#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RSC1A1	6248	broad.mit.edu	37	1	15987657	15987657	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr1:15987657A>G	ENST00000345034.1	+	1	1294	c.1294A>G	c.(1294-1296)Act>Gct	p.T432A	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	432					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTAACAGGTACTTCATCTGA	0.438																																						ENST00000345034.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(1294-1296)Act>Gct		regulatory solute carrier protein, family 1, member 1							53.0	52.0	52.0					1																	15987657		2203	4300	6503	SO:0001583	missense	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15987657A>G	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.1294A>G	1.37:g.15987657A>G	ENSP00000341963:p.Thr432Ala		Somatic				DDI2_ENST00000480945.1_3'UTR	p.T432A	NM_006511.1	NP_006502.1	WXS	Illumina GAIIx	Phase_I	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	1294	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	432					B2RBP5	Missense_Mutation	SNP	ENST00000345034.1	37	c.1294A>G	CCDS161.1	.	.	.	.	.	.	.	.	.	.	A	8.498	0.863696	0.17250	.	.	ENSG00000215695	ENST00000345034	T	0.24350	1.86	5.42	-3.39	0.04868	.	1.228200	0.06076	N	0.660912	T	0.10252	0.0251	N	0.12746	0.255	0.09310	N	1	B	0.17268	0.021	B	0.15484	0.013	T	0.28933	-1.0028	10	0.13470	T	0.59	-0.6825	1.8328	0.03133	0.365:0.2307:0.2917:0.1127	.	432	Q92681	RSCA1_HUMAN	A	432	ENSP00000341963:T432A	ENSP00000341963:T432A	T	+	1	0	RSC1A1	15860244	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-1.076000	0.03420	-0.496000	0.06650	0.533000	0.62120	ACT		0.438	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		13	25	13	25	---	---	---	---
DMAP1	55929	broad.mit.edu	37	1	44680509	44680509	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr1:44680509T>G	ENST00000372289.2	+	3	595	c.332T>G	c.(331-333)tTc>tGc	p.F111C	DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000315913.5_Missense_Mutation_p.F111C|DMAP1_ENST00000361745.6_Missense_Mutation_p.F111C	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	111					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					GGAGCAATGTTCTTCCACTGG	0.572																																						ENST00000372289.2																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(331-333)tTc>tGc		DNA methyltransferase 1 associated protein 1							86.0	75.0	79.0					1																	44680509		2203	4300	6503	SO:0001583	missense	55929				DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding	g.chr1:44680509T>G	AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.332T>G	1.37:g.44680509T>G	ENSP00000361363:p.Phe111Cys		Somatic				DMAP1_ENST00000315913.5_Missense_Mutation_p.F111C|DMAP1_ENST00000361745.6_Missense_Mutation_p.F111C|DMAP1_ENST00000488433.1_3'UTR	p.F111C	NM_019100.4	NP_061973.1	WXS	Illumina GAIIx	Phase_I	Q9NPF5	DMAP1_HUMAN			3	595	+	Acute lymphoblastic leukemia(166;0.155)		111					A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Missense_Mutation	SNP	ENST00000372289.2	37	c.332T>G	CCDS509.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.652314	0.88056	.	.	ENSG00000178028	ENST00000361745;ENST00000446292;ENST00000372283;ENST00000440641;ENST00000436069;ENST00000437511;ENST00000315913;ENST00000372289;ENST00000372290	T;T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.54822	0.1882	M	0.82517	2.595	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.81914	0.969;0.993;0.975;0.976;0.995;0.962	T	0.62229	-0.6898	10	0.87932	D	0	-12.0587	15.4969	0.75662	0.0:0.0:0.0:1.0	.	111;111;111;111;137;111	B4DQG8;B4DEF2;B4DTH3;B4DTU6;B4DU03;Q9NPF5	.;.;.;.;.;DMAP1_HUMAN	C	111;111;137;111;137;137;111;111;82	ENSP00000354697:F111C;ENSP00000409200:F111C;ENSP00000401099:F111C;ENSP00000400269:F137C;ENSP00000402494:F137C;ENSP00000312697:F111C;ENSP00000361363:F111C;ENSP00000361364:F82C	ENSP00000312697:F111C	F	+	2	0	DMAP1	44453096	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	2.114000	0.64651	0.533000	0.62120	TTC		0.572	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	NM_019100		6	63	6	63	---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8874814	8874814	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr2:8874814A>C	ENST00000256707.3	-	28	3968	c.3787T>G	c.(3787-3789)Ttt>Gtt	p.F1263V	KIDINS220_ENST00000418530.1_Missense_Mutation_p.F1164V|KIDINS220_ENST00000427284.1_Missense_Mutation_p.F1244V|KIDINS220_ENST00000473731.1_Missense_Mutation_p.F1244V	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1263					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAGTCTCCAAAATTCATATTC	0.299																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(3787-3789)Ttt>Gtt		kinase D-interacting substrate, 220kDa							93.0	88.0	90.0					2																	8874814		1850	4090	5940	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8874814A>C	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.3787T>G	2.37:g.8874814A>C	ENSP00000256707:p.Phe1263Val		Somatic				KIDINS220_ENST00000427284.1_Missense_Mutation_p.F1244V|KIDINS220_ENST00000418530.1_Missense_Mutation_p.F1164V|KIDINS220_ENST00000473731.1_Missense_Mutation_p.F1244V	p.F1263V	NM_020738.2	NP_065789.1	WXS	Illumina GAIIx	Phase_I	Q9ULH0	KDIS_HUMAN			28	3968	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1263					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.3787T>G	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.009234	0.93346	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.96	5.96	0.96718	Sterile alpha motif/pointed domain (2);	0.000000	0.85682	D	0.000000	T	0.67757	0.2927	M	0.81942	2.565	0.80722	D	1	D;D;D;D;D	0.89917	0.993;1.0;0.999;0.999;0.997	D;D;D;D;D	0.91635	0.968;0.999;0.999;0.997;0.978	T	0.72221	-0.4356	10	0.87932	D	0	.	16.4484	0.83959	1.0:0.0:0.0:0.0	.	1207;1207;1164;1263;117	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0;B4DG84	.;.;.;KDIS_HUMAN;.	V	953;890;1263;1244;1164;1244;1207	ENSP00000420364:F953V;ENSP00000256707:F1263V;ENSP00000411849:F1244V;ENSP00000414923:F1164V;ENSP00000418974:F1244V;ENSP00000419964:F1207V	ENSP00000256707:F1263V	F	-	1	0	KIDINS220	8792265	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	8.894000	0.92506	2.285000	0.76669	0.533000	0.62120	TTT		0.299	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		19	26	19	26	---	---	---	---
CAPN13	92291	broad.mit.edu	37	2	30961160	30961160	+	Splice_Site	SNP	C	C	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr2:30961160C>T	ENST00000295055.8	-	17	1771		c.e17-1		CAPN13_ENST00000534090.2_Splice_Site	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13						proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CCTGGAGGTCCTGAGGAGAGA	0.597																																						ENST00000295055.8																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30						c.e17-1		calpain 13							72.0	75.0	74.0					2																	30961160		2033	4187	6220	SO:0001630	splice_region_variant	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30961160C>T		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1595-1G>A	2.37:g.30961160C>T			Somatic				CAPN13_ENST00000534090.2_Splice_Site		NM_144575.2	NP_653176.2	WXS	Illumina GAIIx	Phase_I	Q6MZZ7	CAN13_HUMAN			17	1771	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)							Q17RF0|Q580X1|Q8TE80	Splice_Site	SNP	ENST00000295055.8	37		CCDS46252.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977933	0.34942	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	.	.	.	4.87	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5879	0.39528	0.0:0.8989:0.0:0.1011	.	.	.	.	.	-1	.	.	.	-	.	.	CAPN13	30814664	1.000000	0.71417	0.948000	0.38648	0.169000	0.22640	3.919000	0.56439	2.268000	0.75426	0.455000	0.32223	.		0.597	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575	Intron	4	42	4	42	---	---	---	---
SLC30A6	55676	broad.mit.edu	37	2	32429723	32429723	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr2:32429723T>C	ENST00000282587.5	+	11	767	c.730T>C	c.(730-732)Tat>Cat	p.Y244H	SLC30A6_ENST00000357055.3_Missense_Mutation_p.Y47H|SLC30A6_ENST00000538303.1_Missense_Mutation_p.Y215H|SLC30A6_ENST00000406369.1_Missense_Mutation_p.Y170H|SLC30A6_ENST00000379343.2_Missense_Mutation_p.Y284H|SLC30A6_ENST00000435660.1_Missense_Mutation_p.Y244H	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	244					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGGCACTATGTATCCCATGAG	0.358																																						ENST00000282587.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(730-732)Tat>Cat		solute carrier family 30 (zinc transporter), member 6							147.0	126.0	133.0					2																	32429723		2203	4300	6503	SO:0001583	missense	55676					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity	g.chr2:32429723T>C	AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"""Solute carriers"""	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.730T>C	2.37:g.32429723T>C	ENSP00000282587:p.Tyr244His		Somatic				SLC30A6_ENST00000538303.1_Missense_Mutation_p.Y215H|SLC30A6_ENST00000357055.3_Missense_Mutation_p.Y47H|SLC30A6_ENST00000379343.2_Missense_Mutation_p.Y284H|SLC30A6_ENST00000435660.1_Missense_Mutation_p.Y244H|SLC30A6_ENST00000406369.1_Missense_Mutation_p.Y170H	p.Y244H	NM_017964.3	NP_060434.2	WXS	Illumina GAIIx	Phase_I	Q6NXT4	ZNT6_HUMAN			11	767	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		244					A5YM45|B7Z901|Q8N5C9|Q96NC3	Missense_Mutation	SNP	ENST00000282587.5	37	c.730T>C	CCDS1780.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.653533	0.88056	.	.	ENSG00000152683	ENST00000379343;ENST00000282587;ENST00000435660;ENST00000538303;ENST00000357055;ENST00000406369	T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.69575	0.3126	L	0.43152	1.355	0.80722	D	1	P;P;P;P	0.41214	0.564;0.654;0.742;0.703	P;B;P;P	0.49637	0.617;0.413;0.605;0.549	T	0.71580	-0.4550	10	0.54805	T	0.06	-19.437	15.0759	0.72077	0.0:0.0:0.0:1.0	.	215;244;284;244	B7Z901;Q6NXT4-3;Q6NXT4-2;Q6NXT4	.;.;.;ZNT6_HUMAN	H	284;244;244;215;47;170	ENSP00000368648:Y284H;ENSP00000282587:Y244H;ENSP00000399005:Y244H;ENSP00000440678:Y215H;ENSP00000349563:Y47H;ENSP00000384041:Y170H	ENSP00000282587:Y244H	Y	+	1	0	SLC30A6	32283227	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.472000	0.80996	2.041000	0.60428	0.460000	0.39030	TAT		0.358	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250254.2			21	52	21	52	---	---	---	---
CHST2	9435	broad.mit.edu	37	3	142840957	142840957	+	Silent	SNP	C	C	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr3:142840957C>G	ENST00000309575.3	+	2	2683	c.1299C>G	c.(1297-1299)gtC>gtG	p.V433V		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	433					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GAGACCCCGTCAAGACACTAC	0.597																																						ENST00000309575.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						c.(1297-1299)gtC>gtG		carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2							77.0	71.0	73.0					3																	142840957		2203	4300	6503	SO:0001819	synonymous_variant	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142840957C>G	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.1299C>G	3.37:g.142840957C>G			Somatic					p.V433V	NM_004267.4	NP_004258.2	WXS	Illumina GAIIx	Phase_I	Q9Y4C5	CHST2_HUMAN			2	2683	+			433					D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Silent	SNP	ENST00000309575.3	37	c.1299C>G	CCDS3129.1																																																																																				0.597	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		9	24	9	24	---	---	---	---
HSPA4	3308	broad.mit.edu	37	5	132426987	132426987	+	Missense_Mutation	SNP	G	G	A	rs141758444		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr5:132426987G>A	ENST00000304858.2	+	12	1770	c.1481G>A	c.(1480-1482)aGt>aAt	p.S494N		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	494					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTGTGTCCAGTGCATCTTTA	0.423																																					Colon(114;1299 1588 6063 12302 48757)	ENST00000304858.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32						c.(1480-1482)aGt>aAt		heat shock 70kDa protein 4		G	ASN/SER	0,4406		0,0,2203	196.0	189.0	191.0		1481	5.1	1.0	5	dbSNP_134	191	1,8599	1.2+/-3.3	0,1,4299	no	missense	HSPA4	NM_002154.3	46	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	494/841	132426987	1,13005	2203	4300	6503	SO:0001583	missense	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132426987G>A	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.1481G>A	5.37:g.132426987G>A	ENSP00000302961:p.Ser494Asn		Somatic					p.S494N	NM_002154.3	NP_002145.3	WXS	Illumina GAIIx	Phase_I	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		12	1770	+			494					O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	ENST00000304858.2	37	c.1481G>A	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.259188	0.59321	0.0	1.16E-4	ENSG00000170606	ENST00000304858	T	0.04502	3.61	5.93	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.07458	0.0188	L	0.52759	1.655	0.80722	D	1	B	0.14438	0.01	B	0.16289	0.015	T	0.09143	-1.0688	10	0.54805	T	0.06	-15.1925	14.9754	0.71267	0.0678:0.0:0.9322:0.0	.	494	P34932	HSP74_HUMAN	N	494	ENSP00000302961:S494N	ENSP00000302961:S494N	S	+	2	0	HSPA4	132454886	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.524000	0.81866	1.529000	0.49120	0.655000	0.94253	AGT		0.423	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		17	39	17	39	---	---	---	---
ELOVL4	6785	broad.mit.edu	37	6	80626371	80626371	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr6:80626371A>T	ENST00000369816.4	-	6	1199	c.899T>A	c.(898-900)aTa>aAa	p.I300K		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	300					cellular lipid metabolic process (GO:0044255)|detection of visible light (GO:0009584)|fatty acid biosynthetic process (GO:0006633)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)	G-protein coupled photoreceptor activity (GO:0008020)|transferase activity (GO:0016740)			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	TCCATTTTCTATCATGAGTTG	0.358																																						ENST00000369816.4																			0				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(898-900)aTa>aAa		ELOVL fatty acid elongase 4	Alpha-Linolenic Acid(DB00132)						100.0	89.0	93.0					6																	80626371		2203	4300	6503	SO:0001583	missense	6785				fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups	g.chr6:80626371A>T	AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402			14415	protein-coding gene	gene with protein product	"""cancer/testis antigen 118"""	605512	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4"""	STGD2, STGD3		11138005	Standard	NM_022726		Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.899T>A	6.37:g.80626371A>T	ENSP00000358831:p.Ile300Lys		Somatic					p.I300K	NM_022726.3	NP_073563.1	WXS	Illumina GAIIx	Phase_I	Q9GZR5	ELOV4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0168)	6	1199	-		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)	300					B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Missense_Mutation	SNP	ENST00000369816.4	37	c.899T>A	CCDS4992.1	.	.	.	.	.	.	.	.	.	.	A	4.970	0.180109	0.09443	.	.	ENSG00000118402	ENST00000369816	T	0.16897	2.31	5.61	5.61	0.85477	.	1.061440	0.07071	N	0.835499	T	0.03053	0.0090	N	0.08118	0	0.42457	D	0.992776	B	0.02656	0.0	B	0.01281	0.0	T	0.38329	-0.9666	10	0.08179	T	0.78	-1.9197	10.2731	0.43493	0.8527:0.0:0.0:0.1472	.	300	Q9GZR5	ELOV4_HUMAN	K	300	ENSP00000358831:I300K	ENSP00000358831:I300K	I	-	2	0	ELOVL4	80683090	0.936000	0.31750	0.649000	0.29536	0.207000	0.24258	3.173000	0.50839	2.136000	0.66102	0.455000	0.32223	ATA		0.358	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041315.1			18	39	18	39	---	---	---	---
ABCG4	64137	broad.mit.edu	37	11	119027721	119027721	+	Silent	SNP	T	T	C			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr11:119027721T>C	ENST00000449422.2	+	9	1253	c.1065T>C	c.(1063-1065)ccT>ccC	p.P355P	ABCG4_ENST00000531739.1_Silent_p.P355P|ABCG4_ENST00000307417.3_Silent_p.P355P|AP002956.1_ENST00000599663.1_Intron	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	355					cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTCCTTGTCCTCCGGTGAGTA	0.607																																						ENST00000307417.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(1063-1065)ccT>ccC		ATP-binding cassette, sub-family G (WHITE), member 4							115.0	106.0	109.0					11																	119027721		2200	4295	6495	SO:0001819	synonymous_variant	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119027721T>C	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1065T>C	11.37:g.119027721T>C			Somatic				ABCG4_ENST00000449422.2_Silent_p.P355P|ABCG4_ENST00000531739.1_Silent_p.P355P|AP002956.1_ENST00000599663.1_Intron	p.P355P	NM_022169.4	NP_071452.2	WXS	Illumina GAIIx	Phase_I	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	9	1429	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	355					A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Silent	SNP	ENST00000449422.2	37	c.1065T>C	CCDS8415.1																																																																																				0.607	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		3	107	3	107	---	---	---	---
NECAP1	25977	broad.mit.edu	37	12	8242592	8242592	+	Silent	SNP	A	A	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr12:8242592A>G	ENST00000339754.5	+	2	234	c.156A>G	c.(154-156)aaA>aaG	p.K52K		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	52					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|plasma membrane (GO:0005886)				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		TCACTTCAAAAGGGAAGACTG	0.438																																						ENST00000339754.5																			0				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(154-156)aaA>aaG		NECAP endocytosis associated 1							109.0	114.0	112.0					12																	8242592		2203	4300	6503	SO:0001819	synonymous_variant	25977				endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane		g.chr12:8242592A>G	AK074923	CCDS8589.1	12p13.31	2012-05-02			ENSG00000089818	ENSG00000089818			24539	protein-coding gene	gene with protein product		611623				14555962, 15494011	Standard	NM_015509		Approved	DKFZP566B183	uc001qtx.2	Q8NC96	OTTHUMG00000168568	ENST00000339754.5:c.156A>G	12.37:g.8242592A>G			Somatic					p.K52K	NM_015509.3	NP_056324.2	WXS	Illumina GAIIx	Phase_I	Q8NC96	NECP1_HUMAN		Kidney(36;0.0915)	2	234	+			52					Q2NL73|Q5XG95|Q6NWY6|Q8N153|Q8NCB0|Q9BU52|Q9Y407	Silent	SNP	ENST00000339754.5	37	c.156A>G	CCDS8589.1																																																																																				0.438	NECAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400244.1	NM_015509		3	124	3	124	---	---	---	---
MBD6	114785	broad.mit.edu	37	12	57918089	57918089	+	Start_Codon_SNP	SNP	G	G	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr12:57918089G>T	ENST00000355673.3	+	3	359	c.3G>T	c.(1-3)atG>atT	p.M1I	MBD6_ENST00000549231.1_3'UTR|MBD6_ENST00000431731.2_Start_Codon_SNP_p.M1I	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	1						chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TACACACAATGAATGGGGGCA	0.572																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(1-3)atG>atT		methyl-CpG binding domain protein 6							66.0	59.0	61.0					12																	57918089		2203	4300	6503	SO:0001582	initiator_codon_variant	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57918089G>T	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.3G>T	12.37:g.57918089G>T	ENSP00000347896:p.Met1Ile		Somatic				MBD6_ENST00000549231.1_3'UTR|MBD6_ENST00000431731.2_Start_Codon_SNP_p.M1I	p.M1I	NM_052897.3	NP_443129.3	WXS	Illumina GAIIx	Phase_I	Q96DN6	MBD6_HUMAN			3	359	+			1					Q8N3M0|Q8NA81|Q96Q00	Translation_Start_Site	SNP	ENST00000355673.3	37	c.3G>T	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.438102	0.62955	.	.	ENSG00000166987	ENST00000548887;ENST00000551351;ENST00000546805;ENST00000355673;ENST00000546632;ENST00000431731;ENST00000552255	.	.	.	3.89	3.89	0.44902	.	0.000000	0.64402	D	0.000009	T	0.76456	0.3990	.	.	.	0.80722	D	1	P	0.48294	0.908	P	0.61397	0.888	T	0.80699	-0.1266	8	0.87932	D	0	-2.709	15.1708	0.72872	0.0:0.0:1.0:0.0	.	1	Q96DN6	MBD6_HUMAN	I	1	.	ENSP00000347896:M1I	M	+	3	0	MBD6	56204356	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.503000	0.66962	2.162000	0.67917	0.561000	0.74099	ATG		0.572	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1		Missense_Mutation	4	80	4	80	---	---	---	---
TPTE2P6	374491	broad.mit.edu	37	13	25171525	25171525	+	RNA	SNP	G	G	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr13:25171525G>T	ENST00000453498.1	+	0	1421				TPTE2P6_ENST00000440905.1_RNA																							CTATTCTTAGGCTTTATCTAC	0.353																																						ENST00000453498.1																			0																																																			374491							g.chr13:25171525G>T																													13.37:g.25171525G>T			Somatic				TPTE2P6_ENST00000440905.1_RNA				WXS	Illumina GAIIx	Phase_I					0	1421	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.353	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			7	15	7	15	---	---	---	---
LINC00521	256369	broad.mit.edu	37	14	94464557	94464557	+	RNA	SNP	A	A	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr14:94464557A>G	ENST00000444118.1	+	0	237					NR_024182.1		Q8NCU1	CN048_HUMAN	long intergenic non-protein coding RNA 521																		GGGCTGTGGCAGGAACTCTAC	0.592																																						ENST00000444118.1																			0																				86.0	73.0	77.0					14																	94464557		2203	4300	6503			256369							g.chr14:94464557A>G	BI463117		14q32.12	2012-10-12	2011-11-29	2011-11-29	ENSG00000175699	ENSG00000175699		"""Long non-coding RNAs"""	19860	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 48"""	C14orf48			Standard	NR_024182		Approved		uc001ycg.1	Q8NCU1	OTTHUMG00000156974		14.37:g.94464557A>G			Somatic						NR_024182.1		WXS	Illumina GAIIx	Phase_I					0	237	+								Q8N7S1	RNA	SNP	ENST00000444118.1	37																																																																																						0.592	LINC00521-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000346916.1			8	61	8	61	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51175105	51175105	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr16:51175105A>G	ENST00000251020.4	-	2	1061	c.1028T>C	c.(1027-1029)aTa>aCa	p.I343T	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.I246T|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	343					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CGCTGCCAATATGTTCATATT	0.532																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(736-738)aTa>aCa		spalt-like transcription factor 1							87.0	93.0	91.0					16																	51175105		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175105A>G	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1028T>C	16.37:g.51175105A>G	ENSP00000251020:p.Ile343Thr		Somatic				SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.I343T	p.I246T	NM_001127892.1	NP_001121364.1	WXS	Illumina GAIIx	Phase_I	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1168	-		all_cancers(37;0.0322)	343					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.737T>C	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	A	0.024	-1.394188	0.01175	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.06142	3.34;3.38	4.39	4.39	0.52855	.	0.396892	0.30667	N	0.009126	T	0.02688	0.0081	N	0.04508	-0.205	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.46247	-0.9205	10	0.11485	T	0.65	.	8.4853	0.33067	0.9125:0.0:0.0875:0.0	.	343	Q9NSC2	SALL1_HUMAN	T	343;246;307	ENSP00000251020:I343T;ENSP00000407914:I246T	ENSP00000251020:I343T	I	-	2	0	SALL1	49732606	1.000000	0.71417	0.004000	0.12327	0.940000	0.58332	4.936000	0.63506	1.826000	0.53198	0.260000	0.18958	ATA		0.532	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		5	143	5	143	---	---	---	---
GSDMB	55876	broad.mit.edu	37	17	38073351	38073351	+	Silent	SNP	C	C	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr17:38073351C>T	ENST00000394179.1	-	2	349	c.219G>A	c.(217-219)ctG>ctA	p.L73L	GSDMB_ENST00000309481.7_Silent_p.L73L|GSDMB_ENST00000520542.1_Silent_p.L73L|GSDMB_ENST00000360317.3_Silent_p.L73L|GSDMB_ENST00000394175.2_Silent_p.L73L|GSDMB_ENST00000418519.1_Silent_p.L73L			Q8TAX9	GSDMB_HUMAN	gasdermin B	73						cytoplasm (GO:0005737)				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						GCCCAGAATCCAGTTCATCTA	0.507																																						ENST00000394175.2																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						c.(217-219)ctG>ctA		gasdermin B							125.0	109.0	115.0					17																	38073351		2203	4300	6503	SO:0001819	synonymous_variant	55876					cytoplasm		g.chr17:38073351C>T	AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"""gasdermin-like"""	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.219G>A	17.37:g.38073351C>T			Somatic				GSDMB_ENST00000360317.3_Silent_p.L73L|GSDMB_ENST00000394179.1_Silent_p.L73L|GSDMB_ENST00000418519.1_Silent_p.L73L|GSDMB_ENST00000520542.1_Silent_p.L73L|GSDMB_ENST00000309481.7_Silent_p.L73L	p.L73L	NM_018530.2	NP_061000.2	WXS	Illumina GAIIx	Phase_I	Q8TAX9	GSDMB_HUMAN			1	442	-			73					B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Silent	SNP	ENST00000394179.1	37	c.219G>A		.	.	.	.	.	.	.	.	.	.	C	8.429	0.848272	0.17034	.	.	ENSG00000073605	ENST00000420491	.	.	.	4.23	3.26	0.37387	.	.	.	.	.	.	.	.	.	.	.	0.25598	N	0.986626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.9529	0.30025	0.0:0.8873:0.0:0.1127	.	.	.	.	X	5	.	.	W	-	2	0	GSDMB	35326877	0.000000	0.05858	0.021000	0.16686	0.617000	0.37484	-0.162000	0.10012	1.125000	0.41998	0.555000	0.69702	TGG		0.507	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_018530		7	91	7	91	---	---	---	---
STAT3	6774	broad.mit.edu	37	17	40481653	40481653	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr17:40481653A>C	ENST00000264657.5	-	13	1464	c.1152T>G	c.(1150-1152)ttT>ttG	p.F384L	STAT3_ENST00000588969.1_Missense_Mutation_p.F384L|STAT3_ENST00000585517.1_Missense_Mutation_p.F384L|STAT3_ENST00000404395.3_Missense_Mutation_p.F384L|STAT3_ENST00000389272.3_Missense_Mutation_p.F286L	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	384			F -> L (in AD-HIES). {ECO:0000269|PubMed:17881745}.|F -> S (in AD-HIES). {ECO:0000269|PubMed:17881745}.		acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CCAGAATGTTAAATTTCCGGG	0.458									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	GRCh37	CM086679	STAT3	M		c.(1150-1152)ttT>ttG		signal transducer and activator of transcription 3 (acute-phase response factor)							123.0	120.0	121.0					17																	40481653		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40481653A>C	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1152T>G	17.37:g.40481653A>C	ENSP00000264657:p.Phe384Leu		Somatic				STAT3_ENST00000389272.3_Missense_Mutation_p.F286L|STAT3_ENST00000588969.1_Missense_Mutation_p.F384L|STAT3_ENST00000585517.1_Missense_Mutation_p.F384L|STAT3_ENST00000404395.3_Missense_Mutation_p.F384L	p.F384L	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	WXS	Illumina GAIIx	Phase_I	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	13	1464	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	384		F -> L (in AD-HIES).|F -> S (in AD-HIES).			A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.1152T>G	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.479818	0.84747	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.88124	-2.34;-2.34;-2.34	5.84	3.31	0.37934	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.92028	0.7474	M	0.83223	2.63	0.58432	D	0.99999	D;D;D	0.63880	0.992;0.993;0.993	D;D;D	0.74348	0.971;0.983;0.983	D	0.90146	0.4217	10	0.33940	T	0.23	-22.0865	9.2746	0.37692	0.7788:0.0:0.2212:0.0	.	384;384;384	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	L	384;286;384	ENSP00000264657:F384L;ENSP00000373923:F286L;ENSP00000384943:F384L	ENSP00000264657:F384L	F	-	3	2	STAT3	37735179	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.717000	0.37991	1.051000	0.40369	0.533000	0.62120	TTT		0.458	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		3	88	3	88	---	---	---	---
SMAD4	4089	broad.mit.edu	37	18	48591894	48591894	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr18:48591894T>A	ENST00000342988.3	+	9	1595	c.1057T>A	c.(1057-1059)Tac>Aac	p.Y353N	SMAD4_ENST00000588745.1_Missense_Mutation_p.Y257N|SMAD4_ENST00000398417.2_Missense_Mutation_p.Y353N	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	353	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGTTGATGGATACGTGGACCC	0.438																																						ENST00000342988.3																			38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1057-1059)Tac>Aac		SMAD family member 4							234.0	195.0	208.0					18																	48591894		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591894T>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1057T>A	18.37:g.48591894T>A	ENSP00000341551:p.Tyr353Asn		Somatic				SMAD4_ENST00000398417.2_Missense_Mutation_p.Y353N|SMAD4_ENST00000588745.1_Missense_Mutation_p.Y257N	p.Y353N	NM_005359.5	NP_005350.1	WXS	Illumina GAIIx	Phase_I	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1595	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	353			MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1057T>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.984343	0.93044	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98987	-5.3;-5.3	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99299	0.9755	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99164	1.0862	10	0.87932	D	0	.	15.2431	0.73485	0.0:0.0:0.0:1.0	.	353	Q13485	SMAD4_HUMAN	N	353	ENSP00000341551:Y353N;ENSP00000381452:Y353N	ENSP00000341551:Y353N	Y	+	1	0	SMAD4	46845892	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.890000	0.87313	2.237000	0.73441	0.460000	0.39030	TAC		0.438	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		25	42	25	42	---	---	---	---
GBA2	57704	broad.mit.edu	37	9	35736505	35736506	+	IGR	DEL	TG	TG	-			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr9:35736505_35736506delTG	ENST00000378103.3	-	0	3611				GBA2_ENST00000467252.1_5'Flank|CREB3_ENST00000353704.2_Frame_Shift_Del_p.C300fs|CREB3_ENST00000486056.1_3'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CGGCTCAGACTGTGTACTCCAG	0.614											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000353704.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9						c.(898-900)tgtfs		cAMP responsive element binding protein 3																																				SO:0001628	intergenic_variant	10488				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr9:35736505_35736506delTG	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35736507_35736508delTG			Somatic	OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	857	CREB3_ENST00000486056.1_3'UTR	p.C300fs	NM_006368.4	NP_006359.3	WXS	Illumina GAIIx	Phase_I	O43889	CREB3_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)	9	1336_1337	+	all_epithelial(49;0.167)		324					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Frame_Shift_Del	DEL	ENST00000378103.3	37	c.898_899delTG	CCDS6589.1																																																																																				0.614	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		10	129	10	129	---	---	---	---
TTLL12	23170	broad.mit.edu	37	22	43578990	43578991	+	Frame_Shift_Ins	INS	-	-	G	rs34872708		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr22:43578990_43578991insG	ENST00000216129.6	-	2	405_406	c.342_343insC	c.(340-345)cccaacfs	p.N115fs		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	115					cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TCCTACCTGTTGGGGTGGGCTG	0.639																																						ENST00000216129.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13						c.(340-345)cccaacfs		tubulin tyrosine ligase-like family, member 12																																				SO:0001589	frameshift_variant	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43578990_43578991insG	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.343dupC	22.37:g.43578994_43578994dupG	ENSP00000216129:p.Asn115fs		Somatic					p.N115fs	NM_015140.3	NP_055955.1	WXS	Illumina GAIIx	Phase_I	Q14166	TTL12_HUMAN			2	405_406	-		Ovarian(80;0.221)|Glioma(61;0.222)	115					Q20WK5|Q9UGU3	Frame_Shift_Ins	INS	ENST00000216129.6	37	c.342_343insC	CCDS14047.1																																																																																				0.639	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		18	32	18	32	---	---	---	---
