#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_BAM_File	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_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
VCAM1	7412	genome.wustl.edu	37	1	101196837	101196837	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2991-03A-01D-0739-09	TCGA-AB-2991-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	70fdce87-0e0c-489a-84bf-ad4e0206a8e7	4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a	g.chr1:101196837G>A	ENST00000294728.2	+	6	1389	c.1288G>A	c.(1288-1290)Gtg>Atg	p.V430M	VCAM1_ENST00000347652.2_Missense_Mutation_p.V338M|VCAM1_ENST00000370119.4_Missense_Mutation_p.V368M|VCAM1_ENST00000370115.1_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	430	Ig-like C2-type 5.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)	p.V430M(2)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGTTCCTAGCGTGTACCCCCT	0.468																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	1											68.0	71.0	70.0					1																	101196837		2203	4300	6503	100969425	SO:0001583	missense	0			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1288G>A	1.37:g.101196837G>A	ENSP00000294728:p.Val430Met	Somatic	1112	0.00	0		8	0.00	0	WXS	Illumina HiSeq	Phase_IV	100969425	597	30.18	258	A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_C2-set,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin	p.V430M	ENST00000294728.2	37	c.1288	CCDS773.1	1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581859	0.46006	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728	T;T;T	0.26957	1.7;1.7;1.7	5.52	4.58	0.56647	Immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.126553	0.52532	D	0.000063	T	0.44540	0.1298	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.997	T	0.26744	-1.0094	10	0.41790	T	0.15	-19.2323	13.2468	0.60028	0.0746:0.0:0.9254:0.0	.	368;338;430	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	M	368;338;430	ENSP00000359137:V368M;ENSP00000304611:V338M;ENSP00000294728:V430M	ENSP00000294728:V430M	V	+	1	0	VCAM1	100969425	1.000000	0.71417	0.968000	0.41197	0.025000	0.11179	6.029000	0.70895	2.873000	0.98535	0.563000	0.77884	GTG	-	HMMPfam_C2-set,superfamily_Immunoglobulin		0.468	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCAM1	protein_coding	OTTHUMT00000030213.1	G	NM_001078		100969425	+1	no_errors	NM_001078.2	genbank	human	reviewed	54_36p	missense	SNP	0.987	A
KIDINS220	57498	genome.wustl.edu	37	2	8890360	8890360	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2991-03A-01D-0739-09	TCGA-AB-2991-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	70fdce87-0e0c-489a-84bf-ad4e0206a8e7	4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a	g.chr2:8890360G>A	ENST00000256707.3	-	24	3477	c.3296C>T	c.(3295-3297)cCa>cTa	p.P1099L	KIDINS220_ENST00000427284.1_Missense_Mutation_p.P1099L|KIDINS220_ENST00000418530.1_Missense_Mutation_p.P1057L|KIDINS220_ENST00000473731.1_Missense_Mutation_p.P1099L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1099					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)	p.P1099Q(1)|p.P1099L(1)		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)					GCACACGGATGGGGGCTGGCT	0.622																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(1)|kidney(1)	2											73.0	76.0	75.0					2																	8890360		2005	4171	6176	8807811	SO:0001583	missense	0			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.3296C>T	2.37:g.8890360G>A	ENSP00000256707:p.Pro1099Leu	Somatic	608	0.00	0		19	47.22	17	WXS	Illumina HiSeq	Phase_IV	8807811	296	39.09	190	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,superfamily_SAM/Pointed domain,HMMPfam_KAP_NTPase	p.P1099L	ENST00000256707.3	37	c.3296	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251795	0.39797	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000459813	T;T;T;T;T;T	0.66815	0.81;-0.22;-0.18;-0.14;-0.18;-0.23	5.79	4.88	0.63580	.	0.442134	0.26719	N	0.022852	T	0.49762	0.1576	N	0.08118	0	0.23506	N	0.997534	B;B;B;B;B	0.15930	0.005;0.001;0.005;0.015;0.005	B;B;B;B;B	0.20955	0.004;0.005;0.027;0.032;0.014	T	0.49390	-0.8945	10	0.52906	T	0.07	.	16.9108	0.86139	0.0:0.1275:0.8725:0.0	.	1100;1100;783;1057;1099	B4DK94;E9PH70;B4DGY1;Q9ULH0-2;Q9ULH0	.;.;.;.;KDIS_HUMAN	L	846;783;1099;1099;1057;1099;1100;108	ENSP00000420364:P846L;ENSP00000256707:P1099L;ENSP00000411849:P1099L;ENSP00000414923:P1057L;ENSP00000418974:P1099L;ENSP00000419964:P1100L	ENSP00000256707:P1099L	P	-	2	0	KIDINS220	8807811	1.000000	0.71417	0.021000	0.16686	0.120000	0.20174	7.624000	0.83124	2.733000	0.93635	0.655000	0.94253	CCA	-	NULL		0.622	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	protein_coding	OTTHUMT00000323408.2	G	NM_020738		8807811	-1	no_errors	NM_020738.2	genbank	human	validated	54_36p	missense	SNP	0.282	A
SLC51A	200931	genome.wustl.edu	37	3	195955063	195955063	+	Missense_Mutation	SNP	C	C	T	rs199724366		TCGA-AB-2991-03A-01D-0739-09	TCGA-AB-2991-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	70fdce87-0e0c-489a-84bf-ad4e0206a8e7	4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a	g.chr3:195955063C>T	ENST00000296327.5	+	5	649	c.440C>T	c.(439-441)aCg>aTg	p.T147M		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	147					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)	p.T147M(1)								Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	GTGCTGAGGACGCTGAGGGAC	0.637																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	3											171.0	168.0	169.0					3																	195955063		2203	4300	6503	197439460	SO:0001583	missense	0				CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.440C>T	3.37:g.195955063C>T	ENSP00000296327:p.Thr147Met	Somatic	882	0.34	3		1	50.00	1	WXS	Illumina HiSeq	Phase_IV	197439460	261	41.74	187	Q6ZMC7	Missense_Mutation	SNP	NULL	p.T147M	ENST00000296327.5	37	c.440	CCDS3314.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.32|10.32	1.318276|1.318276	0.23994|0.23994	.|.	.|.	ENSG00000163959|ENSG00000163959	ENST00000428985|ENST00000296327	.|T	.|0.44482	.|0.92	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	.|0.129561	.|0.35291	.|N	.|0.003315	T|T	0.39036|0.39036	0.1063|0.1063	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	.|P	.|0.37176	.|0.586	.|B	.|0.28139	.|0.086	T|T	0.27706|0.27706	-1.0066|-1.0066	5|10	.|0.27082	.|T	.|0.32	.|.	13.1115|13.1115	0.59277|0.59277	0.1599:0.8401:0.0:0.0|0.1599:0.8401:0.0:0.0	.|.	.|147	.|Q86UW1	.|OSTA_HUMAN	C|M	160|147	.|ENSP00000296327:T147M	.|ENSP00000296327:T147M	R|T	+|+	1|2	0|0	AC069257.9|AC069257.9	197439460|197439460	0.794000|0.794000	0.28838|0.28838	0.995000|0.995000	0.50966|0.50966	0.225000|0.225000	0.24961|0.24961	1.699000|1.699000	0.37804|0.37804	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	CGC|ACG	-	NULL		0.637	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSTalpha	protein_coding	OTTHUMT00000341253.1	C	NM_152672		197439460	+1	no_errors	NM_152672.5	genbank	human	validated	54_36p	missense	SNP	0.998	T
LOC100128340	100128340	genome.wustl.edu	37	5	177378293	177378293	+	RNA	SNP	C	C	T			TCGA-AB-2991-03A-01D-0739-09	TCGA-AB-2991-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	70fdce87-0e0c-489a-84bf-ad4e0206a8e7	4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a	g.chr5:177378293C>T	ENST00000502514.1	+	0	231				RP11-423H2.3_ENST00000503263.1_RNA|RP11-423H2.3_ENST00000366189.3_RNA|RP11-423H2.3_ENST00000507072.1_RNA|RP11-1252I4.2_ENST00000511650.1_RNA																							CTCAGTGTTTCCCTCAGTCCT	0.592																																						dbGAP											0			5																																								177310899			0																															5.37:g.177378293C>T		Somatic	221	0.00	0		1	0.00	0	WXS	Illumina HiSeq	Phase_IV	177310899	100	38.65	63		Missense_Mutation	SNP	NULL	p.P35S	ENST00000502514.1	37	c.103		5																																																																																			-	NULL		0.592	RP11-423H2.3-001	KNOWN	basic	antisense	LOC100128340	antisense	OTTHUMT00000373528.1	C			177310899	+1	no_errors	XM_001721455.1	genbank	human	model	54_36p	missense	SNP	0.000	T
CCDC136	64753	genome.wustl.edu	37	7	128451964	128451964	+	Silent	SNP	G	G	A			TCGA-AB-2991-03A-01D-0739-09	TCGA-AB-2991-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	70fdce87-0e0c-489a-84bf-ad4e0206a8e7	4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a	g.chr7:128451964G>A	ENST00000297788.4	+	13	2506	c.2139G>A	c.(2137-2139)cgG>cgA	p.R713R	CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	713						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.R713R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TAGAGGAGCGGAAGAGGCTGC	0.562																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	7											67.0	68.0	68.0					7																	128451964		1917	4141	6058	128239200	SO:0001819	synonymous_variant	0				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.2139G>A	7.37:g.128451964G>A		Somatic	1272	0.00	0		0	100.00	1	WXS	Illumina HiSeq	Phase_IV	128239200	409	43.06	310	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Silent	SNP	superfamily_Prefoldin,superfamily_Spectrin repeat	p.R713	ENST00000297788.4	37	c.2139	CCDS47704.1	7	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400659	0.25291	.	.	ENSG00000128596	ENST00000494552	.	.	.	5.93	-1.1	0.09872	.	.	.	.	.	T	0.55321	0.1913	.	.	.	0.49389	D	0.999787	.	.	.	.	.	.	T	0.50591	-0.8810	4	.	.	.	-15.005	9.7583	0.40517	0.154:0.5013:0.3447:0.0	.	.	.	.	E	590	.	.	G	+	2	0	CCDC136	128239200	0.020000	0.18652	0.969000	0.41365	0.988000	0.76386	-0.451000	0.06795	-0.109000	0.12044	0.561000	0.74099	GGA	-	superfamily_Spectrin repeat		0.562	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC136	protein_coding	OTTHUMT00000350641.1	G	NM_022742		128239200	+1	no_errors	NM_022742.3	genbank	human	validated	54_36p	silent	SNP	0.972	A
ARID2	196528	genome.wustl.edu	37	12	46254719	46254719	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2991-03A-01D-0739-09	TCGA-AB-2991-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	70fdce87-0e0c-489a-84bf-ad4e0206a8e7	4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a	g.chr12:46254719C>T	ENST00000334344.6	+	16	5081	c.4909C>T	c.(4909-4911)Cag>Tag	p.Q1637*	ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q1247*|ARID2_ENST00000457135.1_Nonsense_Mutation_p.Q245*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q1488*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1637					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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.Q1637*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTGTCTGTGGCAGTCTTGTAA	0.383			"""N, S, F"""		hepatocellular carcinoma																																	dbGAP		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	12											57.0	58.0	57.0					12																	46254719		2203	4300	6503	44540986	SO:0001587	stop_gained	0				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.4909C>T	12.37:g.46254719C>T	ENSP00000335044:p.Gln1637*	Somatic	767	0.13	1		16	15.79	3	WXS	Illumina HiSeq	Phase_IV	44540986	623	26.04	220	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Nonsense_Mutation	SNP	"HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like,PatternScan_ZINC_FINGER_C2H2_1,superfamily_""Winged helix"" DNA-binding domain"	p.Q1637*	ENST00000334344.6	37	c.4909	CCDS31783.1	12	.	.	.	.	.	.	.	.	.	.	C	46	12.775291	0.99695	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	.	.	.	5.86	5.86	0.93980	.	0.054140	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-4.307	20.1986	0.98248	0.0:1.0:0.0:0.0	.	.	.	.	X	1637;754;754;1488;1247;245	.	ENSP00000335044:Q1637X	Q	+	1	0	ARID2	44540986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.372000	0.79612	2.781000	0.95711	0.650000	0.86243	CAG	-	PatternScan_ZINC_FINGER_C2H2_1		0.383	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	protein_coding	OTTHUMT00000318380.2	C	XM_350875		44540986	+1	no_errors	NM_152641.2	genbank	human	validated	54_36p	nonsense	SNP	1.000	T
CCDC60	160777	genome.wustl.edu	37	12	119918834	119918834	+	Intron	SNP	C	C	T			TCGA-AB-2991-03A-01D-0739-09	TCGA-AB-2991-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	70fdce87-0e0c-489a-84bf-ad4e0206a8e7	4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a	g.chr12:119918834C>T	ENST00000327554.2	+	4	914				RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60											endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		tcaccaccatcatcatcatca	0.453																																						dbGAP											0			12																																								118403217	SO:0001627	intron_variant	0			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.449+1828C>T	12.37:g.119918834C>T		Somatic	1226	0.24	3		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	118403217	350	38.49	219		Missense_Mutation	SNP	NULL	p.D30N	ENST00000327554.2	37	c.88	CCDS9190.1	12																																																																																			-	NULL		0.453	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100132232	protein_coding	OTTHUMT00000401680.1	C	NM_178499		118403217	-1	no_errors	XM_001716552.1	genbank	human	model	54_36p	missense	SNP	0.075	T
MYCBP2	23077	genome.wustl.edu	37	13	77730270	77730270	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2991-03A-01D-0739-09	TCGA-AB-2991-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	70fdce87-0e0c-489a-84bf-ad4e0206a8e7	4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a	g.chr13:77730270G>A	ENST00000544440.2	-	46	6741	c.6724C>T	c.(6724-6726)Cgt>Tgt	p.R2242C	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R2242C|MYCBP2_ENST00000407578.2_Missense_Mutation_p.R2280C					MYC binding protein 2, E3 ubiquitin protein ligase									p.R2242C(2)|p.R2280C(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CAACCACAACGAATATCATCC	0.373																																						dbGAP											4	Substitution - Missense(4)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(2)	13											123.0	106.0	112.0					13																	77730270		2203	4300	6503	76628271	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.6724C>T	13.37:g.77730270G>A	ENSP00000444596:p.Arg2242Cys	Somatic	1751	0.34	6		27	32.50	13	WXS	Illumina HiSeq	Phase_IV	76628271	951	24.31	306		Missense_Mutation	SNP	HMMPfam_RCC1,PatternScan_RCC1_2,HMMSmart_SM00184,superfamily_Galactose-binding domain-like,superfamily_RCC1/BLIP-II,HMMPfam_PHR,superfamily_E set domains,superfamily_RING/U-box	p.R2242C	ENST00000544440.2	37	c.6724		13	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650690	0.87958	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.51817	0.69;0.69;0.69	5.6	5.6	0.85130	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.65315	-0.6198	10	0.87932	D	0	.	14.4557	0.67416	0.0:0.0:0.8528:0.1472	.	2242	O75592	MYCB2_HUMAN	C	2242;2280;2242	ENSP00000349892:R2242C;ENSP00000384288:R2280C;ENSP00000444596:R2242C	ENSP00000349892:R2242C	R	-	1	0	MYCBP2	76628271	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.596000	0.61055	2.630000	0.89119	0.655000	0.94253	CGT	-	superfamily_E set domains		0.373	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	protein_coding	OTTHUMT00000045326.1	G	NM_015057		76628271	-1	no_errors	NM_015057.3	genbank	human	validated	54_36p	missense	SNP	1.000	A
MAX	4149	genome.wustl.edu	37	14	65544747	65544747	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2991-03A-01D-0739-09	TCGA-AB-2991-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	70fdce87-0e0c-489a-84bf-ad4e0206a8e7	4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a	g.chr14:65544747C>T	ENST00000358664.4	-	4	309	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	MAX_ENST00000341653.2_Intron|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000557746.1_Missense_Mutation_p.R51Q|MAX_ENST00000555667.1_Missense_Mutation_p.R51Q|MAX_ENST00000555932.1_Intron|MAX_ENST00000556443.1_Missense_Mutation_p.R51Q|MAX_ENST00000284165.6_Missense_Mutation_p.R60Q|MAX_ENST00000555419.1_Missense_Mutation_p.R24Q|MAX_ENST00000358402.4_Missense_Mutation_p.R51Q|MAX_ENST00000556979.1_Missense_Mutation_p.R60Q	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X	60	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.R60Q(5)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GATTTGGGCCCGGGATGCCTG	0.498																																						dbGAP											5	Substitution - Missense(5)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)	14											100.0	88.0	92.0					14																	65544747		2203	4300	6503	64614500	SO:0001583	missense	0				CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"""Basic helix-loop-helix proteins"""	6913	protein-coding gene	gene with protein product		154950	"""MAX protein"""			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.179G>A	14.37:g.65544747C>T	ENSP00000351490:p.Arg60Gln	Somatic	536	0.37	2		339	18.76	79	WXS	Illumina HiSeq	Phase_IV	64614500	252	11.27	32	A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Missense_Mutation	SNP	HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain	p.R60Q	ENST00000358664.4	37	c.179	CCDS9771.1	14	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661506	0.67700	.	.	ENSG00000125952	ENST00000358402;ENST00000284165;ENST00000358664;ENST00000555419;ENST00000441116;ENST00000556979;ENST00000555667;ENST00000557746;ENST00000556443	D;D;D;D;D;D;D;D	0.97870	-4.58;-4.58;-4.58;-4.32;-4.58;-4.58;-4.58;-4.58	5.72	3.91	0.45181	Helix-loop-helix DNA-binding (5);	0.119749	0.56097	D	0.000028	D	0.98492	0.9497	M	0.84326	2.69	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.991;0.994;0.995;0.985	D	0.98698	1.0699	10	0.87932	D	0	-3.6574	11.4065	0.49900	0.0:0.8517:0.0:0.1483	.	60;51;51;60;60	Q14803;Q6V3B1;P61244-2;P61244;P61244-3	.;.;.;MAX_HUMAN;.	Q	51;60;60;24;67;60;51;51;51	ENSP00000351175:R51Q;ENSP00000284165:R60Q;ENSP00000351490:R60Q;ENSP00000452405:R24Q;ENSP00000452378:R60Q;ENSP00000452286:R51Q;ENSP00000452197:R51Q;ENSP00000450818:R51Q	ENSP00000284165:R60Q	R	-	2	0	MAX	64614500	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.037000	0.70956	0.774000	0.33427	-0.140000	0.14226	CGG	-	HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain		0.498	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MAX	protein_coding	OTTHUMT00000286386.1	C	NM_197957		64614500	-1	no_errors	NM_002382.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ZNF788	388507	genome.wustl.edu	37	19	12223966	12223966	+	Missense_Mutation	SNP	G	G	A	rs546621372		TCGA-AB-2991-03A-01D-0739-09	TCGA-AB-2991-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	70fdce87-0e0c-489a-84bf-ad4e0206a8e7	4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a	g.chr19:12223966G>A	ENST00000339302.4	+	3	2241	c.1604G>A	c.(1603-1605)cGt>cAt	p.R535H	ZNF20_ENST00000600335.1_Intron|ZNF788_ENST00000397759.3_Intron|ZNF788_ENST00000430298.2_3'UTR			Q6ZQV5	ZN788_HUMAN	zinc finger family member 788	535					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.R535H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						TTTAATGACCGTGGGAAATCA	0.358													G|||	1	0.000199681	0.0	0.0	5008	,	,		21500	0.0		0.001	False		,,,				2504	0.0				Melanoma(116;440 1644 18510 25456 49479)	dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	19																																								12084966	SO:0001583	missense	0			AI566055		19p13.2	2013-01-08	2006-08-16		ENSG00000214189	ENSG00000214189		"""Zinc fingers, C2H2-type"""	33112	protein-coding gene	gene with protein product							Standard	NR_027049		Approved	FLJ46419	uc002mtd.3	Q6ZQV5	OTTHUMG00000156416	ENST00000339302.4:c.1604G>A	19.37:g.12223966G>A	ENSP00000342021:p.Arg535His	Somatic	637	0.00	0		3	40.00	2	WXS	Illumina HiSeq	Phase_IV	12084966	313	26.53	113	Q6ZRE4	Missense_Mutation	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667	p.R535H	ENST00000339302.4	37	c.1604		19	.	.	.	.	.	.	.	.	.	.	G	9.756	1.168743	0.21621	.	.	ENSG00000188474	ENST00000339302	T	0.14766	2.48	0.954	-0.181	0.13291	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10380	0.0254	.	.	.	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.15150	-1.0447	7	0.87932	D	0	.	6.6582	0.22998	0.1836:0.0:0.8164:0.0	.	535	Q6ZQV5	ZN788_HUMAN	H	535	ENSP00000342021:R535H	ENSP00000342021:R535H	R	+	2	0	AC022415.1	12084966	0.958000	0.32768	0.001000	0.08648	0.011000	0.07611	3.606000	0.54095	-0.019000	0.14055	-0.704000	0.03662	CGT	-	superfamily_SSF57667		0.358	ZNF788-201	KNOWN	basic|appris_principal	protein_coding	ZNF788	protein_coding		G	XM_930581		12084966	+1	no_errors	ENST00000339302	ensembl	human	known	54_36p	missense	SNP	0.989	A
CNOT3	4849	genome.wustl.edu	37	19	54656934	54656934	+	Intron	SNP	C	C	T			TCGA-AB-2991-03A-01D-0739-09	TCGA-AB-2991-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	70fdce87-0e0c-489a-84bf-ad4e0206a8e7	4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a	g.chr19:54656934C>T	ENST00000406403.1	+	15	3640				CNOT3_ENST00000221232.5_Intron|CNOT3_ENST00000358389.3_Missense_Mutation_p.T504I|CNOT3_ENST00000496327.1_Intron			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3						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 stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.T504I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GATGTTAGAACTGCTTGGGTT	0.682																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	19											32.0	32.0	32.0					19																	54656934		876	1991	2867	59348746	SO:0001627	intron_variant	0			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.2037+198C>T	19.37:g.54656934C>T		Somatic	451	0.44	2		0	100.00	1	WXS	Illumina HiSeq	Phase_IV	59348746	162	23.94	51	Q9NZN7|Q9UF76	Missense_Mutation	SNP	HMMPfam_Not3	p.T504I	ENST00000406403.1	37	c.1511	CCDS12880.1	19	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080941	0.36758	.	.	ENSG00000088038	ENST00000358389	.	.	.	2.39	1.33	0.21861	.	.	.	.	.	T	0.38506	0.1043	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37663	-0.9696	5	0.87932	D	0	.	4.4174	0.11463	0.0:0.7974:0.0:0.2026	.	.	.	.	I	504	.	ENSP00000351159:T504I	T	+	2	0	CNOT3	59348746	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	-0.074000	0.11450	0.558000	0.29135	0.561000	0.74099	ACT	-	NULL		0.682	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT3	protein_coding	OTTHUMT00000142130.3	C	NM_014516		59348746	+1	no_errors	ENST00000358389	ensembl	human	known	54_36p	missense	SNP	0.000	T
KRTAP26-1	388818	genome.wustl.edu	37	21	31692113	31692113	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2991-03A-01D-0739-09	TCGA-AB-2991-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	70fdce87-0e0c-489a-84bf-ad4e0206a8e7	4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a	g.chr21:31692113C>T	ENST00000360542.3	-	1	494	c.241G>A	c.(241-243)Ggt>Agt	p.G81S		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	81						intermediate filament (GO:0005882)		p.G81S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GTGGAAGAACCGCAAGAGGTT	0.542																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	21											120.0	117.0	118.0					21																	31692113		2203	4300	6503	30613984	SO:0001583	missense	0			AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"""Keratin associated proteins"""	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.241G>A	21.37:g.31692113C>T	ENSP00000353742:p.Gly81Ser	Somatic	1542	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	30613984	556	38.77	352	B0RZD3	Missense_Mutation	SNP	HMMPfam_PMG	p.G81S	ENST00000360542.3	37	c.241	CCDS13588.1	21	.	.	.	.	.	.	.	.	.	.	C	6.804	0.517374	0.13005	.	.	ENSG00000197683	ENST00000360542	T	0.03004	4.08	4.99	-2.35	0.06684	.	0.529406	0.17771	N	0.162596	T	0.01765	0.0056	N	0.11560	0.145	0.09310	N	1	B	0.22851	0.076	B	0.16722	0.016	T	0.44757	-0.9307	10	0.32370	T	0.25	1.1381	6.1025	0.20055	0.2921:0.4352:0.0:0.2727	.	81	Q6PEX3	KR261_HUMAN	S	81	ENSP00000353742:G81S	ENSP00000353742:G81S	G	-	1	0	KRTAP26-1	30613984	0.000000	0.05858	0.000000	0.03702	0.864000	0.49448	-0.261000	0.08694	-0.135000	0.11495	-0.266000	0.10368	GGT	-	HMMPfam_PMG		0.542	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP26-1	protein_coding	OTTHUMT00000128218.1	C	NM_203405		30613984	-1	no_errors	NM_203405.1	genbank	human	validated	54_36p	missense	SNP	0.000	T
