#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157|rs71318762	byFrequency	TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1				BMS1 pseudogene 20																		AGCTGCCACATAAGTTGTCCT	0.299													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		9186	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663086T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663086T>G								NR_027293.1						0	525	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.299	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	58	0	0	0	0.004672	0	3	58				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		4	42	0	0	0	0.009096	0	4	42				
SF3B1	23451	broad.mit.edu	37	2	198267739	198267739	+	Silent	SNP	C	C	T	rs566175207	byFrequency	TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:198267739C>T	ENST00000335508.6	-	13	1831	c.1740G>A	c.(1738-1740)ccG>ccA	p.P580P	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	580					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CAATCAATAGCGGTTCAATGA	0.333			Mis		myelodysplastic syndrome								C|||	2	0.000399361	0.0	0.0	5008	,	,		18377	0.0		0.0	False		,,,				2504	0.002					ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1738-1740)ccG>ccA		splicing factor 3b, subunit 1, 155kDa							58.0	56.0	57.0					2																	198267739		2203	4299	6502	SO:0001819	synonymous_variant	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267739C>T	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1740G>A	2.37:g.198267739C>T							p.P580P	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		13	1831	-			580					E9PCH3	Silent	SNP	ENST00000335508.6	37	c.1740G>A	CCDS33356.1																																																																																				0.333	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			30	39	0	0	0	0.013726	0	30	39				
IRX6	79190	broad.mit.edu	37	16	55363122	55363122	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr16:55363122G>T	ENST00000290552.7	+	5	2564	c.1232G>T	c.(1231-1233)gGa>gTa	p.G411V	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	411					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						AAAGCCTTTGGAAACCCCAAG	0.622																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(1231-1233)gGa>gTa		iroquois homeobox 6							60.0	66.0	64.0					16																	55363122		2198	4300	6498	SO:0001583	missense	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55363122G>T	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.1232G>T	16.37:g.55363122G>T	ENSP00000290552:p.Gly411Val					RP11-26L20.3_ENST00000558730.2_RNA	p.G411V	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			5	2564	+			411					B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	c.1232G>T	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.677370	0.29783	.	.	ENSG00000159387	ENST00000290552	D	0.89939	-2.59	5.24	4.28	0.50868	.	0.922395	0.09263	N	0.826249	T	0.80093	0.4560	N	0.17082	0.46	0.52501	D	0.999952	B	0.10296	0.003	B	0.12156	0.007	T	0.70590	-0.4830	10	0.38643	T	0.18	-6.879	6.7949	0.23719	0.0893:0.0:0.7332:0.1774	.	411	P78412	IRX6_HUMAN	V	411	ENSP00000290552:G411V	ENSP00000290552:G411V	G	+	2	0	IRX6	53920623	0.974000	0.33945	0.995000	0.50966	0.483000	0.33249	2.940000	0.49003	1.176000	0.42840	0.561000	0.74099	GGA		0.622	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		49	80	1	0	6.03219e-31	0.014410	2.49107e-30	49	80				
BBX	56987	broad.mit.edu	37	3	107491592	107491592	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:107491592A>G	ENST00000325805.8	+	11	1311	c.1024A>G	c.(1024-1026)Atg>Gtg	p.M342V	BBX_ENST00000402543.1_Missense_Mutation_p.M342V|BBX_ENST00000406780.1_Missense_Mutation_p.M342V|BBX_ENST00000416476.2_Intron|BBX_ENST00000415149.2_Missense_Mutation_p.M342V			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	342					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AGAAATTAAAATGGAGAAAAC	0.323																																						ENST00000415149.2																			0				breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49						c.(1024-1026)Atg>Gtg		bobby sox homolog (Drosophila)							59.0	70.0	66.0					3																	107491592		2184	4291	6475	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107491592A>G	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1024A>G	3.37:g.107491592A>G	ENSP00000319974:p.Met342Val					BBX_ENST00000325805.8_Missense_Mutation_p.M342V|BBX_ENST00000402543.1_Missense_Mutation_p.M342V|BBX_ENST00000416476.2_Intron|BBX_ENST00000406780.1_Missense_Mutation_p.M342V	p.M342V	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		11	1351	+			342					A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.1024A>G	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	A	0.091	-1.166944	0.01660	.	.	ENSG00000114439	ENST00000415149;ENST00000325767;ENST00000402543;ENST00000325805;ENST00000402163;ENST00000406780	D;D;D;D;D	0.98120	-4.31;-4.3;-4.32;-4.73;-4.31	6.16	1.57	0.23409	.	0.769288	0.13349	N	0.394580	D	0.89876	0.6842	N	0.05124	-0.11	0.19300	N	0.999977	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.79393	-0.1822	10	0.02654	T	1	0.235	7.4231	0.27083	0.5577:0.0:0.4423:0.0	.	342;342;342	C9JA69;Q8WY36;Q8WY36-2	.;BBX_HUMAN;.	V	342;193;342;342;342;342	ENSP00000408358:M342V;ENSP00000385317:M342V;ENSP00000319974:M342V;ENSP00000385518:M342V;ENSP00000385530:M342V	ENSP00000319742:M193V	M	+	1	0	BBX	108974282	0.998000	0.40836	0.979000	0.43373	0.811000	0.45836	0.379000	0.20585	-0.028000	0.13850	0.528000	0.53228	ATG		0.323	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		82	101	0	0	0	0.014410	0	82	101				
TRIML1	339976	broad.mit.edu	37	4	189061023	189061023	+	Missense_Mutation	SNP	C	C	T	rs377254358		TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr4:189061023C>T	ENST00000332517.3	+	1	451	c.311C>T	c.(310-312)gCg>gTg	p.A104V	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	104					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ACTGCCAAGGCGCTCTCCGAT	0.642																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(310-312)gCg>gTg		tripartite motif family-like 1		C	VAL/ALA	0,4406		0,0,2203	42.0	40.0	41.0		311	-0.4	0.0	4		41	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRIML1	NM_178556.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	104/469	189061023	1,13005	2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189061023C>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.311C>T	4.37:g.189061023C>T	ENSP00000327738:p.Ala104Val						p.A104V	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	1	451	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	104					Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.311C>T	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	C	8.075	0.771162	0.16051	0.0	1.16E-4	ENSG00000184108	ENST00000332517	T	0.60797	0.16	5.06	-0.409	0.12378	.	1.154560	0.06420	N	0.722216	T	0.27524	0.0676	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.14392	-1.0474	10	0.44086	T	0.13	-3.197	3.6006	0.08023	0.1641:0.3183:0.0:0.5176	.	104	Q8N9V2	TRIML_HUMAN	V	104	ENSP00000327738:A104V	ENSP00000327738:A104V	A	+	2	0	TRIML1	189298017	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.782000	0.26788	-0.130000	0.11599	0.561000	0.74099	GCG		0.642	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		18	33	0	0	0	0.006122	0	18	33				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			6	63	0	0	0	0.001168	0	6	63				
WAC	51322	broad.mit.edu	37	10	28822945	28822945	+	Silent	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr10:28822945G>A	ENST00000354911.4	+	2	221	c.60G>A	c.(58-60)ggG>ggA	p.G20G	WAC-AS1_ENST00000527986.1_RNA|WAC_ENST00000375664.4_5'UTR|WAC_ENST00000532233.1_3'UTR|WAC-AS1_ENST00000528337.1_RNA|WAC_ENST00000428935.1_5'UTR|WAC_ENST00000375646.1_5'UTR|WAC_ENST00000347934.4_Silent_p.G20G	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	20					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						ACCGGAGGGGGGACTCGCAGC	0.677																																						ENST00000354911.4																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						c.(58-60)ggG>ggA		WW domain containing adaptor with coiled-coil							25.0	31.0	29.0					10																	28822945		2202	4299	6501	SO:0001819	synonymous_variant	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28822945G>A	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.60G>A	10.37:g.28822945G>A						WAC_ENST00000532233.1_3'UTR|WAC_ENST00000428935.1_5'UTR|WAC_ENST00000375646.1_5'UTR|WAC_ENST00000375664.3_5'UTR|WAC_ENST00000347934.4_Silent_p.G20G	p.G20G	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN			2	221	+			20					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Silent	SNP	ENST00000354911.4	37	c.60G>A	CCDS7159.1																																																																																				0.677	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264		4	89	0	0	0	0.000602	0	4	89				
KLK5	25818	broad.mit.edu	37	19	51453323	51453323	+	Silent	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:51453323G>A	ENST00000336334.3	-	3	475	c.123C>T	c.(121-123)acC>acT	p.T41T	KLK5_ENST00000593428.1_Silent_p.T41T|CTB-147C22.8_ENST00000601506.1_RNA|CTB-147C22.8_ENST00000594939.1_RNA|KLK5_ENST00000391809.2_Silent_p.T41T	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	41				Missing (in Ref. 3; AAG33358). {ECO:0000305}.	epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		CAGAGGGCACGGTGTTAGAGG	0.622																																						ENST00000336334.3																			0				NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15						c.(121-123)acC>acT		kallikrein-related peptidase 5							44.0	42.0	43.0					19																	51453323		2203	4300	6503	SO:0001819	synonymous_variant	25818				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51453323G>A	AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"""Kallikreins"""	6366	protein-coding gene	gene with protein product		605643	"""kallikrein 5"""			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.123C>T	19.37:g.51453323G>A						KLK5_ENST00000593428.1_Silent_p.T41T|KLK5_ENST00000391809.2_Silent_p.T41T	p.T41T	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	3	475	-		all_neural(266;0.026)	41	Missing (in Ref. 3; AAG33358).				Q53ZR3|Q9HBG8	Silent	SNP	ENST00000336334.3	37	c.123C>T	CCDS12810.1																																																																																				0.622	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1	NM_012427		17	20	0	0	0	0.010504	0	17	20				
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158|rs71318762	byFrequency	TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1				BMS1 pseudogene 20																		GCTGCCACATAAGTTGTCCTT	0.303													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		8984	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663087A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663087A>G								NR_027293.1						0	526	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.303	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	59	0	0	0	0.009096	0	3	59				
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G	rs369741558		TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1				BMS1 pseudogene 20																		CAGATCAAGAAAGCACTCTGA	0.498																																						ENST00000426066.1																			0																																																			0							g.chr22:22664186A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664186A>G								NR_027293.1						0	709	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	68	0	0	0	0.001168	0	3	68				
WNT7A	7476	broad.mit.edu	37	3	13896275	13896275	+	Silent	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:13896275G>A	ENST00000285018.4	-	3	628	c.324C>T	c.(322-324)taC>taT	p.Y108Y		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	108					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CAATGATGGCGTAGGTGAACG	0.627																																						ENST00000285018.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(322-324)taC>taT		wingless-type MMTV integration site family, member 7A							69.0	67.0	67.0					3																	13896275		2203	4300	6503	SO:0001819	synonymous_variant	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13896275G>A	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.324C>T	3.37:g.13896275G>A							p.Y108Y	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN			3	628	-			108					Q96H90|Q9Y560	Silent	SNP	ENST00000285018.4	37	c.324C>T	CCDS2616.1																																																																																				0.627	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		57	62	0	0	0	0.014410	0	57	62				
HTRA1	5654	broad.mit.edu	37	10	124271537	124271537	+	Silent	SNP	A	A	G			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr10:124271537A>G	ENST00000368984.3	+	8	1358	c.1230A>G	c.(1228-1230)tcA>tcG	p.S410S		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	410	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ACGTGATCTCAGGAGCGTATA	0.493																																						ENST00000368984.3																			0				endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17						c.(1228-1230)tcA>tcG		HtrA serine peptidase 1							93.0	94.0	94.0					10																	124271537		2203	4300	6503	SO:0001819	synonymous_variant	5654				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr10:124271537A>G	AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"""Serine peptidases / Serine peptidases"""	9476	protein-coding gene	gene with protein product		602194	"""protease, serine, 11 (IGF binding)"""	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.1230A>G	10.37:g.124271537A>G							p.S410S	NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN			8	1358	+		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)	410			PDZ.		D3DRE4|Q9UNS5	Silent	SNP	ENST00000368984.3	37	c.1230A>G	CCDS7630.1																																																																																				0.493	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128327.1	NM_002775		3	88	0	0	0	0.004672	0	3	88				
SYT17	51760	broad.mit.edu	37	16	19195180	19195180	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr16:19195180G>A	ENST00000355377.2	+	5	1060	c.662G>A	c.(661-663)cGc>cAc	p.R221H	SYT17_ENST00000562034.1_Missense_Mutation_p.R160H|SYT17_ENST00000568115.1_Missense_Mutation_p.R160H|SYT17_ENST00000562711.2_Missense_Mutation_p.R217H	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	221	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GATGGCTCGCGCCAGGACATG	0.612																																						ENST00000562034.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						c.(478-480)cGc>cAc		synaptotagmin XVII							125.0	117.0	120.0					16																	19195180		2197	4300	6497	SO:0001583	missense	51760					membrane|synaptic vesicle	transporter activity	g.chr16:19195180G>A		CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"""Synaptotagmins"""	24119	protein-coding gene	gene with protein product	"""B/K protein"""					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.662G>A	16.37:g.19195180G>A	ENSP00000347538:p.Arg221His					SYT17_ENST00000568115.1_Missense_Mutation_p.R160H|SYT17_ENST00000562711.2_Missense_Mutation_p.R217H|SYT17_ENST00000355377.2_Missense_Mutation_p.R221H	p.R160H			Q9BSW7	SYT17_HUMAN			3	4277	+			221					O43330|Q9NZ18	Missense_Mutation	SNP	ENST00000355377.2	37	c.479G>A	CCDS10575.1	.	.	.	.	.	.	.	.	.	.	g	25.4	4.635711	0.87760	.	.	ENSG00000103528	ENST00000355377	T	0.19669	2.13	5.52	5.52	0.82312	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000010	T	0.47948	0.1473	M	0.72479	2.2	0.80722	D	1	D;D	0.71674	0.994;0.998	D;D	0.69479	0.964;0.964	T	0.46190	-0.9209	10	0.72032	D	0.01	.	19.4403	0.94817	0.0:0.0:1.0:0.0	.	221;160	Q9BSW7;B4DJB2	SYT17_HUMAN;.	H	221	ENSP00000347538:R221H	ENSP00000347538:R221H	R	+	2	0	SYT17	19102681	0.997000	0.39634	0.998000	0.56505	0.257000	0.26127	5.043000	0.64208	2.592000	0.87571	0.457000	0.33378	CGC		0.612	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524		7	221	0	0	0	0.003080	0	7	221				
CPNE3	8895	broad.mit.edu	37	8	87549807	87549807	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr8:87549807C>A	ENST00000521271.1	+	7	638	c.476C>A	c.(475-477)tCa>tAa	p.S159*	CPNE3_ENST00000198765.4_Nonsense_Mutation_p.S159*	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	159	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						TTTGGAAAGTCAGACCCATAC	0.403																																						ENST00000521271.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(475-477)tCa>tAa		copine III							124.0	113.0	117.0					8																	87549807		2203	4300	6503	SO:0001587	stop_gained	8895				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity	g.chr8:87549807C>A	AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.476C>A	8.37:g.87549807C>A	ENSP00000430934:p.Ser159*					CPNE3_ENST00000198765.4_Nonsense_Mutation_p.S159*	p.S159*	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN			7	638	+			159			C2 2.		A8KA47|Q8IYA1	Nonsense_Mutation	SNP	ENST00000521271.1	37	c.476C>A	CCDS6243.1	.	.	.	.	.	.	.	.	.	.	C	38	6.658862	0.97743	.	.	ENSG00000085719	ENST00000198765;ENST00000521271;ENST00000523072	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2591	20.2576	0.98430	0.0:1.0:0.0:0.0	.	.	.	.	X	159	.	ENSP00000198765:S159X	S	+	2	0	CPNE3	87618923	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.783000	0.95769	0.655000	0.94253	TCA		0.403	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1			28	43	1	0	7.01153e-11	0.007291	2.79209e-10	28	43				
KRTAP4-11	653240	broad.mit.edu	37	17	39274206	39274206	+	Missense_Mutation	SNP	C	C	T	rs79388709		TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr17:39274206C>T	ENST00000391413.2	-	1	400	c.362G>A	c.(361-363)aGa>aAa	p.R121K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.R121K(5)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcactggggtctgcagcagct	0.652																																						ENST00000391413.2																			5	Substitution - Missense(5)	p.R121K(5)	lung(2)|prostate(1)|kidney(1)|skin(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(361-363)aGa>aAa		keratin associated protein 4-11							5.0	9.0	8.0					17																	39274206		644	1533	2177	SO:0001583	missense	653240					keratin filament		g.chr17:39274206C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.362G>A	17.37:g.39274206C>T	ENSP00000375232:p.Arg121Lys						p.R121K	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	400	-		Breast(137;0.000496)	121			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.362G>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	4.782	0.145483	0.09134	.	.	ENSG00000212721	ENST00000391413	T	0.01455	4.87	3.34	-4.84	0.03151	.	.	.	.	.	T	0.01905	0.0060	M	0.73962	2.25	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.50276	-0.8847	9	0.11794	T	0.64	.	2.2508	0.04042	0.1417:0.1925:0.1396:0.5262	.	121	Q9BYQ6	KR411_HUMAN	K	121	ENSP00000375232:R121K	ENSP00000375232:R121K	R	-	2	0	KRTAP4-11	36527732	0.000000	0.05858	0.009000	0.14445	0.065000	0.16274	-1.602000	0.02079	-0.525000	0.06391	-1.218000	0.01608	AGA		0.652	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			6	57	0	0	0	0.001984	0	6	57				
AHNAK2	113146	broad.mit.edu	37	14	105421875	105421875	+	Silent	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr14:105421875G>A	ENST00000333244.5	-	5	530	c.411C>T	c.(409-411)ttC>ttT	p.F137F	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	137	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTGCTTGACGAAGATCCCCT	0.582																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(409-411)ttC>ttT		AHNAK nucleoprotein 2							88.0	97.0	94.0					14																	105421875		2107	4226	6333	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105421875G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.411C>T	14.37:g.105421875G>A							p.F137F	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		5	530	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	137			PDZ.		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.411C>T	CCDS45177.1																																																																																				0.582	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		26	73	0	0	0	0.004656	0	26	73				
LCE2B	26239	broad.mit.edu	37	1	152659383	152659383	+	Missense_Mutation	SNP	C	C	T	rs146504201		TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:152659383C>T	ENST00000368780.3	+	2	118	c.64C>T	c.(64-66)Cca>Tca	p.P22S	LCE2B_ENST00000417924.2_Missense_Mutation_p.P22S	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	22	Cys-rich.|Pro-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAAGTGTACCCCAAAATGTCC	0.547																																						ENST00000368780.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11						c.(64-66)Cca>Tca		late cornified envelope 2B							118.0	118.0	118.0					1																	152659383		2203	4300	6503	SO:0001583	missense	26239				keratinization			g.chr1:152659383C>T	BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"""Late cornified envelopes"""	16610	protein-coding gene	gene with protein product		612610	"""small proline rich-like (epidermal differentiation complex) 1B"""	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.64C>T	1.37:g.152659383C>T	ENSP00000357769:p.Pro22Ser					LCE2B_ENST00000417924.2_Missense_Mutation_p.P22S	p.P22S	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	118	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		22			Cys-rich.|Pro-rich.		Q5TA80	Missense_Mutation	SNP	ENST00000368780.3	37	c.64C>T	CCDS1020.1	.	.	.	.	.	.	.	.	.	.	C	3.492	-0.103719	0.06967	.	.	ENSG00000159455	ENST00000417924;ENST00000368780	T;T	0.04970	3.52;3.52	2.46	2.46	0.29980	.	.	.	.	.	T	0.06050	0.0157	M	0.85542	2.76	0.09310	N	1	B	0.27997	0.197	B	0.37888	0.26	T	0.20107	-1.0285	9	0.41790	T	0.15	.	8.4052	0.32610	0.0:1.0:0.0:0.0	.	22	O14633	LCE2B_HUMAN	S	22	ENSP00000414043:P22S;ENSP00000357769:P22S	ENSP00000357769:P22S	P	+	1	0	LCE2B	150926007	0.001000	0.12720	0.100000	0.21137	0.528000	0.34623	0.350000	0.20079	1.360000	0.45960	0.313000	0.20887	CCA		0.547	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034524.1	NM_014357		145	66	0	0	0	0.014410	0	145	66				
UNC5B	219699	broad.mit.edu	37	10	73047379	73047379	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr10:73047379C>T	ENST00000335350.6	+	6	1174	c.758C>T	c.(757-759)gCa>gTa	p.A253V	UNC5B_ENST00000373192.4_Missense_Mutation_p.A253V	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	253	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TCCAGCTGGGCAGAGTGGTCA	0.667																																						ENST00000335350.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(757-759)gCa>gTa		unc-5 homolog B (C. elegans)							56.0	58.0	57.0					10																	73047379		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73047379C>T	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.758C>T	10.37:g.73047379C>T	ENSP00000334329:p.Ala253Val					UNC5B_ENST00000373192.4_Missense_Mutation_p.A253V	p.A253V	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			6	1174	+			253			TSP type-1 1.		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.758C>T	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	c	25.3	4.624259	0.87560	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.18810	2.19;2.19	5.16	5.16	0.70880	.	0.174103	0.51477	D	0.000090	T	0.27967	0.0689	L	0.54323	1.7	0.49582	D	0.999801	B;B	0.24675	0.089;0.109	B;B	0.30105	0.068;0.111	T	0.08411	-1.0723	10	0.87932	D	0	-6.4985	18.7239	0.91705	0.0:1.0:0.0:0.0	.	253;253	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	V	253	ENSP00000334329:A253V;ENSP00000362288:A253V	ENSP00000334329:A253V	A	+	2	0	UNC5B	72717385	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	6.084000	0.71335	2.433000	0.82419	0.537000	0.68136	GCA		0.667	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		42	68	0	0	0	0.013114	0	42	68				
GALNS	2588	broad.mit.edu	37	16	88904133	88904133	+	Missense_Mutation	SNP	C	C	T	rs398123438		TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr16:88904133C>T	ENST00000268695.5	-	5	551	c.463G>A	c.(463-465)Gga>Aga	p.G155R	GALNS_ENST00000542788.1_Missense_Mutation_p.G80R|GALNS_ENST00000565364.1_5'Flank	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	155	Catalytic domain.		G -> E (in MPS4A). {ECO:0000269|PubMed:16287098}.|G -> R (in MPS4A; severe form). {ECO:0000269|PubMed:24726177}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		TCATCAAATCCGTGCTTCAGG	0.572																																					GBM(129;1929 2344 25209 33204)	ENST00000268695.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22	GRCh37	CM970584	GALNS	M		c.(463-465)Gga>Aga		galactosamine (N-acetyl)-6-sulfate sulfatase	Hyaluronidase(DB00070)						102.0	93.0	96.0					16																	88904133		2198	4300	6498	SO:0001583	missense	2588					lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity	g.chr16:88904133C>T	D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.463G>A	16.37:g.88904133C>T	ENSP00000268695:p.Gly155Arg					GALNS_ENST00000542788.1_Missense_Mutation_p.G80R	p.G155R	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0496)	5	551	-			155		G -> E (in MPS4A).|G -> R (in MPS4A; severe form).			Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	c.463G>A	CCDS10970.1	.	.	.	.	.	.	.	.	.	.	c	26.5	4.744701	0.89663	.	.	ENSG00000141012	ENST00000268695;ENST00000542788	D;D	0.99732	-6.57;-6.57	5.18	5.18	0.71444	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	H	0.99286	4.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96179	0.9129	10	0.87932	D	0	.	18.6864	0.91565	0.0:1.0:0.0:0.0	.	155;155	B2R6P1;P34059	.;GALNS_HUMAN	R	155;80	ENSP00000268695:G155R;ENSP00000438197:G80R	ENSP00000268695:G155R	G	-	1	0	GALNS	87431634	1.000000	0.71417	0.994000	0.49952	0.831000	0.47069	7.403000	0.79983	2.415000	0.81967	0.651000	0.88453	GGA		0.572	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			49	64	0	0	0	0.014410	0	49	64				
U2AF1L4	199746	broad.mit.edu	37	19	36234735	36234735	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:36234735G>A	ENST00000412391.2	-	7	566	c.553C>T	c.(553-555)Ctc>Ttc	p.L185F	U2AF1L4_ENST00000292879.5_Silent_p.S126S|U2AF1L4_ENST00000378975.3_Missense_Mutation_p.L146F|AD000671.6_ENST00000589807.1_3'UTR|PSENEN_ENST00000587708.2_5'Flank|IGFLR1_ENST00000344990.3_5'Flank|IGFLR1_ENST00000592537.1_5'Flank|AC002398.9_ENST00000591613.2_5'Flank|U2AF1L4_ENST00000588100.1_5'Flank|PSENEN_ENST00000222266.2_5'Flank|IGFLR1_ENST00000246532.1_5'Flank|IGFLR1_ENST00000588992.1_5'Flank|IGFLR1_ENST00000592889.1_5'Flank|PSENEN_ENST00000591949.1_5'Flank			Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	185					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGCCCATAGAGCTGCCTCTGG	0.572																																						ENST00000412391.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8						c.(553-555)Ctc>Ttc		U2 small nuclear RNA auxiliary factor 1-like 4							40.0	42.0	41.0					19																	36234735		2203	4300	6503	SO:0001583	missense	199746				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding	g.chr19:36234735G>A	BC021186, AY569437	CCDS12473.1, CCDS42551.1	19q13.13	2013-02-12	2006-04-12	2006-04-12		ENSG00000161265		"""RNA binding motif (RRM) containing"""	23020	protein-coding gene	gene with protein product		601080	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 3"", ""U2 small nuclear RNA auxiliary factor 1-like 3"""	U2AF1L3		8586425, 11739736	Standard	NM_001040425		Approved	MGC33901, U2af26	uc002obf.3	Q8WU68		ENST00000412391.2:c.553C>T	19.37:g.36234735G>A	ENSP00000397645:p.Leu185Phe					AD000671.6_ENST00000589807.1_3'UTR|U2AF1L4_ENST00000292879.5_Silent_p.S126S|U2AF1L4_ENST00000378975.3_Missense_Mutation_p.L146F	p.L185F			Q8WU68	U2AF4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	566	-	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		185					A6NKI8|Q56UU3	Missense_Mutation	SNP	ENST00000412391.2	37	c.553C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.50|15.50	2.851877|2.851877	0.51270|0.51270	.|.	.|.	ENSG00000161265|ENSG00000161265	ENST00000392196|ENST00000378975;ENST00000412391	.|.	.|.	.|.	5.43|5.43	3.31|3.31	0.37934|0.37934	.|.	.|.	.|.	.|.	.|.	T|T	0.68458|0.68458	0.3003|0.3003	.|.	.|.	.|.	0.45139|0.45139	D|D	0.998152|0.998152	B|D;D	0.31968|0.71674	0.349|0.998;0.958	B|D;P	0.21917|0.71184	0.037|0.972;0.862	T|T	0.66488|0.66488	-0.5911|-0.5911	7|7	0.48119|0.48119	T|T	0.1|0.1	-12.7009|-12.7009	5.7328|5.7328	0.18049|0.18049	0.1663:0.1612:0.6726:0.0|0.1663:0.1612:0.6726:0.0	.|.	66|185;146	B4E1T9|Q8WU68;Q8WU68-3	.|U2AF4_HUMAN;.	V|F	66|146;185	.|.	ENSP00000376034:A66V|ENSP00000368258:L146F	A|L	-|-	2|1	0|0	U2AF1L4|U2AF1L4	40926575|40926575	1.000000|1.000000	0.71417|0.71417	0.953000|0.953000	0.39169|0.39169	0.006000|0.006000	0.05464|0.05464	1.461000|1.461000	0.35255|0.35255	0.873000|0.873000	0.35799|0.35799	-0.122000|-0.122000	0.15005|0.15005	GCT|CTC		0.572	U2AF1L4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144987		7	13	0	0	0	0.006214	0	7	13				
CACNA1E	777	broad.mit.edu	37	1	181767512	181767512	+	Missense_Mutation	SNP	G	G	A	rs373618053	byFrequency	TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:181767512G>A	ENST00000367573.2	+	48	6484	c.6484G>A	c.(6484-6486)Gtc>Atc	p.V2162I	CACNA1E_ENST00000526775.1_Missense_Mutation_p.V2100I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V2119I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V2051I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V2143I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V1726I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V2113I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2162					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCTCCCACCCGTCCCGCCAAA	0.627													G|||	3	0.000599042	0.0015	0.0	5008	,	,		16293	0.0		0.0	False		,,,				2504	0.001					ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(6298-6300)Gtc>Atc		calcium channel, voltage-dependent, R type, alpha 1E subunit		G	ILE/VAL,ILE/VAL,ILE/VAL	1,3993		0,1,1996	81.0	94.0	90.0		6355,6484,6298	3.7	0.3	1		90	1,8307		0,1,4153	no	missense,missense,missense	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	29,29,29	0,2,6149	AA,AG,GG		0.012,0.025,0.0163	possibly-damaging,possibly-damaging,possibly-damaging	2119/2271,2162/2314,2100/2252	181767512	2,12300	1997	4154	6151	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181767512G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6484G>A	1.37:g.181767512G>A	ENSP00000356545:p.Val2162Ile					CACNA1E_ENST00000358338.5_Missense_Mutation_p.V2051I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V2162I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V1726I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V2119I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V2143I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V2113I	p.V2100I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			46	6463	+			2162					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.6298G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654889	0.67472	2.5E-4	1.2E-4	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96300	-3.9;-3.9;-3.9;-3.9;-3.97;-3.91;-3.9	5.55	3.66	0.41972	.	0.405200	0.26432	N	0.024414	D	0.93197	0.7833	N	0.22421	0.69	0.37095	D	0.899647	D;B	0.61080	0.989;0.306	P;B	0.47915	0.561;0.038	D	0.93286	0.6664	10	0.66056	D	0.02	.	11.6544	0.51309	0.0684:0.1229:0.8087:0.0	.	2100;2119	Q15878-2;Q15878-3	.;.	I	2119;2100;2113;2051;1726;2143;2162	ENSP00000356542:V2119I;ENSP00000434814:V2100I;ENSP00000350183:V2113I;ENSP00000351101:V2051I;ENSP00000356539:V1726I;ENSP00000353222:V2143I;ENSP00000356545:V2162I	ENSP00000350183:V2113I	V	+	1	0	CACNA1E	180034135	1.000000	0.71417	0.258000	0.24420	0.878000	0.50629	3.732000	0.55021	0.665000	0.31066	-0.336000	0.08194	GTC		0.627	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		51	21	0	0	0	0.014410	0	51	21				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			9	210	0	0	0	0.004482	0	9	210				
AHCY	191	broad.mit.edu	37	20	32878543	32878543	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr20:32878543T>C	ENST00000217426.2	-	6	837	c.760A>G	c.(760-762)Atg>Gtg	p.M254V	AHCY_ENST00000538132.1_Missense_Mutation_p.M226V|AHCY_ENST00000468908.1_5'Flank	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	254					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTACCCTCCATGGCAGCCTGC	0.632																																						ENST00000538132.1																			0				endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(676-678)Atg>Gtg		adenosylhomocysteinase							124.0	119.0	121.0					20																	32878543		2203	4300	6503	SO:0001583	missense	191				methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding	g.chr20:32878543T>C	M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"""S-adenosylhomocysteine hydrolase"""			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.760A>G	20.37:g.32878543T>C	ENSP00000217426:p.Met254Val					AHCY_ENST00000217426.2_Missense_Mutation_p.M254V	p.M226V	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN			6	1062	-			254					A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Missense_Mutation	SNP	ENST00000217426.2	37	c.676A>G	CCDS13233.1	.	.	.	.	.	.	.	.	.	.	T	13.32	2.202511	0.38905	.	.	ENSG00000101444	ENST00000217426;ENST00000538132	T;T	0.78707	-1.2;-1.2	4.53	4.53	0.55603	S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	0.000000	0.85682	D	0.000000	D	0.86552	0.5960	M	0.91249	3.19	0.80722	D	1	P	0.37141	0.584	P	0.47645	0.553	D	0.88496	0.3079	10	0.52906	T	0.07	.	14.3056	0.66382	0.0:0.0:0.0:1.0	.	254	P23526	SAHH_HUMAN	V	254;226	ENSP00000217426:M254V;ENSP00000442820:M226V	ENSP00000217426:M254V	M	-	1	0	AHCY	32342204	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	7.710000	0.84655	2.042000	0.60477	0.454000	0.30748	ATG		0.632	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687		86	102	0	0	0	0.014410	0	86	102				
PCDHA9	9752	broad.mit.edu	37	5	140229692	140229692	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr5:140229692C>T	ENST00000532602.1	+	1	2645	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.R538C|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAGCGCGCGCGACGCGGG	0.667																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1612-1614)Cgc>Tgc									59.0	67.0	64.0					5																	140229692		2195	4269	6464	SO:0001583	missense	0							g.chr5:140229692C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1612C>T	5.37:g.140229692C>T	ENSP00000436042:p.Arg538Cys					PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.R538C|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.R538C	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2336	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1612C>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783281	0.31593	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.54866	0.55;0.55	3.56	2.69	0.31865	Cadherin (5);Cadherin-like (1);	0.000000	0.31660	U	0.007279	T	0.56587	0.1995	L	0.46819	1.47	0.30351	N	0.784816	B;D	0.89917	0.435;1.0	B;P	0.62014	0.082;0.897	T	0.56733	-0.7930	10	0.72032	D	0.01	.	5.4878	0.16759	0.5013:0.4002:0.0:0.0985	.	538;538	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	C	538	ENSP00000436042:R538C;ENSP00000367362:R538C	ENSP00000367362:R538C	R	+	1	0	PCDHA9	140209876	0.000000	0.05858	1.000000	0.80357	0.764000	0.43329	-1.950000	0.01530	0.834000	0.34852	-0.676000	0.03789	CGC		0.667	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		105	129	0	0	0	0.014410	0	105	129				
CD101	9398	broad.mit.edu	37	1	117552477	117552477	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:117552477C>T	ENST00000256652.4	+	2	107	c.49C>T	c.(49-51)Ctc>Ttc	p.L17F	CD101_ENST00000369470.1_Missense_Mutation_p.L17F	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	17					cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACAAGCTAAGCTCAGCATTGG	0.443																																						ENST00000256652.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(49-51)Ctc>Ttc		CD101 molecule							74.0	76.0	75.0					1																	117552477		2203	4300	6503	SO:0001583	missense	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117552477C>T	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.49C>T	1.37:g.117552477C>T	ENSP00000256652:p.Leu17Phe					CD101_ENST00000369470.1_Missense_Mutation_p.L17F	p.L17F	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN			2	107	+			17					Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	c.49C>T	CCDS891.1	.	.	.	.	.	.	.	.	.	.	C	9.344	1.063836	0.20067	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.04156	3.69;3.69	5.79	4.87	0.63330	Immunoglobulin-like fold (1);	0.264494	0.27586	N	0.018718	T	0.01695	0.0054	L	0.33485	1.01	0.26672	N	0.971706	B	0.29508	0.246	B	0.26094	0.066	T	0.41945	-0.9480	10	0.35671	T	0.21	-12.5549	13.0834	0.59127	0.0:0.9214:0.0:0.0786	.	17	Q93033	IGSF2_HUMAN	F	17	ENSP00000256652:L17F;ENSP00000358482:L17F	ENSP00000256652:L17F	L	+	1	0	CD101	117354000	1.000000	0.71417	1.000000	0.80357	0.161000	0.22273	1.775000	0.38584	1.418000	0.47098	0.655000	0.94253	CTC		0.443	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		28	39	0	0	0	0.009535	0	28	39				
SPATA31A6	389730	broad.mit.edu	37	9	43627707	43627707	+	Missense_Mutation	SNP	A	A	G	rs200754251		TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr9:43627707A>G	ENST00000332857.6	-	4	1008	c.980T>C	c.(979-981)gTc>gCc	p.V327A	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	327					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TATCCCCACGACATTCTGGCC	0.458																																						ENST00000332857.6																			0											c.(979-981)gTc>gCc		SPATA31 subfamily A, member 6																																				SO:0001583	missense	389730							g.chr9:43627707A>G		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.980T>C	9.37:g.43627707A>G	ENSP00000329825:p.Val327Ala						p.V327A	NM_001145196.1	NP_001138668.1					4	1008	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.980T>C	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	A	5.178	0.218349	0.09810	.	.	ENSG00000185775	ENST00000332857	T	0.03689	3.84	1.91	0.742	0.18341	.	1.139540	0.06749	N	0.779725	T	0.04003	0.0112	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45411	-0.9263	10	0.41790	T	0.15	0.2104	3.755	0.08582	0.7999:0.0:0.2001:0.0	.	327	Q5VVP1	F75A6_HUMAN	A	327	ENSP00000329825:V327A	ENSP00000329825:V327A	V	-	2	0	FAM75A6	43567703	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.032000	0.13732	0.203000	0.20529	0.369000	0.22263	GTC		0.458	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		7	384	0	0	0	0.006214	0	7	384				
LRRFIP1	9208	broad.mit.edu	37	2	238671963	238671963	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:238671963G>A	ENST00000392000.4	+	11	1724	c.1607G>A	c.(1606-1608)aGt>aAt	p.S536N	LRRFIP1_ENST00000244815.5_Missense_Mutation_p.S512N|LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.S480N	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	536	DNA-binding.				innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		ACAGGTCCAAGTACAGTAGAC	0.473																																						ENST00000244815.5																			0				NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(1534-1536)aGt>aAt		leucine rich repeat (in FLII) interacting protein 1							77.0	84.0	81.0					2																	238671963		2203	4300	6503	SO:0001583	missense	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238671963G>A	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.1607G>A	2.37:g.238671963G>A	ENSP00000375857:p.Ser536Asn					LRRFIP1_ENST00000289175.6_Missense_Mutation_p.S480N|LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.S536N	p.S512N	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	10	1775	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	536			DNA-binding.		E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	c.1535G>A	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.583364	0.28268	.	.	ENSG00000124831	ENST00000289175;ENST00000244815;ENST00000392000	T;T;T	0.10763	2.84;2.84;2.85	5.06	0.733	0.18289	.	2.277220	0.01393	N	0.013319	T	0.06096	0.0158	N	0.14661	0.345	0.09310	N	1	B;B;B	0.32160	0.358;0.244;0.358	B;B;B	0.27500	0.08;0.055;0.08	T	0.24368	-1.0162	10	0.25106	T	0.35	7.0E-4	2.7209	0.05200	0.1696:0.2515:0.4508:0.1282	.	480;536;512	Q32MZ4-3;Q32MZ4;Q32MZ4-2	.;LRRF1_HUMAN;.	N	480;512;536	ENSP00000289175:S480N;ENSP00000244815:S512N;ENSP00000375857:S536N	ENSP00000244815:S512N	S	+	2	0	LRRFIP1	238336702	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.488000	0.06497	0.197000	0.20387	0.655000	0.94253	AGT		0.473	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		50	70	0	0	0	0.014410	0	50	70				
B4GALNT3	283358	broad.mit.edu	37	12	675072	675072	+	IGR	SNP	C	C	T	rs370934493		TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr12:675072C>T	ENST00000266383.5	+	0	5068				NINJ2_ENST00000537416.1_5'UTR|NINJ2_ENST00000397265.3_Intron|NINJ2_ENST00000433832.2_Silent_p.P66P|NINJ2_ENST00000305108.4_Intron|NINJ2_ENST00000542920.1_Intron	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3						metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CTGCCAGCCACGGGTGCCGAG	0.632																																						ENST00000433832.2																			0				large_intestine(3)|lung(1)|ovary(2)	6						c.(196-198)ccG>ccA		ninjurin 2		C		0,4406		0,0,2203	51.0	43.0	46.0			-1.8	0.0	12		46	1,8599	1.2+/-3.3	0,1,4299	no	intron	NINJ2	NM_016533.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077			675072	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	4815				nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane		g.chr12:675072C>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283		12.37:g.675072C>T						NINJ2_ENST00000305108.4_Intron|NINJ2_ENST00000537416.1_5'UTR|NINJ2_ENST00000397265.3_Intron|NINJ2_ENST00000542920.1_Intron	p.P66P			Q9NZG7	NINJ2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)		2	398	-	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		0					Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	c.198G>A	CCDS8504.1																																																																																				0.632	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		8	23	0	0	0	0.003080	0	8	23				
BIVM	54841	broad.mit.edu	37	13	103492069	103492069	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr13:103492069A>C	ENST00000257336.1	+	11	2045	c.1366A>C	c.(1366-1368)Aat>Cat	p.N456H	BIVM_ENST00000419638.1_3'UTR|BIVM_ENST00000448849.2_Missense_Mutation_p.N234H|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.Q427P	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	456						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GAGTGAAGACAATATTTCCAA	0.458																																						ENST00000602836.1																			0											c.(1279-1281)cAa>cCa									114.0	109.0	111.0					13																	103492069		2203	4300	6503	SO:0001583	missense	0				nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding	g.chr13:103492069A>C	AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.1366A>C	13.37:g.103492069A>C	ENSP00000257336:p.Asn456His					BIVM_ENST00000257336.1_Missense_Mutation_p.N456H|BIVM_ENST00000448849.2_Missense_Mutation_p.N234H|BIVM_ENST00000419638.1_3'UTR	p.Q427P	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN			9	1280	+			0					Q2M1J2|Q9NXM4	Missense_Mutation	SNP	ENST00000257336.1	37	c.1280A>C	CCDS9505.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.989833	0.74589	.	.	ENSG00000134897;ENSG00000134897;ENSG00000134899	ENST00000257336;ENST00000448849;ENST00000418659	.	.	.	5.4	5.4	0.78164	.	0.533626	0.19756	N	0.106787	T	0.59851	0.2224	L	0.36672	1.1	0.34907	D	0.747104	D;D;P	0.61080	0.989;0.976;0.547	P;P;B	0.58172	0.834;0.72;0.24	T	0.71431	-0.4595	9	0.72032	D	0.01	-6.1559	15.4412	0.75184	1.0:0.0:0.0:0.0	.	234;427;456	Q86UB2-2;Q59FZ7;Q86UB2	.;.;BIVM_HUMAN	H	456;234;427	.	ENSP00000257336:N456H	N	+	1	0	ERCC5;BIVM	102290070	1.000000	0.71417	0.983000	0.44433	0.996000	0.88848	4.369000	0.59511	2.034000	0.60081	0.460000	0.39030	AAT		0.458	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045704.2			3	132	0	0	0	0.000602	0	3	132				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		8	63	0	0	0	0.008291	0	8	63				
LCN9	392399	broad.mit.edu	37	9	138557738	138557738	+	Silent	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr9:138557738G>A	ENST00000277526.3	+	6	507	c.507G>A	c.(505-507)ccG>ccA	p.P169P	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	169						extracellular region (GO:0005576)	pheromone binding (GO:0005550)|transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		ACAGGAGCCCGCCCAGGCCTC	0.687																																						ENST00000277526.3																			0				kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6						c.(505-507)ccG>ccA		lipocalin 9							21.0	23.0	23.0					9																	138557738		1930	4121	6051	SO:0001819	synonymous_variant	392399					extracellular region	pheromone binding|transporter activity	g.chr9:138557738G>A	AY301270	CCDS56593.1	9q34	2011-11-14			ENSG00000148386	ENSG00000148386		"""Lipocalins"""	17442	protein-coding gene	gene with protein product	"""MUP-like lipocalin"", ""epididymal-specific lipocalin-9"""	612903				15363845	Standard	NM_001001676		Approved		uc004cgk.2	Q8WX39	OTTHUMG00000020916	ENST00000277526.3:c.507G>A	9.37:g.138557738G>A						LCN9_ENST00000430290.2_3'UTR	p.P169P	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)	6	507	+		Myeloproliferative disorder(178;0.0821)	169					C9J5F0|Q6JVE7	Silent	SNP	ENST00000277526.3	37	c.507G>A	CCDS56593.1																																																																																				0.687	LCN9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410711.1	NM_001001676		9	12	0	0	0	0.008291	0	9	12				
KLK4	9622	broad.mit.edu	37	19	51412631	51412631	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:51412631C>T	ENST00000324041.1	-	2	100	c.101G>A	c.(100-102)gGc>gAc	p.G34D	KLK4_ENST00000597441.1_5'Flank|KLK4_ENST00000431178.2_5'Flank	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	34	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GCAGTCCTCGCCGTTTATGAT	0.647																																						ENST00000324041.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19						c.(100-102)gGc>gAc		kallikrein-related peptidase 4							123.0	136.0	132.0					19																	51412631		2203	4300	6503	SO:0001583	missense	9622				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr19:51412631C>T	AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6365	protein-coding gene	gene with protein product		603767	"""kallikrein 4 (prostase, enamel matrix, prostate)"""	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.101G>A	19.37:g.51412631C>T	ENSP00000326159:p.Gly34Asp						p.G34D	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)	2	100	-		all_neural(266;0.026)	34			Peptidase S1.		Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Missense_Mutation	SNP	ENST00000324041.1	37	c.101G>A	CCDS12809.1	.	.	.	.	.	.	.	.	.	.	c	19.05	3.751805	0.69533	.	.	ENSG00000167749	ENST00000324041	D	0.96685	-4.09	3.8	3.8	0.43715	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.40302	N	0.001131	D	0.98413	0.9472	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99060	1.0830	10	0.87932	D	0	.	13.5212	0.61569	0.0:1.0:0.0:0.0	.	34	Q9Y5K2	KLK4_HUMAN	D	34	ENSP00000326159:G34D	ENSP00000326159:G34D	G	-	2	0	KLK4	56104443	0.557000	0.26546	0.172000	0.22920	0.030000	0.12068	2.386000	0.44380	2.124000	0.65301	0.561000	0.74099	GGC		0.647	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917		158	180	0	0	0	0.014410	0	158	180				
KRTAP4-11	653240	broad.mit.edu	37	17	39274214	39274214	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr17:39274214G>C	ENST00000391413.2	-	1	392	c.354C>G	c.(352-354)agC>agG	p.S118R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	118	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gtctgcagcagctggacacac	0.652																																						ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(352-354)agC>agG		keratin associated protein 4-11							4.0	8.0	7.0					17																	39274214		642	1521	2163	SO:0001583	missense	653240					keratin filament		g.chr17:39274214G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.354C>G	17.37:g.39274214G>C	ENSP00000375232:p.Ser118Arg						p.S118R	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	392	-		Breast(137;0.000496)	118			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.354C>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	11.65	1.702454	0.30232	.	.	ENSG00000212721	ENST00000391413	T	0.01963	4.53	3.63	2.63	0.31362	.	.	.	.	.	T	0.05914	0.0154	M	0.92691	3.335	0.25757	N	0.984995	B	0.18166	0.026	B	0.19391	0.025	T	0.23013	-1.0200	9	0.37606	T	0.19	.	5.3088	0.15819	0.1185:0.2126:0.6689:0.0	.	118	Q9BYQ6	KR411_HUMAN	R	118	ENSP00000375232:S118R	ENSP00000375232:S118R	S	-	3	2	KRTAP4-11	36527740	0.000000	0.05858	0.722000	0.30670	0.015000	0.08874	0.147000	0.16202	0.630000	0.30394	-0.413000	0.06143	AGC		0.652	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			5	60	0	0	0	0.003080	0	5	60				
CAGE1	285782	broad.mit.edu	37	6	7373784	7373784	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr6:7373784C>T	ENST00000512086.1	-	5	1470	c.1268G>A	c.(1267-1269)aGg>aAg	p.R423K	CAGE1_ENST00000379918.4_Missense_Mutation_p.R423K|CAGE1_ENST00000296742.7_Missense_Mutation_p.R287K|CAGE1_ENST00000509324.1_5'Flank|CAGE1_ENST00000502583.1_Missense_Mutation_p.R423K|CAGE1_ENST00000338150.4_Missense_Mutation_p.R423K			Q8TC20	CAGE1_HUMAN	cancer antigen 1	423										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					AGTCATGTACCTTTCCTGTAA	0.348																																						ENST00000502583.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19						c.(1267-1269)aGg>aAg		cancer antigen 1							110.0	97.0	101.0					6																	7373784		1863	4098	5961	SO:0001583	missense	285782							g.chr6:7373784C>T	BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1268G>A	6.37:g.7373784C>T	ENSP00000427583:p.Arg423Lys					CAGE1_ENST00000512086.1_Missense_Mutation_p.R423K|CAGE1_ENST00000338150.4_Missense_Mutation_p.R423K|CAGE1_ENST00000296742.7_Missense_Mutation_p.R287K|CAGE1_ENST00000379918.4_Missense_Mutation_p.R423K	p.R423K	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN			5	1832	-	Ovarian(93;0.0418)		423					D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Missense_Mutation	SNP	ENST00000512086.1	37	c.1268G>A		.	.	.	.	.	.	.	.	.	.	C	6.245	0.413283	0.11812	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150;ENST00000542431;ENST00000512691	T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44	5.66	3.56	0.40772	.	0.268243	0.32488	N	0.006037	T	0.07954	0.0199	L	0.35854	1.095	0.23645	N	0.997213	B;B;B	0.28350	0.208;0.084;0.208	B;B;B	0.23574	0.038;0.022;0.047	T	0.21415	-1.0246	10	0.17832	T	0.49	-7.2448	8.8897	0.35425	0.0:0.8034:0.0:0.1966	.	423;423;423	Q8TC20-3;D6RCT9;Q8TC20	.;.;CAGE1_HUMAN	K	423;423;423;287;423;423;423;435	ENSP00000369250:R423K;ENSP00000425493:R423K;ENSP00000296742:R287K;ENSP00000427583:R423K;ENSP00000338107:R423K;ENSP00000423789:R435K	ENSP00000296742:R287K	R	-	2	0	CAGE1	7318783	0.063000	0.20901	0.827000	0.32855	0.053000	0.15095	0.107000	0.15375	1.394000	0.46624	0.591000	0.81541	AGG		0.348	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745		43	50	0	0	0	0.008740	0	43	50				
LTF	4057	broad.mit.edu	37	3	46491405	46491405	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:46491405C>A	ENST00000231751.4	-	8	1291	c.996G>T	c.(994-996)agG>agT	p.R332S	LTF_ENST00000417439.1_Missense_Mutation_p.R332S|LTF_ENST00000426532.2_Missense_Mutation_p.R288S	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	332	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		CAGAATCTATCCTCGGGGGCA	0.557																																						ENST00000231751.4																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40						c.(994-996)agG>agT		lactotransferrin	Pefloxacin(DB00487)						73.0	73.0	73.0					3																	46491405		2203	4296	6499	SO:0001583	missense	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46491405C>A		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.996G>T	3.37:g.46491405C>A	ENSP00000231751:p.Arg332Ser					LTF_ENST00000417439.1_Missense_Mutation_p.R332S|LTF_ENST00000426532.2_Missense_Mutation_p.R288S	p.R332S	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	8	1291	-			332			Transferrin-like 1.		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	c.996G>T	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	C	9.143	1.014378	0.19277	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.13089	2.62;2.62;2.62;2.62	4.84	-1.63	0.08345	.	0.854643	0.10825	N	0.630036	T	0.07773	0.0195	N	0.11870	0.19	0.09310	N	1	P;P;P	0.36577	0.453;0.558;0.453	B;B;B	0.43331	0.416;0.348;0.416	T	0.28427	-1.0044	10	0.46703	T	0.11	-0.8823	1.1412	0.01766	0.1471:0.3626:0.1436:0.3467	.	332;319;332	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	S	332;288;332;319	ENSP00000231751:R332S;ENSP00000405719:R288S;ENSP00000405546:R332S;ENSP00000397427:R319S	ENSP00000231751:R332S	R	-	3	2	LTF	46466409	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.171000	0.09883	-0.314000	0.08716	-1.102000	0.02115	AGG		0.557	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		30	26	1	0	2.70662e-09	0.009535	1.05891e-08	30	26				
BCLAF1	9774	broad.mit.edu	37	6	136599103	136599103	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr6:136599103C>T	ENST00000531224.1	-	4	1168	c.916G>A	c.(916-918)Gca>Aca	p.A306T	BCLAF1_ENST00000392348.2_Missense_Mutation_p.A304T|BCLAF1_ENST00000527759.1_Missense_Mutation_p.A304T|BCLAF1_ENST00000527536.1_Missense_Mutation_p.A306T|BCLAF1_ENST00000353331.4_Missense_Mutation_p.A304T|BCLAF1_ENST00000530767.1_Missense_Mutation_p.A306T	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	306					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.A306S(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTCTGTGGTGCGATTGTCTTT	0.458																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			1	Substitution - Missense(1)	p.A306S(1)	prostate(1)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(916-918)Gca>Aca		BCL2-associated transcription factor 1							83.0	78.0	79.0					6																	136599103		2203	4298	6501	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599103C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.916G>A	6.37:g.136599103C>T	ENSP00000435210:p.Ala306Thr					BCLAF1_ENST00000527759.1_Missense_Mutation_p.A304T|BCLAF1_ENST00000530767.1_Missense_Mutation_p.A306T|BCLAF1_ENST00000392348.2_Missense_Mutation_p.A304T|BCLAF1_ENST00000353331.4_Missense_Mutation_p.A304T|BCLAF1_ENST00000527536.1_Missense_Mutation_p.A306T	p.A306T	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	1168	-	Colorectal(23;0.24)		306					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.916G>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	9.735	1.163190	0.21538	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62;2.62;2.62	5.82	2.28	0.28536	.	0.260773	0.33534	N	0.004817	T	0.01870	0.0059	N	0.08118	0	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.40813	-0.9543	10	0.22109	T	0.4	-6.2172	6.9672	0.24629	0.0:0.1711:0.2362:0.5927	.	304;304;306;306	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	T	306;304;306;306;304;304;306	ENSP00000435210:A306T;ENSP00000229446:A304T;ENSP00000435441:A306T;ENSP00000436501:A306T;ENSP00000434826:A304T;ENSP00000376159:A304T;ENSP00000431734:A306T	ENSP00000229446:A304T	A	-	1	0	BCLAF1	136640796	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	0.522000	0.22909	0.474000	0.27392	-1.128000	0.01989	GCA		0.458	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		24	130	0	0	0	0.004656	0	24	130				
LGR6	59352	broad.mit.edu	37	1	202205107	202205107	+	Silent	SNP	G	G	A	rs563539874		TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:202205107G>A	ENST00000367278.3	+	4	503	c.414G>A	c.(412-414)ccG>ccA	p.P138P	LGR6_ENST00000255432.7_Silent_p.P86P|LGR6_ENST00000439764.2_Silent_p.P95P	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	138					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGGAGCTGCCGAGCCTGCAGT	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		16696	0.0		0.0	False		,,,				2504	0.001					ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(412-414)ccG>ccA		leucine-rich repeat containing G protein-coupled receptor 6							48.0	53.0	51.0					1																	202205107		2203	4300	6503	SO:0001819	synonymous_variant	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202205107G>A	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.414G>A	1.37:g.202205107G>A						LGR6_ENST00000255432.7_Silent_p.P86P|LGR6_ENST00000439764.2_Silent_p.P95P	p.P138P	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			4	503	+			138					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	ENST00000367278.3	37	c.414G>A	CCDS30971.1																																																																																				0.607	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		5	67	0	0	0	0.001168	0	5	67				
SIPA1L2	57568	broad.mit.edu	37	1	232649979	232649979	+	Missense_Mutation	SNP	C	C	T	rs113255944	byFrequency	TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:232649979C>T	ENST00000366630.1	-	2	1465	c.1107G>A	c.(1105-1107)atG>atA	p.M369I	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.M369I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	369					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGCCCGTAGGCATCTGAGTCT	0.507													C|||	4	0.000798722	0.003	0.0	5008	,	,		19603	0.0		0.0	False		,,,				2504	0.0					ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(1105-1107)atG>atA		signal-induced proliferation-associated 1 like 2		C	ILE/MET	19,3873		0,19,1927	103.0	105.0	104.0		1107	4.5	1.0	1	dbSNP_132	104	0,8282		0,0,4141	yes	missense	SIPA1L2	NM_020808.3	10	0,19,6068	TT,TC,CC		0.0,0.4882,0.1561	benign	369/1723	232649979	19,12155	1946	4141	6087	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232649979C>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1107G>A	1.37:g.232649979C>T	ENSP00000355589:p.Met369Ile					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.M369I	p.M369I			Q9P2F8	SI1L2_HUMAN			2	1465	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	369					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.1107G>A	CCDS41474.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	8.958	0.969918	0.18659	0.004882	0.0	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.77489	-1.1;-1.1	5.39	4.46	0.54185	.	0.514098	0.24350	N	0.039285	T	0.48370	0.1496	N	0.08118	0	0.28358	N	0.92059	B	0.02656	0.0	B	0.04013	0.001	T	0.45026	-0.9289	10	0.32370	T	0.25	-14.58	8.7381	0.34541	0.1566:0.7686:0.0:0.0749	.	369	Q9P2F8	SI1L2_HUMAN	I	369	ENSP00000355589:M369I;ENSP00000262861:M369I	ENSP00000262861:M369I	M	-	3	0	SIPA1L2	230716602	0.897000	0.30589	0.988000	0.46212	0.727000	0.41649	1.187000	0.32090	1.451000	0.47736	0.650000	0.86243	ATG		0.507	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		6	139	0	0	0	0.001168	0	6	139				
PHLDB1	23187	broad.mit.edu	37	11	118516357	118516357	+	Silent	SNP	C	C	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr11:118516357C>T	ENST00000361417.2	+	17	3816	c.3405C>T	c.(3403-3405)gaC>gaT	p.D1135D	PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_Silent_p.D186D|PHLDB1_ENST00000524713.1_Silent_p.D278D|PHLDB1_ENST00000356063.5_Silent_p.D1088D	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1135										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GCTCCCCTGACAACATGTCCA	0.642																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(3403-3405)gaC>gaT		pleckstrin homology-like domain, family B, member 1							82.0	78.0	79.0					11																	118516357		2200	4295	6495	SO:0001819	synonymous_variant	23187							g.chr11:118516357C>T		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.3405C>T	11.37:g.118516357C>T						PHLDB1_ENST00000356063.5_Silent_p.D1088D|PHLDB1_ENST00000524713.1_Silent_p.D278D|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_Silent_p.D186D	p.D1135D	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	17	3816	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	1135					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	c.3405C>T	CCDS8401.1																																																																																				0.642	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		34	54	0	0	0	0.012213	0	34	54				
FAM83E	54854	broad.mit.edu	37	19	49107168	49107168	+	Splice_Site	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:49107168G>A	ENST00000263266.3	-	4	948	c.759C>T	c.(757-759)agC>agT	p.S253S	SPACA4_ENST00000321762.1_5'Flank	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	253										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TCCACGTGAAGCTGGGGGTCG	0.662																																						ENST00000263266.3																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10						c.e4-1		family with sequence similarity 83, member E							29.0	31.0	30.0					19																	49107168		2192	4284	6476	SO:0001630	splice_region_variant	54854							g.chr19:49107168G>A	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.759-1C>T	19.37:g.49107168G>A							p.S253_splice	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	4	948	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	253					Q9NXK1	Splice_Site	SNP	ENST00000263266.3	37	c.758_splice	CCDS42587.1																																																																																				0.662	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708	Silent	27	36	0	0	0	0.006320	0	27	36				
AFF3	3899	broad.mit.edu	37	2	100203740	100203740	+	Splice_Site	SNP	A	A	G			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:100203740A>G	ENST00000409236.2	-	14	2579	c.2467T>C	c.(2467-2469)Tgt>Cgt	p.C823R	AFF3_ENST00000356421.2_Splice_Site_p.C848R|AFF3_ENST00000409579.1_Splice_Site_p.C848R|AFF3_ENST00000317233.4_Splice_Site_p.C823R			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	823					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCGTTGTCACACTGTATGGGA	0.493																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.e15-1		AF4/FMR2 family, member 3							229.0	197.0	208.0					2																	100203740		2203	4300	6503	SO:0001630	splice_region_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100203740A>G	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2467-1T>C	2.37:g.100203740A>G						AFF3_ENST00000409236.1_Splice_Site_p.C823_splice|AFF3_ENST00000356421.2_Splice_Site_p.C848_splice|AFF3_ENST00000409579.1_Splice_Site_p.C848_splice	p.C823_splice	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			15	2702	-			823					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Splice_Site	SNP	ENST00000409236.2	37	c.2466_splice	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	A	7.819	0.717269	0.15372	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.92	4.74	0.60224	.	0.317881	0.30979	N	0.008491	T	0.66587	0.2804	L	0.51422	1.61	0.58432	D	0.999997	P;B;P	0.50819	0.939;0.162;0.731	P;B;B	0.57846	0.828;0.187;0.444	T	0.61481	-0.7054	10	0.18276	T	0.48	.	10.8637	0.46842	0.9281:0.0:0.0719:0.0	.	976;823;848	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	R	823;848;848;823;823;976	ENSP00000317421:C823R;ENSP00000348793:C848R;ENSP00000386834:C848R;ENSP00000387207:C823R	ENSP00000317421:C823R	C	-	1	0	AFF3	99570172	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	4.362000	0.59467	1.029000	0.39812	0.533000	0.62120	TGT		0.493	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285	Missense_Mutation	66	95	0	0	0	0.014410	0	66	95				
MCF2L	23263	broad.mit.edu	37	13	113732744	113732744	+	Silent	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr13:113732744G>A	ENST00000375608.3	+	15	1876	c.1818G>A	c.(1816-1818)agG>agA	p.R606R	MCF2L_ENST00000375597.4_Silent_p.R574R|MCF2L_ENST00000434480.2_Silent_p.R582R|MCF2L_ENST00000421756.1_Silent_p.R580R|MCF2L_ENST00000397030.1_Silent_p.R609R|MCF2L_ENST00000375604.2_Silent_p.R633R|MCF2L_ENST00000442652.2_Silent_p.R606R|MCF2L_ENST00000423482.2_Silent_p.R574R|MCF2L_ENST00000375601.3_Silent_p.R580R|MCF2L_ENST00000535094.2_Silent_p.R576R			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	606					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CCTACCGGAGGGCCAAGGTGA	0.682																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(1825-1827)agG>agA		MCF.2 cell line derived transforming sequence-like							35.0	38.0	37.0					13																	113732744		2200	4299	6499	SO:0001819	synonymous_variant	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113732744G>A	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.1818G>A	13.37:g.113732744G>A						MCF2L_ENST00000535094.2_Silent_p.R576R|MCF2L_ENST00000434480.2_Silent_p.R582R|MCF2L_ENST00000375597.4_Silent_p.R574R|MCF2L_ENST00000375604.2_Silent_p.R633R|MCF2L_ENST00000375601.3_Silent_p.R580R|MCF2L_ENST00000375608.3_Silent_p.R606R|MCF2L_ENST00000421756.1_Silent_p.R580R|MCF2L_ENST00000442652.2_Silent_p.R606R|MCF2L_ENST00000423482.2_Silent_p.R574R	p.R609R			O15068	MCF2L_HUMAN			14	1864	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	606					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	ENST00000375608.3	37	c.1827G>A		.	.	.	.	.	.	.	.	.	.	G	6.446	0.450364	0.12223	.	.	ENSG00000126217	ENST00000397017	.	.	.	4.06	-2.3	0.06785	.	.	.	.	.	T	0.53722	0.1814	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48768	-0.9006	4	.	.	.	.	9.1139	0.36746	0.5148:0.0:0.4852:0.0	.	.	.	.	S	237	.	.	G	+	1	0	MCF2L	112780745	0.959000	0.32827	0.959000	0.39883	0.552000	0.35366	-0.266000	0.08631	-0.569000	0.06030	-1.036000	0.02392	GGC		0.682	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			11	20	0	0	0	0.010729	0	11	20				
IQCC	55721	broad.mit.edu	37	1	32673327	32673327	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:32673327T>C	ENST00000291358.6	+	5	1066	c.1045T>C	c.(1045-1047)Tca>Cca	p.S349P	DCDC2B_ENST00000409358.1_5'Flank|RP4-622L5.7_ENST00000373604.4_RNA|RP4-622L5.7_ENST00000421616.1_RNA|IQCC_ENST00000537469.1_Missense_Mutation_p.S429P	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	349										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTATGAGGACTCAAATATTAA	0.498																																						ENST00000537469.1																			0				endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15						c.(1285-1287)Tca>Cca		IQ motif containing C							68.0	76.0	74.0					1																	32673327		2203	4300	6503	SO:0001583	missense	55721							g.chr1:32673327T>C	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.1045T>C	1.37:g.32673327T>C	ENSP00000291358:p.Ser349Pro					IQCC_ENST00000291358.6_Missense_Mutation_p.S349P	p.S429P	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN			5	1332	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	349					F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Missense_Mutation	SNP	ENST00000291358.6	37	c.1285T>C	CCDS355.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.824315	0.00589	.	.	ENSG00000160051	ENST00000537469;ENST00000291358	T;T	0.23552	1.9;1.94	3.88	-0.206	0.13193	.	0.460978	0.18636	N	0.135453	T	0.05135	0.0137	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33954	-0.9848	10	0.02654	T	1	-0.6988	2.2808	0.04113	0.3411:0.3918:0.1673:0.0998	.	429;349	F5H7T8;Q4KMZ1	.;IQCC_HUMAN	P	429;349	ENSP00000442291:S429P;ENSP00000291358:S349P	ENSP00000291358:S349P	S	+	1	0	IQCC	32445914	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.060000	0.14342	-0.021000	0.14009	-2.841000	0.00105	TCA		0.498	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		3	151	0	0	0	0.009096	0	3	151				
PPRC1	23082	broad.mit.edu	37	10	103906651	103906651	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr10:103906651G>A	ENST00000278070.2	+	9	3941	c.3902G>A	c.(3901-3903)cGg>cAg	p.R1301Q	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.R268Q	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1301					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TATTGTGTCCGGAGCAGGACC	0.572																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(3901-3903)cGg>cAg		peroxisome proliferator-activated receptor gamma, coactivator-related 1							77.0	72.0	74.0					10																	103906651		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103906651G>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3902G>A	10.37:g.103906651G>A	ENSP00000278070:p.Arg1301Gln					PPRC1_ENST00000370012.1_Missense_Mutation_p.R268Q|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron	p.R1301Q	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	9	3941	+		Colorectal(252;0.122)	1301					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.3902G>A	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878940	0.51801	.	.	ENSG00000148840	ENST00000278070;ENST00000370012	T;T	0.30448	1.91;1.53	5.46	4.49	0.54785	.	0.384123	0.24325	N	0.039507	T	0.37265	0.0997	L	0.44542	1.39	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.60117	0.869;0.743	T	0.03221	-1.1059	10	0.28530	T	0.3	.	7.5985	0.28063	0.0:0.1246:0.4898:0.3856	.	1181;1301	Q5VV67-2;Q5VV67	.;PPRC1_HUMAN	Q	1301;268	ENSP00000278070:R1301Q;ENSP00000359029:R268Q	ENSP00000278070:R1301Q	R	+	2	0	PPRC1	103896641	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.308000	0.33528	2.562000	0.86427	0.462000	0.41574	CGG		0.572	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		37	31	0	0	0	0.005524	0	37	31				
KRT14	3861	broad.mit.edu	37	17	39742796	39742796	+	Silent	SNP	A	A	C			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr17:39742796A>C	ENST00000167586.6	-	1	377	c.291T>G	c.(289-291)ggT>ggG	p.G97G		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	97	Head.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				caaagccaccacccaagccag	0.622																																						ENST00000167586.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25						c.(289-291)ggT>ggG		keratin 14							134.0	134.0	134.0					17																	39742796		2203	4300	6503	SO:0001819	synonymous_variant	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39742796A>C	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.291T>G	17.37:g.39742796A>C							p.G97G	NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN			1	377	-		Breast(137;0.000307)	97			Head.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Silent	SNP	ENST00000167586.6	37	c.291T>G	CCDS11400.1																																																																																				0.622	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		12	58	0	0	0	0.003330	0	12	58				
SPOP	8405	broad.mit.edu	37	17	47696431	47696431	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr17:47696431C>G	ENST00000393328.2	-	6	757	c.392G>C	c.(391-393)tGg>tCg	p.W131S	SPOP_ENST00000503676.1_Missense_Mutation_p.W131S|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000504102.1_Missense_Mutation_p.W131S|SPOP_ENST00000393331.3_Missense_Mutation_p.W131S|SPOP_ENST00000347630.2_Missense_Mutation_p.W131S	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CTTGAATCCCCAGTCTTTGCC	0.453										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)tGg>tCg		speckle-type POZ protein							121.0	123.0	123.0					17																	47696431		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696431C>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.392G>C	17.37:g.47696431C>G	ENSP00000377001:p.Trp131Ser	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.W131S|SPOP_ENST00000393328.2_Missense_Mutation_p.W131S|SPOP_ENST00000347630.2_Missense_Mutation_p.W131S|SPOP_ENST00000503676.1_Missense_Mutation_p.W131S	p.W131S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	862	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.392G>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371067	0.82573	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.83330	0.5231	M	0.83012	2.62	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.83693	0.0178	10	0.49607	T	0.09	0.1404	18.9712	0.92715	0.0:1.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	S	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131S;ENSP00000377004:W131S;ENSP00000240327:W131S;ENSP00000425905:W131S;ENSP00000420908:W131S;ENSP00000426986:W131S;ENSP00000420960:W131S;ENSP00000426262:W131S;ENSP00000424119:W131S	ENSP00000240327:W131S	W	-	2	0	SPOP	45051430	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.583000	0.82559	2.802000	0.96397	0.563000	0.77884	TGG		0.453	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		77	106	0	0	0	0.014410	0	77	106				
LTN1	26046	broad.mit.edu	37	21	30331780	30331780	+	Splice_Site	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr21:30331780C>A	ENST00000361371.5	-	13	2672	c.2593G>T	c.(2593-2595)Gat>Tat	p.D865Y	LTN1_ENST00000389194.2_Splice_Site_p.D911Y			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	865					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						AGGCTATTACCTGGCAAATGT	0.388																																						ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.e13+1		listerin E3 ubiquitin protein ligase 1							102.0	106.0	105.0					21																	30331780		2203	4300	6503	SO:0001630	splice_region_variant	26046						ligase activity|zinc ion binding	g.chr21:30331780C>A	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.2593+1G>T	21.37:g.30331780C>A						LTN1_ENST00000389194.2_Splice_Site_p.D911_splice	p.D865_splice	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			13	2743	-			865					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Splice_Site	SNP	ENST00000361371.5	37	c.2593_splice		.	.	.	.	.	.	.	.	.	.	C	28.8	4.952857	0.92660	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.24538	1.85;1.87	5.55	5.55	0.83447	.	0.109140	0.64402	D	0.000010	T	0.38241	0.1033	L	0.32530	0.975	0.80722	D	1	D	0.65815	0.995	P	0.57244	0.816	T	0.07597	-1.0764	10	0.72032	D	0.01	.	19.6941	0.96016	0.0:1.0:0.0:0.0	.	865	O94822	LTN1_HUMAN	Y	911;865	ENSP00000373846:D911Y;ENSP00000354977:D865Y	ENSP00000354977:D865Y	D	-	1	0	LTN1	29253651	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.985000	0.76193	2.885000	0.99019	0.655000	0.94253	GAT		0.388	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565	Missense_Mutation	6	229	1	0	0.00116845	0.001168	0.00441633	6	229				
SSB	6741	broad.mit.edu	37	2	170667531	170667531	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:170667531delC	ENST00000409333.1	+	10	1221	c.974delC	c.(973-975)tccfs	p.S325fs	SSB_ENST00000260956.4_Frame_Shift_Del_p.S325fs|METTL5_ENST00000409837.1_Intron			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	325					histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CAACAAGAATCCCTAAACAAA	0.343																																						ENST00000409333.1																			0				endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(973-975)tcfs		Sjogren syndrome antigen B (autoantigen La)							51.0	52.0	51.0					2																	170667531		2203	4300	6503	SO:0001589	frameshift_variant	6741				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	g.chr2:170667531delC		CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	11316	protein-coding gene	gene with protein product	"""La ribonucleoprotein domain family, member 3"""	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.974delC	2.37:g.170667531delC	ENSP00000386636:p.Ser325fs					SSB_ENST00000260956.4_Frame_Shift_Del_p.S325fs|METTL5_ENST00000409837.1_Intron	p.S325fs			P05455	LA_HUMAN			10	1221	+			325					Q15367|Q53XJ4	Frame_Shift_Del	DEL	ENST00000409333.1	37	c.974delC	CCDS2237.1																																																																																				0.343	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142		23	10						23	10	---	---	---	---
BOD1L1	259282	broad.mit.edu	37	4	13610188	13610189	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr4:13610188_13610189insT	ENST00000040738.5	-	8	1842_1843	c.1707_1708insA	c.(1705-1710)aaagtafs	p.V570fs		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	570	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										CTTAAGGCTACTTTTTTTTCTA	0.366																																						ENST00000040738.5																			0											c.(1705-1710)aatagcfs		biorientation of chromosomes in cell division 1-like 1																																				SO:0001589	frameshift_variant	259282						DNA binding	g.chr4:13610188_13610189insT	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1708dupA	4.37:g.13610196_13610196dupT	ENSP00000040738:p.Val570fs						p.NS569fs	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			8	1842_1843	-			569			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Frame_Shift_Ins	INS	ENST00000040738.5	37	c.1707_1708insA	CCDS3411.2																																																																																				0.366	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		5	10						5	10	---	---	---	---
RP11-114H23.1	0	broad.mit.edu	37	12	76082490	76082491	+	lincRNA	INS	-	-	T	rs71276351		TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr12:76082490_76082491insT	ENST00000552856.1	-	0	401				SNORA70_ENST00000516084.2_RNA																							cattctTTTTCTTTTTTTTTTT	0.361																																						ENST00000552856.1																			0																																																			0							g.chr12:76082490_76082491insT																													12.37:g.76082501_76082501dupT														0	401	-									RNA	INS	ENST00000552856.1	37																																																																																						0.361	RP11-114H23.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000405775.2			3	4						3	4	---	---	---	---
CLEC16A	23274	broad.mit.edu	37	16	11076736	11076738	+	Splice_Site	DEL	TCT	TCT	-			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr16:11076736_11076738delTCT	ENST00000409790.1	+	10	1189_1191	c.959_961delTCT	c.(958-963)gtcttc>gtc	p.F321del	CLEC16A_ENST00000409552.3_Splice_Site_p.F319del	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TTCCGCCAGGTCTTCTTAATTAT	0.448																																						ENST00000409790.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.e10-1		C-type lectin domain family 16, member A																																				SO:0001630	splice_region_variant	23274							g.chr16:11076736_11076738delTCT	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.958-1TCT>-	16.37:g.11076739_11076741delTCT						CLEC16A_ENST00000409552.3_Splice_Site_p.VF318_splice	p.VF320_splice	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN			10	1189_1191	+			320						Splice_Site	DEL	ENST00000409790.1	37	c.957_splice	CCDS45409.1																																																																																				0.448	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226	In_Frame_Del	18	36						18	36	---	---	---	---
PROSER3	148137	broad.mit.edu	37	19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-	rs370252048		TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del	C19orf55_ENST00000396908.4_In_Frame_Del_p.S218del			Q2NL68	PRSR3_HUMAN		218	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGCCTCCATCTCCTCCTCCTCC	0.631																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(637-642)atc>at		chromosome 19 open reading frame 55				30,4128		11,8,2060						2.0	0.3			153	66,8064		29,8,4028	no	coding	C19orf55	NM_001039887.2		40,16,6088	A1A1,A1R,RR		0.8118,0.7215,0.7812				96,12192				SO:0001651	inframe_deletion	148137							g.chr19:36255947_36255949delCTC																												ENST00000544099.1:c.639_641delCTC	19.37:g.36255956_36255958delCTC	ENSP00000467267:p.Ser218del					C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del	p.IS213del			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	702_704	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		213			Ser-rich.		Q8NDI3|Q8WWC8|Q96NL4	In_Frame_Del	DEL	ENST00000544099.1	37	c.639_641delCTC																																																																																					0.631	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			7	352						7	352	---	---	---	---
XRCC6	2547	broad.mit.edu	37	22	42024154	42024155	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr22:42024154_42024155insT	ENST00000359308.4	+	2	770_771	c.115_116insT	c.(115-117)attfs	p.I39fs	XRCC6_ENST00000405506.1_Intron|XRCC6_ENST00000402580.3_Frame_Shift_Ins_p.I39fs|XRCC6_ENST00000360079.3_Frame_Shift_Ins_p.I39fs|XRCC6_ENST00000428575.2_Intron|XRCC6_ENST00000405878.1_Frame_Shift_Ins_p.I39fs			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	39	Ser-rich (potentially targets for phosphorylation).				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						AGATAGTTTGATTTTTTTGGTT	0.332								Non-homologous end-joining																														ENST00000359308.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(115-117)tttfs	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 6																																				SO:0001589	frameshift_variant	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42024154_42024155insT	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.122dupT	22.37:g.42024161_42024161dupT	ENSP00000352257:p.Ile39fs					XRCC6_ENST00000428575.2_Intron|XRCC6_ENST00000405506.1_Intron|XRCC6_ENST00000402580.3_Frame_Shift_Ins_p.F39fs|XRCC6_ENST00000360079.3_Frame_Shift_Ins_p.F39fs|XRCC6_ENST00000405878.1_Frame_Shift_Ins_p.F39fs	p.F39fs			P12956	XRCC6_HUMAN			2	770_771	+			39			Ser-rich (potentially targets for phosphorylation).		B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Frame_Shift_Ins	INS	ENST00000359308.4	37	c.115_116insT	CCDS14021.1																																																																																				0.332	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		36	44						36	44	---	---	---	---
