0.507000 20 75 1.96895e-08 2.02861e-08 1 1 0 WDR76 79968 broad.mit.edu 37 15 44149340 44149340 + Missense_Mutation SNP A A G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:44149340A>G ENST00000263795.6 + 10 1458 c.1388A>G c.(1387-1389)tAt>tGt p.Y463C WDR76_ENST00000381246.2_Missense_Mutation_p.Y399C NM_001167941.1|NM_024908.3 NP_001161413.1|NP_079184.2 Q9H967 WDR76_HUMAN WD repeat domain 76 463 breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2) 20 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07) CATAGACAGTATTTTATCACT 0.373000 12 16 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62330234 62330234 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:62330234C>G ENST00000371158.2 + 20 2878 c.2764C>G c.(2764-2766)Caa>Gaa p.Q922E INADL_ENST00000316485.6_Missense_Mutation_p.Q922E NM_176877.2 NP_795352 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 922 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 ATCCGAGTCTCAAGAGGCAAG 0.483000 58 54 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67685194 67685194 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr16:67685194C>T ENST00000334583.6 + 23 2617 c.2289C>T c.(2287-2289)atC>atT p.I763I RLTPR_ENST00000545661.1_Silent_p.I727I NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 763 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) AGGATGCCATCCAAAATGCCA 0.587000 42 86 0 0 1 0 0 COPS6 10980 broad.mit.edu 37 7 99686983 99686983 + Silent SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:99686983C>G ENST00000303904.3 + 2 184 c.147C>G c.(145-147)ctC>ctG p.L49L COPS6_ENST00000418625.1_Silent_p.L48L NM_006833.4 NP_006824.2 Q7L5N1 CSN6_HUMAN COP9 signalosome subunit 6 49 MPN. cullin deneddylation|interspecies interaction between organisms cytoplasm|signalosome protein binding breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1) 12 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) TTGTCATTCTCAACATCTCAG 0.592000 134 175 0 0 1 0 0 ESD 2098 broad.mit.edu 37 13 47365491 47365491 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr13:47365491C>T ENST00000378720.3 - 3 240 c.58G>A c.(58-60)Gaa>Aaa p.E20K ESD_ENST00000378697.1_5'UTR|ESD_ENST00000495654.1_5'UTR NM_001984.1 NP_001975.1 P10768 ESTD_HUMAN esterase D 20 cytoplasmic membrane-bounded vesicle carboxylesterase activity|S-formylglutathione hydrolase activity endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1) 9 all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) GBM - Glioblastoma multiforme(144;2.66e-05) Glutathione(DB00143) CTGTCATGTTCAAAAACTTTC 0.303000 13 12 0 0 1 0 0 RHOQ 23433 broad.mit.edu 37 2 46770291 46770291 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:46770291G>A ENST00000238738.4 + 1 425 c.106G>A c.(106-108)Gag>Aag p.E36K RHOQ_ENST00000465198.1_Intron NM_012249.3 NP_036381.2 P17081 RHOQ_HUMAN ras homolog family member Q 36 cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction actin filament|cytosol|plasma membrane GBD domain binding|GTP binding|GTPase activity|profilin binding skin(2) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) CGCCTTCCCGGAGGAGTACGT 0.652000 51 172 0 0 1 0 0 MROH5 389690 broad.mit.edu 37 8 142490016 142490016 + RNA SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr8:142490016C>G ENST00000430863.1 - 0 1049 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 TCACCTCCCTCTGCTTGGGCC 0.592000 12 48 0 0 1 0 0 TTYH1 57348 broad.mit.edu 37 19 54932494 54932494 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:54932494G>A ENST00000301194.4 + 3 471 c.349G>A c.(349-351)Gat>Aat p.D117N TTYH1_ENST00000391739.3_Missense_Mutation_p.D166N|TTYH1_ENST00000376531.3_Missense_Mutation_p.D117N|TTYH1_ENST00000376530.3_Missense_Mutation_p.D117N Q9H313 TTYH1_HUMAN tweety family member 1 117 cell adhesion chloride channel complex|plasma membrane chloride channel activity|iron ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0767) TGAGACCAGTGATGGGGTGTC 0.637000 36 164 0 0 1 0 0 SH3BP4 23677 broad.mit.edu 37 2 235943684 235943684 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:235943684G>A ENST00000409212.1 + 3 545 c.38G>A c.(37-39)gGc>gAc p.G13D SH3BP4_ENST00000344528.4_Missense_Mutation_p.G13D|SH3BP4_ENST00000392011.2_Missense_Mutation_p.G13D Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 13 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) AACTCCAATGGCCTCCCTCGC 0.552000 5 30 0 0 1 0 0 PUM1 9698 broad.mit.edu 37 1 31478699 31478699 + Splice_Site SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:31478699C>T ENST00000373747.3 - 5 820 c.e5+1 PUM1_ENST00000257075.5_Splice_Site|PUM1_ENST00000373742.2_Intron|PUM1_ENST00000423018.2_Intron|PUM1_ENST00000373741.4_Splice_Site|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000440538.2_Splice_Site|PUM1_ENST00000426105.2_Splice_Site NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) AGCCAACTTACAAATCCTCCT 0.478000 33 24 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137928489 137928489 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:137928489C>T ENST00000409968.1 + 7 1882 c.1704C>T c.(1702-1704)gcC>gcT p.A568A THSD7B_ENST00000413152.2_Silent_p.A537A|THSD7B_ENST00000272643.3_Silent_p.A568A|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TTCTGAAGGCCGTCTGCCAGA 0.483000 11 12 0 0 1 0 0 EDNRB 1910 broad.mit.edu 37 13 78477333 78477333 + Silent SNP T T C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr13:78477333T>C ENST00000377211.4 - 4 1181 c.1029A>G c.(1027-1029)cgA>cgG p.R343R EDNRB_ENST00000446573.1_Silent_p.R253R|EDNRB_ENST00000334286.5_Silent_p.R253R NM_001201397.1 NP_001188326.1 P24530 EDNRB_HUMAN endothelin receptor type B 253 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3) 42 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) GCAAGCAGATTCGCAGATAAC 0.373000 23 34 0 0 1 0 0 MEI1 150365 broad.mit.edu 37 22 42112115 42112115 + Missense_Mutation SNP T T C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr22:42112115T>C ENST00000401548.3 + 5 534 c.494T>C c.(493-495)aTc>aCc p.I165T MEI1_ENST00000540833.1_5'UTR|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR NM_152513.3 NP_689726.3 Q5TIA1 MEI1_HUMAN meiosis inhibitor 1 165 binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 GTGGATGCCATCCCTGCTCTG 0.532000 14 32 0 0 1 0 0 CPEB1 64506 broad.mit.edu 37 15 83218237 83218237 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:83218237C>G ENST00000563800.1 - 9 3178 c.1453G>C c.(1453-1455)Gac>Cac p.D485H CPEB1_ENST00000450751.2_Missense_Mutation_p.D383H|CPEB1_ENST00000562019.1_Missense_Mutation_p.D463H|CPEB1_ENST00000564522.1_Missense_Mutation_p.D383H|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.L192F|CPEB1_ENST00000398591.2_Missense_Mutation_p.D388H|CPEB1_ENST00000261723.6_Missense_Mutation_p.D461H|CPEB1_ENST00000568757.1_Missense_Mutation_p.D383H|CPEB1_ENST00000568128.1_Missense_Mutation_p.D458H|CPEB1_ENST00000423133.2_Missense_Mutation_p.D383H|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000398592.2_Missense_Mutation_p.D232H Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding protein 1 463 Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2. mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(143;0.229) TTATCTGTGTCAATCCCGGCA 0.517000 16 41 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235973651 235973651 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:235973651C>G ENST00000389794.3 - 5 641 c.467G>C c.(466-468)aGa>aCa p.R156T LYST_ENST00000389793.2_Missense_Mutation_p.R156T|LYST_ENST00000536965.1_Missense_Mutation_p.R156T Q99698 LYST_HUMAN lysosomal trafficking regulator 156 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TCTTGCATCTCTTACAGAATA 0.418000 30 42 0 0 1 0 0 KIAA1468 57614 broad.mit.edu 37 18 59925298 59925298 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr18:59925298G>C ENST00000256858.6 + 14 2262 c.2014G>C c.(2014-2016)Gat>Cat p.D672H KIAA1468_ENST00000398130.2_Missense_Mutation_p.D672H Q9P260 K1468_HUMAN KIAA1468 672 binding autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) GGGATACATTGATGATCCAGA 0.313000 5 16 0 0 1 0 0 HIP1 3092 broad.mit.edu 37 7 75190679 75190679 + Missense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:75190679C>G ENST00000336926.6 - 13 1171 c.1145G>C c.(1144-1146)aGa>aCa p.R382T HIP1_ENST00000434438.2_Missense_Mutation_p.R382T NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 382 activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 ACTGATCTCTCTGTATAGTCG 0.443000 T PDGFRB CMML 46 85 0 0 1 0 0 PCDHGB7 56099 broad.mit.edu 37 5 140798381 140798381 + Missense_Mutation SNP A A T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:140798381A>T ENST00000398594.2 + 1 955 c.955A>T c.(955-957)Ata>Tta p.I319L PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron NM_018927.3 NP_061750.1 central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TACGATAAACATAGAAGCAAA 0.398000 7 1 0 0 1 0 0 SPATA5 166378 broad.mit.edu 37 4 124177235 124177235 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr4:124177235G>A ENST00000274008.4 + 15 2474 c.2405G>A c.(2404-2406)aGa>aAa p.R802K NM_145207.2 NP_660208.2 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 GCAGCAACAAGAAGGGAAATA 0.438000 42 15 0 0 1 0 0 SCFD1 23256 broad.mit.edu 37 14 31169416 31169416 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr14:31169416G>C ENST00000458591.2 + 16 1589 c.1362G>C c.(1360-1362)atG>atC p.M454I SCFD1_ENST00000544052.2_Missense_Mutation_p.M387I|SCFD1_ENST00000421551.3_Missense_Mutation_p.M395I|SCFD1_ENST00000541123.1_Missense_Mutation_p.M269I|SCFD1_ENST00000396629.2_Missense_Mutation_p.M362I|SCFD1_ENST00000554486.1_3'UTR NM_016106.3 NP_057190.2 Q8WVM8 SCFD1_HUMAN sec1 family domain containing 1 454 post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane syntaxin-5 binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1) 13 Hepatocellular(127;0.0877) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119) GBM - Glioblastoma multiforme(265;0.0181) AAGATAAAATGAGGTTGTTTC 0.348000 20 37 0 0 1 0 0 CDCA3 83461 broad.mit.edu 37 12 6959647 6959647 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr12:6959647C>T ENST00000422785.3 - 3 338 c.234G>A c.(232-234)atG>atA p.M78I CDCA3_ENST00000540683.1_Missense_Mutation_p.M78I|CDCA3_ENST00000535406.1_Missense_Mutation_p.M78I|CDCA3_ENST00000229265.6_Missense_Mutation_p.M78I|CDCA3_ENST00000538862.2_Missense_Mutation_p.M78I Q99618 CDCA3_HUMAN cell division cycle associated 3 78 cell division|mitosis cytosol breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1) 8 TGCTGGTCTTCATAGGTGTCC 0.542000 96 117 0 0 1 0 0 SRSF6 6431 broad.mit.edu 37 20 42088479 42088479 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr20:42088479G>C ENST00000244020.3 + 3 431 c.325G>C c.(325-327)Gaa>Caa p.E109Q NM_006275.5 NP_006266.2 Q13247 SRSF6_HUMAN serine/arginine-rich splicing factor 6 109 mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2) 5 TGTTCGTACAGAATACAGGCT 0.398000 45 66 0 0 1 0 0 RFX1 5989 broad.mit.edu 37 19 14076445 14076445 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:14076445G>A ENST00000254325.4 - 15 2340 c.2106C>T c.(2104-2106)ccC>ccT p.P702P NM_002918.4 NP_002909.4 P22670 RFX1_HUMAN regulatory factor X, 1 (influences HLA class II expression) 702 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) CACTGGGGATGGGCCGCAGCA 0.652000 12 43 0 0 1 0 0 EXOC1 55763 broad.mit.edu 37 4 56734667 56734667 + Missense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr4:56734667G>C ENST00000381295.2 + 5 929 c.581G>C c.(580-582)aGa>aCa p.R194T EXOC1_ENST00000346134.7_Missense_Mutation_p.R194T|EXOC1_ENST00000349598.6_Missense_Mutation_p.R194T NM_001024924.1 NP_001020095.1 Q9NV70 EXOC1_HUMAN exocyst complex component 1 194 exocytosis|protein transport exocyst protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 35 Glioma(25;0.08)|all_neural(26;0.101) AAATTGTCCAGAGAGCTGCAG 0.388000 9 49 0 0 1 0 0 CRIP3 401262 broad.mit.edu 37 6 43273792 43273792 + Missense_Mutation SNP T T C rs139840752 by1000genomes TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr6:43273792T>C ENST00000274990.4 - 7 570 c.566A>G c.(565-567)cAt>cGt p.H189R CRIP3_ENST00000372569.3_Intron Q6Q6R5 CRIP3_HUMAN cysteine-rich protein 3 189 cytoplasm zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) GTGTCTGGGATGGGGCTGCCC 0.557000 119 27 0 0 1 0 0 TMPRSS3 64699 broad.mit.edu 37 21 43802184 43802184 + Silent SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr21:43802184G>C ENST00000291532.3 - 9 1897 c.942C>G c.(940-942)ctC>ctG p.L314L TMPRSS3_ENST00000398397.3_Silent_p.L314L|TMPRSS3_ENST00000398405.1_Silent_p.L312L|TMPRSS3_ENST00000433957.2_Silent_p.L314L|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000380399.1_Silent_p.L398L NM_032404.2 NP_115780.1 P57727 TMPS3_HUMAN transmembrane protease, serine 3 314 Peptidase S1. cellular sodium ion homeostasis|proteolysis endoplasmic reticulum membrane|integral to membrane scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1) 13 CATTGAACGTGAGTGGCCCGG 0.498000 36 44 0 0 1 0 0 LIG1 3978 broad.mit.edu 37 19 48634393 48634393 + Silent SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:48634393G>A ENST00000263274.7 - 19 2180 c.1761C>T c.(1759-1761)ttC>ttT p.F587F LIG1_ENST00000536218.1_Silent_p.F519F|LIG1_ENST00000427526.2_Silent_p.F556F NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 587 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) GATTCCTGCTGAAGATCTTCA 0.577000 Nucleotide excision repair (NER) 7 117 0 0 1 0 0 FZD1 8321 broad.mit.edu 37 7 90895017 90895017 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr7:90895017C>T ENST00000287934.2 + 1 1235 c.822C>T c.(820-822)ttC>ttT p.F274F NM_003505.1 NP_003496.1 Q9UP38 FZD1_HUMAN frizzled family receptor 1 274 autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) GAGGCAAGTTCTCCTGCCCGC 0.692000 11 8 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21102872 21102872 + Nonsense_Mutation SNP G G C TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr10:21102872G>C ENST00000377122.4 - 23 2738 c.2342C>G c.(2341-2343)tCa>tGa p.S781* NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 781 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CCCTACCATTGAAATATGATT 0.383000 9 29 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90078972 90078972 + Silent SNP A A G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:90078972A>G ENST00000405460.2 + 66 13359 c.13263A>G c.(13261-13263)ccA>ccG p.P4421P GPR98_ENST00000425867.2_Silent_p.P82P NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4421 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCATGATCCCAGTGGTGAGGC 0.448000 43 168 0 0 1 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862967 10862967 + RNA SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr21:10862967C>A ENST00000559480.1 + 0 263 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 GCCAGAGTCACCATAACCAGG 0.527000 63 397 1.51283e-56 1.63289e-56 1 1 0 ZNF550 162972 broad.mit.edu 37 19 58058953 58058953 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:58058953C>T ENST00000325134.5 - 3 719 c.563G>A c.(562-564)cGa>cAa p.R188Q ZNF550_ENST00000457177.1_Missense_Mutation_p.R220Q|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000506609.2_Missense_Mutation_p.R179Q Q7Z398 ZN550_HUMAN zinc finger protein 550 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 7 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CCTCTGATGTCGAACGAGATA 0.483000 42 65 0 0 1 0 0 ZZZ3 26009 broad.mit.edu 37 1 78031766 78031766 + Splice_Site SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:78031766C>G ENST00000370801.3 - 14 3042 c.2567G>C c.(2566-2568)tGt>tCt p.C856S ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Splice_Site_p.C362S NM_015534.4 NP_056349.1 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 856 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2) 39 AAACACTTACCAGTCTGAACA 0.393000 4 15 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41365655 41365655 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:41365655C>T ENST00000361937.3 - 11 1790 c.1366G>A c.(1366-1368)Gaa>Aaa p.E456K INO80_ENST00000401393.3_Missense_Mutation_p.E456K Q9ULG1 INO80_HUMAN INO80 complex subunit 456 Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TAAGCATTTTCAGCATTCTTC 0.378000 6 49 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578454 7578454 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr17:7578454G>A ENST00000420246.2 - 5 608 c.476C>T c.(475-477)gCc>gTc p.A159V TP53_ENST00000413465.2_Missense_Mutation_p.A159V|TP53_ENST00000455263.2_Missense_Mutation_p.A159V|TP53_ENST00000269305.4_Missense_Mutation_p.A159V|TP53_ENST00000445888.2_Missense_Mutation_p.A159V|TP53_ENST00000359597.4_Missense_Mutation_p.A159V NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 159 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.A159V(33)|p.0?(8)|p.A159D(7)|p.R158fs(6)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R158fs*11(1)|p.A66V(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.A27V(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GATGGCCATGGCGCGGACGCG 0.627000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 63 19 0 0 1 0 0 C1QTNF1 114897 broad.mit.edu 37 17 77043906 77043906 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr17:77043906C>T ENST00000339142.2 + 5 1137 c.582C>T c.(580-582)ttC>ttT p.F194F C1QTNF1_ENST00000311661.4_Silent_p.F112F|C1QTNF1_ENST00000578229.1_Silent_p.F112F|C1QTNF1_ENST00000580474.1_Silent_p.F194F|C1QTNF1_ENST00000354124.3_Silent_p.F204F|C1QTNF1_ENST00000392445.2_Silent_p.F194F|C1QTNF1_ENST00000583904.1_Silent_p.F194F|C1QTNF1_ENST00000580454.1_Silent_p.F194F|C1QTNF1_ENST00000581774.1_Silent_p.F194F|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000579760.1_Silent_p.F194F NM_198593.3 NP_940995.1 Q9BXJ1 C1QT1_HUMAN C1q and tumor necrosis factor related protein 1 194 C1q. collagen breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2) 14 BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201) GCCTCTACTTCTTCAGCCTCA 0.552000 82 69 0 0 1 0 0 CYFIP1 23191 broad.mit.edu 37 15 22955190 22955190 + Missense_Mutation SNP C C A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:22955190C>A ENST00000313077.7 + 15 1709 c.1584C>A c.(1582-1584)ttC>ttA p.F528L CYFIP1_ENST00000560848.1_Missense_Mutation_p.F528L NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 528 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) ATGAGCCCTTCAATGACCCAG 0.622000 33 49 4.44401e-20 4.73656e-20 1 1 0 SNX27 81609 broad.mit.edu 37 1 151584734 151584735 + In_Frame_Ins INS - - GGC TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:151584734_151584735insGGC ENST00000368843.3 + 1 177_178 c.57_58insGGC c.(58-60)ggc>GGCggc p.20_20G>GG SNX27_ENST00000458013.2_In_Frame_Ins_p.20_20G>GG|RP11-404E16.1_ENST00000504583.2_RNA NM_030918.5 NP_112180.4 Q96L92 SNX27_HUMAN sorting nexin family member 27 20 cell communication|protein transport|signal transduction cytosol|early endosome phosphatidylinositol binding|protein binding central_nervous_system(1)|large_intestine(2)|ovary(2) 5 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GGAAcggaggtggcggcggcgg 0.738 10 19 --- --- --- --- BTG2 7832 broad.mit.edu 37 1 203276381 203276382 + Frame_Shift_Del DEL AG AG - TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr1:203276381_203276382delAG ENST00000290551.4 + 2 363_364 c.292_293delAG c.(292-294)agcfs p.S98fs NM_006763.2 NP_006754.1 P78543 BTG2_HUMAN BTG family, member 2 98 DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(75;0.203) GCTGCTGCCCAGCGAGCTGACC 0.644 34 93 --- --- --- --- PGM5P3-AS1 101929127 broad.mit.edu 37 2 114298850 114298851 + RNA DEL AC AC - TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:114298850_114298851delAC ENST00000446595.1 - 0 90 GGGTacacagacacacacacac 0.564 2 4 --- --- --- --- NGEF 25791 broad.mit.edu 37 2 233792653 233792653 + Frame_Shift_Del DEL G G - TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr2:233792653delG ENST00000373552.4 - 1 211 c.57delC c.(55-57)tccfs p.S19fs NGEF_ENST00000409079.1_Frame_Shift_Del_p.S19fs|NGEF_ENST00000264051.3_Intron NM_001114090.1 NP_001107562.1 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 0 Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) TTTCCGAGGTGGAACTGTCGT 0.796 2 4 --- --- --- --- AC128709.2 0 broad.mit.edu 37 3 197186538 197186539 + RNA INS - - G rs111705519 TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr3:197186538_197186539insG ENST00000420213.1 + 0 138 TGTGGTCGGGAGGGATGCAGTT 0.589 12 91 --- --- --- --- AACSP1 729522 broad.mit.edu 37 5 178210405 178210406 + RNA DEL CA CA - TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr5:178210405_178210406delCA ENST00000503486.2 - 0 647 NR_024035.1 caccacacaccacacacacaca 0.515 4 3 --- --- --- --- FOXC1 2296 broad.mit.edu 37 6 1611802 1611803 + In_Frame_Ins INS - - GGC rs76840944 TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr6:1611802_1611803insGGC ENST00000380874.2 + 1 1122_1123 c.1122_1123insGGC c.(1123-1125)ggc>GGCggc p.375_375G>GG NM_001453.2 NP_001444.2 Q12948 FOXC1_HUMAN forkhead box C1 375 Poly-Gly. anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis nuclear heterochromatin|transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 8 Ovarian(93;0.0733) all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895) Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168) cgggcagctcgggcggcggcgg 0.797 4 5 --- --- --- --- LOC102724623 102724623 broad.mit.edu 37 8 65066594 65066595 + RNA INS - - TG rs34200535 by1000genomes TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr8:65066594_65066595insTG ENST00000524360.1 - 0 128 RP11-32K4.1_ENST00000523191.1_RNA|RP11-32K4.1_ENST00000520365.1_RNA|RP11-32K4.1_ENST00000521958.1_RNA CCCTCCAACAAtgtgtgtgtgt 0.396 6 4 --- --- --- --- RP11-764K9.1 0 broad.mit.edu 37 9 68406889 68406889 + RNA DEL G G - rs141841413 by1000genomes TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr9:68406889delG ENST00000417843.2 - 0 224 atccagggcagtcatagtggt 0.498 8 10 --- --- --- --- PPFIA1 8500 broad.mit.edu 37 11 70194407 70194407 + Frame_Shift_Del DEL C C - TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr11:70194407delC ENST00000253925.7 + 16 2259 c.2044delC c.(2044-2046)cccfs p.P683fs PPFIA1_ENST00000389547.3_Frame_Shift_Del_p.P683fs|AP000487.6_ENST00000528607.1_RNA NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 683 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) GAGCTCCATTCCCCCCTACCC 0.557 8 2893 --- --- --- --- TBC1D30 23329 broad.mit.edu 37 12 65269038 65269038 + Frame_Shift_Del DEL G G - TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr12:65269038delG ENST00000542120.1 + 13 1659 c.1414delG c.(1414-1416)gggfs p.G472fs TBC1D30_ENST00000539867.1_Frame_Shift_Del_p.G586fs|TBC1D30_ENST00000229088.6_Frame_Shift_Del_p.G749fs F5GYJ9 F5GYJ9_HUMAN TBC1 domain family, member 30 586 intracellular Rab GTPase activator activity NS(3)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 5 TCCGGGCTGTGGGGACACCGT 0.577 2 4 --- --- --- --- LINC01257 116437 broad.mit.edu 37 12 131687287 131687287 + RNA DEL G G - rs7486559 by1000genomes TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr12:131687287delG ENST00000376678.2 + 0 220 NR_026670.2 CCTCCTCCCCGCGACGTGACG 0.632 2 4 --- --- --- --- RP11-624L4.1 0 broad.mit.edu 37 15 39433239 39433240 + RNA DEL AC AC - rs5812083 TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr15:39433239_39433240delAC ENST00000561058.1 - 0 44 RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA TTTcacacatacacacacacac 0.421 4 6 --- --- --- --- LOC101928188 101928188 broad.mit.edu 37 16 29231001 29231002 + RNA DEL AT AT - rs10565454 TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr16:29231001_29231002delAT ENST00000566070.1 - 0 350_351 acgcatacacatgtgcccagac 0.480 4 5 --- --- --- --- RP11-410D17.2 0 broad.mit.edu 37 16 58926335 58926336 + RNA INS - - C rs113534201 by1000genomes TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr16:58926335_58926336insC ENST00000500117.1 + 0 679 caccaccatcacccccactact 0.535 4 7 --- --- --- --- LA16c-444G7.1 0 broad.mit.edu 37 16 88278000 88278003 + RNA DEL TGGA TGGA - TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr16:88278000_88278003delTGGA ENST00000563190.1 + 0 119 aatgcatgggtggatggatggatg 0.529 5 5 --- --- --- --- SLFN12L 100506736 broad.mit.edu 37 17 33806620 33806620 + Frame_Shift_Del DEL A A - TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr17:33806620delA ENST00000260908.7 - 2 726 c.609delT c.(607-609)tttfs p.F203fs SLFN12L_ENST00000449046.1_Frame_Shift_Del_p.F234fs|SLFN12L_ENST00000361112.4_Frame_Shift_Del_p.F232fs NM_001195790.1 NP_001182719.1 Q6IEE8 SN12L_HUMAN schlafen family member 12-like 235 integral to membrane ATP binding p.N235fs*1(4) breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1) 16 CTGTTCTGTTAAAAAAATCAG 0.368 2 4 --- --- --- --- LINC00854 100874261 broad.mit.edu 37 17 41381913 41381914 + RNA INS - - T rs11403368 TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr17:41381913_41381914insT ENST00000433702.2 - 0 14 LINC00854_ENST00000608223.1_RNA NR_047479.1 accctgatctatcatcgggagg 0.550 12 63 --- --- --- --- ROCK1P1 727758 broad.mit.edu 37 18 111052 111052 + RNA DEL C C - TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr18:111052delC ENST00000608049.1 + 0 389 NR_033770.1 ctaggttcagcctacaggagc 0.488 8 37 --- --- --- --- LPPR2 64748 broad.mit.edu 37 19 11473280 11473288 + In_Frame_Del DEL GCGTGGTCC GCGTGGTCC - TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:11473280_11473288delGCGTGGTCC ENST00000251473.5 + 7 1131_1139 c.755_763delGCGTGGTCC c.(754-765)ggcgtggtccgc>ggc p.VVR253del DKFZP761J1410_ENST00000591608.1_In_Frame_Del_p.VVR228del NM_001170635.1|NM_022737.2 NP_001164106.1|NP_073574.2 TTCCTGGTGGGCGTGGTCCGCGTGGCCGA 0.651 22 137 --- --- --- --- LOC284395 284395 broad.mit.edu 37 19 29930019 29930020 + RNA DEL GA GA - TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:29930019_29930020delGA ENST00000582581.1 - 0 329 NR_040029.1 gggagggagggagagagagagg 0.644 4 9 --- --- --- --- LILRB1 10859 broad.mit.edu 37 19 55146148 55146150 + In_Frame_Del DEL CTC CTC - TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr19:55146148_55146150delCTC ENST00000396331.1 + 11 1774_1776 c.1417_1419delCTC c.(1417-1419)ctcdel p.L479del LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 479 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CAtcctactgctcctcctcctcc 0.581 HNSCC(37;0.09) 9 80 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11058882 11058882 + RNA DEL A A - rs145149071 TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575 e5b3d378-b7dd-458b-ac52-9892a5a571eb g.chr21:11058882delA ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AATGTGGGGGAAAAAAATTAG 0.358 6 2 --- --- --- ---