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 LDHD 197257 broad.mit.edu 37 16 75146279 75146279 + Missense_Mutation SNP A A G TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr16:75146279A>G ENST00000300051.4 - 11 1545 c.1499T>C c.(1498-1500)cTc>cCc p.L500P LDHD_ENST00000450168.2_Missense_Mutation_p.L477P NM_153486.3 NP_705690.2 Q86WU2 LDHD_HUMAN lactate dehydrogenase D 500 D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1) 16 TGGATTCATGAGGCCTTGGGG 0.622000 3 37 0 0 0.00024832 0 0 CLCN4 1183 broad.mit.edu 37 X 10201603 10201603 + Silent SNP C C T TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chrX:10201603C>T ENST00000380833.4 + 13 2653 c.2262C>T c.(2260-2262)ccC>ccT p.P754P CLCN4_ENST00000421085.2_Silent_p.P660P|CLCN4_ENST00000380829.1_Silent_p.P723P NM_001256944.1|NM_001830.3 NP_001243873.1|NP_001821.2 P51793 CLCN4_HUMAN chloride channel, voltage-sensitive 4 754 CBS 2. early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 ACCAGGACCCCGAATCCATCA 0.363000 4 40 0 0 0.000602214 0 0 KPNA4 3840 broad.mit.edu 37 3 160239585 160239585 + Silent SNP G G A TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr3:160239585G>A ENST00000334256.4 - 11 1190 c.885C>T c.(883-885)caC>caT p.H295H NM_002268.4 NP_002259.1 O00629 IMA4_HUMAN karyopherin alpha 4 (importin alpha 3) 295 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2) 22 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) TAACTTCCTGGTGGCTGAGCA 0.388000 53 79 0 0 0.000781405 0 0 PDYN 5173 broad.mit.edu 37 20 1961249 1961249 + Missense_Mutation SNP T T G TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr20:1961249T>G ENST00000217305.2 - 4 710 c.485A>C c.(484-486)tAt>tCt p.Y162S PDYN_ENST00000539905.1_Missense_Mutation_p.Y162S|PDYN_ENST00000540134.1_Missense_Mutation_p.Y162S|RP4-684O24.5_ENST00000446562.1_RNA NM_001190892.1|NM_001190898.2|NM_024411.4 NP_001177821.1|NP_001177827.1|NP_077722.1 P01213 PDYN_HUMAN prodynorphin 162 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CTCAGCGAGATAGAGTGTGCC 0.597000 5 94 0 0 0.000602214 0 0 GOLGA8IP 283796 broad.mit.edu 37 15 23261077 23261077 + Missense_Mutation SNP G G A TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr15:23261077G>A ENST00000450802.3 + 10 850 c.752G>A c.(751-753)cGg>cAg p.R251Q GAGAGGGCCCGGTGGCAGCAG 0.463000 40 110 0 0 0.000781405 0 0 NAALADL2 254827 broad.mit.edu 37 3 174974236 174974236 + Missense_Mutation SNP G G A TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr3:174974236G>A ENST00000454872.1 + 4 984 c.856G>A c.(856-858)Gat>Aat p.D286N NAALADL2-AS2_ENST00000424690.1_RNA|NAALADL2_ENST00000473253.1_3'UTR NM_207015.2 NP_996898.2 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 2 286 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) AATGGCAGATGATTTAAAAAG 0.363000 14 78 0 0 0.000219431 0 0 PLCB1 23236 broad.mit.edu 37 20 8678323 8678323 + Silent SNP C C T TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr20:8678323C>T ENST00000378641.3 + 11 1535 c.1060C>T c.(1060-1062)Ctg>Ttg p.L354L PLCB1_ENST00000338037.6_Silent_p.L354L|PLCB1_ENST00000378637.2_Silent_p.L354L NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 354 PI-PLC X-box. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 CCAAGTGCTCCTGTCTGGTTG 0.502000 38 86 0 0 0.00111076 0 0 EP300 2033 broad.mit.edu 37 22 41565529 41565529 + Missense_Mutation SNP G G A TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr22:41565529G>A ENST00000263253.7 + 26 5414 c.4195G>A c.(4195-4197)Gat>Aat p.D1399N RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1399 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding p.D1399N(5)|p.D1399Y(2) NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 ATCTTACCTCGATAGTGTTCA 0.338000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 32 24 0 0 0.000409698 0 0 UBR4 23352 broad.mit.edu 37 1 19451143 19451143 + Silent SNP T T G TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr1:19451143T>G ENST00000375267.2 - 65 9483 c.9480A>C c.(9478-9480)ctA>ctC p.L3160L UBR4_ENST00000375254.3_Silent_p.L3160L|UBR4_ENST00000375217.2_Silent_p.L3153L|UBR4_ENST00000375226.2_Silent_p.L3136L Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 3160 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CCATTTCTGTTAGAAGCTGAG 0.423000 14 44 0 0 0.00185496 0 0 SLC30A8 169026 broad.mit.edu 37 8 118170064 118170064 + Missense_Mutation SNP G G A TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr8:118170064G>A ENST00000427715.2 + 7 840 c.406G>A c.(406-408)Gca>Aca p.A136T SLC30A8_ENST00000519688.1_Missense_Mutation_p.A136T|SLC30A8_ENST00000456015.2_Missense_Mutation_p.A185T|SLC30A8_ENST00000521243.1_Missense_Mutation_p.A136T NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 185 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) TTCCAGCTGCGCAGTGGCGGC 0.527000 37 69 0 0 0.000953801 0 0 SLC4A4 8671 broad.mit.edu 37 4 72319250 72319250 + Missense_Mutation SNP C C G rs138493429 byFrequency TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr4:72319250C>G ENST00000340595.3 + 9 1425 c.1229C>G c.(1228-1230)gCg>gGg p.A410G SLC4A4_ENST00000512686.1_Missense_Mutation_p.A410G|SLC4A4_ENST00000351898.6_Missense_Mutation_p.A454G|SLC4A4_ENST00000264485.5_Missense_Mutation_p.A454G|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Missense_Mutation_p.A454G NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 454 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) AAGAGGAAAGCGCCATTTTTT 0.343000 28 113 0 0 0.00127121 0 0 PRR23A 729627 broad.mit.edu 37 3 138724434 138724434 + Missense_Mutation SNP A A G TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr3:138724434A>G ENST00000383163.2 - 1 676 c.677T>C c.(676-678)gTc>gCc p.V226A NM_001134659.1 NP_001128131.1 A6NEV1 PR23A_HUMAN proline rich 23A 226 Pro-rich. endometrium(3)|kidney(1)|lung(7) 11 TGAGCTGGGGACAGGCTCCAG 0.682000 6 17 0 0 8.12818e-05 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 29 0 0 6.4e-05 0 0 ACSL1 2180 broad.mit.edu 37 4 185684332 185684332 + Missense_Mutation SNP C C T TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr4:185684332C>T ENST00000515030.1 - 16 1835 c.1510G>A c.(1510-1512)Ggc>Agc p.G504S ACSL1_ENST00000504342.1_Missense_Mutation_p.G504S|ACSL1_ENST00000513317.1_Missense_Mutation_p.G504S|ACSL1_ENST00000454703.2_Missense_Mutation_p.G333S|ACSL1_ENST00000437665.3_Missense_Mutation_p.G333S|ACSL1_ENST00000507295.1_Missense_Mutation_p.G470S|ACSL1_ENST00000281455.2_Missense_Mutation_p.G504S P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 504 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2) 38 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TCGCCCTCGCCCTCGGCAGCC 0.488000 10 28 0 0 0.000442599 0 0 CYP4A11 1579 broad.mit.edu 37 1 47395831 47395831 + Missense_Mutation SNP G G A rs58897090 TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr1:47395831G>A ENST00000310638.4 - 12 1547 c.1516C>T c.(1516-1518)Ctc>Ttc p.L506F CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.L507F NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 506 NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V). long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) AGCCTCCTGAGACGCAGGTGG 0.577000 4 59 0 0 8.12818e-05 0 0 ARSI 340075 broad.mit.edu 37 5 149676844 149676844 + Missense_Mutation SNP C C A TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr5:149676844C>A ENST00000328668.7 - 2 2222 c.1643G>T c.(1642-1644)tGc>tTc p.C548F NM_001012301.2 NP_001012301.1 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I 548 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCAAATCTTGCATTTTTTCTT 0.527000 48 84 6.61955e-31 5.68679e-30 0.000781405 1 0 GPBP1L1 60313 broad.mit.edu 37 1 46099783 46099784 + Frame_Shift_Ins INS - - A TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr1:46099783_46099784insA ENST00000355105.3 - 9 2229_2230 c.869_870insT c.(868-870)cagfs p.Q290fs GPBP1L1_ENST00000290795.3_Frame_Shift_Ins_p.Q290fs|GPBP1L1_ENST00000479235.1_5'UTR NM_021639.4 NP_067652.1 Q9HC44 GPBL1_HUMAN GC-rich promoter binding protein 1-like 1 290 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding GPBP1L1/MAST2_ENST00000361297(2) breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1) 21 Acute lymphoblastic leukemia(166;0.155) TGGGAGAACTCAGAGCTGCACC 0.465 22 56 --- --- --- --- ALK 238 broad.mit.edu 37 2 29451771 29451772 + Frame_Shift_Del DEL CA CA - TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr2:29451771_29451772delCA ENST00000389048.3 - 16 3699_3700 c.2793_2794delTG c.(2791-2796)gggafs p.GG935fs ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 935 Gly-rich. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CCGCCTCCTCCACCTGAGGAGC 0.619 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 12 33 --- --- --- --- TIMMDC1 51300 broad.mit.edu 37 3 119219666 119219667 + Frame_Shift_Ins INS - - AG TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr3:119219666_119219667insAG ENST00000494664.1 + 2 521_522 c.319_320insAG c.(319-321)gagfs p.E107fs TIMMDC1_ENST00000493694.1_Intron NM_016589.3 NP_057673.2 Q9NPL8 TIDC1_HUMAN translocase of inner mitochondrial membrane domain containing 1 107 integral to membrane|mitochondrial inner membrane protein transporter activity autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 15 ATACATTGAGCAGAGCCAGGCA 0.421 42 66 --- --- --- --- FSTL5 56884 broad.mit.edu 37 4 162307557 162307558 + Frame_Shift_Ins INS - - T TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr4:162307557_162307558insT ENST00000306100.5 - 16 2321_2322 c.1885_1886insA c.(1885-1887)tgafs p.*629fs FSTL5_ENST00000379164.4_Frame_Shift_Ins_p.*628fs|FSTL5_ENST00000536695.1_Frame_Shift_Ins_p.*628fs|FSTL5_ENST00000427802.2_Frame_Shift_Ins_p.*619fs|RP11-234O6.2_ENST00000508189.1_RNA NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 629 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TTCAAGATCAATTTTTTGTAGT 0.361 13 36 --- --- --- --- NUGGC 389643 broad.mit.edu 37 8 27925899 27925899 + Frame_Shift_Del DEL A A - TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr8:27925899delA ENST00000413272.2 - 5 456 c.314delT c.(313-315)tafs p.L105fs NUGGC_ENST00000341513.6_Frame_Shift_Del_p.L105fs NM_001010906.1 NP_001010906.1 nuclear GTPase, germinal center associated GCTTCCAAATAATGCAATGTA 0.433 2 4 --- --- --- --- ALPK3 57538 broad.mit.edu 37 15 85383922 85383922 + Frame_Shift_Del DEL C C - rs143709902 byFrequency TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr15:85383922delC ENST00000258888.5 + 5 2185 c.2018delC c.(2017-2019)acfs p.T673fs NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 673 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) CACTCCTTGACCCCCCAGCCG 0.617 17 55 --- --- --- --- IL34 146433 broad.mit.edu 37 16 70693992 70693993 + Frame_Shift_Ins INS - - AGCTG TCGA-CV-7100-01A-11D-2012-08 TCGA-CV-7100-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21a5e1f-84b8-4e6f-8230-03d31cc7c431 3951a376-81b0-4843-b3c0-ca1b0f6efffb g.chr16:70693992_70693993insAGCTG ENST00000429149.2 + 7 1186_1187 c.631_632insAGCTG c.(631-633)gctfs p.A211fs IL34_ENST00000566361.1_Frame_Shift_Ins_p.A186fs|IL34_ENST00000288098.2_Frame_Shift_Ins_p.A211fs NM_001172771.1|NM_152456.2 NP_001166242.1|NP_689669.2 Q6ZMJ4 IL34_HUMAN interleukin 34 211 positive regulation of cell proliferation|positive regulation of protein phosphorylation extracellular space cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2) 17 TGCGGCCACCCAGCTGTACCCT 0.649 24 120 --- --- --- ---