#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SPEN	23013	broad.mit.edu	37	1	16260826	16260826	+	Silent	SNP	G	G	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr1:16260826G>A	ENST00000375759.3	+	11	8295	c.8091G>A	c.(8089-8091)gtG>gtA	p.V2697V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2697	RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAGGGCCTGTGAATGTTCTTA	0.597																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(8089-8091)gtG>gtA		spen family transcriptional repressor							82.0	83.0	83.0					1																	16260826		2203	4300	6503	SO:0001819	synonymous_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16260826G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.8091G>A	1.37:g.16260826G>A							p.V2697V	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	8295	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2697			RID.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.8091G>A	CCDS164.1																																																																																				0.597	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		11	79	11	79	---	---	---	---
ILDR2	387597	broad.mit.edu	37	1	166904684	166904684	+	Missense_Mutation	SNP	C	C	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr1:166904684C>G	ENST00000271417.3	-	6	789	c.734G>C	c.(733-735)gGg>gCg	p.G245A	ILDR2_ENST00000469934.2_Missense_Mutation_p.G245A|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.G226A	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	245					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GGGAGGGTACCCGGCCTTTGC	0.582																																						ENST00000271417.3																			0				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						c.(733-735)gGg>gCg		immunoglobulin-like domain containing receptor 2							49.0	48.0	48.0					1																	166904684		2203	4300	6503	SO:0001583	missense	387597					integral to membrane		g.chr1:166904684C>G	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.734G>C	1.37:g.166904684C>G	ENSP00000271417:p.Gly245Ala					ILDR2_ENST00000469934.2_Missense_Mutation_p.G245A|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.G226A|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Intron	p.G245A	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN			6	789	-			245						Missense_Mutation	SNP	ENST00000271417.3	37	c.734G>C	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825473	0.90955	.	.	ENSG00000143195	ENST00000271417;ENST00000469934;ENST00000529071	T;T;T	0.60299	0.23;0.31;0.2	5.63	5.63	0.86233	.	0.052562	0.85682	D	0.000000	T	0.72961	0.3526	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74771	-0.3552	10	0.72032	D	0.01	.	19.7433	0.96241	0.0:1.0:0.0:0.0	.	245	Q71H61	ILDR2_HUMAN	A	245;245;226	ENSP00000271417:G245A;ENSP00000437008:G245A;ENSP00000436882:G226A	ENSP00000271417:G245A	G	-	2	0	ILDR2	165171308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.277000	0.72608	2.662000	0.90505	0.556000	0.70494	GGG		0.582	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		10	25	10	25	---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33487888	33487888	+	Splice_Site	SNP	G	G	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr2:33487888G>T	ENST00000404816.2	+	14	2871	c.2518G>T	c.(2518-2520)Gta>Tta	p.V840L	LTBP1_ENST00000390003.4_Missense_Mutation_p.G514C|LTBP1_ENST00000418533.2_Splice_Site_p.V514L|LTBP1_ENST00000354476.3_Missense_Mutation_p.G840C|LTBP1_ENST00000404525.1_Splice_Site_p.V461L|LTBP1_ENST00000402934.1_Splice_Site_p.V461L|LTBP1_ENST00000407925.1_Splice_Site_p.V514L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	840					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.G840S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACAGTTTCCAGGTAGCCTGTG	0.403																																						ENST00000354476.3																			1	Substitution - Missense(1)	p.G840S(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(2518-2520)Ggt>Tgt		latent transforming growth factor beta binding protein 1							70.0	69.0	70.0					2																	33487888		2203	4300	6503	SO:0001630	splice_region_variant	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33487888G>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2518+1G>T	2.37:g.33487888G>T						LTBP1_ENST00000404816.2_Splice_Site_p.V840L|LTBP1_ENST00000390003.4_Missense_Mutation_p.G514C|LTBP1_ENST00000407925.1_Splice_Site_p.V514L|LTBP1_ENST00000404525.1_Splice_Site_p.V461L|LTBP1_ENST00000402934.1_Splice_Site_p.V461L|LTBP1_ENST00000418533.2_Splice_Site_p.V514L	p.G840C	NM_206943.2	NP_996826.2	Q14766	LTBP1_HUMAN			14	2541	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	839					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.2518G>T	CCDS33177.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.81|16.81	3.226691|3.226691	0.58668|0.58668	.|.	.|.	ENSG00000049323|ENSG00000049323	ENST00000354476;ENST00000390003;ENST00000468091|ENST00000404816;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000413303	T;T;T|T;T;T;T;T;T	0.80566|0.80566	-1.39;-1.35;0.29|-1.39;-1.27;-1.3;-1.28;-1.28;1.74	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|.	.|.	.|.	.|.	T|T	0.76630|0.76630	0.4014|0.4014	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	D;D|B;B;B;B	0.89917|0.29988	1.0;1.0|0.05;0.264;0.004;0.024	D;D|B;B;B;B	0.97110|0.31869	1.0;1.0|0.043;0.137;0.005;0.058	T|T	0.72593|0.72593	-0.4246|-0.4246	9|9	0.59425|0.22706	D|T	0.04|0.39	.|.	17.7368|17.7368	0.88396|0.88396	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	514;840|840;514;461;514	Q14766-5;Q14766-4|Q14766;E7EV71;Q14766-3;Q14766-2	.;.|LTBP1_HUMAN;.;.;.	C|L	840;514;157|840;514;461;461;514;168	ENSP00000346467:G840C;ENSP00000374653:G514C;ENSP00000417591:G157C|ENSP00000386043:V840L;ENSP00000393057:V514L;ENSP00000384373:V461L;ENSP00000385359:V461L;ENSP00000384091:V514L;ENSP00000415412:V168L	ENSP00000346467:G840C|ENSP00000384373:V461L	G|V	+|+	1|1	0|0	LTBP1|LTBP1	33341392|33341392	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.890000|0.890000	0.51754|0.51754	7.757000|7.757000	0.85209|0.85209	2.425000|2.425000	0.82216|0.82216	0.561000|0.561000	0.74099|0.74099	GGT|GTA		0.403	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943	Missense_Mutation	10	18	10	18	---	---	---	---
CKAP2L	150468	broad.mit.edu	37	2	113514462	113514462	+	Silent	SNP	A	A	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr2:113514462A>G	ENST00000302450.6	-	4	564	c.486T>C	c.(484-486)tgT>tgC	p.C162C	CKAP2L_ENST00000481732.1_5'UTR|CKAP2L_ENST00000541405.1_5'UTR	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	162						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TAAAGTCTATACATTTACCAT	0.343																																						ENST00000302450.6																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(484-486)tgT>tgC		cytoskeleton associated protein 2-like							72.0	76.0	74.0					2																	113514462		2203	4300	6503	SO:0001819	synonymous_variant	150468					centrosome		g.chr2:113514462A>G	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.486T>C	2.37:g.113514462A>G						CKAP2L_ENST00000541405.1_5'UTR|CKAP2L_ENST00000481732.1_5'UTR	p.C162C	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN			4	564	-			162					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Silent	SNP	ENST00000302450.6	37	c.486T>C	CCDS2100.1																																																																																				0.343	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		14	35	14	35	---	---	---	---
OR6B2	389090	broad.mit.edu	37	2	240969799	240969799	+	Silent	SNP	G	G	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr2:240969799G>A	ENST00000402971.2	-	1	107	c.48C>T	c.(46-48)ggC>ggT	p.G16G		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CCGTGGGGAGGCCCACCAGGA	0.567																																						ENST00000402971.2																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15						c.(46-48)ggC>ggT		olfactory receptor, family 6, subfamily B, member 2							41.0	45.0	44.0					2																	240969799		2040	4196	6236	SO:0001819	synonymous_variant	389090				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240969799G>A		CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"""GPCR / Class A : Olfactory receptors"""	15041	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 2 pseudogene"""	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.48C>T	2.37:g.240969799G>A							p.G16G	NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)	1	107	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	16					B2RPR3|Q8NGW0	Silent	SNP	ENST00000402971.2	37	c.48C>T	CCDS46559.1																																																																																				0.567	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326079.1	NM_001005853		11	31	11	31	---	---	---	---
PLD1	5337	broad.mit.edu	37	3	171362776	171362776	+	Missense_Mutation	SNP	G	G	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr3:171362776G>T	ENST00000351298.4	-	22	2593	c.2467C>A	c.(2467-2469)Ctt>Att	p.L823I	PLD1_ENST00000356327.5_Missense_Mutation_p.L785I|PLD1_ENST00000340989.4_Missense_Mutation_p.L823I|PLD1_ENST00000342215.6_3'UTR	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	823	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CCTGGCAGAAGTGGTATCACG	0.423																																					NSCLC(149;2174 3517 34058)	ENST00000356327.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(2353-2355)Ctt>Att		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						122.0	120.0	121.0					3																	171362776		2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171362776G>T	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2467C>A	3.37:g.171362776G>T	ENSP00000342793:p.Leu823Ile					PLD1_ENST00000340989.4_Missense_Mutation_p.L823I|PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Missense_Mutation_p.L823I	p.L785I	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		21	2423	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		823			Catalytic.			Missense_Mutation	SNP	ENST00000351298.4	37	c.2353C>A	CCDS3216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.23|16.23	3.065201|3.065201	0.55432|0.55432	.|.	.|.	ENSG00000075651|ENSG00000075651	ENST00000446289|ENST00000356327;ENST00000351298;ENST00000340989	.|T;T;T	.|0.27890	.|1.64;1.64;1.64	5.72|5.72	4.85|4.85	0.62838|0.62838	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.54743|0.54743	0.1877|0.1877	M|M	0.84433|0.84433	2.695|2.695	0.80722|0.80722	D|D	1|1	.|P;P;D	.|0.56521	.|0.941;0.613;0.976	.|P;P;D	.|0.65233	.|0.773;0.75;0.933	T|T	0.59064|0.59064	-0.7524|-0.7524	5|10	.|0.52906	.|T	.|0.07	-16.3211|-16.3211	9.9442|9.9442	0.41598|0.41598	0.1564:0.0:0.8436:0.0|0.1564:0.0:0.8436:0.0	.|.	.|823;808;823	.|Q13393-4;Q59EA4;Q13393	.|.;.;PLD1_HUMAN	Q|I	85|785;823;823	.|ENSP00000348681:L785I;ENSP00000342793:L823I;ENSP00000340326:L823I	.|ENSP00000340326:L823I	H|L	-|-	3|1	2|0	PLD1|PLD1	172845470|172845470	1.000000|1.000000	0.71417|0.71417	0.165000|0.165000	0.22776|0.22776	0.226000|0.226000	0.24999|0.24999	6.289000|6.289000	0.72696|0.72696	1.436000|1.436000	0.47453|0.47453	0.655000|0.655000	0.94253|0.94253	CAC|CTT		0.423	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		5	139	5	139	---	---	---	---
PRSS12	8492	broad.mit.edu	37	4	119204214	119204214	+	Missense_Mutation	SNP	G	G	C			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr4:119204214G>C	ENST00000296498.3	-	12	2374	c.2092C>G	c.(2092-2094)Ctg>Gtg	p.L698V	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	698	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TCTGGTACCAGAGTATGATAA	0.453																																						ENST00000296498.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(2092-2094)Ctg>Gtg		protease, serine, 12 (neurotrypsin, motopsin)							147.0	155.0	152.0					4																	119204214		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119204214G>C	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.2092C>G	4.37:g.119204214G>C	ENSP00000296498:p.Leu698Val					PRSS12_ENST00000510903.1_5'UTR	p.L698V	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN			12	2374	-			698			Peptidase S1.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.2092C>G	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088527	0.36855	.	.	ENSG00000164099	ENST00000296498	D	0.89123	-2.47	5.88	1.22	0.21188	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.074425	0.56097	D	0.000039	D	0.86012	0.5831	N	0.16098	0.37	0.38818	D	0.955568	D	0.76494	0.999	D	0.72075	0.976	T	0.82880	-0.0238	10	0.49607	T	0.09	.	6.5315	0.22330	0.3732:0.1156:0.5111:0.0	.	698	P56730	NETR_HUMAN	V	698	ENSP00000296498:L698V	ENSP00000296498:L698V	L	-	1	2	PRSS12	119423662	0.305000	0.24481	0.985000	0.45067	0.532000	0.34746	0.672000	0.25187	0.108000	0.17862	0.591000	0.81541	CTG		0.453	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			14	167	14	167	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155219050	155219050	+	Missense_Mutation	SNP	A	A	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr4:155219050A>G	ENST00000357232.4	-	18	5050	c.5051T>C	c.(5050-5052)tTc>tCc	p.F1684S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1684	Cadherin 14. {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)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTGGTGGCTGAAGGAAATCTT	0.443																																						ENST00000357232.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(5050-5052)tTc>tCc		dachsous cadherin-related 2							80.0	79.0	79.0					4																	155219050		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155219050A>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5051T>C	4.37:g.155219050A>G	ENSP00000349768:p.Phe1684Ser						p.F1684S	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	18	5050	-	all_hematologic(180;0.208)	Renal(120;0.0854)				Cadherin 14.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.5051T>C	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.653957	0.88056	.	.	ENSG00000197410	ENST00000357232	T	0.53857	0.6	5.82	5.82	0.92795	Cadherin (1);Cadherin-like (1);	0.000000	0.64402	D	0.000001	T	0.76083	0.3938	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80417	-0.1391	10	0.87932	D	0	.	16.1966	0.82029	1.0:0.0:0.0:0.0	.	1684	Q6V1P9	PCD23_HUMAN	S	1684	ENSP00000349768:F1684S	ENSP00000349768:F1684S	F	-	2	0	DCHS2	155438500	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.171000	0.71926	2.232000	0.73038	0.528000	0.53228	TTC		0.443	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		14	27	14	27	---	---	---	---
ADAMTS6	11174	broad.mit.edu	37	5	64766898	64766898	+	Missense_Mutation	SNP	G	G	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr5:64766898G>T	ENST00000536360.1	-	3	982	c.169C>A	c.(169-171)Ctc>Atc	p.L57I				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	57						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GTAAAGCTGAGAAATGCTCCA	0.378																																						ENST00000536360.1																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18						c.(169-171)Ctc>Atc		ADAM metallopeptidase with thrombospondin type 1 motif, 6							83.0	83.0	83.0					5																	64766898		2203	4299	6502	SO:0001583	missense	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64766898G>T	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.169C>A	5.37:g.64766898G>T	ENSP00000440995:p.Leu57Ile						p.L57I			Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	3	982	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	57					Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	ENST00000536360.1	37	c.169C>A		.	.	.	.	.	.	.	.	.	.	G	17.16	3.318913	0.60524	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680;ENST00000536360	T;T;T	0.06933	3.24;3.24;3.24	5.53	5.53	0.82687	Peptidase M12B, propeptide (1);	0.119197	0.64402	D	0.000015	T	0.15305	0.0369	L	0.52266	1.64	0.45076	D	0.998092	B	0.20988	0.05	B	0.39617	0.305	T	0.05920	-1.0856	10	0.36615	T	0.2	.	15.3206	0.74117	0.0:0.1394:0.8606:0.0	.	57	Q9UKP5	ATS6_HUMAN	I	57	ENSP00000370443:L57I;ENSP00000423551:L57I;ENSP00000440995:L57I	ENSP00000261306:L57I	L	-	1	0	ADAMTS6	64802654	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.631000	0.61304	2.769000	0.95229	0.478000	0.44815	CTC		0.378	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941		9	50	9	50	---	---	---	---
SRP19	6728	broad.mit.edu	37	5	112198210	112198210	+	Missense_Mutation	SNP	T	T	C			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr5:112198210T>C	ENST00000505459.1	+	2	202	c.47T>C	c.(46-48)aTt>aCt	p.I16T	SRP19_ENST00000515463.1_Intron|CTC-487M23.8_ENST00000512790.1_3'UTR|CTC-554D6.1_ENST00000520401.1_Silent_p.Y87Y|SRP19_ENST00000282999.3_Missense_Mutation_p.I16T|CTC-487M23.8_ENST00000506997.1_Missense_Mutation_p.I16T	NM_001204193.1|NM_003135.2	NP_001191122.1|NP_003126.1	P09132	SRP19_HUMAN	signal recognition particle 19kDa	16					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|large_intestine(1)	3		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		GGCAGGTTTATTTGTATCTAT	0.458																																						ENST00000505459.1																			0				breast(1)|cervix(1)|large_intestine(1)	3						c.(46-48)aTt>aCt		signal recognition particle 19kDa							56.0	57.0	56.0					5																	112198210		2202	4300	6502	SO:0001583	missense	6728				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding	g.chr5:112198210T>C		CCDS4108.1, CCDS56375.1, CCDS56376.1, CCDS75286.1	5q21-q22	2008-07-18	2002-08-29		ENSG00000153037	ENSG00000153037			11300	protein-coding gene	gene with protein product		182175	"""signal recognition particle 19kD"""			2460823	Standard	NM_003135		Approved		uc011cvu.2	P09132	OTTHUMG00000128805	ENST00000505459.1:c.47T>C	5.37:g.112198210T>C	ENSP00000424870:p.Ile16Thr					CTC-554D6.1_ENST00000520401.1_Silent_p.Y87Y|CTC-487M23.8_ENST00000506997.1_Missense_Mutation_p.I16T|SRP19_ENST00000282999.3_Missense_Mutation_p.I16T|SRP19_ENST00000515463.1_Intron|CTC-487M23.8_ENST00000512790.1_3'UTR	p.I16T	NM_001204193.1|NM_003135.2	NP_001191122.1|NP_003126.1	P09132	SRP19_HUMAN		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)	2	202	+		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)	16					B2R4E9|D6RCQ5|Q05D77|Q96FG6	Missense_Mutation	SNP	ENST00000505459.1	37	c.47T>C	CCDS4108.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.595264	0.86953	.	.	ENSG00000153037	ENST00000505459;ENST00000282999	T;T	0.45276	0.9;0.93	5.37	5.37	0.77165	.	0.281066	0.37483	N	0.002071	T	0.58991	0.2161	M	0.68593	2.085	0.80722	D	1	D;B	0.69078	0.997;0.421	D;B	0.67900	0.954;0.436	T	0.56601	-0.7952	10	0.30078	T	0.28	-6.6918	13.1931	0.59722	0.0:0.0:0.0:1.0	.	16;16	P09132;Q05D77	SRP19_HUMAN;.	T	16	ENSP00000424870:I16T;ENSP00000282999:I16T	ENSP00000282999:I16T	I	+	2	0	SRP19	112226109	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	6.340000	0.72973	2.164000	0.68074	0.533000	0.62120	ATT		0.458	SRP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250737.3	NM_003135		5	19	5	19	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150908872	150908872	+	Missense_Mutation	SNP	G	G	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr5:150908872G>T	ENST00000261800.5	-	14	9905	c.9893C>A	c.(9892-9894)tCc>tAc	p.S3298Y		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3298	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.|Poly-Ser.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGGGAAGAGGAGCTCTTCCG	0.512																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(9892-9894)tCc>tAc		FAT atypical cadherin 2							152.0	140.0	144.0					5																	150908872		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150908872G>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.9893C>A	5.37:g.150908872G>T	ENSP00000261800:p.Ser3298Tyr						p.S3298Y	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		14	9905	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3298			Cadherin 29.|Poly-Ser.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.9893C>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171872	0.78452	.	.	ENSG00000086570	ENST00000261800	T	0.55413	0.52	5.78	5.78	0.91487	Cadherin (4);Cadherin-like (1);	0.188965	0.38164	N	0.001787	T	0.74199	0.3685	M	0.76838	2.35	0.39541	D	0.968821	D	0.69078	0.997	D	0.69824	0.966	T	0.74147	-0.3759	10	0.44086	T	0.13	.	20.0222	0.97508	0.0:0.0:1.0:0.0	.	3298	Q9NYQ8	FAT2_HUMAN	Y	3298	ENSP00000261800:S3298Y	ENSP00000261800:S3298Y	S	-	2	0	FAT2	150889065	0.988000	0.35896	1.000000	0.80357	0.972000	0.66771	5.374000	0.66167	2.732000	0.93576	0.637000	0.83480	TCC		0.512	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		39	68	39	68	---	---	---	---
PGBD1	84547	broad.mit.edu	37	6	28269439	28269439	+	Missense_Mutation	SNP	G	G	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr6:28269439G>T	ENST00000405948.2	+	7	2228	c.1808G>T	c.(1807-1809)gGt>gTt	p.G603V	PGBD1_ENST00000259883.3_Missense_Mutation_p.G603V	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	603						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CTTGGGTTAGGTGGAAATCTA	0.403																																						ENST00000405948.2																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1807-1809)gGt>gTt		piggyBac transposable element derived 1							148.0	147.0	148.0					6																	28269439		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28269439G>T	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1808G>T	6.37:g.28269439G>T	ENSP00000385213:p.Gly603Val					PGBD1_ENST00000259883.3_Missense_Mutation_p.G603V	p.G603V	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN			7	2228	+			603					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.1808G>T	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240000	0.58995	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.17854	2.25;2.25	4.66	4.66	0.58398	.	0.102557	0.34386	N	0.004012	T	0.30293	0.0760	M	0.66939	2.045	0.53688	D	0.999971	D	0.76494	0.999	D	0.81914	0.995	T	0.01972	-1.1237	10	0.87932	D	0	-9.8625	13.256	0.60079	0.0:0.0:1.0:0.0	.	603	Q96JS3	PGBD1_HUMAN	V	603	ENSP00000385213:G603V;ENSP00000259883:G603V	ENSP00000259883:G603V	G	+	2	0	PGBD1	28377418	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.268000	0.65536	2.581000	0.87130	0.655000	0.94253	GGT		0.403	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			43	76	43	76	---	---	---	---
GPR116	221395	broad.mit.edu	37	6	46826111	46826111	+	Missense_Mutation	SNP	T	T	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr6:46826111T>A	ENST00000283296.7	-	17	3817	c.3529A>T	c.(3529-3531)Atc>Ttc	p.I1177F	GPR116_ENST00000265417.7_Missense_Mutation_p.I1177F|GPR116_ENST00000545669.1_Missense_Mutation_p.I606F|GPR116_ENST00000362015.4_Missense_Mutation_p.I1177F|GPR116_ENST00000456426.2_Missense_Mutation_p.I1035F	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1177					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGTGCTGGGATGGCGAAAGCC	0.547																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(3529-3531)Atc>Ttc		G protein-coupled receptor 116							67.0	60.0	62.0					6																	46826111		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826111T>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3529A>T	6.37:g.46826111T>A	ENSP00000283296:p.Ile1177Phe					GPR116_ENST00000456426.2_Missense_Mutation_p.I1035F|GPR116_ENST00000362015.4_Missense_Mutation_p.I1177F|GPR116_ENST00000545669.1_Missense_Mutation_p.I606F|GPR116_ENST00000265417.7_Missense_Mutation_p.I1177F	p.I1177F	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	3817	-			1177					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.3529A>T	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.619085	0.28801	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.38	2.99	0.34606	GPCR, family 2-like (1);	0.094859	0.45126	D	0.000390	T	0.49881	0.1583	M	0.78637	2.42	0.51767	D	0.999936	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.989;0.992;1.0;0.994;1.0	T	0.53143	-0.8480	10	0.59425	D	0.04	-22.5942	8.2989	0.32001	0.0:0.215:0.0:0.785	.	606;732;1177;1035;1177	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	F	1177;1177;1177;1035;548;1177;606	ENSP00000283296:I1177F;ENSP00000354563:I1177F;ENSP00000412866:I1035F;ENSP00000265417:I1177F;ENSP00000441581:I606F	ENSP00000265417:I1177F	I	-	1	0	GPR116	46934070	0.988000	0.35896	0.521000	0.27850	0.203000	0.24098	0.795000	0.26972	0.440000	0.26502	-0.911000	0.02809	ATC		0.547	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		5	80	5	80	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98522824	98522824	+	Silent	SNP	G	G	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr7:98522824G>T	ENST00000359863.4	+	22	3122	c.2913G>T	c.(2911-2913)ctG>ctT	p.L971L	TRRAP_ENST00000446306.3_Silent_p.L970L|TRRAP_ENST00000355540.3_Silent_p.L971L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	971					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AATGCTTCCTGGTGGCCATGA	0.562																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(2911-2913)ctG>ctT		transformation/transcription domain-associated protein							171.0	137.0	148.0					7																	98522824		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98522824G>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.2913G>T	7.37:g.98522824G>T						TRRAP_ENST00000355540.3_Silent_p.L971L|TRRAP_ENST00000446306.3_Silent_p.L970L	p.L971L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		22	3122	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		971					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.2913G>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239646	0.22711	.	.	ENSG00000196367	ENST00000456197	.	.	.	6.17	4.36	0.52297	.	.	.	.	.	T	0.63462	0.2513	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60500	-0.7251	4	.	.	.	.	12.2011	0.54326	0.0614:0.2256:0.713:0.0	.	.	.	.	L	686	.	.	W	+	2	0	TRRAP	98360760	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.878000	0.56130	0.925000	0.37094	-0.165000	0.13383	TGG		0.562	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		70	67	70	67	---	---	---	---
ZKSCAN1	7586	broad.mit.edu	37	7	99621804	99621804	+	Missense_Mutation	SNP	A	A	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr7:99621804A>G	ENST00000324306.6	+	3	688	c.454A>G	c.(454-456)Atg>Gtg	p.M152V	ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.M116V|ZKSCAN1_ENST00000535170.1_Intron	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	152					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TGGACCTGAGATGCTCGCAAG	0.488																																						ENST00000324306.6																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(454-456)Atg>Gtg		zinc finger with KRAB and SCAN domains 1							93.0	83.0	86.0					7																	99621804		2203	4300	6503	SO:0001583	missense	7586				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99621804A>G	X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13101	protein-coding gene	gene with protein product		601260	"""zinc finger protein 36 (KOX 18)"""	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.454A>G	7.37:g.99621804A>G	ENSP00000323148:p.Met152Val					ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.M116V|ZKSCAN1_ENST00000535170.1_Intron	p.M152V	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		3	688	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		152					A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	ENST00000324306.6	37	c.454A>G	CCDS34698.1	.	.	.	.	.	.	.	.	.	.	A	4.583	0.108398	0.08780	.	.	ENSG00000106261	ENST00000324306;ENST00000426572	T;T	0.04406	3.69;3.63	4.69	4.69	0.59074	Transcription regulator SCAN (1);	0.000000	0.64402	D	0.000009	T	0.02649	0.0080	N	0.08118	0	0.80722	D	1	B;P	0.34864	0.323;0.473	B;B	0.38194	0.267;0.174	T	0.43130	-0.9410	10	0.02654	T	1	.	10.4569	0.44557	1.0:0.0:0.0:0.0	.	152;116	P17029;E9PC66	ZKSC1_HUMAN;.	V	152;116	ENSP00000323148:M152V;ENSP00000409172:M116V	ENSP00000323148:M152V	M	+	1	0	ZKSCAN1	99459740	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.821000	0.48065	1.971000	0.57363	0.402000	0.26972	ATG		0.488	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		4	109	4	109	---	---	---	---
LAMB1	3912	broad.mit.edu	37	7	107642017	107642017	+	Missense_Mutation	SNP	C	C	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr7:107642017C>T	ENST00000222399.6	-	3	429	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	LAMB1_ENST00000393560.1_Missense_Mutation_p.V67I|U3_ENST00000458938.1_RNA|LAMB1_ENST00000393561.1_Missense_Mutation_p.V91I	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	67	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AAGTGGCTGACGATACAGTAG	0.652																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(271-273)Gtc>Atc		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						23.0	24.0	23.0					7																	107642017		2202	4300	6502	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107642017C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.199G>A	7.37:g.107642017C>T	ENSP00000222399:p.Val67Ile					LAMB1_ENST00000393560.1_Missense_Mutation_p.V67I|LAMB1_ENST00000222399.6_Missense_Mutation_p.V67I	p.V91I			P07942	LAMB1_HUMAN			1	455	-			67			Laminin N-terminal.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.271G>A	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	35	5.455260	0.96223	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560;ENST00000439976;ENST00000393559	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	5.19	5.19	0.71726	Laminin, N-terminal (3);	.	.	.	.	D	0.85843	0.5791	M	0.77616	2.38	0.80722	D	1	D;P;D;P	0.76494	0.999;0.688;0.969;0.794	D;B;P;B	0.64687	0.928;0.217;0.665;0.185	D	0.86836	0.2014	9	0.56958	D	0.05	.	18.6625	0.91475	0.0:1.0:0.0:0.0	.	153;67;67;91	C9J296;E7EPA6;P07942;G3XAI2	.;.;LAMB1_HUMAN;.	I	91;67;67;153;67	ENSP00000377191:V91I;ENSP00000222399:V67I;ENSP00000377190:V67I;ENSP00000412686:V153I;ENSP00000377189:V67I	ENSP00000222399:V67I	V	-	1	0	LAMB1	107429253	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	7.423000	0.80229	2.568000	0.86640	0.462000	0.41574	GTC		0.652	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		4	28	4	28	---	---	---	---
EXOC4	60412	broad.mit.edu	37	7	133160106	133160106	+	Missense_Mutation	SNP	A	A	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr7:133160106A>G	ENST00000253861.4	+	8	1236	c.1207A>G	c.(1207-1209)Atg>Gtg	p.M403V	EXOC4_ENST00000539845.1_Missense_Mutation_p.M302V|EXOC4_ENST00000393161.2_Missense_Mutation_p.M403V	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	403					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTACTTGGATATGAAAAATAC	0.358																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(1207-1209)Atg>Gtg		exocyst complex component 4							102.0	105.0	104.0					7																	133160106		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133160106A>G	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1207A>G	7.37:g.133160106A>G	ENSP00000253861:p.Met403Val					EXOC4_ENST00000393161.2_Missense_Mutation_p.M403V|EXOC4_ENST00000539845.1_Missense_Mutation_p.M302V	p.M403V	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			8	1236	+		Esophageal squamous(399;0.129)	403					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.1207A>G	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	A	10.10	1.256402	0.22965	.	.	ENSG00000131558	ENST00000253861;ENST00000393161;ENST00000546185;ENST00000539845	.	.	.	5.34	5.34	0.76211	.	0.051466	0.85682	D	0.000000	T	0.35828	0.0945	N	0.04508	-0.205	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16689	-1.0394	9	0.26408	T	0.33	.	14.9773	0.71283	1.0:0.0:0.0:0.0	.	403;403	Q96A65;Q8TAR2	EXOC4_HUMAN;.	V	403;403;22;302	.	ENSP00000253861:M403V	M	+	1	0	EXOC4	132810646	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.299000	0.72770	2.011000	0.59026	0.455000	0.32223	ATG		0.358	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		117	104	117	104	---	---	---	---
GTF2E2	2961	broad.mit.edu	37	8	30472224	30472224	+	Silent	SNP	A	A	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr8:30472224A>G	ENST00000355904.4	-	4	549	c.267T>C	c.(265-267)caT>caC	p.H89H	GTF2E2_ENST00000522833.1_5'Flank	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	89					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		CTCCTCGCTGATGCCGTGTCT	0.358																																						ENST00000355904.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(265-267)caT>caC		general transcription factor IIE, polypeptide 2, beta 34kDa							146.0	126.0	133.0					8																	30472224		2203	4300	6503	SO:0001819	synonymous_variant	2961				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding	g.chr8:30472224A>G	BC030572	CCDS6078.1	8p12	2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265		"""General transcription factors"""	4651	protein-coding gene	gene with protein product		189964	"""general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"""			1956404	Standard	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	P29084	OTTHUMG00000163934	ENST00000355904.4:c.267T>C	8.37:g.30472224A>G							p.H89H	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)	4	549	-			89					D3DSV2|Q9H2B9	Silent	SNP	ENST00000355904.4	37	c.267T>C	CCDS6078.1																																																																																				0.358	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376459.2	NM_002095		13	25	13	25	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77767002	77767002	+	Silent	SNP	A	A	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr8:77767002A>G	ENST00000521891.2	+	10	8293	c.7845A>G	c.(7843-7845)gaA>gaG	p.E2615E	ZFHX4_ENST00000455469.2_Silent_p.E2570E|ZFHX4_ENST00000050961.6_Silent_p.E2570E|ZFHX4_ENST00000518282.1_Silent_p.E2589E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2570					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCACCCCGGAACAGCTGGAAA	0.433										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(7843-7845)gaA>gaG		zinc finger homeobox 4							43.0	42.0	42.0					8																	77767002		1871	4096	5967	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767002A>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7845A>G	8.37:g.77767002A>G		HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Silent_p.E2589E|ZFHX4_ENST00000455469.2_Silent_p.E2570E|ZFHX4_ENST00000050961.6_Silent_p.E2570E	p.E2615E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8293	+			2570					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.7845A>G	CCDS47878.2																																																																																				0.433	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		12	34	12	34	---	---	---	---
NR6A1	2649	broad.mit.edu	37	9	127289153	127289153	+	Missense_Mutation	SNP	A	A	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr9:127289153A>G	ENST00000487099.2	-	8	1263	c.1106T>C	c.(1105-1107)aTc>aCc	p.I369T	NR6A1_ENST00000344523.4_Missense_Mutation_p.I368T|NR6A1_ENST00000373584.3_Missense_Mutation_p.I365T|NR6A1_ENST00000416460.2_Missense_Mutation_p.I364T	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	369					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GAGCCGCTCGATCACCTCCAT	0.488																																					Esophageal Squamous(192;272 2884 6208 20560)	ENST00000487099.2																			0				NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						c.(1105-1107)aTc>aCc		nuclear receptor subfamily 6, group A, member 1							139.0	115.0	123.0					9																	127289153		2203	4300	6503	SO:0001583	missense	2649				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:127289153A>G	U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"""Nuclear hormone receptors"""	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.1106T>C	9.37:g.127289153A>G	ENSP00000420267:p.Ile369Thr					NR6A1_ENST00000373584.3_Missense_Mutation_p.I365T|NR6A1_ENST00000344523.4_Missense_Mutation_p.I368T|NR6A1_ENST00000416460.2_Missense_Mutation_p.I364T	p.I369T	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN			8	1263	-			369					O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Missense_Mutation	SNP	ENST00000487099.2	37	c.1106T>C	CCDS35137.1	.	.	.	.	.	.	.	.	.	.	A	16.82	3.227582	0.58668	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523	D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45	5.15	5.15	0.70609	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.041356	0.85682	D	0.000000	D	0.95082	0.8407	L	0.36672	1.1	0.44129	D	0.996912	B;P;B	0.34699	0.183;0.464;0.009	B;B;B	0.39465	0.131;0.3;0.013	D	0.95141	0.8264	10	0.66056	D	0.02	.	14.4633	0.67467	1.0:0.0:0.0:0.0	.	365;369;364	F1DAM1;Q15406;Q15406-5	.;NR6A1_HUMAN;.	T	369;365;364;368	ENSP00000420267:I369T;ENSP00000362686:I365T;ENSP00000413701:I364T;ENSP00000341135:I368T	ENSP00000341135:I368T	I	-	2	0	NR6A1	126328974	1.000000	0.71417	0.949000	0.38748	0.982000	0.71751	8.687000	0.91255	2.060000	0.61445	0.533000	0.62120	ATC		0.488	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4			19	28	19	28	---	---	---	---
SPAG6	9576	broad.mit.edu	37	10	22634710	22634710	+	Silent	SNP	G	G	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr10:22634710G>A	ENST00000376624.3	+	2	226	c.84G>A	c.(82-84)gcG>gcA	p.A28A	SPAG6_ENST00000538630.1_5'UTR|SPAG6_ENST00000376601.1_Silent_p.A28A|SPAG6_ENST00000376603.2_Silent_p.A28A|SPAG6_ENST00000313311.6_Silent_p.A28A	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	28					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CGGAGCTGGCGACTAGACCCC	0.687																																						ENST00000376603.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						c.(82-84)gcG>gcA		sperm associated antigen 6							45.0	41.0	43.0					10																	22634710		2203	4299	6502	SO:0001819	synonymous_variant	9576				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	g.chr10:22634710G>A	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.84G>A	10.37:g.22634710G>A						SPAG6_ENST00000538630.1_5'UTR|SPAG6_ENST00000376601.1_Silent_p.A28A|SPAG6_ENST00000376624.3_Silent_p.A28A|SPAG6_ENST00000313311.6_Silent_p.A28A	p.A28A			O75602	SPAG6_HUMAN			2	226	+			28					A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Silent	SNP	ENST00000376624.3	37	c.84G>A	CCDS7139.1																																																																																				0.687	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			4	14	4	14	---	---	---	---
B4GALNT4	338707	broad.mit.edu	37	11	373292	373292	+	Splice_Site	SNP	G	G	C			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:373292G>C	ENST00000329962.6	+	6	636		c.e6+1			NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4						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)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGGGCAAGGTACCCCCACC	0.627																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.e6+1		beta-1,4-N-acetyl-galactosaminyl transferase 4							47.0	46.0	46.0					11																	373292		2194	4294	6488	SO:0001630	splice_region_variant	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:373292G>C	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.636+1G>C	11.37:g.373292G>C								NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	636	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)						Q96LV2	Splice_Site	SNP	ENST00000329962.6	37		CCDS7694.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781945	0.70222	.	.	ENSG00000182272	ENST00000329962	.	.	.	3.83	3.83	0.44106	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4344	0.83871	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	B4GALNT4	363292	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	6.709000	0.74665	2.164000	0.68074	0.472000	0.43445	.		0.627	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537	Intron	6	12	6	12	---	---	---	---
B4GALNT4	338707	broad.mit.edu	37	11	379668	379668	+	Missense_Mutation	SNP	C	C	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:379668C>T	ENST00000329962.6	+	15	2455	c.2455C>T	c.(2455-2457)Cgc>Tgc	p.R819C		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	819					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)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTGGCCTGGCGCCAGGACGT	0.687																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(2455-2457)Cgc>Tgc		beta-1,4-N-acetyl-galactosaminyl transferase 4							6.0	7.0	7.0					11																	379668		2039	4105	6144	SO:0001583	missense	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:379668C>T	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2455C>T	11.37:g.379668C>T	ENSP00000328277:p.Arg819Cys						p.R819C	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	15	2455	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	819					Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	c.2455C>T	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	c	18.82	3.704889	0.68615	.	.	ENSG00000182272	ENST00000329962	T	0.15952	2.38	3.61	3.61	0.41365	.	0.261873	0.31784	N	0.007061	T	0.33089	0.0851	L	0.59436	1.845	0.48571	D	0.999677	D	0.71674	0.998	D	0.75020	0.985	T	0.03121	-1.1070	10	0.56958	D	0.05	-22.6204	9.3009	0.37845	0.3749:0.6251:0.0:0.0	.	819	Q76KP1	B4GN4_HUMAN	C	819	ENSP00000328277:R819C	ENSP00000328277:R819C	R	+	1	0	B4GALNT4	369668	0.932000	0.31603	1.000000	0.80357	0.996000	0.88848	0.689000	0.25437	2.022000	0.59522	0.555000	0.69702	CGC		0.687	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		3	10	3	10	---	---	---	---
TRIM22	10346	broad.mit.edu	37	11	5718478	5718478	+	Splice_Site	SNP	G	G	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:5718478G>A	ENST00000379965.3	+	3	701	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	142					defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TTTCTTACAGGAAAAGCTGCA	0.458											OREG0003730	type=REGULATORY REGION|Gene=TRIM22|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									GBM(104;491 2336 5222)	ENST00000379965.3																			0				kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23						c.(424-426)Gaa>Aaa		tripartite motif containing 22							29.0	31.0	31.0					11																	5718478		1833	4119	5952	SO:0001630	splice_region_variant	10346				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr11:5718478G>A	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.424-1G>A	11.37:g.5718478G>A			OREG0003730	type=REGULATORY REGION|Gene=TRIM22|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	628	TRIM5_ENST00000380027.1_Intron	p.E142K	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	3	701	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	142					Q05CQ0|Q15521	Splice_Site	SNP	ENST00000379965.3	37	c.424G>A	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828869	0.32329	.	.	ENSG00000132274	ENST00000379965;ENST00000425490;ENST00000414641	T;T;T	0.57436	0.4;0.4;0.4	4.2	1.18	0.20946	.	.	.	.	.	T	0.56396	0.1982	L	0.48935	1.535	0.26094	N	0.980911	P;P	0.45594	0.862;0.561	P;P	0.56788	0.806;0.46	T	0.45527	-0.9255	8	.	.	.	.	7.0624	0.25133	0.3154:0.0:0.6846:0.0	.	142;142	Q8IYM9-2;Q8IYM9	.;TRI22_HUMAN	K	142	ENSP00000369299:E142K;ENSP00000400417:E142K;ENSP00000396849:E142K	.	E	+	1	0	TRIM22	5675054	0.862000	0.29867	0.606000	0.28943	0.118000	0.20060	0.980000	0.29513	0.140000	0.18849	0.467000	0.42956	GAA		0.458	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074	Missense_Mutation	7	13	7	13	---	---	---	---
GAL3ST3	89792	broad.mit.edu	37	11	65810951	65810951	+	Missense_Mutation	SNP	G	G	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:65810951G>T	ENST00000312006.4	-	3	604	c.323C>A	c.(322-324)cCc>cAc	p.P108H	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.P108H	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	108					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GAAGTTGCGGGGGTAGCAGAA	0.692																																						ENST00000312006.4																			0				kidney(1)|lung(9)|ovary(2)|skin(2)	14						c.(322-324)cCc>cAc		galactose-3-O-sulfotransferase 3							23.0	23.0	23.0					11																	65810951		2201	4290	6491	SO:0001583	missense	89792				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr11:65810951G>T	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.323C>A	11.37:g.65810951G>T	ENSP00000308591:p.Pro108His					GAL3ST3_ENST00000527878.1_Missense_Mutation_p.P108H	p.P108H	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN			3	604	-			108					Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	c.323C>A	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269151	0.80469	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	T;T	0.32023	1.47;1.47	4.49	4.49	0.54785	.	0.000000	0.64402	D	0.000001	T	0.59932	0.2230	M	0.87617	2.895	0.58432	D	0.999992	D	0.89917	1.0	D	0.74674	0.984	T	0.67968	-0.5533	10	0.62326	D	0.03	-35.161	15.0675	0.72008	0.0:0.0:1.0:0.0	.	108	Q96A11	G3ST3_HUMAN	H	108	ENSP00000308591:P108H;ENSP00000434829:P108H	ENSP00000308591:P108H	P	-	2	0	GAL3ST3	65567527	1.000000	0.71417	0.995000	0.50966	0.960000	0.62799	9.772000	0.98984	2.213000	0.71641	0.462000	0.41574	CCC		0.692	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		11	65	11	65	---	---	---	---
P4HA3	283208	broad.mit.edu	37	11	74013632	74013632	+	Missense_Mutation	SNP	T	T	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:74013632T>G	ENST00000331597.4	-	3	394	c.349A>C	c.(349-351)Aag>Cag	p.K117Q	P4HA3_ENST00000427714.2_Missense_Mutation_p.K117Q	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	117						endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					TAGCCATCCTTCAGAGCTGTA	0.463																																						ENST00000331597.4																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15						c.(349-351)Aag>Cag		prolyl 4-hydroxylase, alpha polypeptide III							71.0	67.0	69.0					11																	74013632		2200	4293	6493	SO:0001583	missense	283208					endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr11:74013632T>G	AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(III)"""	608987	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"""			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.349A>C	11.37:g.74013632T>G	ENSP00000332170:p.Lys117Gln					P4HA3_ENST00000427714.2_Missense_Mutation_p.K117Q	p.K117Q	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN			3	394	-	Breast(11;2.31e-05)		117					A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Missense_Mutation	SNP	ENST00000331597.4	37	c.349A>C	CCDS8230.1	.	.	.	.	.	.	.	.	.	.	T	12.61	1.988178	0.35036	.	.	ENSG00000149380	ENST00000331597;ENST00000427714	T;T	0.55930	0.51;0.49	4.96	4.96	0.65561	Prolyl 4-hydroxylase alpha-subunit, N-terminal (1);	0.049163	0.85682	D	0.000000	T	0.60766	0.2294	L	0.43152	1.355	0.38461	D	0.947222	D;B	0.71674	0.998;0.302	D;B	0.69824	0.966;0.229	T	0.57717	-0.7763	10	0.18276	T	0.48	-29.2261	12.8993	0.58117	0.0:0.0:0.0:1.0	.	117;117	B4DUD3;Q7Z4N8	.;P4HA3_HUMAN	Q	117	ENSP00000332170:K117Q;ENSP00000401749:K117Q	ENSP00000332170:K117Q	K	-	1	0	P4HA3	73691280	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.087000	0.64480	2.201000	0.70794	0.460000	0.39030	AAG		0.463	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904		5	79	5	79	---	---	---	---
OPCML	4978	broad.mit.edu	37	11	132305999	132305999	+	Missense_Mutation	SNP	A	A	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:132305999A>T	ENST00000331898.7	-	6	1496	c.918T>A	c.(916-918)aaT>aaA	p.N306K	OPCML_ENST00000374778.4_Missense_Mutation_p.N265K|OPCML_ENST00000541867.1_Missense_Mutation_p.N306K|OPCML_ENST00000524381.1_Missense_Mutation_p.N299K|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	306	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TGATGCTGGCATTGGTGTTCC	0.493																																						ENST00000331898.7																			0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(916-918)aaT>aaA		opioid binding protein/cell adhesion molecule-like							120.0	103.0	108.0					11																	132305999		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132305999A>T	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.918T>A	11.37:g.132305999A>T	ENSP00000330862:p.Asn306Lys					OPCML_ENST00000524381.1_Missense_Mutation_p.N299K|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Missense_Mutation_p.N265K|OPCML_ENST00000541867.1_Missense_Mutation_p.N306K	p.N306K	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	6	1496	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	306			Ig-like C2-type 3.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.918T>A	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	A	18.81	3.703108	0.68501	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.91	-2.63	0.06133	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71281	0.3321	L	0.58969	1.84	0.50813	D	0.99989	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.997;0.997	T	0.71984	-0.4427	10	0.87932	D	0	-28.9798	13.3779	0.60750	0.5157:0.0:0.4843:0.0	.	306;299;305;306	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	K	306;299;265;273;306	ENSP00000330862:N306K;ENSP00000434750:N299K;ENSP00000363910:N265K;ENSP00000445496:N306K	ENSP00000330862:N306K	N	-	3	2	OPCML	131811209	0.684000	0.27642	0.990000	0.47175	0.984000	0.73092	0.021000	0.13489	-0.441000	0.07201	-1.305000	0.01319	AAT		0.493	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		15	16	15	16	---	---	---	---
KIAA1551	55196	broad.mit.edu	37	12	32138464	32138464	+	Missense_Mutation	SNP	G	G	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr12:32138464G>T	ENST00000312561.4	+	4	4989	c.4575G>T	c.(4573-4575)caG>caT	p.Q1525H	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1525																	ACCATTCTCAGGAGTCTAAAA	0.363																																						ENST00000312561.4																			0											c.(4573-4575)caG>caT		KIAA1551							56.0	56.0	56.0					12																	32138464		2203	4300	6503	SO:0001583	missense	55196							g.chr12:32138464G>T	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.4575G>T	12.37:g.32138464G>T	ENSP00000310338:p.Gln1525His					KIAA1551_ENST00000535596.1_Intron	p.Q1525H	NM_018169.3	NP_060639					4	4989	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.4575G>T	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	4.792	0.147283	0.09134	.	.	ENSG00000174718	ENST00000312561	T	0.11604	2.76	5.33	0.825	0.18824	.	0.797600	0.11389	N	0.569020	T	0.04861	0.0131	N	0.08118	0	0.09310	N	1	B	0.33448	0.412	B	0.35073	0.195	T	0.43032	-0.9416	9	.	.	.	.	4.372	0.11253	0.4854:0.1721:0.3425:0.0	.	1525	Q9HCM1	CL035_HUMAN	H	1525	ENSP00000310338:Q1525H	.	Q	+	3	2	C12orf35	32029731	0.036000	0.19791	0.141000	0.22245	0.245000	0.25701	0.317000	0.19487	0.232000	0.21100	-0.262000	0.10625	CAG		0.363	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		17	27	17	27	---	---	---	---
ANKRD13A	88455	broad.mit.edu	37	12	110456956	110456956	+	Missense_Mutation	SNP	A	A	C	rs373926911		TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr12:110456956A>C	ENST00000261739.4	+	6	723	c.557A>C	c.(556-558)gAg>gCg	p.E186A	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	186						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						AACTGGGCGGAGTTAATGGAA	0.423																																						ENST00000261739.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						c.(556-558)gAg>gCg		ankyrin repeat domain 13A							136.0	141.0	139.0					12																	110456956		2203	4300	6503	SO:0001583	missense	88455							g.chr12:110456956A>C	AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"""Ankyrin repeat domain containing"""	21268	protein-coding gene	gene with protein product		615123	"""ankyrin repeat domain 13"""	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.557A>C	12.37:g.110456956A>C	ENSP00000261739:p.Glu186Ala					ANKRD13A_ENST00000550404.1_3'UTR	p.E186A	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN			6	723	+			186					O60736	Missense_Mutation	SNP	ENST00000261739.4	37	c.557A>C	CCDS9140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.505|8.505	0.865240|0.865240	0.17250|0.17250	.|.	.|.	ENSG00000076513|ENSG00000076513	ENST00000261739|ENST00000547639	T|.	0.44083|.	0.93|.	5.92|5.92	4.77|4.77	0.60923|0.60923	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72137|0.72137	0.3423|0.3423	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D;P;D|.	0.76494|.	0.999;0.63;0.999|.	D;B;D|.	0.85130|.	0.997;0.389;0.997|.	T|T	0.71810|0.71810	-0.4480|-0.4480	10|5	0.14252|.	T|.	0.57|.	-32.3992|-32.3992	11.8004|11.8004	0.52124|0.52124	0.8685:0.0:0.0:0.1315|0.8685:0.0:0.0:0.1315	.|.	186;186;186|.	B4DYP5;Q3ZTS7;Q8IZ07|.	.;.;AN13A_HUMAN|.	A|R	186|40	ENSP00000261739:E186A|.	ENSP00000261739:E186A|.	E|S	+|+	2|1	0|0	ANKRD13A|ANKRD13A	108941339|108941339	1.000000|1.000000	0.71417|0.71417	0.347000|0.347000	0.25668|0.25668	0.189000|0.189000	0.23516|0.23516	5.947000|5.947000	0.70242|0.70242	1.047000|1.047000	0.40274|0.40274	0.533000|0.533000	0.62120|0.62120	GAG|AGT		0.423	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121		48	90	48	90	---	---	---	---
ZNF770	54989	broad.mit.edu	37	15	35275466	35275466	+	Missense_Mutation	SNP	C	C	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr15:35275466C>A	ENST00000356321.4	-	3	514	c.170G>T	c.(169-171)tGt>tTt	p.C57F		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	57					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		ACACACATCACATTCAAATGG	0.358																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(169-171)tGt>tTt		zinc finger protein 770							78.0	75.0	76.0					15																	35275466		2201	4295	6496	SO:0001583	missense	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35275466C>A	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.170G>T	15.37:g.35275466C>A	ENSP00000348673:p.Cys57Phe						p.C57F	NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	514	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	57					Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	c.170G>T	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.213409	0.58452	.	.	ENSG00000198146	ENST00000356321	D	0.85088	-1.94	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95175	0.8436	H	0.96576	3.845	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	D	0.96668	0.9494	10	0.87932	D	0	-7.1698	17.5011	0.87732	0.0:1.0:0.0:0.0	.	57	Q6IQ21	ZN770_HUMAN	F	57	ENSP00000348673:C57F	ENSP00000348673:C57F	C	-	2	0	ZNF770	33062758	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.530000	0.81962	2.596000	0.87737	0.655000	0.94253	TGT		0.358	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		41	54	41	54	---	---	---	---
CA12	771	broad.mit.edu	37	15	63638797	63638797	+	Missense_Mutation	SNP	G	G	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr15:63638797G>T	ENST00000178638.3	-	3	658	c.218C>A	c.(217-219)cCc>cAc	p.P73H	CA12_ENST00000422263.2_Intron|CA12_ENST00000344366.3_Missense_Mutation_p.P73H	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	73					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	GAACTCGAGGGGCGTGAGGCT	0.572																																						ENST00000178638.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16						c.(217-219)cCc>cAc		carbonic anhydrase XII	Acetazolamide(DB00819)						161.0	138.0	146.0					15																	63638797		2203	4300	6503	SO:0001583	missense	771				one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding	g.chr15:63638797G>T	AF051882	CCDS10185.1, CCDS10186.1	15q22	2004-01-19			ENSG00000074410	ENSG00000074410		"""Carbonic anhydrases"""	1371	protein-coding gene	gene with protein product		603263				9636197	Standard	NM_001218		Approved	HsT18816	uc002amc.3	O43570	OTTHUMG00000132881	ENST00000178638.3:c.218C>A	15.37:g.63638797G>T	ENSP00000178638:p.Pro73His					CA12_ENST00000344366.3_Missense_Mutation_p.P73H|CA12_ENST00000422263.2_Intron	p.P73H	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN			3	658	-			73					B2RE24|Q53YE5|Q9BWG2	Missense_Mutation	SNP	ENST00000178638.3	37	c.218C>A	CCDS10185.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598420	0.87055	.	.	ENSG00000074410	ENST00000178638;ENST00000344366	T;T	0.57436	0.4;0.4	5.36	5.36	0.76844	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.099373	0.64402	D	0.000001	T	0.79811	0.4510	M	0.93678	3.445	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.69824	0.966;0.941	D	0.84750	0.0756	10	0.66056	D	0.02	.	18.0061	0.89210	0.0:0.0:1.0:0.0	.	73;73	O43570-2;O43570	.;CAH12_HUMAN	H	73	ENSP00000178638:P73H;ENSP00000343088:P73H	ENSP00000178638:P73H	P	-	2	0	CA12	61425850	1.000000	0.71417	0.440000	0.26846	0.886000	0.51366	9.604000	0.98317	2.665000	0.90641	0.561000	0.74099	CCC		0.572	CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256370.1	NM_001218		4	55	4	55	---	---	---	---
SPN	6693	broad.mit.edu	37	16	29675595	29675595	+	Silent	SNP	C	C	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr16:29675595C>A	ENST00000360121.3	+	2	638	c.546C>A	c.(544-546)acC>acA	p.T182T	SPN_ENST00000395389.2_Silent_p.T182T	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	O75398	DEAF1_HUMAN	sialophorin	0					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CCAAAGGCACCTCTGGACCCC	0.592																																						ENST00000360121.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						c.(544-546)acC>acA		sialophorin							107.0	116.0	113.0					16																	29675595		2197	4300	6497	SO:0001819	synonymous_variant	6693				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity	g.chr16:29675595C>A	J04536	CCDS10650.1	16p11.2	2008-07-31	2008-07-31		ENSG00000197471	ENSG00000197471		"""CD molecules"""	11249	protein-coding gene	gene with protein product	"""leukosialin"""	182160	"""sialophorin (gpL115, leukosialin, CD43)"""			2784859, 2521952	Standard	NM_001030288		Approved	LSN, CD43, GPL115	uc002dtm.4	P16150	OTTHUMG00000097765	ENST00000360121.3:c.546C>A	16.37:g.29675595C>A						SPN_ENST00000395389.2_Silent_p.T182T	p.T182T	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN			2	638	+			182					A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Silent	SNP	ENST00000360121.3	37	c.546C>A	CCDS10650.1																																																																																				0.592	SPN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215001.2			41	145	41	145	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10296458	10296458	+	Missense_Mutation	SNP	C	C	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr17:10296458C>T	ENST00000403437.2	-	36	5330	c.5236G>A	c.(5236-5238)Gaa>Aaa	p.E1746K	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1746					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGGATTACTTCTTCCACTTCA	0.393									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(5236-5238)Gaa>Aaa		myosin, heavy chain 8, skeletal muscle, perinatal							309.0	269.0	282.0					17																	10296458		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10296458C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5236G>A	17.37:g.10296458C>T	ENSP00000384330:p.Glu1746Lys					CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	p.E1746K	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			36	5330	-			1746					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.5236G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495441	0.85069	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.85955	-2.05	5.21	5.21	0.72293	Myosin tail (1);	0.196487	0.24518	U	0.037825	D	0.94023	0.8085	H	0.96239	3.79	0.58432	D	0.999992	P	0.40970	0.734	P	0.52386	0.697	D	0.95272	0.8378	10	0.87932	D	0	.	18.947	0.92626	0.0:1.0:0.0:0.0	.	1746	P13535	MYH8_HUMAN	K	1746	ENSP00000384330:E1746K	ENSP00000252173:E1746K	E	-	1	0	MYH8	10237183	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	7.573000	0.82421	2.712000	0.92718	0.585000	0.79938	GAA		0.393	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		45	184	45	184	---	---	---	---
PLXDC1	57125	broad.mit.edu	37	17	37243903	37243903	+	Silent	SNP	G	G	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr17:37243903G>A	ENST00000315392.4	-	8	1075	c.864C>T	c.(862-864)agC>agT	p.S288S	PLXDC1_ENST00000539608.1_Silent_p.S215S|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Silent_p.S248S|PLXDC1_ENST00000394316.2_Silent_p.S288S	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	288					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGGTGACCTTGCTGGGGTCCA	0.557																																						ENST00000315392.4																			0				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(862-864)agC>agT		plexin domain containing 1							98.0	74.0	82.0					17																	37243903		2203	4300	6503	SO:0001819	synonymous_variant	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37243903G>A	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.864C>T	17.37:g.37243903G>A						PLXDC1_ENST00000444911.2_Silent_p.S248S|PLXDC1_ENST00000394316.2_Silent_p.S288S|PLXDC1_ENST00000539608.1_Silent_p.S215S|PLXDC1_ENST00000493200.1_5'UTR	p.S288S	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN			8	1075	-			288					B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Silent	SNP	ENST00000315392.4	37	c.864C>T	CCDS11333.1																																																																																				0.557	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		7	22	7	22	---	---	---	---
ABCA8	10351	broad.mit.edu	37	17	66902187	66902187	+	Missense_Mutation	SNP	G	G	A	rs370259792		TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr17:66902187G>A	ENST00000269080.2	-	17	2413	c.2276C>T	c.(2275-2277)tCg>tTg	p.S759L	ABCA8_ENST00000586539.1_Missense_Mutation_p.S799L|ABCA8_ENST00000430352.2_Missense_Mutation_p.S799L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	759					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTATTTACCCGATTCATTAAT	0.328																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(2275-2277)tCg>tTg		ATP-binding cassette, sub-family A (ABC1), member 8		G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	118.0	119.0	119.0		2276	3.4	0.7	17		119	0,8594		0,0,4297	no	missense	ABCA8	NM_007168.2	145	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	benign	759/1582	66902187	1,12999	2203	4297	6500	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66902187G>A	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2276C>T	17.37:g.66902187G>A	ENSP00000269080:p.Ser759Leu					ABCA8_ENST00000430352.2_Missense_Mutation_p.S799L|ABCA8_ENST00000586539.1_Missense_Mutation_p.S799L	p.S759L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			17	2413	-	Breast(10;4.56e-13)		759					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.2276C>T	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760474	0.31137	2.27E-4	0.0	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.86627	-2.15;-2.12	5.38	3.42	0.39159	.	0.454373	0.18561	N	0.137613	D	0.82614	0.5075	M	0.66939	2.045	0.20638	N	0.999878	B;B;B;B;B	0.15719	0.012;0.014;0.002;0.001;0.003	B;B;B;B;B	0.12837	0.008;0.006;0.002;0.003;0.002	T	0.70428	-0.4874	10	0.35671	T	0.21	.	5.0405	0.14456	0.1701:0.0:0.6642:0.1657	.	738;799;799;799;759	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	L	759;799;738	ENSP00000269080:S759L;ENSP00000402814:S799L	ENSP00000269080:S759L	S	-	2	0	ABCA8	64413782	1.000000	0.71417	0.692000	0.30179	0.808000	0.45660	2.063000	0.41423	0.849000	0.35215	-0.137000	0.14449	TCG		0.328	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		29	57	29	57	---	---	---	---
APC2	10297	broad.mit.edu	37	19	1465241	1465241	+	Silent	SNP	C	C	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:1465241C>T	ENST00000535453.1	+	14	3654	c.1941C>T	c.(1939-1941)ggC>ggT	p.G647G	C19orf25_ENST00000588427.1_Intron|CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000238483.4_Silent_p.G373G|APC2_ENST00000233607.2_Silent_p.G647G			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGCGTGCGGCACGCTCTGGA	0.647																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(1939-1941)ggC>ggT		adenomatosis polyposis coli 2							23.0	20.0	21.0					19																	1465241		2190	4292	6482	SO:0001819	synonymous_variant	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1465241C>T		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.1941C>T	19.37:g.1465241C>T						APC2_ENST00000233607.2_Silent_p.G647G|APC2_ENST00000238483.4_Silent_p.G373G|C19orf25_ENST00000588427.1_Intron	p.G647G			O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	3654	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	647					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	37	c.1941C>T	CCDS12068.1																																																																																				0.647	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		4	4	4	4	---	---	---	---
ZNF175	7728	broad.mit.edu	37	19	52090595	52090595	+	Missense_Mutation	SNP	C	C	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:52090595C>G	ENST00000262259.2	+	5	1369	c.1011C>G	c.(1009-1011)tgC>tgG	p.C337W	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	337					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CCTGTATATGCAAGGAATGTG	0.408																																						ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1009-1011)tgC>tgG		zinc finger protein 175							88.0	87.0	87.0					19																	52090595		2203	4300	6503	SO:0001583	missense	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52090595C>G	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.1011C>G	19.37:g.52090595C>G	ENSP00000262259:p.Cys337Trp					ZNF175_ENST00000436511.2_Intron	p.C337W	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	1369	+		all_neural(266;0.0299)	337					A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	37	c.1011C>G	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	C	7.471	0.646707	0.14516	.	.	ENSG00000105497	ENST00000262259	T	0.37058	1.22	2.3	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.66157	0.2761	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64774	-0.6328	9	0.87932	D	0	.	5.2267	0.15399	0.0:0.1688:0.0:0.8312	.	337	Q9Y473	ZN175_HUMAN	W	337	ENSP00000262259:C337W	ENSP00000262259:C337W	C	+	3	2	ZNF175	56782407	0.000000	0.05858	0.939000	0.37840	0.318000	0.28184	-0.926000	0.03988	0.340000	0.23745	-0.471000	0.05019	TGC		0.408	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		13	48	13	48	---	---	---	---
ZNF347	84671	broad.mit.edu	37	19	53643640	53643640	+	Missense_Mutation	SNP	C	C	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:53643640C>A	ENST00000334197.7	-	5	2509	c.2441G>T	c.(2440-2442)gGt>gTt	p.G814V	ZNF347_ENST00000452676.2_Missense_Mutation_p.G815V|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.G815V	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	814					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AGGTTTCCCACCAGTATGGAT	0.418																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(2443-2445)gGt>gTt		zinc finger protein 347							182.0	179.0	180.0					19																	53643640		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53643640C>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2441G>T	19.37:g.53643640C>A	ENSP00000334146:p.Gly814Val					ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.G814V|ZNF347_ENST00000601469.2_Missense_Mutation_p.G815V	p.G815V	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2870	-			814					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.2444G>T	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307407	0.40795	.	.	ENSG00000197937	ENST00000334197;ENST00000452676;ENST00000436933	T;T	0.21361	2.01;2.01	2.37	-2.17	0.07059	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32406	0.0828	M	0.68728	2.09	0.44966	D	0.997989	P;D	0.76494	0.797;0.999	B;D	0.64237	0.14;0.923	T	0.32241	-0.9914	9	0.87932	D	0	.	3.9593	0.09404	0.1764:0.5744:0.0:0.2492	.	815;814	G5E9N4;Q96SE7	.;ZN347_HUMAN	V	814;815;71	ENSP00000334146:G814V;ENSP00000405218:G815V	ENSP00000334146:G814V	G	-	2	0	ZNF347	58335452	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.596000	0.24044	-0.516000	0.06470	-0.378000	0.06908	GGT		0.418	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		66	154	66	154	---	---	---	---
ZNF665	79788	broad.mit.edu	37	19	53668835	53668835	+	Nonsense_Mutation	SNP	G	G	C			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:53668835G>C	ENST00000600412.1	-	2	828	c.713C>G	c.(712-714)tCa>tGa	p.S238*	ZNF665_ENST00000396424.3_Nonsense_Mutation_p.S303*|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	238					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGCAAGGTGTGAATTTTGAGT	0.423																																						ENST00000600412.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(712-714)tCa>tGa		zinc finger protein 665							126.0	135.0	132.0					19																	53668835		2203	4300	6503	SO:0001587	stop_gained	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668835G>C		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.713C>G	19.37:g.53668835G>C	ENSP00000469154:p.Ser238*					ZNF665_ENST00000396424.3_Nonsense_Mutation_p.S303*	p.S238*			Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	2	828	-			238					A8K5T8	Nonsense_Mutation	SNP	ENST00000600412.1	37	c.713C>G		.	.	.	.	.	.	.	.	.	.	G	17.17	3.322529	0.60634	.	.	ENSG00000197497	ENST00000396424	.	.	.	2.24	2.24	0.28232	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	11.5351	0.50633	0.0:0.0:1.0:0.0	.	.	.	.	X	303	.	ENSP00000379702:S303X	S	-	2	0	ZNF665	58360647	0.000000	0.05858	0.006000	0.13384	0.061000	0.15899	-0.200000	0.09478	1.242000	0.43836	0.436000	0.28706	TCA		0.423	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		52	179	52	179	---	---	---	---
NCR1	9437	broad.mit.edu	37	19	55418146	55418146	+	Missense_Mutation	SNP	G	G	C			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:55418146G>C	ENST00000291890.4	+	3	374	c.336G>C	c.(334-336)ttG>ttC	p.L112F	NCR1_ENST00000447255.1_Missense_Mutation_p.L112F|NCR1_ENST00000594765.1_Missense_Mutation_p.L112F|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000350790.5_Intron|NCR1_ENST00000338835.5_Missense_Mutation_p.L112F|NCR1_ENST00000598576.1_Missense_Mutation_p.L100F	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	112	Ig-like 1.				cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CCAGCAACTTGCTGGATCTGG	0.522																																						ENST00000594765.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(334-336)ttG>ttC		natural cytotoxicity triggering receptor 1							75.0	82.0	80.0					19																	55418146		2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55418146G>C	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.336G>C	19.37:g.55418146G>C	ENSP00000291890:p.Leu112Phe					NCR1_ENST00000338835.5_Missense_Mutation_p.L112F|NCR1_ENST00000598576.1_Missense_Mutation_p.L100F|NCR1_ENST00000447255.1_Missense_Mutation_p.L112F|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000350790.5_Intron|NCR1_ENST00000291890.4_Missense_Mutation_p.L112F	p.L112F			O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	3	361	+			112			Ig-like 1.		B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.336G>C	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	G	8.978	0.974734	0.18736	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835	T;T;T	0.12774	2.65;2.65;2.65	3.74	-2.93	0.05598	Immunoglobulin-like fold (1);	0.785212	0.11163	N	0.592885	T	0.05593	0.0147	N	0.08118	0	0.09310	N	1	B;B;B	0.26318	0.146;0.04;0.088	B;B;B	0.28305	0.088;0.068;0.088	T	0.34900	-0.9810	10	0.87932	D	0	.	2.5603	0.04770	0.1496:0.4159:0.3075:0.127	.	112;112;112	B0V3L5;O76036-6;O76036	.;.;NCTR1_HUMAN	F	112	ENSP00000291890:L112F;ENSP00000404434:L112F;ENSP00000339515:L112F	ENSP00000291890:L112F	L	+	3	2	NCR1	60109958	0.037000	0.19845	0.003000	0.11579	0.001000	0.01503	-0.180000	0.09754	-0.448000	0.07128	-1.186000	0.01703	TTG		0.522	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			23	93	23	93	---	---	---	---
TRIM28	10155	broad.mit.edu	37	19	59061121	59061121	+	Missense_Mutation	SNP	C	C	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:59061121C>T	ENST00000253024.5	+	14	2289	c.2000C>T	c.(1999-2001)tCa>tTa	p.S667L	TRIM28_ENST00000341753.6_Missense_Mutation_p.S585L	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	667					convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TGGAGCTGCTCACTCTGCCAT	0.592																																						ENST00000253024.5																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19						c.(1999-2001)tCa>tTa		tripartite motif containing 28							141.0	132.0	135.0					19																	59061121		2203	4300	6503	SO:0001583	missense	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59061121C>T		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.2000C>T	19.37:g.59061121C>T	ENSP00000253024:p.Ser667Leu					TRIM28_ENST00000341753.6_Missense_Mutation_p.S585L	p.S667L	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	14	2289	+		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	667					O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	37	c.2000C>T	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109153	0.56398	.	.	ENSG00000130726	ENST00000253024;ENST00000341753	D;D	0.84873	-1.91;-1.91	4.55	4.55	0.56014	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.331836	0.21359	N	0.075828	D	0.85894	0.5803	N	0.17800	0.525	0.36388	D	0.862359	D;D;D	0.65815	0.994;0.974;0.995	D;D;D	0.72625	0.962;0.937;0.978	D	0.89069	0.3468	10	0.87932	D	0	-12.288	13.0711	0.59061	0.0:1.0:0.0:0.0	.	585;667;667	Q13263-2;B2R8R5;Q13263	.;.;TIF1B_HUMAN	L	667;585	ENSP00000253024:S667L;ENSP00000342232:S585L	ENSP00000253024:S667L	S	+	2	0	TRIM28	63752933	0.994000	0.37717	0.994000	0.49952	0.992000	0.81027	2.851000	0.48302	2.556000	0.86216	0.436000	0.28706	TCA		0.592	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		53	73	53	73	---	---	---	---
GINS1	9837	broad.mit.edu	37	20	25388520	25388520	+	Missense_Mutation	SNP	C	C	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr20:25388520C>T	ENST00000262460.4	+	1	158	c.64C>T	c.(64-66)Cct>Tct	p.P22S	GINS1_ENST00000484893.1_3'UTR|GINS1_ENST00000429262.2_Missense_Mutation_p.P22S	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN	GINS complex subunit 1 (Psf1 homolog)	22					DNA strand elongation involved in DNA replication (GO:0006271)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						AGGGCAACTGCCTGCCTTCAA	0.677																																						ENST00000262460.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						c.(64-66)Cct>Tct		GINS complex subunit 1 (Psf1 homolog)							32.0	29.0	30.0					20																	25388520		2202	4300	6502	SO:0001583	missense	9837				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm		g.chr20:25388520C>T	BC012542	CCDS33451.1	20p11.21	2006-05-04			ENSG00000101003	ENSG00000101003			28980	protein-coding gene	gene with protein product		610608				8724849, 8786132	Standard	NM_021067		Approved	KIAA0186, PSF1	uc002wuv.1	Q14691	OTTHUMG00000032124	ENST00000262460.4:c.64C>T	20.37:g.25388520C>T	ENSP00000262460:p.Pro22Ser					GINS1_ENST00000484893.1_3'UTR|GINS1_ENST00000429262.2_Missense_Mutation_p.P22S	p.P22S	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN			1	158	+			22					Q9NQE2|Q9NQI7	Missense_Mutation	SNP	ENST00000262460.4	37	c.64C>T	CCDS33451.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684521	0.68157	.	.	ENSG00000101003	ENST00000262460;ENST00000429262	T;T	0.58940	0.3;0.3	4.02	4.02	0.46733	.	0.117105	0.64402	D	0.000015	T	0.59088	0.2168	M	0.74647	2.275	0.58432	D	0.999999	P	0.36599	0.56	B	0.37047	0.24	T	0.64960	-0.6284	10	0.42905	T	0.14	-3.8974	15.4342	0.75133	0.0:1.0:0.0:0.0	.	22	Q14691	PSF1_HUMAN	S	22	ENSP00000262460:P22S;ENSP00000408669:P22S	ENSP00000262460:P22S	P	+	1	0	GINS1	25336520	1.000000	0.71417	0.990000	0.47175	0.942000	0.58702	4.905000	0.63286	2.228000	0.72767	0.563000	0.77884	CCT		0.677	GINS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078433.1	NM_021067		7	22	7	22	---	---	---	---
U2AF1	7307	broad.mit.edu	37	21	44514890	44514890	+	Silent	SNP	A	A	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr21:44514890A>G	ENST00000291552.4	-	6	449	c.357T>C	c.(355-357)cgT>cgC	p.R119R	U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000459639.1_Silent_p.R46R|U2AF1_ENST00000398137.1_Silent_p.R46R|U2AF1_ENST00000380276.2_Silent_p.R119R	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	119	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						CATCTTCCTCACGGCGAAACT	0.448			Mis		"""CLL, MDS"""																																	ENST00000459639.1				Dom	yes		21	21q22.3	7307	Mis	U2 small nuclear RNA auxiliary factor 1			L			"""CLL, MDS"""		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						c.(136-138)cgT>cgC		U2 small nuclear RNA auxiliary factor 1							60.0	46.0	50.0					21																	44514890		2203	4300	6503	SO:0001819	synonymous_variant	7307				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr21:44514890A>G	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.357T>C	21.37:g.44514890A>G						U2AF1_ENST00000380276.2_Silent_p.R119R|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000291552.4_Silent_p.R119R|U2AF1_ENST00000398137.1_Silent_p.R46R	p.R46R			Q01081	U2AF1_HUMAN			5	1162	-			119					Q701P4|Q71RF1	Silent	SNP	ENST00000291552.4	37	c.138T>C	CCDS13694.1																																																																																				0.448	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		3	38	3	38	---	---	---	---
DRICH1	51233	broad.mit.edu	37	22	23956371	23956371	+	Missense_Mutation	SNP	C	C	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr22:23956371C>G	ENST00000317749.5	-	9	869	c.572G>C	c.(571-573)tGc>tCc	p.C191S		NM_016449.3	NP_057533.2	Q6PGQ1	DRIC1_HUMAN		191	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						TCTCAGTGAGCATCTTAAAAA	0.453																																						ENST00000317749.5																			0				endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						c.(571-573)tGc>tCc		chromosome 22 open reading frame 43							182.0	184.0	183.0					22																	23956371		2035	4189	6224	SO:0001583	missense	51233							g.chr22:23956371C>G																												ENST00000317749.5:c.572G>C	22.37:g.23956371C>G	ENSP00000316137:p.Cys191Ser						p.C191S	NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN			9	869	-			191			Asp-rich.		Q6ICJ8|Q6P4I3|Q9NU31	Missense_Mutation	SNP	ENST00000317749.5	37	c.572G>C	CCDS42985.1	.	.	.	.	.	.	.	.	.	.	c	4.522	0.096868	0.08681	.	.	ENSG00000189269	ENST00000317749	T	0.38077	1.16	1.03	-2.06	0.07298	.	.	.	.	.	T	0.15176	0.0366	N	0.22421	0.69	0.09310	N	1	P	0.34684	0.463	B	0.23574	0.047	T	0.16453	-1.0402	9	0.22109	T	0.4	.	2.4502	0.04516	0.0:0.422:0.3218:0.2562	.	191	Q6PGQ1	CV043_HUMAN	S	191	ENSP00000316137:C191S	ENSP00000316137:C191S	C	-	2	0	C22orf43	22286371	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.394000	0.07296	-0.570000	0.06022	0.386000	0.25728	TGC		0.453	C22orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319708.2			19	51	19	51	---	---	---	---
WAS	7454	broad.mit.edu	37	X	48547130	48547130	+	Missense_Mutation	SNP	G	G	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chrX:48547130G>A	ENST00000376701.4	+	10	1088	c.1013G>A	c.(1012-1014)cGt>cAt	p.R338H		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	338					actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				AACAAGGGTCGTTCTGGTCCA	0.692			"""Mis, N, F, S"""			lymphoma																																ENST00000376701.4				X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	"""Mis, N, F, S"""	Wiskott-Aldrich syndrome			L		lymphoma			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28	GRCh37	CD962186	WAS	D		c.(1012-1014)cGt>cAt		Wiskott-Aldrich syndrome							10.0	10.0	10.0					X																	48547130		2175	4242	6417	SO:0001583	missense	7454				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity	g.chrX:48547130G>A	AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"""eczema-thrombocytopenia"""	300392	"""thrombocytopenia 1 (X-linked)"", ""Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"""	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.1013G>A	X.37:g.48547130G>A	ENSP00000365891:p.Arg338His						p.R338H	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN			10	1088	+		all_lung(315;1.27e-10)	338					Q9BU11|Q9UNJ9	Missense_Mutation	SNP	ENST00000376701.4	37	c.1013G>A	CCDS14303.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777563	0.70107	.	.	ENSG00000015285	ENST00000376701	D	0.99748	-6.62	4.39	3.44	0.39384	Wiscott-Aldrich syndrome, C-terminal (1);	0.306403	0.28504	N	0.015112	D	0.99105	0.9692	M	0.72353	2.195	0.39556	D	0.969046	D	0.65815	0.995	P	0.51016	0.656	D	0.98784	1.0733	10	0.62326	D	0.03	-7.8544	4.94	0.13960	0.1223:0.2155:0.6622:0.0	.	338	P42768	WASP_HUMAN	H	338	ENSP00000365891:R338H	ENSP00000365891:R338H	R	+	2	0	WAS	48432074	0.996000	0.38824	0.997000	0.53966	0.994000	0.84299	2.626000	0.46460	1.901000	0.55032	0.525000	0.51046	CGT		0.692	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377		8	0	8	0	---	---	---	---
RLIM	51132	broad.mit.edu	37	X	73811565	73811565	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chrX:73811565delG	ENST00000332687.6	-	4	1803	c.1585delC	c.(1585-1587)cttfs	p.L529fs	RLIM_ENST00000349225.2_Frame_Shift_Del_p.L529fs	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	529					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCAGGCTAAGGAAGGGCAAA	0.478																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1585-1587)cttfs		ring finger protein, LIM domain interacting							49.0	40.0	43.0					X																	73811565		2203	4300	6503	SO:0001589	frameshift_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811565delG	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1585delC	X.37:g.73811565delG	ENSP00000328059:p.Leu529fs					RLIM_ENST00000349225.2_Frame_Shift_Del_p.L529fs	p.L529fs	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1803	-			529					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Frame_Shift_Del	DEL	ENST00000332687.6	37	c.1585delC	CCDS14427.1																																																																																				0.478	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		19	1	19	1	---	---	---	---
