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 PCDHA2 0 broad.mit.edu 37 5 140176070 140176070 + Silent SNP C C T TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr5:140176070C>T ENST00000526136.1 + 1 1521 c.1521C>T c.(1519-1521)taC>taT p.Y507Y PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.Y507Y|PCDHA2_ENST00000378132.1_Silent_p.Y507Y NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTCGAGCTACGTTTCGGTGC 0.682000 11 38 0 0 0.132662 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12941802 12941802 + Missense_Mutation SNP C C T TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr1:12941802C>T ENST00000235349.5 - 3 818 c.748G>A c.(748-750)Gtt>Att p.V250I NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 250 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCTGGGGAAACGTAGCGAGAG 0.488000 78 159 0 0 0.139131 0 0 ORMDL2 29095 broad.mit.edu 37 12 56213247 56213247 + Missense_Mutation SNP G G A TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr12:56213247G>A ENST00000243045.5 + 3 491 c.296G>A c.(295-297)cGc>cAc p.R99H ORMDL2_ENST00000550836.1_Missense_Mutation_p.R11H|ORMDL2_ENST00000552672.1_Missense_Mutation_p.R65H|ORMDL2_ENST00000548974.1_Missense_Mutation_p.R99H|RP11-762I7.5_ENST00000552719.1_Intron|RP11-762I7.5_ENST00000546837.1_Intron NM_014182.4 NP_054901.1 Q53FV1 ORML2_HUMAN ORM1-like 2 (S. cerevisiae) 99 ceramide metabolic process endoplasmic reticulum membrane|integral to membrane kidney(1)|lung(3) 4 ACCTCTTCCCGCAAGTTCCTC 0.512000 5 136 0 0 0.029380 0 0 CPNE8 144402 broad.mit.edu 37 12 39087538 39087538 + Missense_Mutation SNP T T C TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr12:39087538T>C ENST00000331366.5 - 15 1160 c.1064A>G c.(1063-1065)gAc>gGc p.D355G CPNE8_ENST00000538596.2_Missense_Mutation_p.D24G|CPNE8_ENST00000360449.3_Missense_Mutation_p.D343G NM_153634.2 NP_705898.1 Q86YQ8 CPNE8_HUMAN copine VIII 355 VWFA. NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 21 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) TTTATCACTGTCATAATCTTG 0.418000 3 112 0 0 0.115264 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14763803 14763803 + Silent SNP G G A TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr18:14763803G>A ENST00000358984.4 + 7 1119 c.939G>A c.(937-939)acG>acA p.T313T ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Silent_p.T313T NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 313 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 TGGAGGGAACGTCTGCCAAAA 0.478000 8 12 0 0 0.038147 0 0 DAPK1 1612 broad.mit.edu 37 9 90301560 90301560 + Missense_Mutation SNP G G A TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr9:90301560G>A ENST00000469640.2 + 21 2694 c.2319G>A c.(2317-2319)atG>atA p.M773I DAPK1_ENST00000358077.5_Missense_Mutation_p.M773I|DAPK1_ENST00000491893.1_Missense_Mutation_p.M773I|DAPK1_ENST00000408954.3_Missense_Mutation_p.M773I|DAPK1_ENST00000472284.1_Missense_Mutation_p.M773I P53355 DAPK1_HUMAN death-associated protein kinase 1 773 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 CCAAAGGGATGCTGGAGGTGT 0.577000 Chronic Lymphocytic Leukemia, Familial Clustering of 10 10 0 0 0.058154 0 0 PPEF2 5470 broad.mit.edu 37 4 76812812 76812812 + Missense_Mutation SNP C C T TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr4:76812812C>T ENST00000286719.7 - 4 586 c.230G>A c.(229-231)aGc>aAc p.S77N NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 77 detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GTCGTTGTGGCTGCTGGGGAT 0.522000 85 173 0 0 0.139131 0 0 HCN4 10021 broad.mit.edu 37 15 73615766 73615766 + Missense_Mutation SNP G G A TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr15:73615766G>A ENST00000261917.3 - 8 3661 c.2668C>T c.(2668-2670)Ccc>Tcc p.P890S NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 890 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) GGAGCCGAGGGGGAGCCACAG 0.677000 6 7 0 0 0.217242 0 0 CD1E 913 broad.mit.edu 37 1 158324220 158324220 + Missense_Mutation SNP C C T TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr1:158324220C>T ENST00000368160.3 + 2 112 c.112C>T c.(112-114)Cgc>Tgc p.R38C CD1E_ENST00000368167.3_Missense_Mutation_p.R38C|CD1E_ENST00000368161.3_Missense_Mutation_p.R38C|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.R38C|CD1E_ENST00000368165.3_Missense_Mutation_p.R38C|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.R36C|CD1E_ENST00000368163.3_Missense_Mutation_p.R38C|CD1E_ENST00000368155.3_Missense_Mutation_p.R38C|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368157.1_Intron NM_001042583.2 NP_001036048.1 P15812 CD1E_HUMAN CD1e molecule 38 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen p.R38C(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) GCTGTCCTTCCGCATGCTCCA 0.542000 27 86 0 0 0.108266 0 0 FAT4 79633 broad.mit.edu 37 4 126239159 126239159 + Silent SNP C C T TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr4:126239159C>T ENST00000394329.3 + 1 1606 c.1593C>T c.(1591-1593)ctC>ctT p.L531L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 531 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ATAGCGGCCTCGTGACCACTG 0.547000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 29 0 0 0.132662 0 0 CPAMD8 27151 broad.mit.edu 37 19 17013546 17013546 + Missense_Mutation SNP C C T TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr19:17013546C>T ENST00000443236.1 - 35 4770 c.4739G>A c.(4738-4740)cGa>cAa p.R1580Q NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1533 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CCAGTCTCCTCGGGAACCCTC 0.657000 6 53 0 0 0.217242 0 0 IGHD 0 broad.mit.edu 37 14 106307534 106307534 + RNA SNP C C T TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr14:106307534C>T ENST00000390556.2 - 0 503 AGGTAGACGCCAAGAGGCTGG 0.642000 4 15 0 0 0.029380 0 0 FSCB 84075 broad.mit.edu 37 14 44974724 44974724 + Silent SNP G G A rs147203426 TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr14:44974724G>A ENST00000340446.4 - 1 1758 c.1467C>T c.(1465-1467)gcC>gcT p.A489A NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 489 Ala-rich. cilium p.A489A(1) breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) ACCGAGCTTCGGCAGGAGTTT 0.502000 7 31 0 0 0.058154 0 0 LRRC3 81543 broad.mit.edu 37 21 45877263 45877263 + Missense_Mutation SNP G G A TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr21:45877263G>A ENST00000291592.4 + 2 1053 c.736G>A c.(736-738)Gcc>Acc p.A246T NM_030891.3 NP_112153.1 Q9BY71 LRRC3_HUMAN leucine rich repeat containing 3 246 integral to membrane protein binding endometrium(2)|kidney(1)|lung(1)|urinary_tract(1) 5 Breast(209;0.00908) COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195) TCTGCCCAGCGCCCCCGCCTC 0.652000 12 28 0 0 0.119110 0 0 KCNS3 3790 broad.mit.edu 37 2 18113581 18113581 + Missense_Mutation SNP C C A TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr2:18113581C>A ENST00000403915.1 + 3 1757 c.1306C>A c.(1306-1308)Cct>Act p.P436T KCNS3_ENST00000304101.4_Missense_Mutation_p.P436T|KCNS3_ENST00000465292.1_Intron Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 436 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TCATGAGCTACCTTACTTTAA 0.453000 32 61 5.09552e-08 5.51433e-08 0.153744 1 0 HTR3C 170572 broad.mit.edu 37 3 183774718 183774718 + Nonsense_Mutation SNP C C T TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr3:183774718C>T ENST00000318351.1 + 5 479 c.445C>T c.(445-447)Cga>Tga p.R149* NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 149 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity p.R149*(1) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CAGTGAAGGTCGAATTAAGTA 0.478000 37 100 0 0 0.246493 0 0 CLEC12A 160364 broad.mit.edu 37 12 10124176 10124176 + Splice_Site SNP A A G TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr12:10124176A>G ENST00000355690.4 + 2 42 c.10_splice c.e2-1 p.D4_splice CLEC12A_ENST00000434319.2_5'UTR|CLEC12A_ENST00000304361.4_5'UTR NM_001207010.1 NP_001193939.1 Q5QGZ9 CL12A_HUMAN C-type lectin domain family 12, member A 0 integral to membrane|plasma membrane receptor activity|sugar binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 16 CTTTGTCAAGATTTCTTTACA 0.318000 18 31 0 0 0.204396 0 0 PHACTR3 116154 broad.mit.edu 37 20 58349322 58349322 + Silent SNP G G A TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr20:58349322G>A ENST00000371015.1 + 7 1418 c.951G>A c.(949-951)ggG>ggA p.G317G PHACTR3_ENST00000359926.3_Silent_p.G314G|PHACTR3_ENST00000395639.4_Silent_p.G206G|PHACTR3_ENST00000395636.2_Silent_p.G276G|PHACTR3_ENST00000541461.1_Silent_p.G276G|PHACTR3_ENST00000355648.4_Silent_p.G276G|PHACTR3_ENST00000361300.4_Silent_p.G206G NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 317 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) AAAGTAAAGGGTCTCCAAAGA 0.527000 14 34 0 0 0.105934 0 0 TRIM51 84767 broad.mit.edu 37 11 55653034 55653034 + Nonsense_Mutation SNP C C T TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr11:55653034C>T ENST00000449290.2 + 2 222 c.130C>T c.(130-132)Caa>Taa p.Q44* NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 44 intracellular zinc ion binding CCTCAACTGGCAAGACACGGC 0.507000 7 24 0 0 0.029380 0 0 PKHD1 5314 broad.mit.edu 37 6 51882309 51882309 + Silent SNP C C T TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr6:51882309C>T ENST00000371117.3 - 34 5774 c.5499G>A c.(5497-5499)tcG>tcA p.S1833S PKHD1_ENST00000340994.4_Silent_p.S1833S NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1833 S -> L (in ARPKD). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GGTAAGGCCACGATTCAAGCA 0.512000 25 105 0 0 0.091800 0 0 HCN4 10021 broad.mit.edu 37 15 73615765 73615765 + Missense_Mutation SNP G G A TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr15:73615765G>A ENST00000261917.3 - 8 3662 c.2669C>T c.(2668-2670)cCc>cTc p.P890L NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 890 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) GGGAGCCGAGGGGGAGCCACA 0.672000 5 7 0 0 0.184627 0 0 UGT2B17 7367 broad.mit.edu 37 4 69434170 69434170 + Silent SNP C C T TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr4:69434170C>T ENST00000317746.2 - 1 75 c.33G>A c.(31-33)ctG>ctA p.L11L NM_001077.3 NP_001068.1 O75795 UDB17_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B17 11 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 TGAGCTGCATCAGCAGAAAGA 0.423000 43 288 0 0 0.139131 0 0 TICRR 90381 broad.mit.edu 37 15 90167424 90167424 + Missense_Mutation SNP C C A TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr15:90167424C>A ENST00000268138.7 + 20 3988 c.3883C>A c.(3883-3885)Cca>Aca p.P1295T TICRR_ENST00000560985.1_Missense_Mutation_p.P1294T|KIF7_ENST00000558928.1_Intron TOPBP1-interacting checkpoint and replication regulator TCCAAAAAGACCAGGGAATTC 0.453000 42 86 9.39024e-22 1.07511e-21 0.111260 1 0 PTEN 5728 broad.mit.edu 37 10 89692835 89692835 + Missense_Mutation SNP G G T rs57374291 TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr10:89692835G>T ENST00000371953.3 + 5 1676 c.319G>T c.(319-321)Gat>Tat p.D107Y NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 107 Phosphatase tensin-type. D -> Y (in BZS and glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(5)|p.R55fs*1(5)|p.D107Y(3)|p.Y27fs*1(2)|p.F56fs*2(1)|p.P103fs*3(1)|p.D107N(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CTTTTGTGAAGATCTTGACCA 0.368000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 22 41 1.36565e-18 1.54123e-18 0.076483 1 0 TCHH 7062 broad.mit.edu 37 1 152082385 152082385 + Missense_Mutation SNP C C T TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr1:152082385C>T ENST00000368804.1 - 2 3307 c.3308G>A c.(3307-3309)cGc>cAc p.R1103H NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1103 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCGCTCCTGGCGCCTTCTCTT 0.612000 19 42 0 0 0.219247 0 0 COBLL1 22837 broad.mit.edu 37 2 165578649 165578649 + Missense_Mutation SNP G G T TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr2:165578649G>T ENST00000375458.2 - 6 1153 c.932C>A c.(931-933)gCa>gAa p.A311E COBLL1_ENST00000409184.3_Missense_Mutation_p.A349E|COBLL1_ENST00000392717.2_Missense_Mutation_p.A349E|COBLL1_ENST00000342193.4_Missense_Mutation_p.A311E|COBLL1_ENST00000194871.6_Missense_Mutation_p.A377E|COBLL1_ENST00000491126.2_Intron NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 349 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 CTGGATGTGTGCAAGGTCTTG 0.488000 21 57 2.37509e-13 2.64271e-13 0.219247 1 0 CCT6P1 0 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 3 18 0.184627 0.189423 0.184627 1 0 MARCH11 441061 broad.mit.edu 37 5 16067657 16067657 + Missense_Mutation SNP T T C TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr5:16067657T>C ENST00000332432.8 - 4 1331 c.1132A>G c.(1132-1134)Aat>Gat p.N378D NM_001102562.1 NP_001096032.1 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 378 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1) 20 CTCATCCGATTGAACAGGTGC 0.478000 41 116 0 0 0.111260 0 0 PCDHB2 0 broad.mit.edu 37 5 140475880 140475880 + Silent SNP C C T TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr5:140475880C>T ENST00000194155.4 + 1 1654 c.1506C>T c.(1504-1506)ctC>ctT p.L502L NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 502 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCTGCCCCTCGCCTCCCTGG 0.692000 13 89 0 0 0.132662 0 0 FZD10 11211 broad.mit.edu 37 12 130648631 130648631 + Missense_Mutation SNP G G A TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr12:130648631G>A ENST00000539839.1 + 1 1628 c.1046G>A c.(1045-1047)cGg>cAg p.R349Q FZD10_ENST00000229030.4_Missense_Mutation_p.G382R NM_007197.3 NP_009128.1 Q9ULW2 FZD10_HUMAN frizzled family receptor 10 0 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) CGAGCTCACCGGGGTCTGCTA 0.647000 18 37 0 0 0.189662 0 0 CD70 970 broad.mit.edu 37 19 6590911 6590911 + Missense_Mutation SNP C C T rs148772362 TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr19:6590911C>T ENST00000245903.3 - 1 252 c.103G>A c.(103-105)Gtg>Atg p.V35M CD70_ENST00000423145.3_Missense_Mutation_p.V35M NM_001252.3 NP_001243.1 P32970 CD70_HUMAN CD70 molecule 35 cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to membrane of membrane fraction|integral to plasma membrane cytokine activity|protease binding|tumor necrosis factor receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1) 11 ATGCACACCACGAGGCAGATC 0.627000 29 57 0 0 0.144211 0 0 B3GNT7 93010 broad.mit.edu 37 2 232263412 232263412 + Missense_Mutation SNP G G A TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr2:232263412G>A ENST00000287590.5 + 2 1243 c.982G>A c.(982-984)Gtc>Atc p.V328I NM_145236.2 NP_660279.1 Q8NFL0 B3GN7_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 328 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1) 17 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) GATCGACGACGTCTTTCTGGG 0.672000 16 34 0 0 0.146539 0 0 GRM3 0 broad.mit.edu 37 7 86415593 86415593 + Missense_Mutation SNP G G A TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr7:86415593G>A ENST00000361669.2 + 3 1584 c.485G>A c.(484-486)cGg>cAg p.R162Q GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.R160Q|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.R162Q|GRM3_ENST00000536043.1_Missense_Mutation_p.R34Q NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 162 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) AACCTGCTGCGGCTCTTCCAG 0.522000 63 232 0 0 0.139131 0 0 CLHC1 130162 broad.mit.edu 37 2 55404777 55404777 + Missense_Mutation SNP C C G TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr2:55404777C>G ENST00000401408.1 - 12 1870 c.1525G>C c.(1525-1527)Ggc>Cgc p.G509R CLHC1_ENST00000406437.2_Missense_Mutation_p.G60R|CLHC1_ENST00000407122.1_Missense_Mutation_p.G509R|CLHC1_ENST00000406076.1_Missense_Mutation_p.G387R|CLHC1_ENST00000494539.1_5'UTR NM_152385.2 NP_689598.2 clathrin heavy chain linker domain containing 1 AGCTTAATGCCAACTTTTTTC 0.353000 16 45 0 0 0.175082 0 0 HIST2H2BE 8349 broad.mit.edu 37 1 149858178 149858178 + Missense_Mutation SNP C C T TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr1:149858178C>T ENST00000369155.2 - 1 54 c.13G>A c.(13-15)Gca>Aca p.A5T NM_003528.2 NP_003519.1 Q16778 H2B2E_HUMAN histone cluster 2, H2be 5 A -> S (in Ref. 7; AAH98112/AAH98289). defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 14 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) GCGGATTTTGCCGGTTCAGGC 0.507000 3 45 0 0 0.115264 0 0 COPB1 1315 broad.mit.edu 37 11 14507918 14507918 + Missense_Mutation SNP T T C TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr11:14507918T>C ENST00000249923.3 - 7 1132 c.832A>G c.(832-834)Atc>Gtc p.I278V COPB1_ENST00000439561.2_Missense_Mutation_p.I278V NM_016451.4 NP_057535.1 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 278 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 36 AGTACCTTGATTGCAGTTGGT 0.383000 5 158 0 0 0.217242 0 0 NEDD4L 0 broad.mit.edu 37 18 56008358 56008358 + Missense_Mutation SNP A A G TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr18:56008358A>G ENST00000456986.1 + 14 1451 c.851A>G c.(850-852)aAt>aGt p.N284S NEDD4L_ENST00000431212.2_Missense_Mutation_p.N284S|NEDD4L_ENST00000435432.2_Missense_Mutation_p.N264S|NEDD4L_ENST00000382850.4_Missense_Mutation_p.N385S|NEDD4L_ENST00000256830.9_Intron|NEDD4L_ENST00000256832.7_Missense_Mutation_p.N264S|NEDD4L_ENST00000456173.2_Missense_Mutation_p.N264S|NEDD4L_ENST00000586263.1_Missense_Mutation_p.N377S|NEDD4L_ENST00000357895.5_Missense_Mutation_p.N397S|NEDD4L_ENST00000356462.6_Intron|NEDD4L_ENST00000400345.3_Missense_Mutation_p.N405S|NEDD4L_ENST00000589054.1_Intron NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 405 cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 TACTATGTCAATCATAACAAT 0.478000 4 7 0 0 0.150653 0 0 PROM1 8842 broad.mit.edu 37 4 15991422 15991422 + Missense_Mutation SNP A A G TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr4:15991422A>G ENST00000505450.1 - 18 2594 c.1982T>C c.(1981-1983)cTg>cCg p.L661P PROM1_ENST00000508167.1_Missense_Mutation_p.L661P|PROM1_ENST00000510224.1_Missense_Mutation_p.L670P|PROM1_ENST00000447510.2_Missense_Mutation_p.L670P|PROM1_ENST00000543373.1_Missense_Mutation_p.L661P|PROM1_ENST00000540805.1_Missense_Mutation_p.L670P|PROM1_ENST00000539194.1_Missense_Mutation_p.L670P NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 670 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 ATCTCTTTTCAGGGAGTTCCT 0.413000 4 5 0 0 0.217242 0 0 GIGYF2 26058 broad.mit.edu 37 2 233681681 233681681 + Missense_Mutation SNP G G A rs149585458 TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr2:233681681G>A ENST00000373566.3 + 21 2572 c.2375G>A c.(2374-2376)cGg>cAg p.R792Q GIGYF2_ENST00000409547.1_Missense_Mutation_p.R770Q|GIGYF2_ENST00000409451.3_Missense_Mutation_p.R791Q|GIGYF2_ENST00000373563.4_Missense_Mutation_p.R770Q|GIGYF2_ENST00000409196.3_Missense_Mutation_p.R764Q|GIGYF2_ENST00000409480.1_Missense_Mutation_p.R792Q|GIGYF2_ENST00000452341.2_Missense_Mutation_p.R601Q Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 770 Gln-rich.|Glu-rich. E -> G (in Ref. 5; CAD98095). cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) GAAATTCTTCGGCGACAGCAG 0.488000 65 105 0 0 0.139131 0 0 RYR2 6262 broad.mit.edu 37 1 237777663 237777663 + Missense_Mutation SNP A A T TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr1:237777663A>T ENST00000366574.2 + 37 5552 c.5235A>T c.(5233-5235)aaA>aaT p.K1745N RYR2_ENST00000360064.6_Missense_Mutation_p.K1743N|RYR2_ENST00000542537.1_Missense_Mutation_p.K1729N NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1745 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGAACAAAAAACACGGCCTTC 0.517000 10 19 0 0 0.080935 0 0 EXPH5 23086 broad.mit.edu 37 11 108381685 108381685 + Missense_Mutation SNP G G T TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr11:108381685G>T ENST00000265843.4 - 6 4659 c.4549C>A c.(4549-4551)Cta>Ata p.L1517I EXPH5_ENST00000525344.1_Missense_Mutation_p.L1510I|EXPH5_ENST00000443411.1_Missense_Mutation_p.L1329I|EXPH5_ENST00000428840.1_Missense_Mutation_p.L1441I NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1517 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CCAAGCTGTAGTTTATGCAAT 0.433000 8 27 1.26484e-09 1.38782e-09 0.038147 1 0 MYO15A 51168 broad.mit.edu 37 17 18053797 18053797 + Missense_Mutation SNP G G A TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr17:18053797G>A ENST00000205890.5 + 36 7605 c.7267G>A c.(7267-7269)Ggt>Agt p.G2423S NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 2423 Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) AGGCCAGCCCGGTGGAGGCAG 0.617000 10 37 0 0 0.080935 0 0 MC3R 4159 broad.mit.edu 37 20 54824776 54824776 + Missense_Mutation SNP G G A TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr20:54824776G>A ENST00000243911.2 + 1 989 c.877G>A c.(877-879)Gtc>Atc p.V293I NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 330 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) GTGCAACTCCGTCATCGACCC 0.552000 6 129 0 0 0.029380 0 0 BRAF 673 broad.mit.edu 37 7 140453154 140453154 + Missense_Mutation SNP T T C TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr7:140453154T>C ENST00000288602.6 - 15 1841 c.1781A>G c.(1780-1782)gAt>gGt p.D594G NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 594 Protein kinase. D -> G (in NHL). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.D594G(35)|p.D594V(3) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TAGACCAAAATCACCTATTTT 0.373000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 21 82 0 0 0.069288 0 0 EXPH5 23086 broad.mit.edu 37 11 108382533 108382533 + Missense_Mutation SNP G G C TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr11:108382533G>C ENST00000265843.4 - 6 3811 c.3701C>G c.(3700-3702)aCg>aGg p.T1234R EXPH5_ENST00000525344.1_Missense_Mutation_p.T1227R|EXPH5_ENST00000443411.1_Missense_Mutation_p.T1046R|EXPH5_ENST00000428840.1_Missense_Mutation_p.T1158R NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1234 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) AACAGAAAACGTACTAGTCGT 0.373000 24 86 0 0 0.083992 0 0 RPSAP52 0 broad.mit.edu 37 12 66152273 66152273 + RNA SNP T T G TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr12:66152273T>G ENST00000489520.2 - 0 670 NR_026825.2 TCTGACCCACTGAGGGAGCTC 0.498000 5 11 0 0 0.217242 0 0 MS4A6E 245802 broad.mit.edu 37 11 60107365 60107365 + Silent SNP T T A TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr11:60107365T>A ENST00000300182.4 + 3 446 c.381T>A c.(379-381)tcT>tcA p.S127S NM_139249.2 NP_640342.1 Q96DS6 M4A6E_HUMAN membrane-spanning 4-domains, subfamily A, member 6E 127 integral to membrane receptor activity endometrium(2)|kidney(1)|lung(9)|stomach(1) 13 TGCTGGTTTCTACTGTGTTGG 0.493000 68 175 0 0 0.139131 0 0 RPL10L 140801 broad.mit.edu 37 14 47120403 47120403 + Silent SNP G G A TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr14:47120403G>A ENST00000298283.3 - 1 625 c.537C>T c.(535-537)gaC>gaT p.D179D NM_080746.2 NP_542784.1 Q96L21 RL10L_HUMAN ribosomal protein L10-like 179 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1) 27 CTTCAAATTCGTCAGCATTAA 0.517000 25 73 0 0 0.108266 0 0 CLCN2 1181 broad.mit.edu 37 3 184075764 184075764 + Missense_Mutation SNP G G A TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr3:184075764G>A ENST00000265593.4 - 5 772 c.601C>T c.(601-603)Ccg>Tcg p.P201S CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.P201S|CLCN2_ENST00000434054.2_Missense_Mutation_p.P157S|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.P201S NM_004366.5 NP_004357.3 P51788 CLCN2_HUMAN chloride channel, voltage-sensitive 2 201 chloride channel complex voltage-gated chloride channel activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) TTGCCAAGCGGCATCCCGCTG 0.597000 3 43 0 0 0.150653 0 0 NF1 4763 broad.mit.edu 37 17 29663747 29663747 + Nonsense_Mutation SNP T T G TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr17:29663747T>G ENST00000358273.4 + 42 6625 c.6242T>G c.(6241-6243)tTa>tGa p.L2081* NF1_ENST00000356175.3_Nonsense_Mutation_p.L2060* NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2081 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ATTGCTATTTTAGCACGCTAC 0.408000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 23 60 0 0 0.083992 0 0 SPHKAP 80309 broad.mit.edu 37 2 228890206 228890206 + Silent SNP G G A TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr2:228890206G>A ENST00000392056.3 - 5 391 c.345C>T c.(343-345)atC>atT p.I115I SPHKAP_ENST00000344657.5_Silent_p.I115I NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 115 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TCATGGAACTGATAAGTTTTG 0.363000 5 96 0 0 0.217242 0 0 PLOD1 5351 broad.mit.edu 37 1 12034759 12034759 + Missense_Mutation SNP G G T TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr1:12034759G>T ENST00000196061.4 + 19 2105 c.2078G>T c.(2077-2079)aGg>aTg p.R693M PLOD1_ENST00000376369.3_Missense_Mutation_p.R740M NM_000302.3 NP_000293.2 Q02809 PLOD1_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 693 Fe2OG dioxygenase. epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) CGAGCCCCAAGGAAGGGCTGG 0.647000 3 30 0.115264 0.119814 0.115264 1 0 SFI1 9814 broad.mit.edu 37 22 32013006 32013006 + Missense_Mutation SNP G G C rs143349198 by1000genomes TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr22:32013006G>C ENST00000432498.1 + 30 3754 c.3361G>C c.(3361-3363)Gaa>Caa p.E1121Q SFI1_ENST00000540643.1_Missense_Mutation_p.E1097Q|SFI1_ENST00000474741.1_Intron|SFI1_ENST00000443326.1_Missense_Mutation_p.E1070Q|SFI1_ENST00000443011.1_Missense_Mutation_p.E999Q|SFI1_ENST00000414585.1_Silent_p.L997L|SFI1_ENST00000400288.2_Missense_Mutation_p.E1152Q|SFI1_ENST00000400289.1_Missense_Mutation_p.E1070Q NM_014775.3 NP_055590.2 A8K8P3 SFI1_HUMAN Sfi1 homolog, spindle assembly associated (yeast) 1152 G2/M transition of mitotic cell cycle centriole|cytosol NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 CCTTGAGGCTGAACTTGAGGA 0.567000 16 28 0 0 0.175082 0 0 SLC26A3 1811 broad.mit.edu 37 7 107423751 107423751 + Missense_Mutation SNP C C T TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr7:107423751C>T ENST00000340010.5 - 9 1202 c.1018G>A c.(1018-1020)Gta>Ata p.V340I SLC26A3_ENST00000422236.2_Missense_Mutation_p.V305I NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 340 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 CAATCTCCTACGGTGTTTTGG 0.418000 19 77 0 0 0.204396 0 0 GGT1 2678 broad.mit.edu 37 22 25019873 25019873 + Missense_Mutation SNP A A G TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr22:25019873A>G ENST00000400382.1 + 11 1765 c.1010A>G c.(1009-1011)gAt>gGt p.D337G GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400383.1_Missense_Mutation_p.D337G|GGT1_ENST00000400380.1_Missense_Mutation_p.D337G|GGT1_ENST00000248923.4_Missense_Mutation_p.D337G|GGT1_ENST00000406383.2_Missense_Mutation_p.D337G P19440 GGT1_HUMAN gamma-glutamyltransferase 1 337 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) AAGTTTGTGGATGTGACTGAG 0.627000 3 17 0 0 0.115264 0 0 DEPDC5 9681 broad.mit.edu 37 22 32302244 32302244 + Missense_Mutation SNP C C T TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr22:32302244C>T ENST00000266091.3 + 42 4649 c.4507C>T c.(4507-4509)Cgg>Tgg p.R1503W DEPDC5_ENST00000535622.1_Missense_Mutation_p.R1425W|DEPDC5_ENST00000539165.1_Missense_Mutation_p.R342W|DEPDC5_ENST00000400246.1_Silent_p.S1504S|DEPDC5_ENST00000400248.1_Missense_Mutation_p.R1494W|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R1494W|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000382111.2_Silent_p.S1504S|DEPDC5_ENST00000382112.3_Missense_Mutation_p.R1516W O75140 DEPD5_HUMAN DEP domain containing 5 1494 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 AGGGCAGCAGCGGCGGCGGCG 0.607000 9 26 0 0 0.119110 0 0 UBE2M 9040 broad.mit.edu 37 19 59068093 59068093 + Missense_Mutation SNP T T C TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr19:59068093T>C ENST00000253023.3 - 4 886 c.308A>G c.(307-309)aAc>aGc p.N103S NM_003969.3 NP_003960.1 P61081 UBC12_HUMAN ubiquitin-conjugating enzyme E2M 103 protein neddylation ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity large_intestine(1)|lung(2)|ovary(1)|pancreas(1) 5 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) GAGGTCAATGTTGGGGTGATA 0.582000 16 30 0 0 0.160694 0 0 ACSM2A 123876 broad.mit.edu 37 16 20476848 20476848 + Nonsense_Mutation SNP C C T rs146541514 TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr16:20476848C>T ENST00000573854.1 + 3 301 c.187C>T c.(187-189)Cga>Tga p.R63* ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000575690.1_Nonsense_Mutation_p.R63*|ACSM2A_ENST00000424070.1_Nonsense_Mutation_p.R63*|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Nonsense_Mutation_p.R63*|ACSM2A_ENST00000396104.2_Nonsense_Mutation_p.R63*|ACSM2A_ENST00000417235.2_5'UTR NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 63 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 GGCTGGCAAGCGACTCCCAAG 0.517000 6 23 0 0 0.029380 0 0 MUM1L1 139221 broad.mit.edu 37 X 105449891 105449891 + Missense_Mutation SNP G G A TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chrX:105449891G>A ENST00000337685.2 + 5 1251 c.466G>A c.(466-468)Gca>Aca p.A156T MUM1L1_ENST00000357175.2_Missense_Mutation_p.A156T|MUM1L1_ENST00000372552.1_Missense_Mutation_p.A156T NM_152423.4 NP_689636.3 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 156 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 ATGCTTGTTAGCATCTTCAGA 0.413000 13 6 0 0 0.105934 0 0 PDIA6 10130 broad.mit.edu 37 2 10929977 10929977 + Silent SNP G G A TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr2:10929977G>A ENST00000404371.2 - 10 1231 c.894C>T c.(892-894)ggC>ggT p.G298G PDIA6_ENST00000381611.4_Silent_p.G251G|PDIA6_ENST00000540494.1_Silent_p.G243G|PDIA6_ENST00000404824.2_Silent_p.G294G|PDIA6_ENST00000272227.3_Silent_p.G246G Q15084 PDIA6_HUMAN protein disulfide isomerase family A, member 6 246 cell redox homeostasis|glycerol ether metabolic process|protein folding endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2) 18 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15) CAGGAGACTCGCCTTTCTGAA 0.423000 21 54 0 0 0.069288 0 0 SDK2 54549 broad.mit.edu 37 17 71410870 71410870 + Silent SNP G G A TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr17:71410870G>A ENST00000392650.3 - 18 2397 c.2397C>T c.(2395-2397)caC>caT p.H799H SDK2_ENST00000388726.3_Silent_p.H799H NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 799 Fibronectin type-III 3. cell adhesion integral to membrane p.H799H(1) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 TGGCTTCCGCGTGCACATTGC 0.597000 14 25 0 0 0.160694 0 0 CCKAR 886 broad.mit.edu 37 4 26483467 26483467 + Silent SNP G G A rs150897748 TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr4:26483467G>A ENST00000295589.3 - 5 1274 c.1080C>T c.(1078-1080)taC>taT p.Y360Y NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 360 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) AGGAGGAGGTGTAGGACAGGA 0.627000 20 81 0 0 0.204396 0 0 SBSPON 157869 broad.mit.edu 37 8 73993373 73993373 + Missense_Mutation SNP C C T TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr8:73993373C>T ENST00000297354.6 - 2 494 c.290G>A c.(289-291)cGg>cAg p.R97Q SBSPON_ENST00000519697.1_5'UTR NM_153225.3 NP_694957.3 Q8IVN8 RPESP_HUMAN somatomedin B and thrombospondin, type 1 domain containing 97 TSP type-1. immune response extracellular region polysaccharide binding|scavenger receptor activity CGAGCGCCTCCGCACACGGGT 0.657000 5 86 0 0 0.184627 0 0 CDK12 51755 broad.mit.edu 37 17 37687042 37687042 + Missense_Mutation SNP C C A TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr17:37687042C>A ENST00000447079.4 + 14 3979 c.3946C>A c.(3946-3948)Ctg>Atg p.L1316M CDK12_ENST00000430627.2_Missense_Mutation_p.L1307M NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 1316 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 TCCTGGCCACCTGCCACATGA 0.582000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 4 102 0.00909568 0.00958078 0.150653 1 0 DDC 1644 broad.mit.edu 37 7 50611629 50611629 + Missense_Mutation SNP G G A TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr7:50611629G>A ENST00000444124.2 - 2 355 c.155C>T c.(154-156)aCg>aTg p.T52M DDC_ENST00000431062.1_Missense_Mutation_p.T52M|DDC_ENST00000380984.4_Missense_Mutation_p.T52M|DDC_ENST00000357936.5_Missense_Mutation_p.T52M|DDC_ENST00000426377.1_Missense_Mutation_p.T52M NM_001082971.1 NP_001076440.1 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 52 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) GTCCTCAAACGTGTCTGGCTC 0.557000 37 136 0 0 0.225048 0 0 ANKZF1 55139 broad.mit.edu 37 2 220100575 220100575 + Missense_Mutation SNP C C T TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr2:220100575C>T ENST00000323348.5 + 12 2123 c.1949C>T c.(1948-1950)gCc>gTc p.A650V ANKZF1_ENST00000409849.1_Missense_Mutation_p.A440V|ANKZF1_ENST00000410034.3_Missense_Mutation_p.A650V NM_018089.2 NP_060559.2 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 1 650 intracellular zinc ion binding breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 23 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGGCGATTTGCCGCCCTCAGT 0.622000 4 102 0 0 0.150653 0 0 AC008103.5 0 broad.mit.edu 37 22 18845995 18845995 + RNA SNP T T C TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr22:18845995T>C ENST00000412938.1 + 0 3353 CATCCCGTCCTGCGCAGGCCG 0.592000 4 38 0 0 0.217242 0 0 Z84812.4 0 broad.mit.edu 37 16 84036 84053 + RNA DEL GGGAGCCTGGAAGCACAC GGGAGCCTGGAAGCACAC - rs3743872 by1000genomes TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr16:84036_84053delGGGAGCCTGGAAGCACAC ENST00000568710.1 - 0 349 CTTGTCTCTGGGGAGCCTGGAAGCACACGGGCTGGCTA 0.633 3 4 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29548901 29548901 + Frame_Shift_Del DEL G G - TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 896ec7d7-5443-49bb-969b-7b483e9b518c 3bc825bc-5589-4e0b-b380-38fceee3231b g.chr17:29548901delG ENST00000358273.4 + 15 2058 c.1675delG c.(1675-1677)atfs p.D559fs NF1_ENST00000356175.3_Frame_Shift_Del_p.D559fs|NF1_ENST00000431387.4_Frame_Shift_Del_p.D559fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 559 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AGATAGCATTGATTTGTGGAA 0.289 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 23 45 --- --- --- ---