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 KAT6A 7994 broad.mit.edu 37 8 41790659 41790659 + Silent SNP T T G TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr8:41790659T>G ENST00000396930.3 - 18 5622 c.5079A>C c.(5077-5079)ccA>ccC p.P1693P KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1693 Gln/Pro-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ggggagggggtgggggtggag 0.627000 9 14 0 0 1 0 0 PADI2 11240 broad.mit.edu 37 1 17418910 17418910 + Silent SNP G G A TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr1:17418910G>A ENST00000375486.4 - 6 711 c.648C>T c.(646-648)taC>taT p.Y216Y PADI2_ENST00000444885.2_Intron|PADI2_ENST00000375481.1_Silent_p.Y216Y NM_007365.2 NP_031391.2 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 216 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) CACTCTCCACGTAGAACACGC 0.577000 28 41 0 0 1 0 0 MRPL17 63875 broad.mit.edu 37 11 6704527 6704527 + Translation_Start_Site SNP T T C rs140275479 TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr11:6704527T>C ENST00000288937.6 - 1 105 c.1A>G c.(1-3)Atg>Gtg p.M1V NM_022061.3 NP_071344.1 Q9NRX2 RM17_HUMAN mitochondrial ribosomal protein L17 1 translation ribosome protein domain specific binding|structural constituent of ribosome lung(4) 4 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GACAGCCGCATGTTTCCAACT 0.622000 OREG0020719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 27 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65226641 65226641 + RNA SNP G G T TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr7:65226641G>T ENST00000442266.1 + 0 1167 AGGTTCTTGCGCAGAATTCTG 0.383000 3 32 0.115264 0.116822 1 1 0 CNOT2 4848 broad.mit.edu 37 12 70726595 70726595 + Missense_Mutation SNP C C G TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr12:70726595C>G ENST00000229195.3 + 7 1197 c.618C>G c.(616-618)aaC>aaG p.N206K CNOT2_ENST00000418359.3_Missense_Mutation_p.N206K|CNOT2_ENST00000548230.1_3'UTR NM_014515.5 NP_055330.1 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 206 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1) 20 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) GAATGAATAACTCCTTATCAA 0.318000 29 60 0 0 1 0 0 FAM129B 64855 broad.mit.edu 37 9 130293979 130293979 + Missense_Mutation SNP C C T TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr9:130293979C>T ENST00000373312.3 - 2 347 c.134G>A c.(133-135)cGc>cAc p.R45H FAM129B_ENST00000373314.3_Missense_Mutation_p.R32H|FAM129B_ENST00000468379.1_5'UTR NM_022833.2 NP_073744.2 Q96TA1 NIBL1_HUMAN family with sequence similarity 129, member B 45 protein binding p.R45H(1) breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 AATCTCATGGCGCATGCTGTT 0.577000 22 104 0 0 1 0 0 LAPTM4B 55353 broad.mit.edu 37 8 98788017 98788017 + Missense_Mutation SNP T T C TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr8:98788017T>C ENST00000445593.2 + 1 733 c.53T>C c.(52-54)gTc>gCc p.V18A LAPTM4B_ENST00000521545.2_5'UTR NM_018407.4 NP_060877.3 Q86VI4 LAP4B_HUMAN lysosomal protein transmembrane 4 beta 71 transport endomembrane system|integral to membrane protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 10 Breast(36;1.59e-06) OV - Ovarian serous cystadenocarcinoma(57;0.149) CCCCTCCCCGTCCCCGCCGCT 0.711000 5 3 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58207144 58207144 + Missense_Mutation SNP G G C TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr13:58207144G>C ENST00000377918.3 + 1 490 c.464G>C c.(463-465)aGc>aCc p.S155T NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 155 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CCCCTCACCAGCGCACATGAC 0.642000 7 48 0 0 1 0 0 PCDHGA2 0 broad.mit.edu 37 5 140719479 140719479 + Missense_Mutation SNP T T A TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr5:140719479T>A ENST00000394576.2 + 1 941 c.941T>A c.(940-942)tTc>tAc p.F314Y PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATGCTACATTCCATGAAATT 0.428000 17 269 0 0 1 0 0 GLB1L3 112937 broad.mit.edu 37 11 134147259 134147259 + Silent SNP C C T TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr11:134147259C>T ENST00000389887.5 + 2 2559 c.63C>T c.(61-63)ttC>ttT p.F21F GLB1L3_ENST00000431683.2_Silent_p.F21F Q8NCI6 GLBL3_HUMAN galactosidase, beta 1-like 3 21 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1) 13 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) GCATCTTTTTCCTGCCATTTA 0.542000 5 45 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725567 32725567 + Missense_Mutation SNP C C T rs114234640 byFrequency TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr6:32725567C>T ENST00000435145.2 - 4 801 c.740G>A c.(739-741)cGt>cAt p.R247H HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R247H Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 ACCCCTGTGACGGATGATAAG 0.552000 5 28 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871058 170871058 + Silent SNP G G A rs113440919 TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr6:170871058G>A ENST00000392092.2 + 3 513 c.234G>A c.(232-234)caG>caA p.Q78Q TBP_ENST00000540980.1_Silent_p.Q58Q|TBP_ENST00000230354.6_Silent_p.Q78Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 78 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.577000 4 50 0 0 1 0 0 RRP9 9136 broad.mit.edu 37 3 51967796 51967796 + Splice_Site SNP A A C TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr3:51967796A>C ENST00000232888.6 - 14 1335 c.1260_splice c.e14-1 p.V421_splice NM_004704.3 NP_004695.1 O43818 U3IP2_HUMAN ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) 421 rRNA processing nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex RNA binding breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1) 21 BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724) GATAAAACCCACCTGAGCAGA 0.572000 10 174 0 0 1 0 0 EEF1DP3 0 broad.mit.edu 37 13 32527475 32527475 + RNA SNP G G A TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr13:32527475G>A ENST00000428783.1 + 0 1175 GCAGAGTGTCGACATCGCAGC 0.498000 6 60 0 0 1 0 0 SLC12A3 0 broad.mit.edu 37 16 56921899 56921899 + Silent SNP G G A TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr16:56921899G>A ENST00000438926.2 + 18 2270 c.2241G>A c.(2239-2241)caG>caA p.Q747Q SLC12A3_ENST00000262502.5_Silent_p.Q746Q|SLC12A3_ENST00000563236.1_Silent_p.Q747Q|SLC12A3_ENST00000566786.1_Silent_p.Q746Q NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330.2|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 747 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) AGAACTGGCAGTCGGCTCACC 0.587000 11 100 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82545175 82545175 + Missense_Mutation SNP G G A TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr7:82545175G>A ENST00000423517.2 - 7 12464 c.12127C>T c.(12127-12129)Cca>Tca p.P4043S PCLO_ENST00000437081.1_Missense_Mutation_p.P763S|PCLO_ENST00000333891.8_Missense_Mutation_p.P4043S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3974 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TAATTTCGTGGAGTATGGTGA 0.408000 6 58 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 6 125 0 0 1 0 0 ETV6 2120 broad.mit.edu 37 12 11992227 11992227 + Missense_Mutation SNP C C G TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr12:11992227C>G ENST00000396373.4 + 3 591 c.317C>G c.(316-318)tCt>tGt p.S106C NM_001987.4 NP_001978.1 P41212 ETV6_HUMAN ets variant 6 106 PNT. cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.Y104fs*14(1) ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) CGCTATCGATCTCCTCATTCA 0.463000 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 5 78 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373000 5 416 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62036690 62036690 + Missense_Mutation SNP G G A TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr17:62036690G>A ENST00000578147.1 - 12 2030 c.1954C>T c.(1954-1956)Ctc>Ttc p.L652F SCN4A_ENST00000435607.1_Missense_Mutation_p.L652F P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 652 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) ACCAGGCTGAGGGTGACGATG 0.562000 13 52 0 0 1 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23830190 23830190 + Missense_Mutation SNP C C T TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr4:23830190C>T ENST00000264867.2 - 5 709 c.590G>A c.(589-591)tGt>tAt p.C197Y PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 197 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) TTGCTGTTGACAAATACTCTT 0.408000 40 94 0 0 1 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155920805 155920805 + Missense_Mutation SNP G G A TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr1:155920805G>A ENST00000368316.1 - 24 2904 c.2434C>T c.(2434-2436)Cgg>Tgg p.R812W ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R840W|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R839W|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R841W|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R812W Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 840 actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) TCACTCTCCCGGAGCCGGGCC 0.706000 17 15 0 0 1 0 0 OBSL1 23363 broad.mit.edu 37 2 220432495 220432495 + Silent SNP G G A TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr2:220432495G>A ENST00000404537.1 - 3 1535 c.1479C>T c.(1477-1479)ggC>ggT p.G493G OBSL1_ENST00000603926.1_Silent_p.G493G|OBSL1_ENST00000289656.3_Silent_p.G80G|OBSL1_ENST00000373873.4_Silent_p.G493G|OBSL1_ENST00000265318.4_Silent_p.G493G|OBSL1_ENST00000373876.1_Silent_p.G493G NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 493 cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) AGGTGACCTCGCCAGCATCCT 0.627000 4 88 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 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) 28 12 0 0 1 0 0 IRF4 3662 broad.mit.edu 37 6 407544 407544 + Silent SNP C C T TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr6:407544C>T ENST00000380956.4 + 9 1428 c.1302C>T c.(1300-1302)atC>atT p.I434I NM_001195286.1|NM_002460.3 NP_001182215.1|NP_002451.2 Q15306 IRF4_HUMAN interferon regulatory factor 4 434 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) CAGAACACATCAGCAATCCAG 0.358000 T IGH@ MM 17 54 0 0 1 0 0 IL1RL1 9173 broad.mit.edu 37 2 102968090 102968090 + Silent SNP C C T rs112596146 TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr2:102968090C>T ENST00000233954.1 + 11 1651 c.1380C>T c.(1378-1380)taC>taT p.Y460Y NM_016232.4 NP_057316.3 Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 460 TIR. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity p.Y460Y(1) NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 AGTTTGCCTACGAGCAGGAGG 0.527000 32 57 0 0 1 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 4 67 0 0 1 0 0 GALNTL6 442117 broad.mit.edu 37 4 173873279 173873279 + Missense_Mutation SNP A A G TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr4:173873279A>G ENST00000506823.1 + 10 1898 c.1241A>G c.(1240-1242)gAc>gGc p.D414G GALNTL6_ENST00000508122.1_Missense_Mutation_p.D397G NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 414 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 TCCACGGGGGACATCTCTGCC 0.567000 37 80 0 0 1 0 0 USE1 55850 broad.mit.edu 37 19 17330605 17330605 + Missense_Mutation SNP A A G TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr19:17330605A>G ENST00000445667.2 + 8 823 c.763A>G c.(763-765)Atg>Gtg p.M255V USE1_ENST00000263897.5_Missense_Mutation_p.M255V|USE1_ENST00000379776.4_3'UTR|USE1_ENST00000596136.1_3'UTR Q9NZ43 USE1_HUMAN unconventional SNARE in the ER 1 homolog (S. cerevisiae) 255 lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane protein binding breast(2)|endometrium(1)|lung(3) 6 CATTCGAATCATGCCTAAACT 0.522000 4 188 0 0 1 0 0 MPO 4353 broad.mit.edu 37 17 56355276 56355276 + Silent SNP G G A TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr17:56355276G>A ENST00000340482.3 - 6 1388 c.1212C>T c.(1210-1212)aaC>aaT p.N404N MPO_ENST00000225275.3_Silent_p.N372N|MPO_ENST00000578493.1_5'UTR P05164 PERM_HUMAN myeloperoxidase 372 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) GGGCCCGGCCGTTGTCTTGGA 0.652000 41 55 0 0 1 0 0 RHOT1 55288 broad.mit.edu 37 17 30503008 30503008 + Missense_Mutation SNP G G A TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr17:30503008G>A ENST00000358365.3 + 5 477 c.250G>A c.(250-252)Gtt>Att p.V84I RHOT1_ENST00000581094.1_Missense_Mutation_p.V84I|RHOT1_ENST00000545287.2_Missense_Mutation_p.V84I|RHOT1_ENST00000354266.3_Missense_Mutation_p.V63I|RHOT1_ENST00000333942.6_Missense_Mutation_p.V84I|RHOT1_ENST00000583994.1_5'UTR|RHOT1_ENST00000580976.1_Intron|RHOT1_ENST00000394692.2_Missense_Mutation_p.V84I NM_001033568.1 NP_001028740.1 Q8IXI2 MIRO1_HUMAN ras homolog family member T1 84 Miro 1. apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182) AGTGTATGCCGTTAACAACAA 0.308000 3 22 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133353241 133353241 + Silent SNP T T C TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr12:133353241T>C ENST00000204726.3 - 21 4515 c.3957A>G c.(3955-3957)gaA>gaG p.E1319E GOLGA3_ENST00000450791.2_Silent_p.E1319E|GOLGA3_ENST00000456883.2_Silent_p.E1319E NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 1319 Gln-rich. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GCTGTAGCCCTTCCAGTTCCT 0.587000 5 144 0 0 1 0 0 CD300LB 124599 broad.mit.edu 37 17 72522000 72522000 + Missense_Mutation SNP G G A TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr17:72522000G>A ENST00000392621.1 - 2 372 c.368C>T c.(367-369)aCg>aTg p.T123M CD300LB_ENST00000314401.3_Missense_Mutation_p.T123M NM_174892.2 NP_777552.2 A8K4G0 CLM7_HUMAN CD300 molecule-like family member b 86 integral to membrane|plasma membrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1) 21 CACAGTGAACGTGCGGTCTTT 0.522000 4 209 0 0 1 0 0 GUCY2F 2986 broad.mit.edu 37 X 108718947 108718947 + Missense_Mutation SNP C C A TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chrX:108718947C>A ENST00000218006.2 - 2 510 c.219G>T c.(217-219)gaG>gaT p.E73D NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 73 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 GCGCAGCAACCTCAGGCAGGG 0.517000 OREG0019905 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 197 2.31682e-05 2.3803e-05 1 1 0 OR5T3 390154 broad.mit.edu 37 11 56020474 56020474 + Missense_Mutation SNP G G A TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr11:56020474G>A ENST00000303059.3 + 1 799 c.799G>A c.(799-801)Gcc>Acc p.A267T NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) AAGGCAAAAGGCCTTCTCTAC 0.423000 27 135 0 0 1 0 0 CARD9 64170 broad.mit.edu 37 9 139266361 139266361 + Missense_Mutation SNP C C T TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr9:139266361C>T ENST00000371732.5 - 2 335 c.170G>A c.(169-171)cGc>cAc p.R57H CARD9_ENST00000371734.3_Missense_Mutation_p.R57H|CARD9_ENST00000315908.7_Missense_Mutation_p.R57H NM_052813.4 NP_434700.2 Q9H257 CARD9_HUMAN caspase recruitment domain family, member 9 57 CARD. positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis cytoplasm CARD domain binding|protein homodimerization activity endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1) 15 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06) TTTCCGTTTGCGGATGACCAG 0.637000 5 408 0 0 1 0 0 HDAC4 9759 broad.mit.edu 37 2 240111713 240111713 + Missense_Mutation SNP C C T TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr2:240111713C>T ENST00000345617.3 - 4 946 c.155G>A c.(154-156)cGc>cAc p.R52H HDAC4_ENST00000541256.1_Missense_Mutation_p.R21H NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 52 B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) GTGGTCCAGGCGCAGGTCCAT 0.667000 7 59 0 0 1 0 0 CARM1 10498 broad.mit.edu 37 19 11022906 11022906 + Missense_Mutation SNP C C T TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr19:11022906C>T ENST00000327064.4 + 5 795 c.605C>T c.(604-606)gCc>gTc p.A202V CARM1_ENST00000344150.4_Missense_Mutation_p.A202V NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 202 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding p.A202V(2) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 TCGTTTTTTGCCGCCCAAGCT 0.622000 5 378 0 0 1 0 0 MAGEA6 4105 broad.mit.edu 37 X 151870086 151870086 + Missense_Mutation SNP G G A TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chrX:151870086G>A ENST00000329342.5 + 3 1001 c.776G>A c.(775-777)cGg>cAg p.R259Q NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 259 MAGE. protein binding p.R259Q(1) breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) CTGGAGTACCGGCAGGTCCCC 0.522000 7 315 0 0 1 0 0 FKBP5 2289 broad.mit.edu 37 6 35547956 35547956 + Missense_Mutation SNP C C A TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr6:35547956C>A ENST00000536438.1 - 10 1198 c.883G>T c.(883-885)Gtg>Ttg p.V295L FKBP5_ENST00000540787.1_Missense_Mutation_p.V116L|FKBP5_ENST00000539068.1_Missense_Mutation_p.V295L|FKBP5_ENST00000357266.4_Missense_Mutation_p.V295L NM_001145775.1 NP_001139247.1 Q13451 FKBP5_HUMAN FK506 binding protein 5 295 protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2) 17 AACCAGGACACTATCTTCCCA 0.433000 26 152 6.32553e-13 6.58909e-13 1 1 0 NOTCH1 4851 broad.mit.edu 37 9 139396809 139396809 + Missense_Mutation SNP G G A TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr9:139396809G>A ENST00000277541.6 - 28 5374 c.5299C>T c.(5299-5301)Ctc>Ttc p.L1767F NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1767 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGGAACCAGAGCTGGCCATGC 0.672000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 9 58 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57112308 57112308 + Silent SNP A A G TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr12:57112308A>G ENST00000454682.1 - 3 3287 c.3006T>C c.(3004-3006)acT>acC p.T1002T NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TGGGGGATGGAGTAGCTGGAC 0.652000 T BCL6 NHL 6 121 0 0 1 0 0 PHF16 0 broad.mit.edu 37 X 46887419 46887419 + Missense_Mutation SNP G G A TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chrX:46887419G>A ENST00000218343.4 + 6 899 c.601G>A c.(601-603)Gtg>Atg p.V201M PHF16_ENST00000397189.1_Missense_Mutation_p.V201M NM_014735.3 NP_055550.1 Q92613 JADE3_HUMAN 201 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2) 33 TGATGAAGATGTGATCTGTGA 0.448000 27 61 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119859 38119859 + Silent SNP C C T rs66505048 TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr22:38119859C>T ENST00000406386.3 + 7 1551 c.1296C>T c.(1294-1296)tgC>tgT p.C432C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 432 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C432C(6) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAACATCCTGCGCCCAGCGGG 0.582000 5 228 0 0 1 0 0 IL27RA 9466 broad.mit.edu 37 19 14157389 14157389 + Nonsense_Mutation SNP G G A TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr19:14157389G>A ENST00000263379.2 + 8 1225 c.1100G>A c.(1099-1101)tGg>tAg p.W367* NM_004843.3 NP_004834.1 Q6UWB1 I27RA_HUMAN interleukin 27 receptor, alpha 367 Fibronectin type-III 2. cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 26 AAACTCAACTGGGTCCGGCTT 0.632000 60 119 0 0 1 0 0 EGR1 1958 broad.mit.edu 37 5 137802589 137802589 + Missense_Mutation SNP C C T rs137878468 TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr5:137802589C>T ENST00000239938.4 + 2 723 c.451C>T c.(451-453)Ccc>Tcc p.P151S NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 151 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CACCTTGTGGCCCGAGCCCCT 0.637000 5 248 0 0 1 0 0 KTI12 112970 broad.mit.edu 37 1 52499413 52499413 + Silent SNP G G A TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr1:52499413G>A ENST00000371614.1 - 1 75 c.21C>T c.(19-21)tgC>tgT p.C7C RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000472624.1_Intron|TXNDC12_ENST00000371626.4_Intron NM_138417.2 NP_612426.1 Q96EK9 KTI12_HUMAN KTI12 homolog, chromatin associated (S. cerevisiae) 7 ATP binding central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1) 12 ACGGCAGCCCGCAAAACACCA 0.672000 3 26 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 5 239 0 0 1 0 0 SERPINI1 5274 broad.mit.edu 37 3 167508340 167508340 + Missense_Mutation SNP A A G TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr3:167508340A>G ENST00000295777.5 + 3 862 c.431A>G c.(430-432)aAt>aGt p.N144S SERPINI1_ENST00000446050.2_Missense_Mutation_p.N144S NM_005025.4 NP_005016.1 Q99574 NEUS_HUMAN serpin peptidase inhibitor, clade I (neuroserpin), member 1 144 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2) 20 TTCAGTCAAAATGTAGCCGTG 0.363000 12 55 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197189831 197189831 + Missense_Mutation SNP G G A TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr2:197189831G>A ENST00000260983.2 - 6 796 c.614C>T c.(613-615)cCt>cTt p.P205L HECW2_ENST00000409111.1_Intron NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 205 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 ATAAGGGTCAGGATTGAAGAA 0.493000 4 164 0 0 1 0 0 PTPRE 5791 broad.mit.edu 37 10 129869084 129869084 + Missense_Mutation SNP G G A TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr10:129869084G>A ENST00000254667.3 + 15 1585 c.1306G>A c.(1306-1308)Gtc>Atc p.V436I PTPRE_ENST00000419012.2_Missense_Mutation_p.V436I|PTPRE_ENST00000306042.5_Missense_Mutation_p.V378I NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 436 Tyrosine-protein phosphatase 2. negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) ATTGACAAATGTCCGGATCAT 0.522000 10 35 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 23 37 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51712705 51712705 + Missense_Mutation SNP G G A TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr6:51712705G>A ENST00000371117.3 - 50 8250 c.7975C>T c.(7975-7977)Ccg>Tcg p.P2659S PKHD1_ENST00000340994.4_Missense_Mutation_p.P2659S NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 2659 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) GGGTAAGGCGGCAAATCTGTG 0.458000 4 171 0 0 1 0 0 IFNAR1 3454 broad.mit.edu 37 21 34717551 34717551 + Splice_Site SNP G G C TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr21:34717551G>C ENST00000270139.3 + 6 825 c.e6-1 IFNAR1_ENST00000416947.2_Splice_Site|IFNAR1_ENST00000442357.2_Splice_Site NM_000629.2 NP_000620.2 P17181 INAR1_HUMAN interferon (alpha, beta and omega) receptor 1 JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway integral to plasma membrane type I interferon receptor activity breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2) 14 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) TTGGCTTCTAGTTGAAAATGA 0.328000 5 29 0 0 1 0 0 DPPA2 151871 broad.mit.edu 37 3 109023364 109023364 + Missense_Mutation SNP G G A TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr3:109023364G>A ENST00000478945.1 - 7 1058 c.812C>T c.(811-813)cCa>cTa p.P271L NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 271 nucleus nucleic acid binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TTCTATGCCTGGGGATGGGAA 0.473000 41 45 0 0 1 0 0 NR3C2 0 broad.mit.edu 37 4 149075976 149075976 + Silent SNP T T G TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr4:149075976T>G ENST00000355292.3 - 5 2465 c.2103A>C c.(2101-2103)ccA>ccC p.P701P NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000358102.3_Silent_p.P697P|RP11-76G10.1_ENST00000514843.1_RNA P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 697 Hinge. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) ggggtgggggtgggggtgggg 0.527000 5 4 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179531582 179531582 + Frame_Shift_Del DEL A A - TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr2:179531582delA ENST00000589042.1 - 163 36068 c.35844delT c.(35842-35844)atfs p.I11948fs TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10096 Pro-rich. 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) TTCTTTTAACAATAGGAGTTT 0.323 2 4 --- --- --- --- CTD-2215E18.1 0 broad.mit.edu 37 5 96518818 96518819 + Frame_Shift_Ins INS - - G TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr5:96518818_96518819insG ENST00000509481.1 + 4 680_681 c.139_140insG c.(139-141)ggtfs p.G47fs RIOK2_ENST00000508447.1_Intron|RIOK2_ENST00000283109.3_Intron urinary_tract(1) 1 ACAGGAACGGCGGGTTTCTTAC 0.569 9 368 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - - G TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr6:31939825_31939826insG ENST00000375331.2 + 1 218_219 c.52_53insG c.(52-54)ggcfs p.G18fs DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCGACAGTGGCGGGCAAACCCC 0.634 8 252 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939829 31939830 + Frame_Shift_Ins INS - - A TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr6:31939829_31939830insA ENST00000375331.2 + 1 222_223 c.56_57insA c.(55-57)gaafs p.E19fs DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 19 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 CAGTGGCGGGCAAACCCCTCCC 0.634 9 205 --- --- --- --- XKR5 389610 broad.mit.edu 37 8 6673270 6673270 + RNA DEL A A - TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr8:6673270delA ENST00000518724.1 - 0 1071 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) AGCCCATTGTAAAAAAAAAAA 0.502 OREG0018511 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 4 --- --- --- --- ROBO3 64221 broad.mit.edu 37 11 124745490 124745491 + Frame_Shift_Ins INS - - G rs140619532 by1000genomes TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr11:124745490_124745491insG ENST00000397801.1 + 15 2522_2523 c.2330_2331insG c.(2329-2331)ggcfs p.G777fs ROBO3_ENST00000538940.1_Frame_Shift_Ins_p.G755fs NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 777 Fibronectin type-III 3. axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) GGAGTGGCGGTGGCCTTGGGGG 0.604 8 40 --- --- --- --- ROBO3 64221 broad.mit.edu 37 11 124750448 124750453 + In_Frame_Del DEL CGGAGT CGGAGT - rs55725290 TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr11:124750448_124750453delCGGAGT ENST00000397801.1 + 27 4285_4290 c.4093_4098delCGGAGT c.(4093-4098)del p.RS1367del ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 1367 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) TGgccggagccggagtcggagtcaga 0.660 6 8 --- --- --- --- AE000661.37 0 broad.mit.edu 37 14 22892202 22892202 + RNA DEL A A - TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr14:22892202delA ENST00000514473.2 - 0 225 AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000535351.1_RNA ctaaaaatacaaaaaaaaaaa 0.547 3 6 --- --- --- --- SLC12A1 6557 broad.mit.edu 37 15 48559802 48559803 + Frame_Shift_Ins INS - - A rs150609105 byFrequency TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr15:48559802_48559803insA ENST00000396577.3 + 18 2414_2415 c.2199_2200insA c.(2197-2202)gcaaaafs p.AK733fs SLC12A1_ENST00000380993.3_Frame_Shift_Ins_p.AK733fs|SLC12A1_ENST00000558405.1_Frame_Shift_Ins_p.AK733fs NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 733 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) GTGGCATGGCGAAAAAACAGGC 0.446 7 103 --- --- --- --- SPG7 6687 broad.mit.edu 37 16 89613072 89613073 + Frame_Shift_Ins INS - - G rs111475461 byFrequency TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chr16:89613072_89613073insG ENST00000268704.2 + 11 1471_1472 c.1456_1457insG c.(1456-1458)ggafs p.G486fs NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 486 R -> Q. cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) GCAGGAGAGGCGGGAGATTTTT 0.594 7 196 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76920192 76920193 + Translation_Start_Site INS - - TCATCAT TCGA-P5-A5F2-01A-11D-A289-08 TCGA-P5-A5F2-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37d51361-c4ad-4907-b18f-66991749ba1f 666497c6-2a20-4949-9a09-13e17e2a00f9 g.chrX:76920192_76920193insTCATCAT ENST00000480283.1 - 0 4221_4222 ATRX_ENST00000395603.3_Frame_Shift_Ins_p.A1257fs|ATRX_ENST00000373344.5_Frame_Shift_Ins_p.A1295fs P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) CTTCTTCTGGCTCATCATCTGA 0.351 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 27 72 --- --- --- ---