#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_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_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
BDKRB1	623	genome.wustl.edu	37	14	96730636	96730636	+	Missense_Mutation	SNP	T	T	C			TCGA-GM-A2DN-01A-11D-A17W-09	TCGA-GM-A2DN-10C-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6101e95-5296-4040-af52-0159a21e63b5	70bb3d92-770c-426e-98c5-35362229d54a	g.chr14:96730636T>C	ENST00000216629.6	+	3	1223	c.617T>C	c.(616-618)tTa>tCa	p.L206S	BDKRB1_ENST00000553356.1_Missense_Mutation_p.L206S|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	206					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		ATTGTGGAGTTAAATATTCTG	0.567																																						dbGAP											0													90.0	81.0	84.0					14																	96730636		2203	4300	6503	-	-	-	SO:0001583	missense	0			L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"""GPCR / Class A : Bradykinin receptors"""	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.617T>C	14.37:g.96730636T>C	ENSP00000216629:p.Leu206Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7F5|Q546S7|Q8N0Y8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_BK_rcpt_B1,prints_7TM_GPCR_Rhodpsn,prints_Brdyknn_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.L206S	ENST00000216629.6	37	c.617	CCDS9943.1	14	.	.	.	.	.	.	.	.	.	.	T	11.54	1.668075	0.29604	.	.	ENSG00000100739	ENST00000216629;ENST00000553356	T;T	0.70045	-0.45;-0.45	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.504726	0.19028	U	0.124635	T	0.75155	0.3811	L	0.45581	1.43	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.77004	0.958;0.989	T	0.66559	-0.5893	10	0.72032	D	0.01	-12.1183	11.1636	0.48531	0.0:0.0:0.1536:0.8464	.	206;206	G3V4Y2;P46663	.;BKRB1_HUMAN	S	206	ENSP00000216629:L206S;ENSP00000452064:L206S	ENSP00000216629:L206S	L	+	2	0	BDKRB1	95800389	0.452000	0.25713	0.017000	0.16124	0.047000	0.14425	3.965000	0.56788	1.853000	0.53794	0.379000	0.24179	TTA	BDKRB1	-	pfam_7TM_GPCR_Rhodpsn,prints_BK_rcpt_B1,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000100739		0.567	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BDKRB1	HGNC	protein_coding	OTTHUMT00000413300.1	62	0.00	0	T			96730636	96730636	+1	no_errors	ENST00000216629	ensembl	human	known	69_37n	missense	51	20.31	13	SNP	0.024	C
CACNA1S	779	genome.wustl.edu	37	1	201030401	201030401	+	Silent	SNP	C	C	T			TCGA-GM-A2DN-01A-11D-A17W-09	TCGA-GM-A2DN-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6101e95-5296-4040-af52-0159a21e63b5	70bb3d92-770c-426e-98c5-35362229d54a	g.chr1:201030401C>T	ENST00000362061.3	-	25	3475	c.3249G>A	c.(3247-3249)aaG>aaA	p.K1083K	CACNA1S_ENST00000367338.3_Silent_p.K1083K	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1083					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCACCTGGTTCTTGTCCAGCT	0.572																																						dbGAP											0													105.0	84.0	91.0					1																	201030401		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3249G>A	1.37:g.201030401C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.K1083	ENST00000362061.3	37	c.3249	CCDS1407.1	1																																																																																			CACNA1S	-	prints_VDCCAlpha1	ENSG00000081248		0.572	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1	125	0.00	0	C	NM_000069		201030401	201030401	-1	no_errors	ENST00000362061	ensembl	human	known	69_37n	silent	139	28.35	55	SNP	1.000	T
CDH3	1001	genome.wustl.edu	37	16	68725808	68725808	+	Missense_Mutation	SNP	G	G	T			TCGA-GM-A2DN-01A-11D-A17W-09	TCGA-GM-A2DN-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6101e95-5296-4040-af52-0159a21e63b5	70bb3d92-770c-426e-98c5-35362229d54a	g.chr16:68725808G>T	ENST00000264012.4	+	13	2525	c.1981G>T	c.(1981-1983)Ggg>Tgg	p.G661W	CDH3_ENST00000429102.2_Missense_Mutation_p.G661W|CDH3_ENST00000581171.1_Missense_Mutation_p.G606W	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	661					adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CCCTGTGCTGGGGGCTGTCCT	0.602																																						dbGAP											2	Unknown(2)	breast(2)											77.0	67.0	71.0					16																	68725808		2198	4300	6498	-	-	-	SO:0001583	missense	0			X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1981G>T	16.37:g.68725808G>T	ENSP00000264012:p.Gly661Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6F4|Q05DI6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G661W	ENST00000264012.4	37	c.1981	CCDS10868.1	16	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561685	0.65538	.	.	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	T;T	0.59224	0.28;0.31	5.61	5.61	0.85477	.	0.000000	0.40144	N	0.001162	T	0.78685	0.4322	M	0.82323	2.585	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.80618	-0.1302	10	0.66056	D	0.02	.	17.4871	0.87692	0.0:0.0:1.0:0.0	.	661	P22223	CADH3_HUMAN	W	661;661;606	ENSP00000398485:G661W;ENSP00000264012:G661W	ENSP00000264012:G661W	G	+	1	0	CDH3	67283309	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	6.708000	0.74660	2.804000	0.96469	0.462000	0.41574	GGG	CDH3	-	NULL	ENSG00000062038		0.602	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH3	HGNC	protein_coding	OTTHUMT00000268896.2	38	0.00	0	G	NM_001793		68725808	68725808	+1	no_errors	ENST00000264012	ensembl	human	known	69_37n	missense	29	12.12	4	SNP	1.000	T
CLTC	1213	genome.wustl.edu	37	17	57725727	57725727	+	Missense_Mutation	SNP	T	T	C			TCGA-GM-A2DN-01A-11D-A17W-09	TCGA-GM-A2DN-10C-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6101e95-5296-4040-af52-0159a21e63b5	70bb3d92-770c-426e-98c5-35362229d54a	g.chr17:57725727T>C	ENST00000269122.3	+	4	920	c.646T>C	c.(646-648)Ttt>Ctt	p.F216L	CLTC_ENST00000393043.1_Missense_Mutation_p.F216L|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	216	Globular terminal domain.|WD40-like repeat 5.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATCAACGTTATTTTGTTTTGC	0.393			T	"""ALK, TFE3"""	"""ALCL, renal """																																	dbGAP		Dom	yes		17	17q11-qter	1213	"""clathrin, heavy polypeptide (Hc)"""		L	0													194.0	173.0	180.0					17																	57725727		2203	4300	6503	-	-	-	SO:0001583	missense	0			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.646T>C	17.37:g.57725727T>C	ENSP00000269122:p.Phe216Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.F216L	ENST00000269122.3	37	c.646	CCDS32696.1	17	.	.	.	.	.	.	.	.	.	.	T	28.7	4.945436	0.92593	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.21543	2.0;2.0	6.11	6.11	0.99139	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.85682	D	0.000000	T	0.32645	0.0836	L	0.53729	1.69	0.80722	D	1	P;B	0.42375	0.778;0.011	P;B	0.48815	0.591;0.083	T	0.01021	-1.1478	10	0.33940	T	0.23	.	16.7021	0.85357	0.0:0.0:0.0:1.0	.	216;216	Q00610;Q00610-2	CLH1_HUMAN;.	L	216	ENSP00000269122:F216L;ENSP00000376763:F216L	ENSP00000269122:F216L	F	+	1	0	CLTC	55080509	1.000000	0.71417	0.968000	0.41197	0.597000	0.36814	8.040000	0.89188	2.343000	0.79666	0.533000	0.62120	TTT	CLTC	-	pfam_Clathrin_H-chain_propeller_rpt,superfamily_Clathrin_H-chain_propeller_N,pirsf_Clathrin_heavy_chain	ENSG00000141367		0.393	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLTC	HGNC	protein_coding	OTTHUMT00000258859.1	106	0.00	0	T	NM_004859		57725727	57725727	+1	no_errors	ENST00000269122	ensembl	human	known	69_37n	missense	67	12.99	10	SNP	1.000	C
COL4A3	1285	genome.wustl.edu	37	2	228141148	228141148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GM-A2DN-01A-11D-A17W-09	TCGA-GM-A2DN-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6101e95-5296-4040-af52-0159a21e63b5	70bb3d92-770c-426e-98c5-35362229d54a	g.chr2:228141148G>T	ENST00000396578.3	+	27	2137	c.1975G>T	c.(1975-1977)Gga>Tga	p.G659*	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	659	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGGCCCACCAGGACCTCCAGG	0.527																																						dbGAP											0													62.0	65.0	64.0					2																	228141148		1917	4117	6034	-	-	-	SO:0001587	stop_gained	0				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.1975G>T	2.37:g.228141148G>T	ENSP00000379823:p.Gly659*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G659*	ENST00000396578.3	37	c.1975	CCDS42829.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.854285	0.98525	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	.	.	.	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.8911	0.70609	0.0:0.0:1.0:0.0	.	.	.	.	X	659	.	ENSP00000323334:G659X	G	+	1	0	COL4A3	227849392	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	6.351000	0.73022	2.650000	0.89964	0.655000	0.94253	GGA	COL4A3	-	pfam_Collagen	ENSG00000169031		0.527	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	HGNC	protein_coding	OTTHUMT00000331409.2	51	0.00	0	G	NM_000091		228141148	228141148	+1	no_errors	ENST00000396578	ensembl	human	known	69_37n	nonsense	27	15.62	5	SNP	1.000	T
CRLF1	9244	genome.wustl.edu	37	19	18705148	18705148	+	Missense_Mutation	SNP	A	A	T	rs104894668		TCGA-GM-A2DN-01A-11D-A17W-09	TCGA-GM-A2DN-10C-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6101e95-5296-4040-af52-0159a21e63b5	70bb3d92-770c-426e-98c5-35362229d54a	g.chr19:18705148A>T	ENST00000392386.3	-	7	1314	c.1121T>A	c.(1120-1122)cTc>cAc	p.L374H	CRLF1_ENST00000594325.1_5'UTR	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	374			L -> R (in CISS1). {ECO:0000269|PubMed:12509788}.		negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GTGCTTCTTGAGCCAGCCCAG	0.701																																						dbGAP											0			GRCh37	CM030431	CRLF1	M	rs104894668						30.0	28.0	28.0					19																	18705148		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"""Fibronectin type III domain containing"""	2364	protein-coding gene	gene with protein product	"""cold-induced sweating syndrome"""	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.1121T>A	19.37:g.18705148A>T	ENSP00000376188:p.Leu374His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UHH5	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Growth/epo_recpt_lig-bind,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.L374H	ENST00000392386.3	37	c.1121	CCDS32962.1	19	.	.	.	.	.	.	.	.	.	.	A	17.30	3.354759	0.61293	.	.	ENSG00000006016	ENST00000392386	D	0.83992	-1.79	3.91	3.91	0.45181	.	0.080948	0.48286	D	0.000197	T	0.76807	0.4039	L	0.29908	0.895	0.33145	D	0.544954	D	0.58620	0.983	P	0.46975	0.533	D	0.83650	0.0155	10	0.87932	D	0	-28.4626	10.7407	0.46152	1.0:0.0:0.0:0.0	.	374	O75462	CRLF1_HUMAN	H	374	ENSP00000376188:L374H	ENSP00000376188:L374H	L	-	2	0	CRLF1	18566148	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.962000	0.63687	1.641000	0.50575	0.402000	0.26972	CTC	CRLF1	-	NULL	ENSG00000006016		0.701	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRLF1	HGNC	protein_coding	OTTHUMT00000465129.1	9	0.00	0	A			18705148	18705148	-1	no_errors	ENST00000392386	ensembl	human	known	69_37n	missense	19	24.00	6	SNP	0.991	T
EIF4ENIF1	56478	genome.wustl.edu	37	22	31851272	31851272	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GM-A2DN-01A-11D-A17W-09	TCGA-GM-A2DN-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6101e95-5296-4040-af52-0159a21e63b5	70bb3d92-770c-426e-98c5-35362229d54a	g.chr22:31851272G>A	ENST00000397525.1	-	9	1352	c.1129C>T	c.(1129-1131)Cag>Tag	p.Q377*	EIF4ENIF1_ENST00000397523.1_Nonsense_Mutation_p.Q377*|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000330125.5_Nonsense_Mutation_p.Q377*|EIF4ENIF1_ENST00000382180.2_Nonsense_Mutation_p.Q56*|EIF4ENIF1_ENST00000344710.5_Nonsense_Mutation_p.Q214*	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	377						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCCGAGTTCTGTCCAGGAGAG	0.378																																						dbGAP											0													74.0	73.0	73.0					22																	31851272		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1129C>T	22.37:g.31851272G>A	ENSP00000380659:p.Gln377*	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Nonsense_Mutation	SNP	pfam_eIF4E_transporter	p.Q377*	ENST00000397525.1	37	c.1129	CCDS13898.1	22	.	.	.	.	.	.	.	.	.	.	G	36	5.793988	0.96952	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180;ENST00000420671	.	.	.	5.93	5.93	0.95920	.	0.160029	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-5.6912	17.4871	0.87692	0.0:0.0:1.0:0.0	.	.	.	.	X	214;377;377;377;56;377	.	ENSP00000328103:Q377X	Q	-	1	0	EIF4ENIF1	30181272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.615000	0.90920	2.797000	0.96272	0.655000	0.94253	CAG	EIF4ENIF1	-	pfam_eIF4E_transporter	ENSG00000184708		0.378	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4ENIF1	HGNC	protein_coding	OTTHUMT00000127926.1	104	0.00	0	G	NM_019843		31851272	31851272	-1	no_errors	ENST00000330125	ensembl	human	known	69_37n	nonsense	60	23.08	18	SNP	1.000	A
FBN3	84467	genome.wustl.edu	37	19	8131020	8131020	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DN-01A-11D-A17W-09	TCGA-GM-A2DN-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6101e95-5296-4040-af52-0159a21e63b5	70bb3d92-770c-426e-98c5-35362229d54a	g.chr19:8131020C>T	ENST00000600128.1	-	64	8627	c.8213G>A	c.(8212-8214)cGc>cAc	p.R2738H	FBN3_ENST00000270509.2_Missense_Mutation_p.R2738H|FBN3_ENST00000601739.1_Missense_Mutation_p.R2738H			Q75N90	FBN3_HUMAN	fibrillin 3	2738						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GATGACGTAGCGGATCCGGCC	0.692																																						dbGAP											0													44.0	43.0	44.0					19																	8131020		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8213G>A	19.37:g.8131020C>T	ENSP00000470498:p.Arg2738His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.R2738H	ENST00000600128.1	37	c.8213	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752715	0.31046	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.87809	-2.3	4.66	-2.43	0.06522	.	0.128785	0.53938	N	0.000056	T	0.77130	0.4085	L	0.43923	1.385	0.43540	D	0.995839	B;B	0.16396	0.01;0.017	B;B	0.10450	0.002;0.005	T	0.61222	-0.7106	10	0.52906	T	0.07	.	5.6485	0.17602	0.1227:0.5543:0.0:0.323	.	2738;801	Q75N90;Q6ZNB8	FBN3_HUMAN;.	H	2738;801	ENSP00000270509:R2738H	ENSP00000270509:R2738H	R	-	2	0	FBN3	8037020	0.998000	0.40836	0.000000	0.03702	0.084000	0.17831	1.489000	0.35562	-0.152000	0.11156	0.591000	0.81541	CGC	FBN3	-	pirsf_Fibrillin	ENSG00000142449		0.692	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	19	0.00	0	C	NM_032447		8131020	8131020	-1	no_errors	ENST00000270509	ensembl	human	known	69_37n	missense	16	23.81	5	SNP	1.000	T
GATA3	2625	genome.wustl.edu	37	10	8111433	8111434	+	Splice_Site	DEL	CA	CA	-	rs111853237		TCGA-GM-A2DN-01A-11D-A17W-09	TCGA-GM-A2DN-10C-01D-A17W-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6101e95-5296-4040-af52-0159a21e63b5	70bb3d92-770c-426e-98c5-35362229d54a	g.chr10:8111433_8111434delCA	ENST00000346208.3	+	5	1376		c.e5-1		GATA3_ENST00000461472.1_Splice_Site|GATA3_ENST00000379328.3_Splice_Site			P23771	GATA3_HUMAN	GATA binding protein 3						anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.?(7)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCCCCACTCTCAGTCTGCAGCC	0.48			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	7	Unknown(7)	breast(7)																																								-	-	-	SO:0001630	splice_region_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.922-1CA>-	10.37:g.8111433_8111434delCA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWG7|Q5VWG8|Q96J16	Splice_Site	DEL	-	e4-2	ENST00000346208.3	37	c.925-3_925-2	CCDS7083.1	10																																																																																			GATA3	-	-	ENSG00000107485		0.480	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	57	0	0	CA	NM_001002295	Intron	8111433	8111434	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	splice_site_del	58	14.29	10	DEL	1.000:1.000	-
GUCY1A3	2982	genome.wustl.edu	37	4	156629403	156629403	+	Silent	SNP	A	A	G			TCGA-GM-A2DN-01A-11D-A17W-09	TCGA-GM-A2DN-10C-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6101e95-5296-4040-af52-0159a21e63b5	70bb3d92-770c-426e-98c5-35362229d54a	g.chr4:156629403A>G	ENST00000296518.7	+	5	542	c.333A>G	c.(331-333)agA>agG	p.R111R	GUCY1A3_ENST00000511507.1_Silent_p.R111R|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000455639.2_Silent_p.R111R|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000513574.1_Silent_p.R111R|GUCY1A3_ENST00000506455.1_Silent_p.R111R|GUCY1A3_ENST00000511108.1_Silent_p.R111R			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	111					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTTTGGAAAGAGAAGACTTTG	0.279																																						dbGAP											0													41.0	48.0	46.0					4																	156629403		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.333A>G	4.37:g.156629403A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DP19|D6RDW3|O43843|Q8TAH3	Silent	SNP	pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R111	ENST00000296518.7	37	c.333	CCDS34085.1	4																																																																																			GUCY1A3	-	pfam_Heme_NO-bd,superfamily_NO_sig/Golgi_transp_ligand-bd	ENSG00000164116		0.279	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GUCY1A3	HGNC	protein_coding	OTTHUMT00000365786.2	38	0.00	0	A			156629403	156629403	+1	no_errors	ENST00000296518	ensembl	human	known	69_37n	silent	28	17.65	6	SNP	1.000	G
HCN4	10021	genome.wustl.edu	37	15	73616120	73616120	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DN-01A-11D-A17W-09	TCGA-GM-A2DN-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6101e95-5296-4040-af52-0159a21e63b5	70bb3d92-770c-426e-98c5-35362229d54a	g.chr15:73616120C>T	ENST00000261917.3	-	8	3307	c.2314G>A	c.(2314-2316)Gtc>Atc	p.V772I		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	772					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTCCAGATGACGGGCGTGGGG	0.662																																						dbGAP											0													30.0	36.0	34.0					15																	73616120		2197	4294	6491	-	-	-	SO:0001583	missense	0			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2314G>A	15.37:g.73616120C>T	ENSP00000261917:p.Val772Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UMQ7	Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom	p.V772I	ENST00000261917.3	37	c.2314	CCDS10248.1	15	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711132	0.30322	.	.	ENSG00000138622	ENST00000261917	T	0.80653	-1.4	3.45	2.49	0.30216	.	.	.	.	.	T	0.70159	0.3192	L	0.35723	1.085	0.37769	D	0.92659	B	0.24533	0.105	B	0.15484	0.013	T	0.65352	-0.6189	9	0.32370	T	0.25	.	12.3259	0.55011	0.0:0.8279:0.1721:0.0	.	772	Q9Y3Q4	HCN4_HUMAN	I	772	ENSP00000261917:V772I	ENSP00000261917:V772I	V	-	1	0	HCN4	71403173	0.961000	0.32948	0.461000	0.27105	0.623000	0.37688	2.189000	0.42621	0.608000	0.30000	0.305000	0.20034	GTC	HCN4	-	NULL	ENSG00000138622		0.662	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN4	HGNC	protein_coding	OTTHUMT00000268900.2	42	0.00	0	C	NM_005477		73616120	73616120	-1	no_errors	ENST00000261917	ensembl	human	known	69_37n	missense	35	14.63	6	SNP	0.966	T
HMGCLL1	54511	genome.wustl.edu	37	6	55441929	55441929	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DN-01A-11D-A17W-09	TCGA-GM-A2DN-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6101e95-5296-4040-af52-0159a21e63b5	70bb3d92-770c-426e-98c5-35362229d54a	g.chr6:55441929C>T	ENST00000398661.2	-	2	276	c.145G>A	c.(145-147)Gat>Aat	p.D49N	HMGCLL1_ENST00000274901.4_Intron|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000358072.5_Intron|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000428842.1_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	49					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			ccagagacatcgggctgaaag	0.458																																					Ovarian(35;840 893 7837 15538 42887)	dbGAP											0													45.0	48.0	47.0					6																	55441929		1920	4141	6061	-	-	-	SO:0001583	missense	0			AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.145G>A	6.37:g.55441929C>T	ENSP00000381654:p.Asp49Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	pfam_PYR_CT,pfscan_PYR_CT	p.D49N	ENST00000398661.2	37	c.145	CCDS43475.1	6	.	.	.	.	.	.	.	.	.	.	C	0.036	-1.304494	0.01353	.	.	ENSG00000146151	ENST00000398661	D	0.97976	-4.64	3.03	-2.02	0.07388	.	.	.	.	.	T	0.81489	0.4833	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.77632	-0.2515	9	0.17369	T	0.5	.	3.9212	0.09244	0.397:0.2168:0.3862:0.0	.	49	Q8TB92	HMGC2_HUMAN	N	49	ENSP00000381654:D49N	ENSP00000381654:D49N	D	-	1	0	HMGCLL1	55549888	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.339000	0.07832	-0.446000	0.07149	-0.256000	0.11100	GAT	HMGCLL1	-	NULL	ENSG00000146151		0.458	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	HMGCLL1	HGNC	protein_coding	OTTHUMT00000360290.1	41	0.00	0	C	XM_166383		55441929	55441929	-1	no_errors	ENST00000398661	ensembl	human	known	69_37n	missense	24	17.24	5	SNP	0.000	T
KIF16B	55614	genome.wustl.edu	37	20	16410515	16410515	+	Missense_Mutation	SNP	T	T	G			TCGA-GM-A2DN-01A-11D-A17W-09	TCGA-GM-A2DN-10C-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6101e95-5296-4040-af52-0159a21e63b5	70bb3d92-770c-426e-98c5-35362229d54a	g.chr20:16410515T>G	ENST00000354981.2	-	13	1572	c.1415A>C	c.(1414-1416)cAt>cCt	p.H472P	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.H472P|KIF16B_ENST00000408042.1_Missense_Mutation_p.H472P	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	472					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TACCTTTAAATGATATAAGAT	0.353																																						dbGAP											0													65.0	63.0	64.0					20																	16410515		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1415A>C	20.37:g.16410515T>G	ENSP00000347076:p.His472Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.H472P	ENST00000354981.2	37	c.1415	CCDS13122.1	20	.	.	.	.	.	.	.	.	.	.	T	20.1	3.937137	0.73557	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.70986	-0.53;-0.53;-0.53	6.17	6.17	0.99709	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.84781	0.5548	M	0.77313	2.365	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.998;0.998;0.998;0.996	D	0.86372	0.1724	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	472;472;472;472	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	P	472	ENSP00000347076:H472P;ENSP00000347995:H472P;ENSP00000384164:H472P	ENSP00000347076:H472P	H	-	2	0	KIF16B	16358515	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	6.281000	0.72632	2.371000	0.80710	0.533000	0.62120	CAT	KIF16B	-	superfamily_SMAD_FHA_domain	ENSG00000089177		0.353	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2	74	0.00	0	T	NM_017683		16410515	16410515	-1	no_errors	ENST00000408042	ensembl	human	known	69_37n	missense	53	11.67	7	SNP	1.000	G
MID1	4281	genome.wustl.edu	37	X	10535215	10535215	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DN-01A-11D-A17W-09	TCGA-GM-A2DN-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6101e95-5296-4040-af52-0159a21e63b5	70bb3d92-770c-426e-98c5-35362229d54a	g.chrX:10535215C>T	ENST00000317552.4	-	2	773	c.373G>A	c.(373-375)Gat>Aat	p.D125N	MID1_ENST00000380782.2_Missense_Mutation_p.D125N|MID1_ENST00000380785.1_Missense_Mutation_p.D125N|MID1_ENST00000380787.1_Missense_Mutation_p.D125N|MID1_ENST00000380779.1_Missense_Mutation_p.D125N|MID1_ENST00000380780.1_Missense_Mutation_p.D125N|MID1_ENST00000453318.2_Missense_Mutation_p.D125N	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	125					microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGGGCAGGATCCTGGTCACAA	0.587																																						dbGAP											0													85.0	65.0	72.0					X																	10535215		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.373G>A	X.37:g.10535215C>T	ENSP00000312678:p.Asp125Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.D125N	ENST00000317552.4	37	c.373	CCDS14138.1	X	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971428	0.74246	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894;ENST00000423614	D;D;D;D;D;D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66	5.64	5.64	0.86602	Zinc finger, B-box (1);	0.131595	0.64402	D	0.000002	D	0.90563	0.7042	L	0.48362	1.52	0.80722	D	1	P;P;B;B;B;B	0.45715	0.865;0.57;0.288;0.148;0.027;0.027	P;B;B;B;B;B	0.47470	0.548;0.25;0.278;0.188;0.092;0.066	D	0.89675	0.3886	10	0.37606	T	0.19	.	18.7983	0.92005	0.0:1.0:0.0:0.0	.	125;125;125;125;125;125	C9JZJ7;B7Z5K6;C9J453;O15344-2;A8K5A0;O15344	.;.;.;.;.;TRI18_HUMAN	N	125;125;125;125;125;125;125;113;125;125	ENSP00000414521:D125N;ENSP00000312678:D125N;ENSP00000370162:D125N;ENSP00000370156:D125N;ENSP00000370164:D125N;ENSP00000370157:D125N;ENSP00000370159:D125N;ENSP00000391154:D125N;ENSP00000387771:D125N	ENSP00000312678:D125N	D	-	1	0	MID1	10495215	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.663000	0.83820	2.386000	0.81285	0.600000	0.82982	GAT	MID1	-	smart_Znf_B-box	ENSG00000101871		0.587	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MID1	HGNC	protein_coding	OTTHUMT00000055738.1	54	0.00	0	C			10535215	10535215	-1	no_errors	ENST00000317552	ensembl	human	known	69_37n	missense	47	14.55	8	SNP	1.000	T
MUC5B	727897	genome.wustl.edu	37	11	1266862	1266862	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DN-01A-11D-A17W-09	TCGA-GM-A2DN-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6101e95-5296-4040-af52-0159a21e63b5	70bb3d92-770c-426e-98c5-35362229d54a	g.chr11:1266862C>T	ENST00000529681.1	+	31	8810	c.8752C>T	c.(8752-8754)Cgt>Tgt	p.R2918C	MUC5B_ENST00000447027.1_Missense_Mutation_p.R2921C|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2918	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTCGAGTGCCGTGCCCAGGC	0.692																																						dbGAP											0													7.0	9.0	8.0					11																	1266862		1699	3923	5622	-	-	-	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.8752C>T	11.37:g.1266862C>T	ENSP00000436812:p.Arg2918Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.R2921C	ENST00000529681.1	37	c.8761	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	-	8.412	0.844372	0.16963	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.22134	1.97;1.97	4.07	-2.38	0.06622	.	.	.	.	.	T	0.51652	0.1687	H	0.94620	3.56	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	T	0.43327	-0.9398	9	0.87932	D	0	.	9.2894	0.37778	0.3646:0.2791:0.3564:0.0	.	3501;2921	A7Y9J9;E9PBJ0	.;.	C	2918;2921;2890;2878	ENSP00000436812:R2918C;ENSP00000415793:R2921C	ENSP00000343037:R2890C	R	+	1	0	MUC5B	1223438	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	-0.420000	0.07062	-0.752000	0.04728	0.479000	0.44913	CGT	MUC5B	-	NULL	ENSG00000117983		0.692	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	44	0.00	0	C	XM_001126093		1266862	1266862	+1	no_errors	ENST00000447027	ensembl	human	known	69_37n	missense	17	22.73	5	SNP	0.001	T
NCOR1	9611	genome.wustl.edu	37	17	15989687	15989687	+	Missense_Mutation	SNP	G	G	T			TCGA-GM-A2DN-01A-11D-A17W-09	TCGA-GM-A2DN-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6101e95-5296-4040-af52-0159a21e63b5	70bb3d92-770c-426e-98c5-35362229d54a	g.chr17:15989687G>T	ENST00000268712.3	-	23	3343	c.3086C>A	c.(3085-3087)cCa>cAa	p.P1029Q	NCOR1_ENST00000395851.1_Missense_Mutation_p.P1045Q	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1029	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGGCCTGGTTGGTCGAGTTGT	0.468																																						dbGAP											0													108.0	108.0	108.0					17																	15989687		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3086C>A	17.37:g.15989687G>T	ENSP00000268712:p.Pro1029Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.P1029Q	ENST00000268712.3	37	c.3086	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804315	0.70682	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849	D;D	0.82711	-1.64;-1.64	5.81	5.81	0.92471	.	0.095057	0.85682	D	0.000000	D	0.88503	0.6454	L	0.46157	1.445	0.80722	D	1	D;D;D	0.76494	0.999;0.991;0.995	D;P;D	0.66497	0.942;0.881;0.944	D	0.88746	0.3247	10	0.72032	D	0.01	-8.7426	19.1272	0.93390	0.0:0.0:1.0:0.0	.	936;1029;1045	Q7Z516;O75376;O75376-2	.;NCOR1_HUMAN;.	Q	1029;1045;936	ENSP00000268712:P1029Q;ENSP00000379192:P1045Q	ENSP00000268712:P1029Q	P	-	2	0	NCOR1	15930412	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.646000	0.83445	2.769000	0.95229	0.580000	0.79431	CCA	NCOR1	-	NULL	ENSG00000141027		0.468	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	151	0.00	0	G	NM_006311		15989687	15989687	-1	no_errors	ENST00000268712	ensembl	human	known	69_37n	missense	102	13.56	16	SNP	1.000	T
SEC1P	653677	genome.wustl.edu	37	19	49183705	49183705	+	RNA	SNP	G	G	A	rs3826846	byFrequency	TCGA-GM-A2DN-01A-11D-A17W-09	TCGA-GM-A2DN-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6101e95-5296-4040-af52-0159a21e63b5	70bb3d92-770c-426e-98c5-35362229d54a	g.chr19:49183705G>A	ENST00000430145.2	+	0	792					NR_004401.2				secretory blood group 1, pseudogene																		CGCTGTGTCCGCCTCACGGGC	0.667													G|||	2531	0.505391	0.2769	0.4597	5008	,	,		16690	0.5506		0.6223	False		,,,				2504	0.68					dbGAP											0																																										-	-	-			0					19q13.33	2012-07-04			ENSG00000232871	ENSG00000232871			44149	pseudogene	pseudogene							Standard	NR_004401		Approved		uc010xzv.2		OTTHUMG00000154617		19.37:g.49183705G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000430145.2	37	NULL		19																																																																																			SEC1P	-	-	ENSG00000232871		0.667	SEC1P-002	KNOWN	basic	processed_transcript	SEC1P	HGNC	pseudogene	OTTHUMT00000336334.1	9	0.00	0	G	NR_004401		49183705	49183705	+1	no_errors	ENST00000430145	ensembl	human	known	69_37n	rna	8	42.86	6	SNP	0.109	A
TET3	200424	genome.wustl.edu	37	2	74273626	74273626	+	Silent	SNP	G	G	T			TCGA-GM-A2DN-01A-11D-A17W-09	TCGA-GM-A2DN-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6101e95-5296-4040-af52-0159a21e63b5	70bb3d92-770c-426e-98c5-35362229d54a	g.chr2:74273626G>T	ENST00000409262.3	+	1	177	c.177G>T	c.(175-177)ctG>ctT	p.L59L		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	59					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGCTCGCCTGGAAGATGCCC	0.627																																						dbGAP											0													43.0	49.0	47.0					2																	74273626		1946	4154	6100	-	-	-	SO:0001819	synonymous_variant	0				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.177G>T	2.37:g.74273626G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	NULL	p.L59	ENST00000409262.3	37	c.177	CCDS46339.1	2																																																																																			TET3	-	NULL	ENSG00000187605		0.627	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	49	0.00	0	G			74273626	74273626	+1	no_errors	ENST00000409262	ensembl	human	known	69_37n	silent	30	11.76	4	SNP	1.000	T
TNS3	64759	genome.wustl.edu	37	7	47409188	47409188	+	Missense_Mutation	SNP	C	C	A			TCGA-GM-A2DN-01A-11D-A17W-09	TCGA-GM-A2DN-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6101e95-5296-4040-af52-0159a21e63b5	70bb3d92-770c-426e-98c5-35362229d54a	g.chr7:47409188C>A	ENST00000398879.1	-	17	1421	c.1055G>T	c.(1054-1056)aGc>aTc	p.S352I	TNS3_ENST00000355730.3_Intron|TNS3_ENST00000311160.9_Missense_Mutation_p.S352I			Q68CZ2	TENS3_HUMAN	tensin 3	352					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CGCGTAAAGGCTGCCATCGAC	0.607																																						dbGAP											0													35.0	37.0	36.0					7																	47409188		2052	4205	6257	-	-	-	SO:0001583	missense	0			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.1055G>T	7.37:g.47409188C>A	ENSP00000381854:p.Ser352Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.S352I	ENST00000398879.1	37	c.1055	CCDS5506.2	7	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883504	0.72410	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000457718;ENST00000450444	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.18	5.18	0.71444	.	0.340768	0.30686	N	0.009091	T	0.49133	0.1539	M	0.82323	2.585	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.55842	-0.8077	10	0.87932	D	0	-29.44	16.1625	0.81731	0.0:1.0:0.0:0.0	.	352	Q68CZ2	TENS3_HUMAN	I	352;462;352;455;441	ENSP00000312143:S352I;ENSP00000381854:S352I;ENSP00000414358:S455I;ENSP00000396914:S441I	ENSP00000312143:S352I	S	-	2	0	TNS3	47375713	1.000000	0.71417	0.968000	0.41197	0.967000	0.64934	2.589000	0.46145	2.405000	0.81733	0.462000	0.41574	AGC	TNS3	-	NULL	ENSG00000136205		0.607	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	43	0.00	0	C	NM_022748		47409188	47409188	-1	no_errors	ENST00000311160	ensembl	human	known	69_37n	missense	16	38.46	10	SNP	0.998	A
TULP2	7288	genome.wustl.edu	37	19	49398637	49398637	+	Missense_Mutation	SNP	G	G	A	rs555642218		TCGA-GM-A2DN-01A-11D-A17W-09	TCGA-GM-A2DN-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6101e95-5296-4040-af52-0159a21e63b5	70bb3d92-770c-426e-98c5-35362229d54a	g.chr19:49398637G>A	ENST00000221399.3	-	5	479	c.335C>T	c.(334-336)cCg>cTg	p.P112L		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	112					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		TTCTGTCCGCGGTGTCGGGAG	0.617																																						dbGAP											0													75.0	85.0	81.0					19																	49398637		2203	4299	6502	-	-	-	SO:0001583	missense	0			U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"""cancer/testis antigen 65"""	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.335C>T	19.37:g.49398637G>A	ENSP00000221399:p.Pro112Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TC50	Missense_Mutation	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N	p.P112L	ENST00000221399.3	37	c.335	CCDS12739.1	19	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987215	0.35036	.	.	ENSG00000104804	ENST00000221399;ENST00000522945;ENST00000520977;ENST00000522229	D;T;T	0.84589	-1.87;1.21;0.61	4.81	0.28	0.15682	.	4.199370	0.00604	N	0.000380	T	0.70002	0.3174	N	0.19112	0.55	0.09310	N	1	P	0.49961	0.93	B	0.31191	0.125	T	0.66308	-0.5956	10	0.66056	D	0.02	1.6616	4.4666	0.11692	0.2681:0.1743:0.5576:0.0	.	112	O00295	TULP2_HUMAN	L	112;109;93;68	ENSP00000221399:P112L;ENSP00000430040:P109L;ENSP00000428535:P93L	ENSP00000221399:P112L	P	-	2	0	TULP2	54090449	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.399000	0.20916	0.058000	0.16222	-0.275000	0.10095	CCG	TULP2	-	NULL	ENSG00000104804		0.617	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP2	HGNC	protein_coding	OTTHUMT00000378633.1	56	0.00	0	G	NM_003323		49398637	49398637	-1	no_errors	ENST00000221399	ensembl	human	known	69_37n	missense	63	17.11	13	SNP	0.000	A
ZNF479	90827	genome.wustl.edu	37	7	57188319	57188319	+	Missense_Mutation	SNP	G	G	T			TCGA-GM-A2DN-01A-11D-A17W-09	TCGA-GM-A2DN-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6101e95-5296-4040-af52-0159a21e63b5	70bb3d92-770c-426e-98c5-35362229d54a	g.chr7:57188319G>T	ENST00000331162.4	-	5	1073	c.803C>A	c.(802-804)cCc>cAc	p.P268H		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	268					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ACACGTGTAGGGTTTCTCTCC	0.443																																						dbGAP											0													43.0	45.0	44.0					7																	57188319		2127	4246	6373	-	-	-	SO:0001583	missense	0			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.803C>A	7.37:g.57188319G>T	ENSP00000333776:p.Pro268His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P268H	ENST00000331162.4	37	c.803	CCDS43590.1	7	.	.	.	.	.	.	.	.	.	.	g	12.12	1.843939	0.32606	.	.	ENSG00000185177	ENST00000331162	T	0.17528	2.27	1.01	-1.94	0.07571	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32346	0.0826	M	0.87900	2.915	0.23030	N	0.998408	D	0.62365	0.991	P	0.56434	0.798	T	0.15093	-1.0449	9	0.66056	D	0.02	.	3.6167	0.08079	0.2165:0.2627:0.5207:0.0	.	268	Q96JC4	ZN479_HUMAN	H	268	ENSP00000333776:P268H	ENSP00000333776:P268H	P	-	2	0	ZNF479	57192261	0.998000	0.40836	0.005000	0.12908	0.005000	0.04900	3.695000	0.54749	-0.494000	0.06669	-0.488000	0.04728	CCC	ZNF479	-	pfscan_Znf_C2H2	ENSG00000185177		0.443	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	HGNC	protein_coding	OTTHUMT00000345302.1	84	0.00	0	G	XM_291202		57188319	57188319	-1	no_errors	ENST00000331162	ensembl	human	known	69_37n	missense	30	14.29	5	SNP	0.660	T
