#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ZNF266	10781	broad.mit.edu	37	19	9526349	9526349	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr19:9526349G>A	ENST00000592904.1	-	4	2261	c.185C>T	c.(184-186)aCc>aTc	p.T62I	ZNF266_ENST00000588221.1_Missense_Mutation_p.T62I|ZNF266_ENST00000588933.1_Missense_Mutation_p.T62I|ZNF266_ENST00000590306.1_Missense_Mutation_p.T62I|ZNF266_ENST00000592292.1_Missense_Mutation_p.T62I|ZNF266_ENST00000361151.1_Missense_Mutation_p.T62I|ZNF266_ENST00000361451.2_Missense_Mutation_p.T62I			Q14584	ZN266_HUMAN	zinc finger protein 266	62					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						CCCACTGGAGGTTGGCTCCCC	0.388																																						ENST00000592904.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						c.(184-186)aCc>aTc		zinc finger protein 266							140.0	135.0	137.0					19																	9526349		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9526349G>A	X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.185C>T	19.37:g.9526349G>A	ENSP00000466714:p.Thr62Ile					ZNF266_ENST00000361151.1_Missense_Mutation_p.T62I|ZNF266_ENST00000590306.1_Missense_Mutation_p.T62I|ZNF266_ENST00000588221.1_Missense_Mutation_p.T62I|ZNF266_ENST00000592292.1_Missense_Mutation_p.T62I|ZNF266_ENST00000588933.1_Missense_Mutation_p.T62I|ZNF266_ENST00000361451.2_Missense_Mutation_p.T62I	p.T62I			Q14584	ZN266_HUMAN			4	2261	-			62					A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	ENST00000592904.1	37	c.185C>T	CCDS12213.1	.	.	.	.	.	.	.	.	.	.	G	4.015	0.000115	0.07819	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.08102	3.13;3.13	3.36	-1.8	0.07907	.	.	.	.	.	T	0.03871	0.0109	N	0.12182	0.205	0.09310	N	1	B	0.22003	0.063	B	0.22880	0.042	T	0.41197	-0.9522	9	0.41790	T	0.15	.	2.3825	0.04357	0.2005:0.145:0.504:0.1505	.	62	Q14584	ZN266_HUMAN	I	62	ENSP00000354680:T62I;ENSP00000355047:T62I	ENSP00000355047:T62I	T	-	2	0	ZNF266	9387349	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.052000	0.11865	-0.704000	0.05042	-1.471000	0.01009	ACC		0.388	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1			6	44	0	0	0	1	0	6	44				
FAT2	2196	broad.mit.edu	37	5	150946296	150946296	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr5:150946296G>A	ENST00000261800.5	-	1	2209	c.2197C>T	c.(2197-2199)Ccc>Tcc	p.P733S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	733	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			CGGGCCAAGGGGGTGTTGATA	0.483																																						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.(2197-2199)Ccc>Tcc		FAT atypical cadherin 2							78.0	86.0	84.0					5																	150946296		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.chr5:150946296G>A	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.2197C>T	5.37:g.150946296G>A	ENSP00000261800:p.Pro733Ser						p.P733S	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	2209	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	733			Cadherin 6.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.2197C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.600720	0.00123	.	.	ENSG00000086570	ENST00000261800	T	0.49720	0.77	5.78	-3.0	0.05480	Cadherin (3);Cadherin-like (1);	0.472711	0.21193	N	0.078604	T	0.11665	0.0284	N	0.00656	-1.285	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34229	-0.9837	10	0.16896	T	0.51	.	5.5567	0.17121	0.4476:0.0:0.2184:0.3341	.	733	Q9NYQ8	FAT2_HUMAN	S	733	ENSP00000261800:P733S	ENSP00000261800:P733S	P	-	1	0	FAT2	150926489	0.320000	0.24616	0.005000	0.12908	0.201000	0.24016	0.880000	0.28159	-0.295000	0.08960	-0.137000	0.14449	CCC		0.483	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		62	84	0	0	0	1	0	62	84				
TMEM132B	114795	broad.mit.edu	37	12	125900205	125900205	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr12:125900205G>A	ENST00000299308.3	+	3	1081	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	358						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ATGGGCCATCGCCCGGACACG	0.592																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(1072-1074)cGc>cAc		transmembrane protein 132B							46.0	55.0	52.0					12																	125900205		2176	4263	6439	SO:0001583	missense	114795					integral to membrane		g.chr12:125900205G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1073G>A	12.37:g.125900205G>A	ENSP00000299308:p.Arg358His						p.R358H	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	3	1081	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		358					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.1073G>A	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037353	0.35989	.	.	ENSG00000139364	ENST00000299308	T	0.14266	2.52	5.63	-11.3	0.00108	.	.	.	.	.	T	0.03390	0.0098	N	0.03608	-0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.37572	-0.9700	9	0.41790	T	0.15	.	0.5094	0.00592	0.2778:0.1616:0.283:0.2776	.	358	Q14DG7	T132B_HUMAN	H	358	ENSP00000299308:R358H	ENSP00000299308:R358H	R	+	2	0	TMEM132B	124466158	0.000000	0.05858	0.010000	0.14722	0.960000	0.62799	-1.761000	0.01805	-2.136000	0.00810	-0.140000	0.14226	CGC		0.592	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		16	69	0	0	0	1	0	16	69				
TPTE	7179	broad.mit.edu	37	21	10941933	10941933	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr21:10941933T>C	ENST00000361285.4	-	14	1099	c.770A>G	c.(769-771)cAg>cGg	p.Q257R	TPTE_ENST00000298232.7_Missense_Mutation_p.Q239R|TPTE_ENST00000342420.5_Missense_Mutation_p.Q219R|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	257	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATAGAAAGACTGCCTTCCAGA	0.308																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(715-717)cAg>cGg		transmembrane phosphatase with tensin homology							219.0	212.0	214.0					21																	10941933		2203	4299	6502	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10941933T>C	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.770A>G	21.37:g.10941933T>C	ENSP00000355208:p.Gln257Arg					TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.Q219R|TPTE_ENST00000361285.4_Missense_Mutation_p.Q257R	p.Q239R	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	13	1083	-			257			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.716A>G	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	2.568	-0.300384	0.05532	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	T;T;T	0.29655	1.56;1.56;1.56	1.8	0.606	0.17559	Phosphatase tensin type (1);	0.261631	0.38605	U	0.001633	T	0.19644	0.0472	L	0.38692	1.165	0.36430	D	0.864865	B;B;B	0.15141	0.007;0.007;0.012	B;B;B	0.17722	0.019;0.019;0.005	T	0.06789	-1.0807	10	0.46703	T	0.11	-1.3642	5.0279	0.14395	0.0:0.1772:0.0:0.8228	.	219;239;257	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	R	239;257;219	ENSP00000298232:Q239R;ENSP00000355208:Q257R;ENSP00000344441:Q219R	ENSP00000298232:Q239R	Q	-	2	0	TPTE	9963804	1.000000	0.71417	0.048000	0.18961	0.092000	0.18411	2.536000	0.45693	0.164000	0.19529	0.163000	0.16589	CAG		0.308	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			28	108	0	0	0	1	0	28	108				
KDM5B	10765	broad.mit.edu	37	1	202719900	202719900	+	Nonsense_Mutation	SNP	G	G	A	rs367833330		TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr1:202719900G>A	ENST00000367265.3	-	13	2872	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	KDM5B_ENST00000456180.1_5'Flank|KDM5B_ENST00000367264.2_Nonsense_Mutation_p.R606*	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	570	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TGATTAGTTCGGTAAACCTAA	0.358																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(1708-1710)Cga>Tga		lysine (K)-specific demethylase 5B		G	stop/ARG	0,4406		0,0,2203	86.0	89.0	88.0		1708	3.2	1.0	1		88	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	KDM5B	NM_006618.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		570/1545	202719900	1,13005	2203	4300	6503	SO:0001587	stop_gained	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202719900G>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1708C>T	1.37:g.202719900G>A	ENSP00000356234:p.Arg570*					KDM5B_ENST00000367264.2_Nonsense_Mutation_p.R606*	p.R570*	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			13	2872	-			570			JmjC.		O95811|Q15752|Q9Y3Q5	Nonsense_Mutation	SNP	ENST00000367265.3	37	c.1708C>T	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	43	9.981919	0.99310	0.0	1.16E-4	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	.	.	.	5.15	3.23	0.37069	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5821	14.3116	0.66419	0.0:0.0:0.614:0.386	.	.	.	.	X	570;412;606;412	.	ENSP00000235790:R412X	R	-	1	2	KDM5B	200986523	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.133000	0.57983	0.641000	0.30601	-0.195000	0.12781	CGA		0.358	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		40	40	0	0	0	1	0	40	40				
FBXW12	285231	broad.mit.edu	37	3	48420003	48420003	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr3:48420003G>A	ENST00000296438.5	+	6	788	c.602G>A	c.(601-603)gGc>gAc	p.G201D	FBXW12_ENST00000415155.1_Intron|RN7SL321P_ENST00000581742.1_RNA|FBXW12_ENST00000436231.1_Missense_Mutation_p.G44D|FBXW12_ENST00000445170.1_Missense_Mutation_p.G182D	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	201										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACAAAGGATGGCCCATTCCTG	0.483																																						ENST00000296438.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(601-603)gGc>gAc		F-box and WD repeat domain containing 12							58.0	51.0	53.0					3																	48420003		2203	4300	6503	SO:0001583	missense	285231							g.chr3:48420003G>A	AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	20729	protein-coding gene	gene with protein product		609075	"""F-box only protein 35"", ""F-box and WD-40 domain protein 12"""	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.602G>A	3.37:g.48420003G>A	ENSP00000296438:p.Gly201Asp					FBXW12_ENST00000415155.1_Intron|FBXW12_ENST00000436231.1_Missense_Mutation_p.G44D|FBXW12_ENST00000445170.1_Missense_Mutation_p.G182D	p.G201D	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	6	788	+			201					E9PG36|Q494Y9|Q494Z0	Missense_Mutation	SNP	ENST00000296438.5	37	c.602G>A	CCDS2764.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857754	0.51376	.	.	ENSG00000164049	ENST00000458736;ENST00000296438;ENST00000436231;ENST00000445170	T;T;T	0.71934	0.86;-0.61;0.86	4.35	2.45	0.29901	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);	0.776617	0.11945	N	0.514267	T	0.78123	0.4234	L	0.49350	1.555	0.09310	N	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.72338	0.977;0.977;0.949	T	0.65265	-0.6210	10	0.37606	T	0.19	-9.2885	11.1018	0.48179	0.0:0.3619:0.6381:0.0	.	100;182;201	E9PCA2;E9PG36;Q6X9E4	.;.;FBW12_HUMAN	D	100;201;44;182	ENSP00000296438:G201D;ENSP00000413866:G44D;ENSP00000406139:G182D	ENSP00000296438:G201D	G	+	2	0	FBXW12	48395007	0.005000	0.15991	0.004000	0.12327	0.334000	0.28698	0.834000	0.27518	0.505000	0.28104	-0.182000	0.12963	GGC		0.483	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257505.1	NM_207102		3	23	0	0	0	1	0	3	23				
POTEC	388468	broad.mit.edu	37	18	14542654	14542654	+	Silent	SNP	C	C	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr18:14542654C>A	ENST00000358970.5	-	1	491	c.492G>T	c.(490-492)acG>acT	p.T164T	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	164								p.T164T(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGTTCATGTCCGTGTCCCTGA	0.592																																						ENST00000358970.5																			2	Substitution - coding silent(2)	p.T164T(2)	lung(1)|kidney(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(490-492)acG>acT		POTE ankyrin domain family, member C							260.0	241.0	247.0					18																	14542654		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14542654C>A	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.492G>T	18.37:g.14542654C>A						POTEC_ENST00000389891.4_5'UTR	p.T164T	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	491	-			164						Silent	SNP	ENST00000358970.5	37	c.492G>T	CCDS45835.1																																																																																				0.592	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	192	1	0	0.00909568	1	0.00951873	4	192				
TLR9	54106	broad.mit.edu	37	3	52257400	52257400	+	Missense_Mutation	SNP	C	C	T	rs141692865		TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr3:52257400C>T	ENST00000360658.2	-	2	1565	c.932G>A	c.(931-933)cGa>cAa	p.R311Q	TLR9_ENST00000494383.1_Silent_p.P464P|TLR9_ENST00000597542.1_Missense_Mutation_p.R335Q	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	311					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	GTCCAGCACTCGGAGGTTTCC	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		21478	0.0		0.001	False		,,,				2504	0.0					ENST00000597542.1																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1003-1005)cGa>cAa		toll-like receptor 9	Chloroquine(DB00608)	C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	87.0	86.0	86.0		932	-1.7	0.0	3	dbSNP_134	86	8,8592	6.4+/-24.3	0,8,4292	yes	missense	TLR9	NM_017442.3	43	0,10,6493	TT,TC,CC		0.093,0.0454,0.0769	benign	311/1033	52257400	10,12996	2203	4300	6503	SO:0001583	missense	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52257400C>T	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.932G>A	3.37:g.52257400C>T	ENSP00000353874:p.Arg311Gln					TLR9_ENST00000494383.1_Silent_p.P464P|TLR9_ENST00000360658.2_Missense_Mutation_p.R311Q	p.R335Q			Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	9	1961	-			311					B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.1004G>A	CCDS2848.1	.	.	.	.	.	.	.	.	.	.	C	0.523	-0.861271	0.02610	4.54E-4	9.3E-4	ENSG00000239732	ENST00000360658	T	0.55760	0.5	5.24	-1.68	0.08212	.	5.959150	0.00622	N	0.000453	T	0.28599	0.0708	N	0.16098	0.37	0.09310	N	1	B;B	0.15473	0.01;0.013	B;B	0.10450	0.005;0.004	T	0.10154	-1.0642	10	0.07175	T	0.84	.	1.7902	0.03049	0.2639:0.3654:0.2423:0.1283	.	408;311	B4E0A1;Q9NR96	.;TLR9_HUMAN	Q	311	ENSP00000353874:R311Q	ENSP00000353874:R311Q	R	-	2	0	TLR9	52232440	0.000000	0.05858	0.000000	0.03702	0.268000	0.26511	0.304000	0.19228	-0.334000	0.08463	-0.867000	0.03001	CGA		0.532	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			22	79	0	0	0	1	0	22	79				
IRS1	3667	broad.mit.edu	37	2	227662776	227662776	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr2:227662776G>A	ENST00000305123.5	-	1	1699	c.679C>T	c.(679-681)Cgt>Tgt	p.R227C	IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	227	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		ACGGCAGAACGGCCCACCTCG	0.617											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(679-681)Cgt>Tgt		insulin receptor substrate 1							79.0	88.0	85.0					2																	227662776		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662776G>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.679C>T	2.37:g.227662776G>A	ENSP00000304895:p.Arg227Cys		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.R227C	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	1699	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	227			IRS-type PTB.			Missense_Mutation	SNP	ENST00000305123.5	37	c.679C>T	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127629	0.77549	.	.	ENSG00000169047	ENST00000305123	T	0.75050	-0.9	5.79	4.91	0.64330	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (4);	0.000000	0.85682	D	0.000000	T	0.76198	0.3954	M	0.87456	2.885	0.80722	D	1	P	0.39326	0.668	B	0.32465	0.146	T	0.80777	-0.1231	10	0.87932	D	0	-33.0149	14.9457	0.71029	0.0686:0.0:0.9314:0.0	.	227	P35568	IRS1_HUMAN	C	227	ENSP00000304895:R227C	ENSP00000304895:R227C	R	-	1	0	IRS1	227371020	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	5.533000	0.67160	1.453000	0.47775	0.561000	0.74099	CGT		0.617	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		4	135	0	0	0	1	0	4	135				
STEAP1	26872	broad.mit.edu	37	7	89790617	89790617	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr7:89790617T>A	ENST00000297205.2	+	3	783	c.583T>A	c.(583-585)Tgg>Agg	p.W195R	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	195	Ferric oxidoreductase.				ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					GTTGCTAAACTGGGCATATCA	0.363																																						ENST00000297205.2																			0				kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14						c.(583-585)Tgg>Agg		six transmembrane epithelial antigen of the prostate 1							71.0	60.0	64.0					7																	89790617		2202	4297	6499	SO:0001583	missense	26872				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:89790617T>A	AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"""Serine peptidases / Serine peptidases"""	11378	protein-coding gene	gene with protein product		604415	"""six transmembrane epithelial antigen of the prostate"""	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.583T>A	7.37:g.89790617T>A	ENSP00000297205:p.Trp195Arg					STEAP2-AS1_ENST00000478318.2_RNA	p.W195R	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN			3	783	+	all_hematologic(106;0.112)		195			Ferric oxidoreductase.		A4D1E0|O95034	Missense_Mutation	SNP	ENST00000297205.2	37	c.583T>A	CCDS5614.1	.	.	.	.	.	.	.	.	.	.	T	9.972	1.225678	0.22542	.	.	ENSG00000164647	ENST00000297205	T	0.06528	3.29	5.29	5.29	0.74685	Flavoprotein transmembrane component (1);	0.000000	0.64402	D	0.000003	T	0.11239	0.0274	N	0.17082	0.46	0.41569	D	0.98867	D;D	0.69078	0.997;0.991	D;D	0.69824	0.966;0.93	T	0.45659	-0.9246	10	0.13853	T	0.58	-5.383	15.3814	0.74658	0.0:0.0:0.0:1.0	.	195;195	B4E221;Q9UHE8	.;STEA1_HUMAN	R	195	ENSP00000297205:W195R	ENSP00000297205:W195R	W	+	1	0	STEAP1	89628553	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	4.279000	0.58953	2.216000	0.71823	0.533000	0.62120	TGG		0.363	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059327.3	NM_012449		5	34	0	0	0	1	0	5	34				
TBC1D3P2	440452	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	T	C			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr17:60342197T>C	ENST00000581291.1	-	0	1956									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						TGGGAGGGGCTGGGCATGGTT	0.488																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342197T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342197T>C														0	1956	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.488	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		3	30	0	0	0	1	0	3	30				
NEB	4703	broad.mit.edu	37	2	152497171	152497171	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr2:152497171T>C	ENST00000172853.10	-	61	8530	c.8383A>G	c.(8383-8385)Aaa>Gaa	p.K2795E	NEB_ENST00000409198.1_Missense_Mutation_p.K2795E|NEB_ENST00000603639.1_Missense_Mutation_p.K2795E|NEB_ENST00000397345.3_Missense_Mutation_p.K2795E|NEB_ENST00000427231.2_Missense_Mutation_p.K2795E|NEB_ENST00000604864.1_Missense_Mutation_p.K2795E			P20929	NEBU_HUMAN	nebulin	2795					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAGCCTTCTTTGTACTTGAAC	0.403																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(8383-8385)Aaa>Gaa		nebulin							93.0	85.0	87.0					2																	152497171		1839	4085	5924	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152497171T>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8383A>G	2.37:g.152497171T>C	ENSP00000172853:p.Lys2795Glu					NEB_ENST00000604864.1_Missense_Mutation_p.K2795E|NEB_ENST00000409198.1_Missense_Mutation_p.K2795E|NEB_ENST00000427231.2_Missense_Mutation_p.K2795E|NEB_ENST00000172853.10_Missense_Mutation_p.K2795E|NEB_ENST00000603639.1_Missense_Mutation_p.K2795E	p.K2795E	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	61	8585	-			2795					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.8383A>G		.	.	.	.	.	.	.	.	.	.	T	24.6	4.547524	0.86022	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.69040	-0.37;3.02;3.02;-0.37	6.17	6.17	0.99709	.	0.111517	0.64402	D	0.000018	D	0.85168	0.5635	M	0.91612	3.225	0.80722	D	1	D	0.63880	0.993	D	0.66497	0.944	D	0.88300	0.2949	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	2795	P20929	NEBU_HUMAN	E	2795	ENSP00000386259:K2795E;ENSP00000380505:K2795E;ENSP00000416578:K2795E;ENSP00000172853:K2795E	ENSP00000172853:K2795E	K	-	1	0	NEB	152205417	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.213000	0.72194	2.371000	0.80710	0.533000	0.62120	AAA		0.403	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		73	83	0	0	0	1	0	73	83				
RAD52	5893	broad.mit.edu	37	12	1023182	1023182	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr12:1023182A>T	ENST00000358495.3	-	11	1211	c.1073T>A	c.(1072-1074)tTa>tAa	p.L358*	RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000539046.1_Nonsense_Mutation_p.L281*|RAD52_ENST00000430095.2_Nonsense_Mutation_p.L358*	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	358					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			GTTCAAGGCTAATGTGTCAGA	0.522								Homologous recombination																														ENST00000358495.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(1072-1074)tTa>tAa	Homologous recombination	RAD52 homolog (S. cerevisiae)							156.0	146.0	149.0					12																	1023182		1996	4162	6158	SO:0001587	stop_gained	5893				DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	g.chr12:1023182A>T		CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.1073T>A	12.37:g.1023182A>T	ENSP00000351284:p.Leu358*					RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000430095.2_Nonsense_Mutation_p.L358*|RAD52_ENST00000539046.1_Nonsense_Mutation_p.L281*	p.L358*	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)		11	1211	-	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		358					Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Nonsense_Mutation	SNP	ENST00000358495.3	37	c.1073T>A	CCDS8507.2	.	.	.	.	.	.	.	.	.	.	A	16.84	3.233316	0.58886	.	.	ENSG00000002016	ENST00000358495;ENST00000430095;ENST00000539046	.	.	.	5.1	0.801	0.18679	.	0.676123	0.14818	N	0.296631	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-4.598	4.7127	0.12880	0.2177:0.3542:0.4281:0.0	.	.	.	.	X	358;358;281	.	ENSP00000351284:L358X	L	-	2	0	RAD52	893443	0.004000	0.15560	0.000000	0.03702	0.002000	0.02628	1.515000	0.35845	0.036000	0.15547	0.454000	0.30748	TTA		0.522	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424		15	100	0	0	0	1	0	15	100				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						ENST00000361883.5																			11	Substitution - Missense(11)	p.I88T(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(262-264)aTc>aCc		keratin associated protein 1-5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	309	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			4	71	0	0	0	1	0	4	71				
PCDHA5	56143	broad.mit.edu	37	5	140201485	140201485	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr5:140201485C>A	ENST00000529859.1	+	1	125	c.125C>A	c.(124-126)aCc>aAc	p.T42N	PCDHA5_ENST00000378126.3_Missense_Mutation_p.T42N|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.T42N|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	42	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACACGGAACCTTCGTTGGC	0.677																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(124-126)aCc>aAc									56.0	63.0	61.0					5																	140201485		2203	4300	6503	SO:0001583	missense	0							g.chr5:140201485C>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.125C>A	5.37:g.140201485C>A	ENSP00000436557:p.Thr42Asn					PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.T42N|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.T42N|PCDHA2_ENST00000526136.1_Intron	p.T42N	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	125	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.125C>A	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832530	0.50845	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.46819	0.86;0.86;0.86	3.87	2.98	0.34508	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.65606	0.2707	H	0.97131	3.945	0.30883	N	0.731248	B;B;B	0.28055	0.086;0.123;0.199	B;B;B	0.34590	0.151;0.132;0.186	T	0.70004	-0.4991	9	0.66056	D	0.02	.	11.909	0.52729	0.0:0.9119:0.0:0.0881	.	42;42;42	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	N	42	ENSP00000433416:T42N;ENSP00000436557:T42N;ENSP00000367366:T42N	ENSP00000367366:T42N	T	+	2	0	PCDHA5	140181669	0.014000	0.17966	1.000000	0.80357	0.896000	0.52359	2.696000	0.47052	0.719000	0.32188	0.585000	0.79938	ACC		0.677	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		24	101	1	0	1.22574e-08	1	1.31329e-08	24	101				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			29	26	0	0	0	1	0	29	26				
JUP	3728	broad.mit.edu	37	17	39914694	39914694	+	Missense_Mutation	SNP	C	C	T	rs373434456		TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr17:39914694C>T	ENST00000393931.3	-	10	1848	c.1730G>A	c.(1729-1731)cGc>cAc	p.R577H	JUP_ENST00000310706.5_Missense_Mutation_p.R577H|JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.R577H	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	577	Interaction with DSC1.				adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GATCTCCATGCGGTTCATGGG	0.622																																					Colon(16;42 520 6044 17852 28530)	ENST00000393931.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(1729-1731)cGc>cAc		junction plakoglobin		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	89.0	69.0	76.0		1730,1730	4.4	1.0	17		76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	JUP	NM_002230.2,NM_021991.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	577/746,577/746	39914694	1,13005	2203	4300	6503	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39914694C>T	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1730G>A	17.37:g.39914694C>T	ENSP00000377508:p.Arg577His					JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.R577H|JUP_ENST00000310706.5_Missense_Mutation_p.R577H	p.R577H	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	10	1848	-		Breast(137;0.000162)	577					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	c.1730G>A	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163012	0.94727	0.0	1.16E-4	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.71222	-0.55;-0.55;-0.55	5.41	4.4	0.53042	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.82001	0.4942	M	0.65677	2.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83479	0.0063	10	0.87932	D	0	-33.3945	14.8405	0.70220	0.1435:0.8565:0.0:0.0	.	577	P14923	PLAK_HUMAN	H	577	ENSP00000377507:R577H;ENSP00000311113:R577H;ENSP00000377508:R577H	ENSP00000311113:R577H	R	-	2	0	JUP	37168220	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.546000	0.82137	2.815000	0.96918	0.561000	0.74099	CGC		0.622	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			35	61	0	0	0	1	0	35	61				
STON1	11037	broad.mit.edu	37	2	48809142	48809142	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr2:48809142C>A	ENST00000406226.1	+	3	1565	c.1370C>A	c.(1369-1371)aCc>aAc	p.T457N	STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.T457N|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.T457N|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.T457N|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.T457N|STON1_ENST00000309835.3_Missense_Mutation_p.T457N|STON1_ENST00000404752.1_Missense_Mutation_p.T457N|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.T457N	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	457	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGCTTTTTAACCTTGAATGAC	0.373																																						ENST00000309835.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37						c.(1369-1371)aCc>aAc		stonin 1							125.0	131.0	129.0					2																	48809142		2203	4300	6503	SO:0001583	missense	11037							g.chr2:48809142C>A	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1370C>A	2.37:g.48809142C>A	ENSP00000384615:p.Thr457Asn					STON1_ENST00000406226.1_Missense_Mutation_p.T457N|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.T457N|STON1_ENST00000404752.1_Missense_Mutation_p.T457N|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.T457N|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.T457N|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.T457N|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.T457N	p.T457N					Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1380	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)						A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	c.1370C>A	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.428966	0.62844	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05	5.54	5.54	0.83059	Clathrin adaptor, mu subunit, C-terminal (3);	0.198218	0.53938	D	0.000046	T	0.40398	0.1115	L	0.51422	1.61	0.30758	N	0.74437	D;B;D	0.60160	0.979;0.437;0.987	P;B;P	0.60012	0.69;0.235;0.867	T	0.21042	-1.0257	10	0.87932	D	0	.	19.6787	0.95950	0.0:1.0:0.0:0.0	.	457;457;457	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	N	457	ENSP00000385273:T457N;ENSP00000384615:T457N;ENSP00000310969:T457N;ENSP00000385499:T457N;ENSP00000385701:T457N;ENSP00000378236:T457N;ENSP00000311493:T457N;ENSP00000378234:T457N	ENSP00000310969:T457N	T	+	2	0	STON1-GTF2A1L;STON1	48662646	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.549000	0.67261	2.884000	0.98904	0.655000	0.94253	ACC		0.373	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		52	76	1	0	6.3008e-33	1	6.91552e-33	52	76				
ZNF33B	7582	broad.mit.edu	37	10	43089024	43089024	+	Silent	SNP	T	T	C	rs140001885		TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr10:43089024T>C	ENST00000359467.3	-	5	1488	c.1374A>G	c.(1372-1374)gtA>gtG	p.V458V	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	458					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(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTCTCTGGTGTACTGTAAGGT	0.403																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000359467.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(1372-1374)gtA>gtG		zinc finger protein 33B		T		1,4405	2.1+/-5.4	0,1,2202	101.0	98.0	99.0		1374	1.4	1.0	10	dbSNP_134	99	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ZNF33B	NM_006955.1		0,4,6499	CC,CT,TT		0.0349,0.0227,0.0308		458/779	43089024	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43089024T>C	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1374A>G	10.37:g.43089024T>C						ZNF33B_ENST00000486187.1_RNA	p.V458V	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN			5	1488	-			458					Q06731|Q32MA2|Q86XY8|Q8NDW3	Silent	SNP	ENST00000359467.3	37	c.1374A>G	CCDS7198.1																																																																																				0.403	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		3	66	0	0	0	1	0	3	66				
OR2G6	391211	broad.mit.edu	37	1	248685210	248685210	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr1:248685210A>T	ENST00000343414.4	+	1	295	c.263A>T	c.(262-264)aAa>aTa	p.K88I		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGAATAAGAAAGACAAAACC	0.517																																						ENST00000343414.4																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(262-264)aAa>aTa		olfactory receptor, family 2, subfamily G, member 6							122.0	116.0	118.0					1																	248685210		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685210A>T		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.263A>T	1.37:g.248685210A>T	ENSP00000341291:p.Lys88Ile						p.K88I	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	295	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	88					B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.263A>T	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	2.792	-0.251010	0.05867	.	.	ENSG00000188558	ENST00000343414	T	0.01313	5.02	3.68	-4.18	0.03846	GPCR, rhodopsin-like superfamily (1);	0.671285	0.12837	U	0.435123	T	0.01421	0.0046	L	0.46741	1.465	0.09310	N	1	B	0.25235	0.121	B	0.20955	0.032	T	0.32134	-0.9918	10	0.52906	T	0.07	.	6.4363	0.21825	0.3253:0.3587:0.3161:0.0	.	88	Q5TZ20	OR2G6_HUMAN	I	88	ENSP00000341291:K88I	ENSP00000341291:K88I	K	+	2	0	OR2G6	246751833	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.091000	0.11146	-1.859000	0.01156	-2.224000	0.00294	AAA		0.517	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		39	90	0	0	0	1	0	39	90				
CXCL13	10563	broad.mit.edu	37	4	78528958	78528958	+	Missense_Mutation	SNP	C	C	T	rs150188610		TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr4:78528958C>T	ENST00000286758.4	+	3	244	c.166C>T	c.(166-168)Cgt>Tgt	p.R56C		NM_006419.2	NP_006410.1	O43927	CXL13_HUMAN	chemokine (C-X-C motif) ligand 13	56					activation of Rap GTPase activity (GO:0032861)|B cell chemotaxis (GO:0035754)|B cell chemotaxis across high endothelial venule (GO:0035769)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|chronic inflammatory response (GO:0002544)|defense response to bacterium (GO:0042742)|endothelial cell chemotaxis to fibroblast growth factor (GO:0035768)|germinal center formation (GO:0002467)|immune response (GO:0006955)|lymph node development (GO:0048535)|lymphocyte chemotaxis across high endothelial venule (GO:0002518)|negative regulation of endothelial cell chemotaxis to fibroblast growth factor (GO:2000545)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of integrin activation (GO:0033625)|positive regulation of T cell chemotaxis (GO:0010820)|regulation of angiogenesis (GO:0045765)|regulation of humoral immune response (GO:0002920)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR10 chemokine receptor binding (GO:0031735)|chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|CXCR5 chemokine receptor binding (GO:0031724)|fibroblast growth factor binding (GO:0017134)|heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|receptor agonist activity (GO:0048018)			large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1)	4						AATCTTGCCCCGTGGGAATGG	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		17547	0.001		0.0	False		,,,				2504	0.0					ENST00000286758.4																			0				large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1)	4						c.(166-168)Cgt>Tgt		chemokine (C-X-C motif) ligand 13							110.0	102.0	104.0					4																	78528958		2203	4300	6503	SO:0001583	missense	10563				activation of Rap GTPase activity|B cell chemotaxis|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|positive regulation of T cell chemotaxis|regulation of angiogenesis|regulation of humoral immune response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity	g.chr4:78528958C>T	AJ002211	CCDS3582.1	4q21	2013-02-25	2008-08-29	2002-08-23	ENSG00000156234	ENSG00000156234		"""Endogenous ligands"""	10639	protein-coding gene	gene with protein product	"""B-cell chemoattractant"""	605149	"""small inducible cytokine B subfamily (Cys-X-Cys motif), member 13 (B-cell chemoattractant)"""	SCYB13		9463416, 9486651	Standard	NM_006419		Approved	BLC, BCA-1, BLR1L, ANGIE, ANGIE2	uc003hkr.3	O43927	OTTHUMG00000130201	ENST00000286758.4:c.166C>T	4.37:g.78528958C>T	ENSP00000286758:p.Arg56Cys						p.R56C	NM_006419.2	NP_006410.1	O43927	CXL13_HUMAN			3	244	+			56						Missense_Mutation	SNP	ENST00000286758.4	37	c.166C>T	CCDS3582.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.011704	0.54468	.	.	ENSG00000156234	ENST00000286758	T	0.04970	3.52	4.74	3.85	0.44370	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.500904	0.20600	N	0.089162	T	0.17323	0.0416	L	0.53249	1.67	0.32965	D	0.521587	D	0.89917	1.0	D	0.65773	0.938	T	0.09422	-1.0675	10	0.62326	D	0.03	-8.1945	11.1366	0.48378	0.0:0.7655:0.2345:0.0	.	56	O43927	CXL13_HUMAN	C	56	ENSP00000286758:R56C	ENSP00000286758:R56C	R	+	1	0	CXCL13	78747982	0.406000	0.25344	0.811000	0.32455	0.035000	0.12851	0.624000	0.24462	1.352000	0.45808	0.563000	0.77884	CGT		0.383	CXCL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252519.1			13	58	0	0	0	1	0	13	58				
THRA	7067	broad.mit.edu	37	17	38240101	38240101	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr17:38240101G>A	ENST00000264637.4	+	5	816	c.236G>A	c.(235-237)cGc>cAc	p.R79H	THRA_ENST00000450525.2_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H|THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	79					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R79H(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTCTTTCGCCGCACAATCCAG	0.547																																						ENST00000450525.2																			2	Substitution - Missense(2)	p.R79H(2)	kidney(2)	endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(235-237)cGc>cAc		thyroid hormone receptor, alpha	Levothyroxine(DB00451)|Liothyronine(DB00279)						145.0	129.0	134.0					17																	38240101		2203	4300	6503	SO:0001583	missense	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38240101G>A	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.236G>A	17.37:g.38240101G>A	ENSP00000264637:p.Arg79His					THRA_ENST00000264637.4_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H|THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H	p.R79H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN			5	727	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	79					A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.236G>A	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125665	0.94429	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3	5.31	4.33	0.51752	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	H	0.99475	4.585	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.007	D;D;B	0.97110	1.0;1.0;0.007	D	0.97246	0.9894	10	0.87932	D	0	.	14.0146	0.64517	0.0753:0.0:0.9247:0.0	.	79;79;79	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	H	79	ENSP00000377679:R79H;ENSP00000264637:R79H;ENSP00000395641:R79H;ENSP00000443972:R79H	ENSP00000264637:R79H	R	+	2	0	THRA	35493627	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	7.932000	0.87634	2.477000	0.83638	0.430000	0.28490	CGC		0.547	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			4	128	0	0	0	1	0	4	128				
MRPS31P5	100887750	broad.mit.edu	37	13	52742281	52742281	+	RNA	SNP	A	A	C			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr13:52742281A>C	ENST00000451298.1	-	0	3358				MRPS31P5_ENST00000416599.1_RNA																							AAGGGCTCAGAGAACTGACCC	0.522																																						ENST00000451298.1																			0																																																			0							g.chr13:52742281A>C																													13.37:g.52742281A>C						RP11-64P12.8_ENST00000606031.1_RNA								0	3358	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.522	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			8	31	0	0	0	1	0	8	31				
IGHG4	3503	broad.mit.edu	37	14	106091309	106091309	+	RNA	SNP	G	G	A	rs587601903		TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr14:106091309G>A	ENST00000390543.2	-	0	584							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										ACTCCTTGCCGTTCAGCCAGT	0.592													N|||	1	0.000199681	0.0	0.0014	5008	,	,		27604	0.0		0.0	False		,,,				2504	0.0					ENST00000390543.2																			0																				268.0	333.0	311.0					14																	106091309		2189	4283	6472			0							g.chr14:106091309G>A	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106091309G>A														0	584	-									RNA	SNP	ENST00000390543.2	37																																																																																						0.592	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		6	645	0	0	0	1	0	6	645				
SYT7	9066	broad.mit.edu	37	11	61295549	61295549	+	Missense_Mutation	SNP	C	C	T	rs382505		TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr11:61295549C>T	ENST00000263846.4	-	5	787	c.460G>A	c.(460-462)Gtg>Atg	p.V154M	SYT7_ENST00000539008.1_Missense_Mutation_p.V437M|SYT7_ENST00000542670.1_Missense_Mutation_p.V362M|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000542836.1_Missense_Mutation_p.V198M|SYT7_ENST00000535826.1_Missense_Mutation_p.V273M|SYT7_ENST00000540677.1_Missense_Mutation_p.V229M	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	154	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.			V -> L (in Ref. 1; AAB92667). {ECO:0000305}.	exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATGATCTTCACGGTGAGCGTG	0.612																																						ENST00000263846.4																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(460-462)Gtg>Atg		synaptotagmin VII							77.0	81.0	80.0					11																	61295549		2202	4299	6501	SO:0001583	missense	9066					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr11:61295549C>T	AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.460G>A	11.37:g.61295549C>T	ENSP00000263846:p.Val154Met					SYT7_ENST00000535826.1_Missense_Mutation_p.V273M|SYT7_ENST00000542836.1_Missense_Mutation_p.V198M|SYT7_ENST00000542670.1_Missense_Mutation_p.V362M|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000540677.1_Missense_Mutation_p.V229M|SYT7_ENST00000539008.1_Missense_Mutation_p.V437M	p.V154M	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN			5	787	-			154	V -> L (in Ref. 1; AAB92667).		C2 1.		F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	37	c.460G>A	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782594	0.90282	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826;ENST00000545053	T;T;T;T;T;T;T	0.80738	2.16;2.16;2.16;2.16;2.16;2.16;-1.41	4.44	4.44	0.53790	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.85682	D	0.000000	D	0.92838	0.7722	H	0.95470	3.675	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.984;0.996	D	0.95085	0.8217	10	0.87932	D	0	.	17.949	0.89046	0.0:1.0:0.0:0.0	.	229;154	F5GZU9;O43581	.;SYT7_HUMAN	M	154;229;437;198;362;273;154	ENSP00000263846:V154M;ENSP00000444201:V229M;ENSP00000439694:V437M;ENSP00000444568:V198M;ENSP00000444019:V362M;ENSP00000437720:V273M;ENSP00000443576:V154M	ENSP00000263846:V154M	V	-	1	0	SYT7	61052125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.420000	0.82092	0.561000	0.74099	GTG		0.612	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200		23	116	0	0	0	1	0	23	116				
NR5A2	2494	broad.mit.edu	37	1	200017321	200017321	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr1:200017321G>A	ENST00000367362.3	+	5	731	c.485G>A	c.(484-486)cGt>cAt	p.R162H	NR5A2_ENST00000236914.3_Missense_Mutation_p.R116H|NR5A2_ENST00000544748.1_Missense_Mutation_p.R90H	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	162					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GACCGAATGCGTGGAGGAAGG	0.478																																					Melanoma(179;1138 2773 15678 26136)	ENST00000367362.3																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(484-486)cGt>cAt		nuclear receptor subfamily 5, group A, member 2							78.0	78.0	78.0					1																	200017321		2203	4300	6503	SO:0001583	missense	2494				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200017321G>A	U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.485G>A	1.37:g.200017321G>A	ENSP00000356331:p.Arg162His					NR5A2_ENST00000236914.3_Missense_Mutation_p.R116H|NR5A2_ENST00000544748.1_Missense_Mutation_p.R90H	p.R162H	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN			5	731	+	Prostate(682;0.19)		162					B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	ENST00000367362.3	37	c.485G>A	CCDS1401.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.291742|5.291742	0.95546|0.95546	.|.	.|.	ENSG00000116833|ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748;ENST00000235480|ENST00000367357	T;T;T|.	0.56611|.	0.45;0.45;0.45|.	5.75|5.75	5.75|5.75	0.90469|0.90469	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81569|0.81569	0.4850|0.4850	M|M	0.79258|0.79258	2.445|2.445	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.80317|0.80317	-0.1433|-0.1433	9|5	.|.	.|.	.|.	.|.	20.312|20.312	0.98644|0.98644	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	116;162|.	F1D8R9;O00482|.	.;NR5A2_HUMAN|.	H|M	162;116;90;82|83	ENSP00000356331:R162H;ENSP00000236914:R116H;ENSP00000439116:R90H|.	.|.	R|V	+|+	2|1	0|0	NR5A2|NR5A2	198283944|198283944	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.998000|0.998000	0.95712|0.95712	9.747000|9.747000	0.98863|0.98863	2.866000|2.866000	0.98385|0.98385	0.650000|0.650000	0.86243|0.86243	CGT|GTG		0.478	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2			14	108	0	0	0	1	0	14	108				
PLEK	5341	broad.mit.edu	37	2	68607922	68607922	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr2:68607922G>C	ENST00000234313.7	+	3	445	c.266G>C	c.(265-267)aGa>aCa	p.R89T		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	89	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		CTGGAGGAGAGAGATGCCTGG	0.468																																						ENST00000234313.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24						c.(265-267)aGa>aCa		pleckstrin							130.0	130.0	130.0					2																	68607922		2203	4300	6503	SO:0001583	missense	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68607922G>C	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.266G>C	2.37:g.68607922G>C	ENSP00000234313:p.Arg89Thr						p.R89T	NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	3	445	+		Ovarian(717;0.0129)	89			PH 1.		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	c.266G>C	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009148	0.93346	.	.	ENSG00000115956	ENST00000234313	T	0.13538	2.58	5.8	5.8	0.92144	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.44850	0.1313	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.40534	-0.9558	10	0.72032	D	0.01	.	20.0608	0.97674	0.0:0.0:1.0:0.0	.	107;89	Q59GZ2;P08567	.;PLEK_HUMAN	T	89	ENSP00000234313:R89T	ENSP00000234313:R89T	R	+	2	0	PLEK	68461426	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.609000	0.82925	2.750000	0.94351	0.655000	0.94253	AGA		0.468	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		9	162	0	0	0	1	0	9	162				
WASH2P	375260	broad.mit.edu	37	2	114356239	114356239	+	RNA	SNP	T	T	C	rs11490622	byFrequency	TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr2:114356239T>C	ENST00000538033.2	+	0	2419							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CCTTTGCCCGTGTGTCAGACT	0.642													.|||	2373	0.473842	0.5174	0.4135	5008	,	,		16997	0.4256		0.4911	False		,,,				2504	0.4898					ENST00000538033.2																			0																																																			0							g.chr2:114356239T>C			2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114356239T>C														0	2419	+									RNA	SNP	ENST00000538033.2	37																																																																																						0.642	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1	NM_198943		4	2	0	0	0	1	0	4	2				
ARHGEF4	50649	broad.mit.edu	37	2	131797917	131797917	+	Silent	SNP	C	C	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr2:131797917C>A	ENST00000326016.5	+	8	1527	c.1008C>A	c.(1006-1008)atC>atA	p.I336I	ARHGEF4_ENST00000409303.1_Intron|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000392953.3_Silent_p.I336I|ARHGEF4_ENST00000355771.3_Silent_p.I265I|ARHGEF4_ENST00000525839.1_Silent_p.I336I|ARHGEF4_ENST00000428230.2_Intron	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	336	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TCGAGGACATCTACCGCTGCC	0.642																																						ENST00000392953.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29						c.(1006-1008)atC>atA		Rho guanine nucleotide exchange factor (GEF) 4							35.0	33.0	34.0					2																	131797917		2202	4300	6502	SO:0001819	synonymous_variant	50649				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	g.chr2:131797917C>A	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.1008C>A	2.37:g.131797917C>A						ARHGEF4_ENST00000326016.5_Silent_p.I336I|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000525839.1_Silent_p.I336I|ARHGEF4_ENST00000409303.1_Intron|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000355771.3_Silent_p.I265I	p.I336I	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.097)	8	1527	+		Prostate(154;0.055)	336			DH.		Q9HDC6|Q9UPP0	Silent	SNP	ENST00000326016.5	37	c.1008C>A	CCDS2165.1																																																																																				0.642	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			12	25	1	0	0.0931896	1	0.0953075	12	25				
KIAA1109	84162	broad.mit.edu	37	4	123166209	123166209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr4:123166209C>T	ENST00000264501.4	+	32	5324	c.4951C>T	c.(4951-4953)Cga>Tga	p.R1651*	KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.R1651*|KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.R1651*			Q2LD37	K1109_HUMAN	KIAA1109	1651					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGCTAGTACCCGACATCCAGC	0.343																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(4951-4953)Cga>Tga		KIAA1109							147.0	139.0	141.0					4																	123166209		1864	4104	5968	SO:0001587	stop_gained	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123166209C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.4951C>T	4.37:g.123166209C>T	ENSP00000264501:p.Arg1651*					KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.R1651*|KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.R1651*	p.R1651*			Q2LD37	K1109_HUMAN			32	5324	+			1651					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Nonsense_Mutation	SNP	ENST00000264501.4	37	c.4951C>T	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	C	46	12.154873	0.99641	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	.	.	.	5.75	4.91	0.64330	.	0.175671	0.23928	U	0.043166	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	10.5556	0.45114	0.1344:0.7972:0.0:0.0684	.	.	.	.	X	1651	.	ENSP00000264501:R1651X	R	+	1	2	KIAA1109	123385659	0.980000	0.34600	0.994000	0.49952	0.998000	0.95712	2.879000	0.48522	1.413000	0.46997	0.655000	0.94253	CGA		0.343	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		20	57	0	0	0	1	0	20	57				
KLF14	136259	broad.mit.edu	37	7	130418098	130418098	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr7:130418098A>C	ENST00000310992.4	-	1	790	c.763T>G	c.(763-765)Ttc>Gtc	p.F255V		NM_138693.2	NP_619638.2	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					GGGCAGGAGAAGCGCTTCTCG	0.622																																						ENST00000310992.4																			0				large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(763-765)Ttc>Gtc		Kruppel-like factor 14							54.0	52.0	53.0					7																	130418098		2203	4300	6503	SO:0001583	missense	136259				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:130418098A>C	AF490374	CCDS5825.1	7q32.3	2014-05-06			ENSG00000174595	ENSG00000266265		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	23025	protein-coding gene	gene with protein product		609393				17480121	Standard	NM_138693		Approved	BTEB5	uc003vqk.2	Q8TD94	OTTHUMG00000188298	ENST00000310992.4:c.763T>G	7.37:g.130418098A>C	ENSP00000310878:p.Phe255Val						p.F255V	NM_138693.2	NP_619638.1	Q8TD94	KLF14_HUMAN			1	790	-	Melanoma(18;0.0435)		255					Q19A42|Q19A43	Missense_Mutation	SNP	ENST00000310992.4	37	c.763T>G	CCDS5825.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.639121	0.87760	.	.	ENSG00000174595	ENST00000310992	T	0.22945	1.93	4.41	4.41	0.53225	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34725	N	0.003733	T	0.47619	0.1455	M	0.67397	2.05	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.50276	-0.8847	10	0.87932	D	0	.	12.2517	0.54601	1.0:0.0:0.0:0.0	.	255	Q8TD94	KLF14_HUMAN	V	255	ENSP00000310878:F255V	ENSP00000310878:F255V	F	-	1	0	KLF14	130068638	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.766000	0.91728	1.924000	0.55735	0.459000	0.35465	TTC		0.622	KLF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338013.1	NM_138693		8	17	0	0	0	1	0	8	17				
ARSE	415	broad.mit.edu	37	X	2853194	2853194	+	Silent	SNP	C	C	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chrX:2853194C>A	ENST00000381134.3	-	11	1515	c.1449G>T	c.(1447-1449)gtG>gtT	p.V483V	ARSE_ENST00000540563.1_Silent_p.V438V|ARSE_ENST00000545496.1_Silent_p.V508V	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	483					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGGCTGGAACACAGGCGTCA	0.507																																						ENST00000545496.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1522-1524)gtG>gtT		arylsulfatase E (chondrodysplasia punctata 1)							53.0	43.0	46.0					X																	2853194		2203	4300	6503	SO:0001819	synonymous_variant	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2853194C>A	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.1449G>T	X.37:g.2853194C>A						ARSE_ENST00000540563.1_Silent_p.V438V|ARSE_ENST00000381134.3_Silent_p.V483V	p.V508V			P51690	ARSE_HUMAN			12	1815	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	483					Q53FT2|Q53FU8	Silent	SNP	ENST00000381134.3	37	c.1524G>T	CCDS14122.1																																																																																				0.507	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		3	20	1	0	0.115264	1	0.115264	3	20				
GOLGA6L6	727832	broad.mit.edu	37	15	20743796	20743796	+	Silent	SNP	C	C	T	rs200673320		TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr15:20743796C>T	ENST00000427390.2	-	4	498	c.408G>A	c.(406-408)acG>acA	p.T136T		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	136								p.T136T(1)		NS(3)|endometrium(4)|kidney(1)|skin(3)	11						TTTTCTGACACGTAAGGATTC	0.493																																						ENST00000427390.2																			1	Substitution - coding silent(1)	p.T136T(1)	endometrium(1)	NS(3)|endometrium(4)|kidney(1)|skin(3)	11						c.(406-408)acG>acA		golgin A6 family-like 6							31.0	8.0	19.0					15																	20743796		336	402	738	SO:0001819	synonymous_variant	727832							g.chr15:20743796C>T	AK093450	CCDS45184.1	15q11.2	2014-02-12	2010-02-12		ENSG00000215405	ENSG00000277322			37225	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 6"""				Standard	NM_001145004		Approved	FLJ36131	uc001ytk.2	A8MZA4	OTTHUMG00000171663	ENST00000427390.2:c.408G>A	15.37:g.20743796C>T							p.T136T	NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN			4	498	-			136					D3YTC0	Silent	SNP	ENST00000427390.2	37	c.408G>A	CCDS45184.1																																																																																				0.493	GOLGA6L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414660.3	NM_001145004		4	62	0	0	0	1	0	4	62				
MUC16	94025	broad.mit.edu	37	19	9082770	9082770	+	Silent	SNP	A	A	G			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr19:9082770A>G	ENST00000397910.4	-	1	9248	c.9045T>C	c.(9043-9045)acT>acC	p.T3015T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3016	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCTGAAGAGAGTTGTGAGTT	0.493																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(9043-9045)acT>acC		mucin 16, cell surface associated							120.0	121.0	121.0					19																	9082770		2100	4230	6330	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9082770A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9045T>C	19.37:g.9082770A>G							p.T3015T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	9248	-			3016			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.9045T>C	CCDS54212.1																																																																																				0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		24	92	0	0	0	1	0	24	92				
CIC	23152	broad.mit.edu	37	19	42791719	42791719	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr19:42791719G>A	ENST00000575354.2	+	5	645	c.605G>A	c.(604-606)cGg>cAg	p.R202Q	CIC_ENST00000160740.3_Missense_Mutation_p.R202Q|CIC_ENST00000572681.2_Missense_Mutation_p.R1111Q	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CACATCCGGCGGCCCATGAAT	0.627			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3331-3333)cGg>cAg		capicua transcriptional repressor							63.0	67.0	66.0					19																	42791719		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791719G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.605G>A	19.37:g.42791719G>A	ENSP00000458663:p.Arg202Gln					CIC_ENST00000160740.3_Missense_Mutation_p.R202Q|CIC_ENST00000575354.2_Missense_Mutation_p.R202Q	p.R1111Q			Q96RK0	CIC_HUMAN			6	3400	+		Prostate(69;0.00682)	202			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3332G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.590280	0.66105	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.86447	0.5935	H	0.95470	3.675	0.58432	D	0.999993	D	0.89917	1.0	D	0.85130	0.997	D	0.90483	0.4461	8	0.87932	D	0	-13.7219	14.5138	0.67807	0.0:0.0:1.0:0.0	.	202	Q96RK0	CIC_HUMAN	Q	202	.	ENSP00000160740:R202Q	R	+	2	0	CIC	47483559	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.261000	0.95576	2.284000	0.76573	0.555000	0.69702	CGG		0.627	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			27	63	0	0	0	1	0	27	63				
ITGAX	3687	broad.mit.edu	37	16	31374553	31374553	+	Missense_Mutation	SNP	C	C	T	rs200458998		TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr16:31374553C>T	ENST00000268296.4	+	14	1689	c.1568C>T	c.(1567-1569)gCg>gTg	p.A523V	ITGAX_ENST00000562522.1_Missense_Mutation_p.A523V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	523					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CGCTTTGGGGCGGCTCTGACA	0.617																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(1567-1569)gCg>gTg		integrin, alpha X (complement component 3 receptor 4 subunit)							108.0	117.0	114.0					16																	31374553		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31374553C>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1568C>T	16.37:g.31374553C>T	ENSP00000268296:p.Ala523Val					ITGAX_ENST00000562522.1_Missense_Mutation_p.A523V	p.A523V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			14	1689	+			523					Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.1568C>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345086	0.82022	.	.	ENSG00000140678	ENST00000268296	T	0.24538	1.85	4.03	4.03	0.46877	.	.	.	.	.	T	0.33440	0.0863	M	0.78049	2.395	0.37132	D	0.901292	D	0.71674	0.998	B	0.43331	0.416	T	0.54430	-0.8295	9	0.66056	D	0.02	.	13.447	0.61146	0.0:1.0:0.0:0.0	.	523	P20702	ITAX_HUMAN	V	523	ENSP00000268296:A523V	ENSP00000268296:A523V	A	+	2	0	ITGAX	31282054	0.869000	0.29996	0.996000	0.52242	0.944000	0.59088	1.939000	0.40213	1.952000	0.56665	0.460000	0.39030	GCG		0.617	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		43	208	0	0	0	1	0	43	208				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			5	58	0	0	0	1	0	5	58				
PARP16	54956	broad.mit.edu	37	15	65551839	65551839	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr15:65551839G>A	ENST00000444347.2	-	4	946	c.530C>T	c.(529-531)aCc>aTc	p.T177I	PARP16_ENST00000261888.6_Missense_Mutation_p.T293I			Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	292	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell death (GO:0060548)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum tubular network (GO:0071782)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	kinase binding (GO:0019900)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|protein serine/threonine kinase activator activity (GO:0043539)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TATCATGACGGTAAACCAATG	0.428																																					NSCLC(50;885 1163 13509 21242 41978)	ENST00000261888.6																			0				kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						c.(877-879)aCc>aTc		poly (ADP-ribose) polymerase family, member 16							104.0	101.0	102.0					15																	65551839		2201	4299	6500	SO:0001583	missense	54956					integral to membrane	NAD+ ADP-ribosyltransferase activity	g.chr15:65551839G>A	AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617		"""Poly (ADP-ribose) polymerases"""	26040	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 30"""	C15orf30		15273990	Standard	NM_017851		Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000444347.2:c.530C>T	15.37:g.65551839G>A	ENSP00000396118:p.Thr177Ile					PARP16_ENST00000444347.2_Missense_Mutation_p.T177I	p.T293I	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN			6	1323	-			292					Q6PK64|Q9NX03	Missense_Mutation	SNP	ENST00000444347.2	37	c.878C>T		.	.	.	.	.	.	.	.	.	.	G	10.44	1.351757	0.24512	.	.	ENSG00000138617	ENST00000261888;ENST00000444347	T;T	0.41400	1.04;1.0	5.86	2.73	0.32206	.	0.376205	0.32386	N	0.006178	T	0.20901	0.0503	N	0.14661	0.345	0.26518	N	0.974486	B;B;B	0.15141	0.012;0.003;0.002	B;B;B	0.15484	0.013;0.007;0.006	T	0.23261	-1.0193	10	0.12766	T	0.61	-2.558	7.3252	0.26551	0.3407:0.0:0.6593:0.0	.	293;177;292	Q8N5Y8-3;Q8N5Y8-2;Q8N5Y8	.;.;PAR16_HUMAN	I	293;177	ENSP00000261888:T293I;ENSP00000396118:T177I	ENSP00000261888:T293I	T	-	2	0	PARP16	63338892	1.000000	0.71417	0.466000	0.27168	0.873000	0.50193	4.282000	0.58971	0.248000	0.21435	0.655000	0.94253	ACC		0.428	PARP16-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000418174.1	NM_017851		4	161	0	0	0	1	0	4	161				
CTB-134H23.3	0	broad.mit.edu	37	16	29113369	29113369	+	RNA	SNP	G	G	C			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr16:29113369G>C	ENST00000562618.1	-	0	1840				RRN3P2_ENST00000564580.1_RNA																							GATGCTGCCAGTCATTAGGAG	0.488																																						ENST00000564580.1																			0																																																			0							g.chr16:29113369G>C																													16.37:g.29113369G>C														0	1269	+									RNA	SNP	ENST00000562618.1	37			.	.	.	.	.	.	.	.	.	.	g	2.571	-0.299739	0.05532	.	.	ENSG00000103472	ENST00000427965	.	.	.	2.2	2.2	0.27929	.	0.075084	0.52532	D	0.000062	T	0.33847	0.0877	.	.	.	.	.	.	.	.	.	.	.	.	T	0.31861	-0.9928	5	0.21540	T	0.41	.	4.8761	0.13656	0.1838:0.0:0.8162:0.0	.	.	.	.	L	421	.	ENSP00000398611:V421L	V	+	1	0	AC009093.1	29020870	1.000000	0.71417	0.362000	0.25862	0.198000	0.23893	3.441000	0.52893	1.231000	0.43661	0.393000	0.25936	GTC		0.488	CTB-134H23.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433241.1			9	50	0	0	0	1	0	9	50				
CROCCP2	84809	broad.mit.edu	37	1	16945144	16945145	+	lincRNA	INS	-	-	A	rs71270820|rs528103268|rs199910905	byFrequency	TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr1:16945144_16945145insA	ENST00000412962.1	-	0	2374_2375				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											ctgttaaaaGCAGACAATACTG	0.272																																						ENST00000412962.1																			0																																																			0							g.chr1:16945144_16945145insA	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945145_16945145dupA														0	2374_2375	-								Q8NF65|Q96FR5|Q9BRE8	RNA	INS	ENST00000412962.1	37																																																																																						0.272	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		2	4						2	4	---	---	---	---
WNT8A	7478	broad.mit.edu	37	5	137424684	137424685	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr5:137424684_137424685delTT	ENST00000398754.1	+	5	441_442	c.436_437delTT	c.(436-438)tttfs	p.F146fs	WNT8A_ENST00000506684.1_Frame_Shift_Del_p.F164fs	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	146					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|endoderm development (GO:0007492)|establishment of organ orientation (GO:0048561)|neural crest cell fate commitment (GO:0014034)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|polarity specification of anterior/posterior axis (GO:0009949)|polarity specification of proximal/distal axis (GO:0010085)|regulation of protein localization (GO:0032880)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTCCAAACTCTTTGTGGACAGT	0.51																																						ENST00000506684.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18						c.(490-492)tfs		wingless-type MMTV integration site family, member 8A																																				SO:0001589	frameshift_variant	7478				brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	g.chr5:137424684_137424685delTT	AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492		"""Wingless-type MMTV integration sites"""	12788	protein-coding gene	gene with protein product		606360				11408932	Standard	XM_005272076		Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000398754.1:c.436_437delTT	5.37:g.137424684_137424685delTT	ENSP00000381739:p.Phe146fs					WNT8A_ENST00000398754.1_Frame_Shift_Del_p.F146fs	p.F164fs			Q9H1J5	WNT8A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		4	726_727	+			146					Q96S51	Frame_Shift_Del	DEL	ENST00000398754.1	37	c.490_491delTT	CCDS43368.1																																																																																				0.510	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280395.1	NM_058244		19	175						19	175	---	---	---	---
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs200886831|rs551189349|rs199544375		TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777																																						ENST00000244496.5																			2	Deletion - In frame(2)	p.A8_G9delAG(2)	prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						c.(22-27)del		ribosomal RNA processing 36 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42989414_42989419delGCCGGG	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.22_27delGCCGGG	6.37:g.42989420_42989425delGCCGGG	ENSP00000244496:p.Ala14_Gly15del						p.AG14del	NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN			1	32_37	+			14					Q9BRF6|Q9P0C8	In_Frame_Del	DEL	ENST00000244496.5	37	c.22_27delGCCGGG	CCDS34453.1																																																																																				0.777	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		5	5						5	5	---	---	---	---
HERC2P9	440248	broad.mit.edu	37	15	28927411	28927415	+	RNA	DEL	AGGGA	AGGGA	-	rs201334001	byFrequency	TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr15:28927411_28927415delAGGGA	ENST00000528584.1	+	0	1811					NR_036443.1				hect domain and RLD 2 pseudogene 9																		GTTTAAAAATagggaagggaaggga	0.463														2365	0.472244	0.6921	0.4539	5008	,	,		14215	0.753		0.1183	False		,,,				2504	0.2628					ENST00000528584.1																			0																																																			0							g.chr15:28927411_28927415delAGGGA	BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28927421_28927425delAGGGA								NR_036443.1						0	1811	+									RNA	DEL	ENST00000528584.1	37																																																																																						0.463	HERC2P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393268.1	NR_036443		2	4						2	4	---	---	---	---
CASKIN1	57524	broad.mit.edu	37	16	2246363	2246364	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr16:2246363_2246364delTG	ENST00000343516.6	-	1	162_163	c.70_71delCA	c.(70-72)cagfs	p.Q24fs		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	24					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CCGCGGCCTCTGCAGCAGCCTC	0.812																																						ENST00000343516.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(70-72)gfs		CASK interacting protein 1																																				SO:0001589	frameshift_variant	57524				signal transduction	cytoplasm		g.chr16:2246363_2246364delTG	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.70_71delCA	16.37:g.2246363_2246364delTG	ENSP00000345436:p.Gln24fs						p.Q24fs	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			1	162_163	-			24					Q9P2P0	Frame_Shift_Del	DEL	ENST00000343516.6	37	c.70_71delCA	CCDS42103.1																																																																																				0.812	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		2	4						2	4	---	---	---	---
LRRC37A2	474170	broad.mit.edu	37	17	44630803	44630812	+	Frame_Shift_Del	DEL	AAGGATTCTC	AAGGATTCTC	-			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr17:44630803_44630812delAAGGATTCTC	ENST00000576629.1	+	12	5342_5351	c.4847_4856delAAGGATTCTC	c.(4846-4857)gaaggattctcafs	p.EGFS1616fs	ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000570550.1_Intron|LRRC37A2_ENST00000333412.3_Frame_Shift_Del_p.EGFS1616fs			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1616						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GAAGATGAAGAAGGATTCTCAAGGTAAATA	0.395																																						ENST00000576629.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15						c.(4846-4857)gafs		leucine rich repeat containing 37, member A2																																				SO:0001589	frameshift_variant	474170					integral to membrane		g.chr17:44630803_44630812delAAGGATTCTC	AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.4847_4856delAAGGATTCTC	17.37:g.44630803_44630812delAAGGATTCTC	ENSP00000459551:p.Glu1616fs					ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000573185.1_Intron|LRRC37A2_ENST00000333412.3_Frame_Shift_Del_p.EGFS1616fs|ARL17A_ENST00000570550.1_Intron|ARL17A_ENST00000329240.4_Intron	p.EGFS1616fs			A6NM11	L37A2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.232)	12	5342_5351	+		Melanoma(429;0.211)	1616					B7ZMC3	Frame_Shift_Del	DEL	ENST00000576629.1	37	c.4847_4856delAAGGATTCTC	CCDS42353.1																																																																																				0.395	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2	NM_001006607		22	76						22	76	---	---	---	---
