#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_type
CA6	765	broad.mit.edu	37	1	9019055	9019055	+	Silent	SNP	C	C	T			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr1:9019055C>T	ENST00000377443.2	+	4	499	c.495C>T	c.(493-495)ttC>ttT	p.F165F	CA6_ENST00000377436.3_Silent_p.F165F|CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377442.2_Silent_p.F105F	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	165					bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.F165F(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	TGGCAGCCTTCGTTGAGGTAA	0.408																																																1	Substitution - coding silent(1)	ovary(1)	1											136.0	139.0	138.0					1																	9019055		2203	4300	6503	8941642	SO:0001819	synonymous_variant	765			M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"""Carbonic anhydrases"""	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.495C>T	1.37:g.9019055C>T		Unknown		x	x	x	8941642	E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Silent	SNP	ENST00000377443.2	37	CCDS30578.1	SNP	31	Broad																																																																																				0.408	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1			Silent
SERINC2	347735	broad.mit.edu	37	1	31902284	31902284	+	Silent	SNP	C	C	T			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr1:31902284C>T	ENST00000373709.3	+	8	1062	c.912C>T	c.(910-912)aaC>aaT	p.N304N	SERINC2_ENST00000536859.1_Silent_p.N308N|SERINC2_ENST00000536384.1_Silent_p.N308N|SERINC2_ENST00000373710.1_Silent_p.N313N|AC114494.1_ENST00000596131.1_Missense_Mutation_p.V111I|SERINC2_ENST00000491976.1_3'UTR	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	304					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)	p.N304N(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		AGCTGGGCAACGAGACAGTTG	0.592																																																1	Substitution - coding silent(1)	ovary(1)	1											97.0	92.0	94.0					1																	31902284		2203	4300	6503	31674871	SO:0001819	synonymous_variant	347735			AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"""tumor differentially expressed 2-like"""	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.912C>T	1.37:g.31902284C>T		Unknown		x	x	x	31674871	A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Silent	SNP	ENST00000373709.3	37	CCDS30662.1	SNP	19	Broad																																																																																				0.592	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010680.1	NM_018565		Silent
DLGAP3	58512	broad.mit.edu	37	1	35370973	35370973	+	Silent	SNP	G	G	A			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr1:35370973G>A	ENST00000373347.1	-	3	280	c.12C>T	c.(10-12)taC>taT	p.Y4Y	DLGAP3_ENST00000235180.4_Silent_p.Y4Y|DLGAP3_ENST00000495979.1_5'UTR			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	4					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.Y4Y(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGTCGCCATGGTAACCCCTCA	0.592																																																1	Substitution - coding silent(1)	ovary(1)	1											3.0	3.0	3.0					1																	35370973		1987	3965	5952	35143560	SO:0001819	synonymous_variant	58512			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.12C>T	1.37:g.35370973G>A		Unknown		x	x	x	35143560	Q5TDD5|Q9H3X7	Silent	SNP	ENST00000373347.1	37	CCDS30670.1	SNP	44	Broad																																																																																				0.592	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		Silent
STK40	83931	broad.mit.edu	37	1	36814314	36814314	+	Silent	SNP	G	G	A			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr1:36814314G>A	ENST00000373129.3	-	8	1132	c.726C>T	c.(724-726)ccC>ccT	p.P242P	STK40_ENST00000373132.3_Silent_p.P242P|STK40_ENST00000373130.3_Silent_p.P247P|STK40_ENST00000359297.2_Silent_p.P242P	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	242	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P242P(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				TGAGCACGTCGGGACTGATGT	0.582																																																2	Substitution - coding silent(2)	ovary(2)	1											105.0	80.0	88.0					1																	36814314		2203	4299	6502	36586901	SO:0001819	synonymous_variant	83931			BC008344	CCDS407.1, CCDS60089.1	1p34.3	2008-02-05			ENSG00000196182	ENSG00000196182			21373	protein-coding gene	gene with protein product		609437					Standard	NM_032017		Approved	MGC4796, SgK495	uc001cak.1	Q8N2I9	OTTHUMG00000008238	ENST00000373129.3:c.726C>T	1.37:g.36814314G>A		Unknown		x	x	x	36586901	D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	Silent	SNP	ENST00000373129.3	37	CCDS407.1	SNP	39	Broad																																																																																				0.582	STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022592.1	NM_032017		Silent
ASPM	259266	broad.mit.edu	37	1	197071077	197071077	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr1:197071077A>G	ENST00000367409.4	-	18	7560	c.7304T>C	c.(7303-7305)aTt>aCt	p.I2435T	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2435	IQ 25. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.I2435T(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTGAACAAAAATAGTAGCTTT	0.373																																																1	Substitution - Missense(1)	ovary(1)	1											84.0	87.0	86.0					1																	197071077		2203	4296	6499	195337700	SO:0001583	missense	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7304T>C	1.37:g.197071077A>G	ENSP00000356379:p.Ile2435Thr	Unknown		x	x	x	195337700	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	SNP	4	Broad	.	.	.	.	.	.	.	.	.	.	a	10.96	1.498112	0.26861	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.73469	-0.75	4.13	1.53	0.23141	.	0.426980	0.19498	N	0.112810	T	0.80352	0.4607	M	0.73962	2.25	0.18873	N	0.999984	P;B	0.40230	0.708;0.397	P;B	0.57152	0.814;0.325	T	0.68224	-0.5465	10	0.45353	T	0.12	.	6.0365	0.19710	0.5986:0.1407:0.0:0.2607	.	421;2435	E7EQ84;Q8IZT6	.;ASPM_HUMAN	T	2435;421	ENSP00000356379:I2435T	ENSP00000356376:I421T	I	-	2	0	ASPM	195337700	0.187000	0.23238	0.045000	0.18777	0.895000	0.52256	4.349000	0.59385	0.697000	0.31718	0.456000	0.33151	ATT		0.373	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		Missense_Mutation
ANKRD26	22852	broad.mit.edu	37	10	27326144	27326144	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr10:27326144C>T	ENST00000376087.4	-	23	2833	c.2668G>A	c.(2668-2670)Gaa>Aaa	p.E890K	ANKRD26_ENST00000436985.2_Missense_Mutation_p.E906K|ANKRD26_ENST00000376070.3_Missense_Mutation_p.E447K	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	889					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.E890K(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGAGCCATTTCAATCTCCTTT	0.323																																																1	Substitution - Missense(1)	ovary(1)	10											127.0	114.0	118.0					10																	27326144		1837	4076	5913	27366150	SO:0001583	missense	22852			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2668G>A	10.37:g.27326144C>T	ENSP00000365255:p.Glu890Lys	Unknown		x	x	x	27366150	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	CCDS41499.1	SNP	29	Broad	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414508	0.62511	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.38722	3.67;1.12;1.16	5.34	3.38	0.38709	.	0.000000	0.49305	U	0.000147	T	0.60728	0.2291	M	0.73217	2.22	0.24366	N	0.994853	D;D;D	0.63880	0.974;0.957;0.993	P;P;D	0.72625	0.805;0.643;0.978	T	0.54417	-0.8297	10	0.72032	D	0.01	.	12.2261	0.54461	0.0:0.673:0.327:0.0	.	890;889;906	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	K	447;890;906	ENSP00000365238:E447K;ENSP00000365255:E890K;ENSP00000405112:E906K	ENSP00000365238:E447K	E	-	1	0	ANKRD26	27366150	1.000000	0.71417	0.035000	0.18076	0.745000	0.42441	4.024000	0.57218	1.235000	0.43724	0.585000	0.79938	GAA		0.323	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			Missense_Mutation
CHST15	51363	broad.mit.edu	37	10	125769829	125769829	+	Silent	SNP	A	A	G			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr10:125769829A>G	ENST00000346248.5	-	8	2164	c.1522T>C	c.(1522-1524)Ttg>Ctg	p.L508L	CHST15_ENST00000435907.1_Silent_p.L508L	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	508					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)	p.L508L(1)		endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TTGGTCATCAAAGCCTCCTGC	0.542																																																1	Substitution - coding silent(1)	ovary(1)	10											29.0	31.0	30.0					10																	125769829		2203	4300	6503	125759819	SO:0001819	synonymous_variant	51363			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.1522T>C	10.37:g.125769829A>G		Unknown		x	x	x	125759819	O60338|O60474|Q86VM4	Silent	SNP	ENST00000346248.5	37	CCDS7638.1	SNP	1	Broad																																																																																				0.542	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		Silent
KCNJ11	3767	broad.mit.edu	37	11	17409598	17409598	+	Missense_Mutation	SNP	A	A	C			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr11:17409598A>C	ENST00000339994.4	-	1	608	c.41T>G	c.(40-42)cTg>cGg	p.L14R	KCNJ11_ENST00000528731.1_Intron|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	14					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	CAGGCGTGTCAGCACGTATTC	0.672																																																0			11											58.0	63.0	61.0					11																	17409598		2200	4292	6492	17366174	SO:0001583	missense	3767			D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.41T>G	11.37:g.17409598A>C	ENSP00000345708:p.Leu14Arg	Unknown		x	x	x	17366174	B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Missense_Mutation	SNP	ENST00000339994.4	37	CCDS31436.1	SNP	7	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.50|14.50	2.555248|2.555248	0.45487|0.45487	.|.	.|.	ENSG00000187486|ENSG00000187486	ENST00000339994|ENST00000528992	D|.	0.88431|.	-2.38|.	4.3|4.3	4.3|4.3	0.51218|0.51218	.|.	0.179009|.	0.37136|.	N|.	0.002231|.	T|.	0.69305|.	0.3096|.	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.72075|.	0.976|.	T|.	0.68934|.	-0.5278|.	10|.	0.41790|.	T|.	0.15|.	.|.	13.4555|13.4555	0.61195|0.61195	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	14|.	B2RC52|.	.|.	R|G	14|20	ENSP00000345708:L14R|.	ENSP00000345708:L14R|.	L|X	-|-	2|1	0|0	KCNJ11|KCNJ11	17366174|17366174	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.849000|0.849000	0.48306|0.48306	9.339000|9.339000	0.96797|0.96797	1.580000|1.580000	0.49851|0.49851	0.379000|0.379000	0.24179|0.24179	CTG|TGA		0.672	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525		Missense_Mutation
OR8J1	219477	broad.mit.edu	37	11	56128338	56128338	+	Missense_Mutation	SNP	A	A	T			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr11:56128338A>T	ENST00000303039.3	+	1	648	c.616A>T	c.(616-618)Aat>Tat	p.N206Y		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N206Y(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TGCAGCAACAAATGTGGTTGG	0.299																																																1	Substitution - Missense(1)	ovary(1)	11											169.0	158.0	162.0					11																	56128338		2201	4296	6497	55884914	SO:0001583	missense	219477			AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.616A>T	11.37:g.56128338A>T	ENSP00000304060:p.Asn206Tyr	Unknown		x	x	x	55884914	B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	CCDS31529.1	SNP	1	Broad	.	.	.	.	.	.	.	.	.	.	A	9.906	1.208212	0.22205	.	.	ENSG00000172487	ENST00000303039	T	0.00130	8.69	3.91	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.080970	0.53938	D	0.000059	T	0.00384	0.0012	M	0.71920	2.185	0.19575	N	0.999963	D	0.53619	0.961	D	0.64687	0.928	T	0.43261	-0.9402	10	0.87932	D	0	.	10.9929	0.47559	1.0:0.0:0.0:0.0	.	206	Q8NGP2	OR8J1_HUMAN	Y	206	ENSP00000304060:N206Y	ENSP00000304060:N206Y	N	+	1	0	OR8J1	55884914	0.000000	0.05858	0.954000	0.39281	0.163000	0.22366	-0.304000	0.08199	1.772000	0.52199	0.448000	0.29417	AAT		0.299	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		Missense_Mutation
OR5A1	219982	broad.mit.edu	37	11	59211350	59211350	+	Nonsense_Mutation	SNP	C	C	T			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr11:59211350C>T	ENST00000302030.2	+	1	734	c.709C>T	c.(709-711)Cga>Tga	p.R237*		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R237*(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						AGCAGAGGGCCGATGGAAAGC	0.547																																																1	Substitution - Nonsense(1)	ovary(1)	11											257.0	215.0	229.0					11																	59211350		2201	4295	6496	58967926	SO:0001587	stop_gained	219982			AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.709C>T	11.37:g.59211350C>T	ENSP00000303096:p.Arg237*	Unknown		x	x	x	58967926	B9EH58|Q6IFF2|Q96RB1	Nonsense_Mutation	SNP	ENST00000302030.2	37	CCDS31561.1	SNP	23	Broad	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278495	0.23307	.	.	ENSG00000172320	ENST00000302030	.	.	.	5.98	0.101	0.14517	.	0.291504	0.23922	N	0.043237	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7219	10.2104	0.43136	0.5557:0.3744:0.0:0.0699	.	.	.	.	X	237	.	ENSP00000303096:R237X	R	+	1	2	OR5A1	58967926	0.000000	0.05858	0.018000	0.16275	0.011000	0.07611	-0.261000	0.08694	0.113000	0.18004	-0.912000	0.02778	CGA		0.547	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		Nonsense_Mutation
ATP11A	23250	broad.mit.edu	37	13	113485841	113485841	+	Silent	SNP	G	G	A			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr13:113485841G>A	ENST00000487903.1	+	13	1462	c.1374G>A	c.(1372-1374)tcG>tcA	p.S458S	ATP11A_ENST00000283558.8_Silent_p.S458S|ATP11A_ENST00000375630.2_Silent_p.S458S|ATP11A_ENST00000375645.3_Silent_p.S458S			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	458					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S458S(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TGATTGACTCGTCCCCCAGCG	0.607																																																1	Substitution - coding silent(1)	ovary(1)	13											130.0	93.0	105.0					13																	113485841		2203	4300	6503	112533842	SO:0001819	synonymous_variant	23250			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1374G>A	13.37:g.113485841G>A		Unknown		x	x	x	112533842	Q5VXT2	Silent	SNP	ENST00000487903.1	37	CCDS32011.1	SNP	40	Broad	.	.	.	.	.	.	.	.	.	.	G	7.298	0.612382	0.14066	.	.	ENSG00000068650	ENST00000418678	.	.	.	5.45	-10.9	0.00192	.	.	.	.	.	T	0.32133	0.0819	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41413	-0.9510	4	.	.	.	.	1.7746	0.03019	0.2425:0.1571:0.1305:0.4699	.	.	.	.	H	433	.	.	R	+	2	0	ATP11A	112533842	0.014000	0.17966	0.073000	0.20177	0.651000	0.38670	-1.056000	0.03489	-2.944000	0.00296	-0.311000	0.09066	CGT		0.607	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		Silent
AP1G2	8906	broad.mit.edu	37	14	24035342	24035342	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr14:24035342G>A	ENST00000308724.5	-	4	1254	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	AP1G2_ENST00000556277.1_5'UTR|AP1G2_ENST00000397120.3_Missense_Mutation_p.R167W|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	167					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)	p.R167W(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GGGACCTTCCGGATCATGTGC	0.572																																																1	Substitution - Missense(1)	ovary(1)	14											48.0	49.0	49.0					14																	24035342		2203	4300	6503	23105182	SO:0001583	missense	8906			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.499C>T	14.37:g.24035342G>A	ENSP00000312442:p.Arg167Trp	Unknown		x	x	x	23105182	D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	CCDS9602.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693599	0.68386	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000557189	T;T;T	0.28666	1.6;1.6;1.6	5.2	5.2	0.72013	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63474	0.2514	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.988;0.999	T	0.71467	-0.4584	10	0.87932	D	0	-22.6974	11.1833	0.48642	0.0:0.0:0.8168:0.1832	.	167;167	G3V532;O75843	.;AP1G2_HUMAN	W	167	ENSP00000312442:R167W;ENSP00000380309:R167W;ENSP00000452153:R167W	ENSP00000312442:R167W	R	-	1	2	AP1G2	23105182	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	3.175000	0.50855	2.698000	0.92095	0.561000	0.74099	CGG		0.572	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		Missense_Mutation
ARID4A	5926	broad.mit.edu	37	14	58831412	58831412	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr14:58831412A>G	ENST00000355431.3	+	20	2978	c.2605A>G	c.(2605-2607)Ata>Gta	p.I869V	ARID4A_ENST00000431317.2_Missense_Mutation_p.I869V|ARID4A_ENST00000348476.3_Missense_Mutation_p.I869V|ARID4A_ENST00000395168.3_Missense_Mutation_p.I869V	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	869					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I869V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGAGAAAAAAATAAGAATTGA	0.323																																																1	Substitution - Missense(1)	ovary(1)	14											57.0	53.0	54.0					14																	58831412		2203	4297	6500	57901165	SO:0001583	missense	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2605A>G	14.37:g.58831412A>G	ENSP00000347602:p.Ile869Val	Unknown		x	x	x	57901165	Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	CCDS9732.1	SNP	4	Broad	.	.	.	.	.	.	.	.	.	.	A	10.88	1.474615	0.26511	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.14144	2.56;2.55;2.55;2.55;2.53	5.59	-7.4	0.01397	.	1.281460	0.04675	N	0.411283	T	0.08358	0.0208	L	0.40543	1.245	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37361	-0.9709	10	0.41790	T	0.15	0.0017	0.6438	0.00815	0.1914:0.2736:0.1768:0.3583	.	869;869;869	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	V	869;869;869;869;547	ENSP00000347602:I869V;ENSP00000344556:I869V;ENSP00000378597:I869V;ENSP00000397368:I869V;ENSP00000416053:I547V	ENSP00000344556:I869V	I	+	1	0	ARID4A	57901165	0.000000	0.05858	0.389000	0.26208	0.985000	0.73830	-0.431000	0.06965	-0.891000	0.03940	-0.256000	0.11100	ATA		0.323	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		Missense_Mutation
TP53	7157	broad.mit.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr17:7578265A>G	ENST00000269305.4	-	6	773	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_ENST00000413465.2_Missense_Mutation_p.I195T|TP53_ENST00000455263.2_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000420246.2_Missense_Mutation_p.I195T|TP53_ENST00000445888.2_Missense_Mutation_p.I195T	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(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)	Acetylsalicylic acid(DB00945)	TTCCACTCGGATAAGATGCTG	0.552		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)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)	17											100.0	89.0	93.0					17																	7578265		2203	4300	6503	7518990	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.584T>C	17.37:g.7578265A>G	ENSP00000269305:p.Ile195Thr	Unknown		x	x	x	7518990	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	SNP	12	Broad	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324656	0.41197	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99823	-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	N	0.000004	D	0.99785	0.9910	M	0.90019	3.08	0.52099	D	0.999943	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.991;0.989;0.998;0.997;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.995;0.953;0.979;0.995;0.993;0.996	D	0.98429	1.0581	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195T;ENSP00000352610:I195T;ENSP00000269305:I195T;ENSP00000398846:I195T;ENSP00000391127:I195T;ENSP00000391478:I195T;ENSP00000425104:I63T;ENSP00000423862:I102T	ENSP00000269305:I195T	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Missense_Mutation
JAK3	3718	broad.mit.edu	37	19	17950423	17950423	+	Missense_Mutation	SNP	G	G	A	rs199706172		TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr19:17950423G>A	ENST00000527670.1	-	9	1333	c.1304C>T	c.(1303-1305)aCa>aTa	p.T435I	JAK3_ENST00000458235.1_Missense_Mutation_p.T435I|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Missense_Mutation_p.T435I			P52333	JAK3_HUMAN	Janus kinase 3	435	SH2; atypical.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.T435I(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GAAGGTTCCTGTGGGGCTGCG	0.612		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																		Dom	yes		19	19p13.1	3718	Janus kinase 3		L	1	Substitution - Missense(1)	ovary(1)	19						G	ILE/THR	0,4406		0,0,2203	32.0	30.0	31.0		1304	0.1	0.0	19		31	1,8599	1.2+/-3.3	0,1,4299	no	missense	JAK3	NM_000215.3	89	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	435/1125	17950423	1,13005	2203	4300	6503	17811423	SO:0001583	missense	3718			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1304C>T	19.37:g.17950423G>A	ENSP00000432511:p.Thr435Ile	Unknown		x	x	x	17811423	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	CCDS12366.1	SNP	48	Broad	.	.	.	.	.	.	.	.	.	.	G	0.606	-0.827109	0.02734	0.0	1.16E-4	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.26660	1.72;1.72;1.72	3.84	0.079	0.14414	SH2 motif (2);	1.183550	0.06232	N	0.688845	T	0.17066	0.0410	N	0.22421	0.69	0.09310	N	1	P;B;B	0.37276	0.589;0.419;0.421	B;B;B	0.35971	0.215;0.189;0.072	T	0.27226	-1.0080	10	0.54805	T	0.06	-0.1038	6.4874	0.22097	0.0:0.354:0.4624:0.1836	.	435;435;435	B4DK43;P52333-2;P52333	.;.;JAK3_HUMAN	I	435	ENSP00000391676:T435I;ENSP00000432511:T435I;ENSP00000436421:T435I	ENSP00000413248:T435I	T	-	2	0	JAK3	17811423	0.038000	0.19896	0.003000	0.11579	0.005000	0.04900	1.203000	0.32284	-0.052000	0.13311	0.455000	0.32223	ACA		0.612	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		Missense_Mutation
ZNF181	339318	broad.mit.edu	37	19	35232077	35232077	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr19:35232077C>G	ENST00000492450.1	+	4	880	c.791C>G	c.(790-792)cCc>cGc	p.P264R	ZNF181_ENST00000459757.2_Missense_Mutation_p.P263R|ZNF181_ENST00000392232.3_Missense_Mutation_p.P308R			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P200R(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GGAGAGAAGCCCTATGAATGT	0.418																																																1	Substitution - Missense(1)	ovary(1)	19											86.0	96.0	92.0					19																	35232077		2202	4300	6502	39923917	SO:0001583	missense	339318			BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.791C>G	19.37:g.35232077C>G	ENSP00000420727:p.Pro264Arg	Unknown		x	x	x	39923917	B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	CCDS32990.2	SNP	22	Broad	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924387	0.52653	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	T;T;T	0.17213	2.29;2.29;2.29	2.89	2.89	0.33648	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38241	0.1033	M	0.72624	2.21	0.40414	D	0.979774	D;D	0.89917	1.0;0.999	D;D	0.80764	0.992;0.994	T	0.38693	-0.9649	9	0.87932	D	0	.	11.9919	0.53180	0.0:1.0:0.0:0.0	.	263;264	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	R	308;263;264;263	ENSP00000376065:P308R;ENSP00000420727:P264R;ENSP00000419435:P263R	ENSP00000376065:P308R	P	+	2	0	ZNF181	39923917	0.006000	0.16342	0.986000	0.45419	0.744000	0.42396	1.671000	0.37513	1.922000	0.55676	0.491000	0.48974	CCC		0.418	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		Missense_Mutation
GEN1	348654	broad.mit.edu	37	2	17963142	17963142	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr2:17963142G>C	ENST00000381254.2	+	14	2877	c.2663G>C	c.(2662-2664)gGt>gCt	p.G888A	GEN1_ENST00000317402.7_Missense_Mutation_p.G888A|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	888					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G888A(1)		breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACAACTCTGGTACTTGTTTG	0.333								Homologous recombination																																								1	Substitution - Missense(1)	ovary(1)	2											50.0	54.0	53.0					2																	17963142		2203	4299	6502	17826623	SO:0001583	missense	348654			AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.2663G>C	2.37:g.17963142G>C	ENSP00000370653:p.Gly888Ala	Unknown		x	x	x	17826623	Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	37	CCDS1691.1	SNP	44	Broad	.	.	.	.	.	.	.	.	.	.	G	0.125	-1.120981	0.01785	.	.	ENSG00000178295	ENST00000317402;ENST00000381254	T;T	0.23950	1.88;1.88	5.81	-7.13	0.01532	.	1.303760	0.05341	N	0.530106	T	0.07683	0.0193	N	0.11560	0.145	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31194	-0.9952	10	0.02654	T	1	-7.5374	0.8544	0.01179	0.278:0.3108:0.1815:0.2297	.	888	Q17RS7	GEN_HUMAN	A	888	ENSP00000318977:G888A;ENSP00000370653:G888A	ENSP00000318977:G888A	G	+	2	0	GEN1	17826623	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.119000	0.10676	-1.095000	0.03050	-1.357000	0.01221	GGT		0.333	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		Missense_Mutation
CNOT11	55571	broad.mit.edu	37	2	101874319	101874319	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr2:101874319G>C	ENST00000289382.3	+	2	744	c.581G>C	c.(580-582)cGg>cCg	p.R194P		NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	194					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.R194P(1)									GCACCCCCACGGGAACTCTTC	0.473																																																1	Substitution - Missense(1)	ovary(1)	2											77.0	74.0	75.0					2																	101874319		2203	4300	6503	101240751	SO:0001583	missense	55571			AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 29"""	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.581G>C	2.37:g.101874319G>C	ENSP00000289382:p.Arg194Pro	Unknown		x	x	x	101240751	Q6P2M9|Q8N681	Missense_Mutation	SNP	ENST00000289382.3	37	CCDS2050.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904102	0.92035	.	.	ENSG00000158435	ENST00000289382	T	0.36157	1.27	6.01	6.01	0.97437	.	0.046006	0.85682	D	0.000000	T	0.54303	0.1850	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.30268	-0.9984	10	0.27785	T	0.31	-30.0523	20.5751	0.99360	0.0:0.0:1.0:0.0	.	194	Q9UKZ1	CB029_HUMAN	P	194	ENSP00000289382:R194P	ENSP00000289382:R194P	R	+	2	0	C2orf29	101240751	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.717000	0.84732	2.869000	0.98440	0.558000	0.71614	CGG		0.473	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546		Missense_Mutation
KCNJ4	3761	broad.mit.edu	37	22	38823544	38823544	+	Silent	SNP	G	G	A			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr22:38823544G>A	ENST00000303592.3	-	2	852	c.594C>T	c.(592-594)ggC>ggT	p.G198G	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	198					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)	p.G198G(1)		endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GGCAGAGCTTGCCGTCGCGCA	0.637																																																1	Substitution - coding silent(1)	ovary(1)	22											46.0	45.0	46.0					22																	38823544		2203	4300	6503	37153490	SO:0001819	synonymous_variant	3761			U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.594C>T	22.37:g.38823544G>A		Unknown		x	x	x	37153490	Q14D44	Silent	SNP	ENST00000303592.3	37	CCDS13971.1	SNP	46	Broad																																																																																				0.637	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		Silent
SCN10A	6336	broad.mit.edu	37	3	38770224	38770224	+	Nonsense_Mutation	SNP	G	G	A			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr3:38770224G>A	ENST00000449082.2	-	15	2448	c.2449C>T	c.(2449-2451)Cga>Tga	p.R817*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	817					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R817*(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ATATTTTTTCGGTTGTTACGG	0.532																																																1	Substitution - Nonsense(1)	ovary(1)	3											125.0	126.0	126.0					3																	38770224		2203	4300	6503	38745228	SO:0001587	stop_gained	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2449C>T	3.37:g.38770224G>A	ENSP00000390600:p.Arg817*	Unknown		x	x	x	38745228	A6NDQ1	Nonsense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831187	0.71258	.	.	ENSG00000185313	ENST00000449082	.	.	.	4.75	-1.06	0.10002	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	2.468	0.04557	0.1323:0.1878:0.2164:0.4634	.	.	.	.	X	817	.	ENSP00000390600:R817X	R	-	1	2	SCN10A	38745228	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.063000	0.11655	-0.311000	0.08754	-0.181000	0.13052	CGA		0.532	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		Nonsense_Mutation
GABRA4	2557	broad.mit.edu	37	4	46979124	46979124	+	Silent	SNP	C	C	G			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr4:46979124C>G	ENST00000264318.3	-	5	1513	c.531G>C	c.(529-531)gtG>gtC	p.V177V		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	177					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.V177V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGGGAAAATCCACCAATCTCA	0.338																																					Ovarian(6;283 369 8234 12290 33402)											1	Substitution - coding silent(1)	ovary(1)	4											57.0	55.0	56.0					4																	46979124		2203	4300	6503	46673881	SO:0001819	synonymous_variant	2557				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.531G>C	4.37:g.46979124C>G		Unknown		x	x	x	46673881	Q8IYR7	Silent	SNP	ENST00000264318.3	37	CCDS3473.1	SNP	21	Broad																																																																																				0.338	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			Silent
BBS12	166379	broad.mit.edu	37	4	123664599	123664599	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr4:123664599A>G	ENST00000314218.3	+	2	1745	c.1552A>G	c.(1552-1554)Agg>Ggg	p.R518G	BBS12_ENST00000542236.1_Missense_Mutation_p.R518G	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	518					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)	p.R518G(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						CAAAGAAGATAGGTTCTGGAC	0.398									Bardet-Biedl syndrome																																							1	Substitution - Missense(1)	ovary(1)	4											129.0	127.0	128.0					4																	123664599		2203	4300	6503	123884049	SO:0001583	missense	166379	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1552A>G	4.37:g.123664599A>G	ENSP00000319062:p.Arg518Gly	Unknown		x	x	x	123884049	D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	37	CCDS3728.1	SNP	15	Broad	.	.	.	.	.	.	.	.	.	.	A	16.37	3.103681	0.56291	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.79653	-1.29;-1.29	5.71	-1.95	0.07548	.	0.322741	0.31734	N	0.007156	T	0.71178	0.3309	L	0.60455	1.87	0.09310	N	1	P	0.39717	0.684	B	0.37780	0.258	T	0.63773	-0.6561	10	0.20046	T	0.44	-31.0401	11.3168	0.49396	0.4325:0.4982:0.0692:0.0	.	518	Q6ZW61	BBS12_HUMAN	G	518	ENSP00000319062:R518G;ENSP00000438273:R518G	ENSP00000319062:R518G	R	+	1	2	BBS12	123884049	0.036000	0.19791	0.646000	0.29493	0.989000	0.77384	1.360000	0.34125	0.076000	0.16826	0.482000	0.46254	AGG		0.398	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		Missense_Mutation
TKTL2	84076	broad.mit.edu	37	4	164394719	164394719	+	Silent	SNP	C	C	T			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr4:164394719C>T	ENST00000280605.3	-	1	328	c.168G>A	c.(166-168)acG>acA	p.T56T		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	56						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.T56T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TATACTTCATCGTGTGGAAGA	0.577																																																1	Substitution - coding silent(1)	ovary(1)	4											136.0	97.0	110.0					4																	164394719		2203	4300	6503	164614169	SO:0001819	synonymous_variant	84076			BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.168G>A	4.37:g.164394719C>T		Unknown		x	x	x	164614169	A4FVB4|Q8NCT0|Q96M82	Silent	SNP	ENST00000280605.3	37	CCDS3805.1	SNP	31	Broad																																																																																				0.577	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		Silent
COL12A1	1303	broad.mit.edu	37	6	75902055	75902055	+	Silent	SNP	T	T	C			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr6:75902055T>C	ENST00000322507.8	-	4	516	c.207A>G	c.(205-207)gaA>gaG	p.E69E	COL12A1_ENST00000483888.2_Silent_p.E69E|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.E69E	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	69	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.E69E(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAAGGGTAAATTCTTTAGTAG	0.328																																																1	Substitution - coding silent(1)	ovary(1)	6											91.0	79.0	83.0					6																	75902055		1802	4070	5872	75958775	SO:0001819	synonymous_variant	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.207A>G	6.37:g.75902055T>C		Unknown		x	x	x	75958775	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	CCDS43482.1	SNP	52	Broad																																																																																				0.328	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		Silent
TRAF3IP2	10758	broad.mit.edu	37	6	111901531	111901531	+	Silent	SNP	C	C	T			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr6:111901531C>T	ENST00000340026.6	-	4	1512	c.918G>A	c.(916-918)caG>caA	p.Q306Q	TRAF3IP2_ENST00000359831.4_Silent_p.Q297Q|TRAF3IP2-AS1_ENST00000607066.1_RNA|TRAF3IP2_ENST00000368761.5_Silent_p.Q297Q|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000442928.2_RNA			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	306					B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)			p.Q306Q(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CAGGCAGGGGCTGCCCAGGCA	0.587																																																1	Substitution - coding silent(1)	ovary(1)	6											62.0	66.0	65.0					6																	111901531		2203	4300	6503	112008224	SO:0001819	synonymous_variant	10758			AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.918G>A	6.37:g.111901531C>T		Unknown		x	x	x	112008224	B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Silent	SNP	ENST00000340026.6	37		SNP	28	Broad																																																																																				0.587	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			Silent
HOXA7	3204	broad.mit.edu	37	7	27194684	27194684	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr7:27194684C>A	ENST00000242159.3	-	2	670	c.537G>T	c.(535-537)caG>caT	p.Q179H	HOXA-AS3_ENST00000524304.1_RNA|HOXA7_ENST00000523796.2_5'UTR|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000521231.1_RNA|RP1-170O19.23_ENST00000498652.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	179					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						TGCGGCGGTTCTGGAACCAGA	0.642																																																0			7											88.0	98.0	95.0					7																	27194684		2202	4300	6502	27161209	SO:0001583	missense	3204				CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"""Homeoboxes / ANTP class : HOXL subclass"""	5108	protein-coding gene	gene with protein product		142950	"""homeo box A7"""	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217	ENST00000242159.3:c.537G>T	7.37:g.27194684C>A	ENSP00000242159:p.Gln179His	Unknown		x	x	x	27161209	A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	Missense_Mutation	SNP	ENST00000242159.3	37	CCDS5408.1	SNP	32	Broad	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282366	0.59867	.	.	ENSG00000122592	ENST00000242159	D	0.97688	-4.49	5.0	4.0	0.46444	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99149	0.9706	H	0.98646	4.29	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.98496	1.0612	10	0.87932	D	0	.	10.2175	0.43177	0.0:0.7677:0.0:0.2323	.	179	P31268	HXA7_HUMAN	H	179	ENSP00000242159:Q179H	ENSP00000242159:Q179H	Q	-	3	2	HOXA7	27161209	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.029000	0.30140	0.926000	0.37118	0.462000	0.41574	CAG		0.642	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358695.1			Missense_Mutation
FAM214B	80256	broad.mit.edu	37	9	35107610	35107610	+	Missense_Mutation	SNP	T	T	C			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr9:35107610T>C	ENST00000378561.1	-	2	3717	c.662A>G	c.(661-663)aAt>aGt	p.N221S	FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000488109.2_Missense_Mutation_p.N221S|FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000378557.1_Missense_Mutation_p.N221S|FAM214B_ENST00000603301.1_Missense_Mutation_p.N221S|FAM214B_ENST00000378554.2_Missense_Mutation_p.N221S|FAM214B_ENST00000605244.1_Missense_Mutation_p.N221S|FAM214B_ENST00000322813.5_Missense_Mutation_p.N221S			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	221						nucleus (GO:0005634)		p.N221S(1)									ACTGTGCCCATTGGCAGTGCC	0.642																																																1	Substitution - Missense(1)	ovary(1)	9											35.0	42.0	40.0					9																	35107610		2203	4300	6503	35097610	SO:0001583	missense	80256			AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"""KIAA1539"""	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.662A>G	9.37:g.35107610T>C	ENSP00000367823:p.Asn221Ser	Unknown		x	x	x	35097610	B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Missense_Mutation	SNP	ENST00000378561.1	37	CCDS6578.1	SNP	52	Broad	.	.	.	.	.	.	.	.	.	.	T	18.16	3.561816	0.65538	.	.	ENSG00000005238	ENST00000322813;ENST00000378561;ENST00000378557;ENST00000378554	.	.	.	4.87	4.87	0.63330	.	0.278391	0.34750	N	0.003714	T	0.63141	0.2486	L	0.29908	0.895	0.38768	D	0.954476	D	0.69078	0.997	D	0.70716	0.97	T	0.64300	-0.6440	8	.	.	.	-20.8433	13.8021	0.63206	0.0:0.0:0.0:1.0	.	221	Q7L5A3	K1539_HUMAN	S	221	.	.	N	-	2	0	KIAA1539	35097610	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.522000	0.60539	2.048000	0.60808	0.454000	0.30748	AAT		0.642	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052261.1	NM_025182		Missense_Mutation
NR4A3	8013	broad.mit.edu	37	9	102595008	102595008	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr9:102595008C>A	ENST00000395097.2	+	4	1718	c.989C>A	c.(988-990)gCa>gAa	p.A330E	NR4A3_ENST00000330847.1_Missense_Mutation_p.A341E|NR4A3_ENST00000338488.4_Missense_Mutation_p.A330E	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	330					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)	p.A341E(1)	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GTTTGCCTGGCAAATAAAAAC	0.393			T	EWSR1	extraskeletal myxoid chondrosarcoma																																		Dom	yes		9	9q22	8013	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""		M	1	Substitution - Missense(1)	ovary(1)	9											104.0	100.0	101.0					9																	102595008		2203	4300	6503	101634829	SO:0001583	missense	8013			U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.989C>A	9.37:g.102595008C>A	ENSP00000378531:p.Ala330Glu	Unknown		x	x	x	101634829	A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	37	CCDS6743.1	SNP	25	Broad	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736717	0.89482	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000395096;ENST00000330847	D;D;D	0.97114	-4.25;-4.25;-4.25	5.6	5.6	0.85130	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.050565	0.85682	D	0.000000	D	0.97483	0.9176	L	0.37630	1.12	0.80722	D	1	D;D;P	0.89917	1.0;0.967;0.537	D;P;B	0.87578	0.998;0.897;0.144	D	0.97255	0.9900	10	0.41790	T	0.15	.	19.9823	0.97331	0.0:1.0:0.0:0.0	.	341;330;330	Q92570-3;Q92570;Q92570-2	.;NR4A3_HUMAN;.	E	330;330;154;341	ENSP00000378531:A330E;ENSP00000340301:A330E;ENSP00000333122:A341E	ENSP00000333122:A341E	A	+	2	0	NR4A3	101634829	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.788000	0.95919	0.650000	0.86243	GCA		0.393	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			Missense_Mutation
DBH	1621	broad.mit.edu	37	9	136512973	136512973	+	Missense_Mutation	SNP	A	A	C			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr9:136512973A>C	ENST00000393056.2	+	6	1042	c.1030A>C	c.(1030-1032)Aac>Cac	p.N344H		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	344					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)	p.N344H(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CCCAGGACGAAACGACTCCTC	0.602																																																1	Substitution - Missense(1)	ovary(1)	9											119.0	84.0	96.0					9																	136512973		2203	4300	6503	135502794	SO:0001583	missense	1621			X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.1030A>C	9.37:g.136512973A>C	ENSP00000376776:p.Asn344His	Unknown		x	x	x	135502794	Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	CCDS6977.2	SNP	1	Broad	.	.	.	.	.	.	.	.	.	.	A	0.034	-1.314197	0.01331	.	.	ENSG00000123454	ENST00000393056	T	0.33438	1.41	4.95	0.519	0.17035	Copper type II, ascorbate-dependent monooxygenase, N-terminal (1);PHM/PNGase F domain (1);	0.796255	0.11172	N	0.591940	T	0.12178	0.0296	N	0.03324	-0.35	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.35001	-0.9806	10	0.16420	T	0.52	-43.764	8.4184	0.32685	0.4953:0.432:0.0:0.0727	.	344	P09172	DOPO_HUMAN	H	344	ENSP00000376776:N344H	ENSP00000376776:N344H	N	+	1	0	DBH	135502794	0.000000	0.05858	0.044000	0.18714	0.005000	0.04900	0.804000	0.27098	0.493000	0.27837	-0.249000	0.11873	AAC		0.602	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		Missense_Mutation
CASK	8573	broad.mit.edu	37	X	41390350	41390350	+	Silent	SNP	G	G	A			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chrX:41390350G>A	ENST00000378163.1	-	25	2904	c.2430C>T	c.(2428-2430)agC>agT	p.S810S	CASK_ENST00000421587.2_Silent_p.S781S|CASK_ENST00000442742.2_Silent_p.S782S|CASK_ENST00000318588.9_Silent_p.S805S|CASK_ENST00000378166.4_Silent_p.S805S|CASK_ENST00000361962.4_Silent_p.S793S|CASK_ENST00000378158.1_Silent_p.S793S			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	810	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)	p.S805S(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CATCCTCGTGGCTGCCGTACT	0.463																																					NSCLC(42;104 1086 3090 27189 35040)											1	Substitution - coding silent(1)	ovary(1)	X											207.0	139.0	162.0					X																	41390350		2203	4300	6503	41275294	SO:0001819	synonymous_variant	8573			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.2430C>T	X.37:g.41390350G>A		Unknown		x	x	x	41275294	A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Silent	SNP	ENST00000378163.1	37		SNP	42	Broad																																																																																				0.463	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688		Silent
ABCB7	22	broad.mit.edu	37	X	74375965	74375965	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chrX:74375965G>A	ENST00000373394.3	-	1	150	c.143C>T	c.(142-144)gCc>gTc	p.A48V	ABCB7_ENST00000253577.3_Missense_Mutation_p.A48V|ABCB7_ENST00000339447.4_Missense_Mutation_p.A48V			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	48					cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)	p.A48V(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GGTTCCCAAGGCGCCGAGTTG	0.597											OREG0019879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	X											43.0	30.0	34.0					X																	74375965		2203	4300	6503	74292690	SO:0001583	missense	22			AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.143C>T	X.37:g.74375965G>A	ENSP00000362492:p.Ala48Val	Unknown	1152	x	x	x	74292690	G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37		SNP	42	Broad	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928741	0.34002	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949;ENST00000534524;ENST00000526404	D;D;D;D;T	0.91068	-2.36;-2.43;-2.36;-2.78;1.48	4.74	-1.99	0.07457	.	0.920566	0.09184	N	0.837000	T	0.80287	0.4595	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.64162	-0.6472	10	0.42905	T	0.14	-0.0015	0.6883	0.00887	0.1928:0.2991:0.2256:0.2825	.	48;48;48;48;48	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	V	48;48;48;48;48;48;60	ENSP00000253577:A48V;ENSP00000343849:A48V;ENSP00000362492:A48V;ENSP00000436586:A48V;ENSP00000435521:A48V	ENSP00000253577:A48V	A	-	2	0	ABCB7	74292690	0.001000	0.12720	0.000000	0.03702	0.031000	0.12232	-0.490000	0.06482	-0.366000	0.08064	0.513000	0.50165	GCC		0.597	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		Missense_Mutation
F9	2158	broad.mit.edu	37	X	138623284	138623284	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chrX:138623284G>C	ENST00000218099.2	+	4	334	c.327G>C	c.(325-327)aaG>aaC	p.K109N	F9_ENST00000479617.2_3'UTR|F9_ENST00000394090.2_Intron	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	109	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.K109N(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	GCAGTTGCAAGGATGACATTA	0.373																																																1	Substitution - Missense(1)	ovary(1)	X											218.0	175.0	189.0					X																	138623284		2203	4300	6503	138450950	SO:0001583	missense	2158			M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.327G>C	X.37:g.138623284G>C	ENSP00000218099:p.Lys109Asn	Unknown		x	x	x	138450950	A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	CCDS14666.1	SNP	35	Broad	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211021	0.58343	.	.	ENSG00000101981	ENST00000218099	D	0.92199	-2.99	5.81	4.96	0.65561	Gamma-carboxyglutamic acid-rich (GLA) domain (1);EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.142348	0.64402	D	0.000007	D	0.86900	0.6044	N	0.04669	-0.19	0.80722	D	1	D	0.54207	0.965	P	0.55615	0.78	D	0.87290	0.2298	10	0.62326	D	0.03	.	8.0444	0.30540	0.1854:0.0:0.8146:0.0	.	109	P00740	FA9_HUMAN	N	109	ENSP00000218099:K109N	ENSP00000218099:K109N	K	+	3	2	F9	138450950	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	1.022000	0.30052	1.213000	0.43380	0.594000	0.82650	AAG		0.373	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			Missense_Mutation
NBPF10	100132406	broad.mit.edu	37	1	145327546	145327550	+	Frame_Shift_Del	DEL	TGAAT	TGAAT	-	rs202019968		TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr1:145327546_145327550delTGAAT	ENST00000342960.5	+	32	4138_4142	c.4103_4107delTGAAT	c.(4102-4107)ctgaatfs	p.LN1368fs	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	711						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CAGGACTCACTGAATAGATGTTATT	0.473																																																0			1																																								144038907	SO:0001589	frameshift_variant	100132406			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.4103_4107delTGAAT	1.37:g.145327546_145327550delTGAAT	ENSP00000345684:p.Leu1368fs	Unknown		Capture	Illumina GAIIx	Phase_I	144038903	Q5RHC0|Q9NWN6	Frame_Shift_Del	DEL	ENST00000342960.5	37	CCDS53355.1	DEL	55	Broad																																																																																				0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		Frame_Shift_Del
IWS1	55677	broad.mit.edu	37	2	128262465	128262467	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr2:128262465_128262467delCTT	ENST00000295321.4	-	3	1271_1273	c.1012_1014delAAG	c.(1012-1014)aagdel	p.K338del	IWS1_ENST00000486662.1_5'Flank|AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_In_Frame_Del_p.K345del	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	338	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K338del(1)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TATCCTCTCCCTTATTCTCCCTG	0.478																																																1	Deletion - In frame(1)	ovary(1)	2																																								127978937	SO:0001651	inframe_deletion	55677			AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1012_1014delAAG	2.37:g.128262465_128262467delCTT	ENSP00000295321:p.Lys338del	Unknown		Capture	Illumina GAIIx	Phase_I	127978935	Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	In_Frame_Del	DEL	ENST00000295321.4	37	CCDS2146.1	DEL	24	Broad																																																																																				0.478	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		In_Frame_Del
COG5	10466	broad.mit.edu	37	7	107204370	107204370	+	Frame_Shift_Del	DEL	G	G	-			TCGA-25-2396-01	TCGA-25-2396-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-25-2396-01	TCGA-25-2396-10	g.chr7:107204370delG	ENST00000347053.3	-	1	115	c.65delC	c.(64-66)gctfs	p.A22fs	COG5_ENST00000393603.2_Frame_Shift_Del_p.A22fs|DUS4L_ENST00000498786.1_Intron|DUS4L_ENST00000265720.3_5'Flank|COG5_ENST00000297135.3_Frame_Shift_Del_p.A22fs|DUS4L_ENST00000402620.1_5'Flank	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	22					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.A22fs*20(1)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						GATGTCGTCAGCAGCAGAACG	0.692																																																1	Deletion - Frameshift(1)	ovary(1)	7											18.0	19.0	18.0					7																	107204370		2202	4297	6499	106991606	SO:0001589	frameshift_variant	10466			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.65delC	7.37:g.107204370delG	ENSP00000334703:p.Ala22fs	Unknown		Capture	Illumina GAIIx	Phase_I	106991606	A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Frame_Shift_Del	DEL	ENST00000347053.3	37	CCDS5743.1	DEL	34	Broad																																																																																				0.692	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			Frame_Shift_Del
