#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
CAMTA1	23261	broad.mit.edu	37	1	7798426	7798426	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:7798426C>T	ENST00000303635.7	+	16	4273	c.4066C>T	c.(4066-4068)Cgg>Tgg	p.R1356W	CAMTA1_ENST00000439411.2_Missense_Mutation_p.R1356W	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1356					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGTGCGTCCACGGGAACCAAT	0.512			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.3				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(4066-4068)Cgg>Tgg		Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.							87.0	76.0	80.0					1																	7798426		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7798426C>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.4066C>T	1.37:g.7798426C>T	ENSP00000306522:p.Arg1356Trp					CAMTA1_uc010nzv.1_Missense_Mutation_p.R443W|CAMTA1_uc001aok.4_Missense_Mutation_p.R399W|CAMTA1_uc001aoj.3_Missense_Mutation_p.R312W	p.R1356W	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	15	4273	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	1356					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.4066C>T	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606697	0.66558	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646	T;T	0.28666	1.63;1.6	4.92	3.98	0.46160	.	0.000000	0.85682	D	0.000000	T	0.46151	0.1378	L	0.50333	1.59	0.49299	D	0.999776	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.70935	0.971;0.936;0.952;0.918	T	0.29941	-0.9995	10	0.37606	T	0.19	-22.4483	12.4095	0.55459	0.3157:0.6843:0.0:0.0	.	1356;443;312;1356	Q9Y6Y1-2;B4DXR3;Q7Z7P1;Q9Y6Y1	.;.;.;CMTA1_HUMAN	W	1356;1356;443;312	ENSP00000306522:R1356W;ENSP00000402561:R1356W	ENSP00000306522:R1356W	R	+	1	2	CAMTA1	7721013	0.999000	0.42202	0.997000	0.53966	0.994000	0.84299	2.738000	0.47401	1.126000	0.42016	0.655000	0.94253	CGG		0.512	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215	
PADI3	51702	broad.mit.edu	37	1	17575699	17575699	+	Missense_Mutation	SNP	G	G	A	rs200183399	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:17575699G>A	ENST00000375460.3	+	1	107	c.67G>A	c.(67-69)Gtg>Atg	p.V23M		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	23					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGTGGCTGGCGTGGAGACCCT	0.617													G|||	2	0.000399361	0.0	0.0029	5008	,	,		16995	0.0		0.0	False		,,,				2504	0.0					uc001bai.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(67-69)Gtg>Atg		Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	L-Citrulline(DB00155)						154.0	131.0	139.0					1																	17575699		2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17575699G>A	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.67G>A	1.37:g.17575699G>A	ENSP00000364609:p.Val23Met						p.V23M	NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	107	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	23					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.67G>A	CCDS179.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.44	2.535639	0.45176	.	.	ENSG00000142619	ENST00000375460	T	0.11712	2.75	5.56	4.64	0.57946	Cupredoxin (1);Protein-arginine deiminase (PAD) N-terminal (1);	0.453059	0.22672	N	0.057043	T	0.08268	0.0206	N	0.21373	0.66	0.30697	N	0.750674	B	0.22146	0.065	B	0.24155	0.051	T	0.08229	-1.0732	10	0.35671	T	0.21	-17.1493	10.6214	0.45483	0.0894:0.0:0.9106:0.0	.	23	Q9ULW8	PADI3_HUMAN	M	23	ENSP00000364609:V23M	ENSP00000364609:V23M	V	+	1	0	PADI3	17448286	0.958000	0.32768	0.999000	0.59377	0.997000	0.91878	1.380000	0.34351	1.349000	0.45751	0.561000	0.74099	GTG		0.617	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1		
GRHL3	57822	broad.mit.edu	37	1	24663202	24663202	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:24663202C>T	ENST00000350501.5	+	4	624	c.497C>T	c.(496-498)cCc>cTc	p.P166L	GRHL3_ENST00000361548.4_Missense_Mutation_p.P166L|GRHL3_ENST00000356046.2_Missense_Mutation_p.P120L|GRHL3_ENST00000342072.4_Missense_Mutation_p.P73L|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000236255.4_Missense_Mutation_p.P171L	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	166					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TACCTGTTACCCACCACTGAT	0.602																																						uc021oiw.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(496-498)cCc>cTc		Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.							90.0	98.0	95.0					1																	24663202		2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24663202C>T	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.497C>T	1.37:g.24663202C>T	ENSP00000288955:p.Pro166Leu					GRHL3_uc001bix.3_Missense_Mutation_p.P166L|GRHL3_uc021oix.1_Missense_Mutation_p.P120L|GRHL3_uc001biy.3_Missense_Mutation_p.P171L|GRHL3_uc001biz.3_Missense_Mutation_p.P73L	p.P166L	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	3	727	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	166					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.497C>T	CCDS252.2	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566943	0.45694	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.12569	2.98;2.67;2.96;2.97;2.98	6.02	6.02	0.97574	.	0.072392	0.64402	D	0.000016	T	0.16428	0.0395	L	0.57536	1.79	0.54753	D	0.999984	B;P;B	0.35793	0.18;0.521;0.275	B;B;B	0.26202	0.03;0.067;0.067	T	0.01397	-1.1365	10	0.39692	T	0.17	-29.6949	19.5289	0.95219	0.0:1.0:0.0:0.0	.	120;171;166	A2A297;Q8TE85-2;G3XAF0	.;.;.	L	166;73;166;120;171	ENSP00000354943:P166L;ENSP00000340543:P73L;ENSP00000288955:P166L;ENSP00000348333:P120L;ENSP00000236255:P171L	ENSP00000236255:P171L	P	+	2	0	GRHL3	24535789	0.966000	0.33281	1.000000	0.80357	0.474000	0.32979	3.937000	0.56575	2.865000	0.98341	0.655000	0.94253	CCC		0.602	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180	
MCOLN3	55283	broad.mit.edu	37	1	85499910	85499910	+	Missense_Mutation	SNP	C	C	T	rs144793042	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:85499910C>T	ENST00000370589.2	-	4	473	c.421G>A	c.(421-423)Gtt>Att	p.V141I	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370587.1_Missense_Mutation_p.V141I|MCOLN3_ENST00000341115.4_Missense_Mutation_p.V85I	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	141					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TGATTCCCAACGGAGACATTG	0.468													C|||	3	0.000599042	0.0023	0.0	5008	,	,		19208	0.0		0.0	False		,,,				2504	0.0					uc001dkp.3																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34						c.(421-423)Gtt>Att		Homo sapiens mucolipin 3 (MCOLN3), transcript variant 1, mRNA.		C	ILE/VAL	8,4398	14.3+/-33.2	0,8,2195	128.0	110.0	116.0		421	3.9	0.4	1	dbSNP_134	116	0,8600		0,0,4300	yes	missense	MCOLN3	NM_018298.9	29	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	benign	141/554	85499910	8,12998	2203	4300	6503	SO:0001583	missense	55283					integral to membrane	ion channel activity	g.chr1:85499910C>T	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.421G>A	1.37:g.85499910C>T	ENSP00000359621:p.Val141Ile					MCOLN3_uc001dkq.3_Missense_Mutation_p.V85I|MCOLN3_uc001dkr.3_Missense_Mutation_p.V141I|MCOLN3_uc001dks.4_5'UTR	p.V141I	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	3	568	-			141					Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	c.421G>A	CCDS701.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.63	1.405559	0.25378	0.001816	0.0	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115;ENST00000370587	T;T;T	0.59906	0.23;0.23;0.23	5.86	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.30070	0.0753	L	0.39147	1.195	0.31994	N	0.604203	P;D;D	0.57257	0.911;0.979;0.965	B;P;B	0.44772	0.369;0.46;0.271	T	0.08269	-1.0730	10	0.13853	T	0.58	2.7027	11.2681	0.49122	0.126:0.8075:0.0:0.0664	.	141;85;141	B1ANB7;Q8TDD5-2;Q8TDD5	.;.;MCLN3_HUMAN	I	141;141;85;85;141	ENSP00000359621:V141I;ENSP00000342698:V85I;ENSP00000359619:V141I	ENSP00000304843:V141I	V	-	1	0	MCOLN3	85272498	0.181000	0.23161	0.397000	0.26308	0.107000	0.19398	0.771000	0.26633	1.441000	0.47550	0.655000	0.94253	GTT		0.468	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298	
RGL1	23179	broad.mit.edu	37	1	183895313	183895313	+	Nonsense_Mutation	SNP	A	A	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:183895313A>T	ENST00000360851.3	+	18	2372	c.2194A>T	c.(2194-2196)Aaa>Taa	p.K732*	RGL1_ENST00000536277.1_Nonsense_Mutation_p.K730*|RGL1_ENST00000539189.1_Nonsense_Mutation_p.K703*|RGL1_ENST00000304685.4_Nonsense_Mutation_p.K767*			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	732	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CATTTTGCGCAAAAAGAACTC	0.443																																						uc001gqm.3																			0		p.R766H(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(2299-2301)Aaa>Taa		Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.							108.0	103.0	104.0					1																	183895313		2203	4300	6503	SO:0001587	stop_gained	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183895313A>T	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.2194A>T	1.37:g.183895313A>T	ENSP00000354097:p.Lys732*					RGL1_uc010pog.2_Nonsense_Mutation_p.K730*|RGL1_uc010poh.2_Nonsense_Mutation_p.K730*|RGL1_uc001gqo.3_Nonsense_Mutation_p.K732*|RGL1_uc010poi.2_Nonsense_Mutation_p.K703*	p.K767*	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN			18	2760	+			732					Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Nonsense_Mutation	SNP	ENST00000360851.3	37	c.2299A>T		.	.	.	.	.	.	.	.	.	.	A	42	9.497760	0.99187	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	.	.	.	5.37	5.37	0.77165	.	0.163209	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3322	0.74223	1.0:0.0:0.0:0.0	.	.	.	.	X	767;767;730;732;703	.	ENSP00000303192:K767X	K	+	1	0	RGL1	182161936	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.797000	0.55514	2.153000	0.67306	0.528000	0.53228	AAA		0.443	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149	
DISP1	84976	broad.mit.edu	37	1	223116326	223116326	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:223116326G>A	ENST00000284476.6	+	2	325	c.161G>A	c.(160-162)gGa>gAa	p.G54E	DISP1_ENST00000360254.2_Missense_Mutation_p.G54E|DISP1_ENST00000495684.1_Intron	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	54					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AGTCCAAATGGATGCCTGCAA	0.507																																						uc001hnu.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(160-162)gGa>gAa		Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.							216.0	188.0	197.0					1																	223116326		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223116326G>A	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.161G>A	1.37:g.223116326G>A	ENSP00000284476:p.Gly54Glu						p.G54E	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	3	487	+			54					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.161G>A	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188681	0.78789	.	.	ENSG00000154309	ENST00000360254;ENST00000284476	T;D	0.96232	-0.34;-3.95	5.62	5.62	0.85841	.	0.218099	0.38837	N	0.001542	D	0.96944	0.9002	M	0.69823	2.125	0.54753	D	0.999985	D	0.60575	0.988	P	0.51657	0.676	D	0.96477	0.9353	10	0.45353	T	0.12	-19.5086	19.6445	0.95771	0.0:0.0:1.0:0.0	.	54	Q96F81	DISP1_HUMAN	E	54	ENSP00000355848:G54E;ENSP00000284476:G54E	ENSP00000284476:G54E	G	+	2	0	DISP1	221182949	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.159000	0.77483	2.652000	0.90054	0.650000	0.86243	GGA		0.507	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890	
RYR2	6262	broad.mit.edu	37	1	237780709	237780709	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:237780709G>C	ENST00000366574.2	+	38	6156	c.5839G>C	c.(5839-5841)Gtc>Ctc	p.V1947L	RYR2_ENST00000360064.6_Missense_Mutation_p.V1945L|RYR2_ENST00000542537.1_Missense_Mutation_p.V1931L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1947	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATACAACGAAGTCATGCAAGC	0.448																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(5839-5841)Gtc>Ctc		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							103.0	97.0	99.0					1																	237780709		2009	4202	6211	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237780709G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5839G>C	1.37:g.237780709G>C	ENSP00000355533:p.Val1947Leu						p.V1947L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5959	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1947			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5839G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	5.827	0.336823	0.11013	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.70749	-0.51;-0.51;-0.51	5.39	5.39	0.77823	.	0.000000	0.56097	D	0.000028	T	0.48519	0.1504	N	0.11154	0.105	0.80722	D	1	B	0.13145	0.007	B	0.12837	0.008	T	0.46871	-0.9160	10	0.06625	T	0.88	.	14.0546	0.64759	0.0:0.0:0.8492:0.1508	.	1947	Q92736	RYR2_HUMAN	L	1947;1945;1931	ENSP00000355533:V1947L;ENSP00000353174:V1945L;ENSP00000443798:V1931L	ENSP00000353174:V1945L	V	+	1	0	RYR2	235847332	1.000000	0.71417	0.995000	0.50966	0.931000	0.56810	3.824000	0.55723	2.517000	0.84864	0.650000	0.86243	GTC		0.448	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237863752	237863752	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:237863752G>A	ENST00000366574.2	+	65	9669	c.9352G>A	c.(9352-9354)Gga>Aga	p.G3118R	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.G3116R|RYR2_ENST00000542537.1_Missense_Mutation_p.G3102R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3118					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCATCAGTTCGGAGAAGACCT	0.373																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(9352-9354)Gga>Aga		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							39.0	37.0	37.0					1																	237863752		1847	4089	5936	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237863752G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9352G>A	1.37:g.237863752G>A	ENSP00000355533:p.Gly3118Arg					RYR2_uc010pxz.1_Missense_Mutation_p.G73R	p.G3118R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		64	9472	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3118					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.9352G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603669	0.87157	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288;ENST00000540213	T;T;T	0.64991	-0.13;1.61;-0.13	4.88	4.88	0.63580	.	0.000000	0.56097	U	0.000021	T	0.82102	0.4964	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.85881	0.1422	10	0.87932	D	0	.	18.4026	0.90522	0.0:0.0:1.0:0.0	.	3118	Q92736	RYR2_HUMAN	R	3118;3116;3102;73;113	ENSP00000355533:G3118R;ENSP00000353174:G3116R;ENSP00000443798:G3102R	ENSP00000353174:G3116R	G	+	1	0	RYR2	235930375	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.813000	0.99286	2.397000	0.81536	0.563000	0.77884	GGA		0.373	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
PCDH15	65217	broad.mit.edu	37	10	55755492	55755492	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr10:55755492G>A	ENST00000320301.6	-	21	3179	c.2785C>T	c.(2785-2787)Cga>Tga	p.R929*	PCDH15_ENST00000373955.1_Nonsense_Mutation_p.R929*|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.R929*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.R907*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.R929*|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.R892*|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.R858*|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.R934*|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Nonsense_Mutation_p.R936*|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.R936*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.R929*|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.R540*	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	929	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.		R -> Q (in dbSNP:rs2135720). {ECO:0000269|PubMed:11487575, ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:22815625}.		equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGTATATTCGTTTACTAAAG	0.408										HNSCC(58;0.16)																												uc010qhy.1																			0		p.G933G(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237	GRCh37	CM050735	PCDH15	M		c.(2800-2802)Cga>Tga		Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.							123.0	110.0	114.0					10																	55755492		2203	4300	6503	SO:0001587	stop_gained	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55755492G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2785C>T	10.37:g.55755492G>A	ENSP00000322604:p.Arg929*	HNSCC(58;0.16)				PCDH15_uc010qhq.2_Nonsense_Mutation_p.R934*|PCDH15_uc010qhr.2_Nonsense_Mutation_p.R929*|PCDH15_uc021pqv.1_Nonsense_Mutation_p.R929*|PCDH15_uc021pqw.1_Nonsense_Mutation_p.R941*|PCDH15_uc010qht.2_Nonsense_Mutation_p.R936*|PCDH15_uc021pqx.1_Nonsense_Mutation_p.R929*|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Nonsense_Mutation_p.R929*|PCDH15_uc021pqz.1_Nonsense_Mutation_p.R907*|PCDH15_uc010qhv.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.R892*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.R858*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qia.1_Nonsense_Mutation_p.R907*|PCDH15_uc001jju.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qib.1_Nonsense_Mutation_p.R907*|PCDH15_uc001jjw.3_Nonsense_Mutation_p.R929*	p.R934*	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN			21	3195	-		Melanoma(3;0.117)|Lung SC(717;0.238)	929			Cadherin 9.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	ENST00000320301.6	37	c.2800C>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	39	7.843184	0.98519	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	.	.	.	5.93	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6611	0.45702	0.0:0.127:0.6103:0.2626	.	.	.	.	X	936;934;929;929;540;936;892;929;907;929;929;934;858;929	.	ENSP00000322604:R929X	R	-	1	2	PCDH15	55425498	0.008000	0.16893	0.987000	0.45799	0.137000	0.21094	1.293000	0.33353	1.500000	0.48636	-0.152000	0.13540	CGA		0.408	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
STAMBPL1	57559	broad.mit.edu	37	10	90665247	90665247	+	Silent	SNP	A	A	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr10:90665247A>T	ENST00000371926.3	+	3	1036	c.78A>T	c.(76-78)ccA>ccT	p.P26P	STAMBPL1_ENST00000371927.3_Silent_p.P26P|STAMBPL1_ENST00000371924.1_Silent_p.P26P	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	26						membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		CCCTAAGCCCAGAAGAGCGAG	0.418																																						uc001kfk.3																			0				breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11						c.(76-78)ccA>ccT		Homo sapiens STAM binding protein-like 1 (STAMBPL1), mRNA.							138.0	127.0	131.0					10																	90665247		2203	4300	6503	SO:0001819	synonymous_variant	57559						metal ion binding|metallopeptidase activity|protein binding	g.chr10:90665247A>T	AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"""associated molecule with the SH3 domain of STAM (AMSH) like protein"", ""associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"""	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.78A>T	10.37:g.90665247A>T						STAMBPL1_uc010qmx.1_Silent_p.P26P|STAMBPL1_uc009xto.3_Non-coding_Transcript|STAMBPL1_uc001kfl.3_Silent_p.P26P|STAMBPL1_uc001kfm.3_5'Flank	p.P26P	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)	2	501	+		Colorectal(252;0.0381)	26					B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Silent	SNP	ENST00000371926.3	37	c.78A>T	CCDS7391.1																																																																																				0.418	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049283.1	NM_020799	
OR51S1	119692	broad.mit.edu	37	11	4870156	4870156	+	Missense_Mutation	SNP	C	C	T	rs143553379		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:4870156C>T	ENST00000322101.2	-	1	358	c.283G>A	c.(283-285)Gct>Act	p.A95T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAGCACCAGCAAGGGCGATG	0.537																																						uc010qyo.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(283-285)Gct>Act		Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.		C	THR/ALA	2,4400	4.2+/-10.8	0,2,2199	117.0	97.0	104.0		283	0.1	0.0	11	dbSNP_134	104	0,8596		0,0,4298	no	missense	OR51S1	NM_001004758.1	58	0,2,6497	TT,TC,CC		0.0,0.0454,0.0154	benign	95/324	4870156	2,12996	2201	4298	6499	SO:0001583	missense	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4870156C>T	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.283G>A	11.37:g.4870156C>T	ENSP00000322754:p.Ala95Thr						p.A95T	NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	283	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	95					B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	c.283G>A	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	C	5.700	0.313728	0.10789	4.54E-4	0.0	ENSG00000176922	ENST00000322101	T	0.03004	4.08	4.65	0.0889	0.14456	GPCR, rhodopsin-like superfamily (1);	0.606678	0.13779	N	0.363364	T	0.02342	0.0072	N	0.15975	0.35	0.09310	N	1	B	0.15719	0.014	B	0.16289	0.015	T	0.42649	-0.9439	10	0.72032	D	0.01	-0.4404	5.7556	0.18170	0.3442:0.4887:0.0:0.1671	.	95	Q8NGJ8	O51S1_HUMAN	T	95	ENSP00000322754:A95T	ENSP00000322754:A95T	A	-	1	0	OR51S1	4826732	0.000000	0.05858	0.017000	0.16124	0.084000	0.17831	-0.742000	0.04850	0.175000	0.19841	0.563000	0.77884	GCT		0.537	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758	
C11orf16	56673	broad.mit.edu	37	11	8953775	8953775	+	Silent	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:8953775G>A	ENST00000326053.5	-	2	187	c.81C>T	c.(79-81)gaC>gaT	p.D27D	C11orf16_ENST00000528998.1_5'UTR|C11orf16_ENST00000525780.1_Silent_p.D27D	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	27										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GAGCAGCACCGTCCCAGCCAG	0.622																																						uc001mhb.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(79-81)gaC>gaT		Homo sapiens chromosome 11 open reading frame 16 (C11orf16), mRNA.							60.0	49.0	53.0					11																	8953775		2201	4296	6497	SO:0001819	synonymous_variant	56673							g.chr11:8953775G>A	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.81C>T	11.37:g.8953775G>A						C11orf16_uc001mhc.4_Silent_p.D27D	p.D27D	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	1	205	-			27					Q53FB2|Q8N6Y9	Silent	SNP	ENST00000326053.5	37	c.81C>T	CCDS7794.1																																																																																				0.622	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643	
FOLH1	2346	broad.mit.edu	37	11	49175930	49175930	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:49175930G>A	ENST00000256999.2	-	16	1998	c.1738C>T	c.(1738-1740)Cga>Tga	p.R580*	FOLH1_ENST00000343844.4_Nonsense_Mutation_p.R272*|FOLH1_ENST00000356696.3_Nonsense_Mutation_p.R580*|FOLH1_ENST00000533034.1_Nonsense_Mutation_p.R565*|FOLH1_ENST00000340334.7_Nonsense_Mutation_p.R565*	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	580	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	ATCCCTCCTCGAACCTGGGCC	0.413																																						uc001ngy.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(1738-1740)Cga>Tga		Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	Capromab(DB00089)|L-Glutamic Acid(DB00142)						76.0	64.0	68.0					11																	49175930		2200	4278	6478	SO:0001587	stop_gained	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49175930G>A	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1738C>T	11.37:g.49175930G>A	ENSP00000256999:p.Arg580*					FOLH1_uc001ngx.3_Nonsense_Mutation_p.R12*|FOLH1_uc009yly.3_Nonsense_Mutation_p.R565*|FOLH1_uc009ylz.3_Nonsense_Mutation_p.R565*|FOLH1_uc001ngz.3_Nonsense_Mutation_p.R580*|FOLH1_uc009yma.3_Nonsense_Mutation_p.R272*	p.R580*	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN			15	1999	-			580			NAALADase.		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Nonsense_Mutation	SNP	ENST00000256999.2	37	c.1738C>T	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	G	39	7.351063	0.98228	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034	.	.	.	3.62	3.62	0.41486	.	0.000000	0.45606	D	0.000343	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	13.124	0.59342	0.0:0.0:1.0:0.0	.	.	.	.	X	580;580;565;272;565	.	ENSP00000256999:R580X	R	-	1	2	FOLH1	49132506	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.373000	0.66162	2.044000	0.60594	0.404000	0.27445	CGA		0.413	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476	
OR5D18	219438	broad.mit.edu	37	11	55587854	55587854	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:55587854C>A	ENST00000333976.4	+	1	769	c.749C>A	c.(748-750)aCc>aAc	p.T250N		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ACTGCCATCACCATCTTCCAT	0.517																																						uc010rin.2																			0		p.I249I(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(748-750)aCc>aAc		Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.							120.0	105.0	110.0					11																	55587854		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587854C>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.749C>A	11.37:g.55587854C>A	ENSP00000335025:p.Thr250Asn						p.T250N	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			0	749	+		all_epithelial(135;0.208)	250					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.749C>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	15.45	2.836688	0.50951	.	.	ENSG00000186119	ENST00000333976	T	0.39997	1.05	4.79	4.79	0.61399	GPCR, rhodopsin-like superfamily (1);	0.600012	0.13977	N	0.349746	T	0.70159	0.3192	M	0.92077	3.27	0.09310	N	1	P	0.49696	0.927	P	0.62649	0.905	T	0.64571	-0.6376	10	0.72032	D	0.01	-17.8235	12.7032	0.57045	0.0:0.8339:0.1661:0.0	.	250	Q8NGL1	OR5DI_HUMAN	N	250	ENSP00000335025:T250N	ENSP00000335025:T250N	T	+	2	0	OR5D18	55344430	0.000000	0.05858	0.998000	0.56505	0.857000	0.48899	-0.644000	0.05415	2.407000	0.81776	0.573000	0.79308	ACC		0.517	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952	
MS4A7	58475	broad.mit.edu	37	11	60150731	60150731	+	Silent	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:60150731C>T	ENST00000300184.3	+	2	313	c.117C>T	c.(115-117)aaC>aaT	p.N39N	MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000358246.1_Silent_p.N39N|MS4A7_ENST00000534016.1_Silent_p.N39N|MS4A7_ENST00000530234.2_Silent_p.N39N	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	39						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						ACCTGCAGAACGGGCTGCCAA	0.438																																						uc001npe.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						c.(115-117)aaC>aaT		Homo sapiens membrane-spanning 4-domains, subfamily A, member 7 (MS4A7), transcript variant 3, mRNA.							90.0	76.0	81.0					11																	60150731		2203	4300	6503	SO:0001819	synonymous_variant	58475					integral to membrane	receptor activity	g.chr11:60150731C>T	AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.117C>T	11.37:g.60150731C>T						MS4A7_uc001npf.3_Silent_p.N39N|MS4A7_uc001npg.3_Silent_p.N39N|MS4A7_uc001nph.3_Silent_p.N39N|MS4A14_uc001npi.3_Intron|MS4A7_uc009ymx.1_Silent_p.N39N	p.N39N	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN			1	262	+			39					A6NP53|Q6IAG8	Silent	SNP	ENST00000300184.3	37	c.117C>T	CCDS7985.1																																																																																				0.438	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1		
MRPL49	740	broad.mit.edu	37	11	64889007	64889007	+	5'Flank	SNP	A	A	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:64889007A>G	ENST00000279242.2	+	0	0				FAU_ENST00000529639.1_Missense_Mutation_p.L62P|FAU_ENST00000279259.3_Missense_Mutation_p.L62P|FAU_ENST00000525297.1_Missense_Mutation_p.L27P|FAU_ENST00000531743.1_Missense_Mutation_p.L62P|MRPL49_ENST00000531705.1_5'Flank|FAU_ENST00000529259.1_Missense_Mutation_p.L62P|MRPL49_ENST00000534078.1_5'Flank|FAU_ENST00000527548.1_Missense_Mutation_p.L62P|MRPL49_ENST00000526171.1_5'Flank|FAU_ENST00000434372.2_Missense_Mutation_p.L62P	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|ovary(1)	2						CAGGGTAGTCAGGGCCTCCAC	0.612																																						uc001ocx.3																			0				NS(3)|kidney(1)|large_intestine(2)	6						c.(184-186)cTg>cCg		Homo sapiens Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (FAU), mRNA.							69.0	67.0	67.0					11																	64889007		2201	4297	6498	SO:0001631	upstream_gene_variant	2197							g.chr11:64889007A>G		CCDS8096.1	11q13.1	2012-11-14	2001-10-16	2001-10-19	ENSG00000149792	ENSG00000149792		"""Mitochondrial ribosomal proteins / large subunits"""	1176	protein-coding gene	gene with protein product	"""neighbor of FAU"", ""next to FAU"""	606866	"""chromosome 11 open reading frame 4"""	C11orf4		8786148	Standard	NM_004927		Approved	NOF, NOF1, L49mt	uc001oda.2	Q13405	OTTHUMG00000165608		11.37:g.64889007A>G	Exception_encountered					MRPL49_uc021qle.1_5'Flank|MRPL49_uc001oda.2_5'Flank|MRPL49_uc021qlf.1_5'Flank	p.L62P	NM_001997	NP_001988	P35544	UBIM_HUMAN			2	304	-			62					B2R4G6	Missense_Mutation	SNP	ENST00000279242.2	37	c.185T>C	CCDS8096.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.218091	0.79352	.	.	ENSG00000149806	ENST00000529639;ENST00000531743;ENST00000525297;ENST00000527548;ENST00000279259;ENST00000529259;ENST00000526555;ENST00000434372	T;T;T;T;T;T;T;T	0.73469	-0.75;-0.75;0.88;-0.75;-0.75;-0.75;-0.75;-0.75	6.17	6.17	0.99709	Ubiquitin supergroup (1);Ubiquitin (2);	0.200613	0.43747	D	0.000531	D	0.87354	0.6156	M	0.86097	2.795	0.58432	D	0.999997	D;D	0.89917	0.993;1.0	D;D	0.97110	0.934;1.0	D	0.88626	0.3166	10	0.59425	D	0.04	.	14.7743	0.69713	1.0:0.0:0.0:0.0	.	62;62	E9PMS9;P35544	.;UBIM_HUMAN	P	62;62;27;62;62;62;62;62	ENSP00000435370:L62P;ENSP00000431822:L62P;ENSP00000436110:L27P;ENSP00000434440:L62P;ENSP00000279259:L62P;ENSP00000434680:L62P;ENSP00000433139:L62P;ENSP00000413848:L62P	ENSP00000279259:L62P	L	-	2	0	FAU	64645583	0.999000	0.42202	1.000000	0.80357	0.890000	0.51754	2.855000	0.48333	2.371000	0.80710	0.533000	0.62120	CTG		0.612	MRPL49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385293.1	NM_004927	
FOLH1B	219595	broad.mit.edu	37	11	89424164	89424164	+	RNA	SNP	C	C	T	rs371957815		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:89424164C>T	ENST00000532352.1	+	0	1627							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GGCCCAGGTTCGAGGAGGGAT	0.408																																						uc001pda.3																			0		p.V271F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						c.(814-816)Cga>Tga		Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.		C	stop/ARG	1,4399	2.1+/-5.4	0,1,2199	45.0	46.0	46.0		814	3.2	1.0	11		46	0,8554		0,0,4277	no	stop-gained	FOLH1B	NM_153696.2		0,1,6476	TT,TC,CC		0.0,0.0227,0.0077		272/443	89424164	1,12953	2200	4277	6477			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89424164C>T	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89424164C>T							p.R272*	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			10	1340	+			272						Nonsense_Mutation	SNP	ENST00000532352.1	37	c.814C>T																																																																																					0.408	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696	
MPZL2	10205	broad.mit.edu	37	11	118130818	118130818	+	Missense_Mutation	SNP	G	G	A	rs562108254	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:118130818G>A	ENST00000278937.2	-	4	663	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	MPZL2_ENST00000525647.1_5'Flank|MPZL2_ENST00000438295.2_Missense_Mutation_p.R179W	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	179					anatomical structure morphogenesis (GO:0009653)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)|T cell differentiation in thymus (GO:0033077)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CGCTTTTTCCGGTAATGCTGG	0.478													G|||	2	0.000399361	0.0	0.0029	5008	,	,		16371	0.0		0.0	False		,,,				2504	0.0					uc001psn.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11						c.(535-537)Cgg>Tgg		Homo sapiens myelin protein zero-like 2 (MPZL2), transcript variant 1, mRNA.							219.0	220.0	220.0					11																	118130818		2200	4296	6496	SO:0001583	missense	10205				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane		g.chr11:118130818G>A	AF275945	CCDS8393.1	11q24	2013-01-11	2007-08-01	2007-08-01		ENSG00000149573		"""Immunoglobulin superfamily / V-set domain containing"""	3496	protein-coding gene	gene with protein product		604873	"""epithelial V-like antigen 1"""	EVA1		9585423	Standard	NM_005797		Approved	EVA	uc001psn.3	O60487		ENST00000278937.2:c.535C>T	11.37:g.118130818G>A	ENSP00000278937:p.Arg179Trp					MPZL2_uc001pso.3_Missense_Mutation_p.R179W	p.R179W	NM_005797	NP_658911	O60487	MPZL2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	3	918	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	179					A8K2R1	Missense_Mutation	SNP	ENST00000278937.2	37	c.535C>T	CCDS8393.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637877	0.67130	.	.	ENSG00000149573	ENST00000278937;ENST00000438295	D;D	0.97553	-4.43;-4.43	5.81	4.9	0.64082	.	0.283692	0.38720	N	0.001590	D	0.91938	0.7447	L	0.27053	0.805	0.42193	D	0.991734	P	0.47910	0.902	B	0.31101	0.124	D	0.91522	0.5235	10	0.38643	T	0.18	-19.4703	15.0823	0.72125	0.068:0.0:0.932:0.0	.	179	O60487	MPZL2_HUMAN	W	179	ENSP00000278937:R179W;ENSP00000408362:R179W	ENSP00000278937:R179W	R	-	1	2	MPZL2	117636028	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.724000	0.68500	1.451000	0.47736	0.655000	0.94253	CGG		0.478	MPZL2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392113.1	NM_005797	
CHEK1	1111	broad.mit.edu	37	11	125503112	125503112	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:125503112G>A	ENST00000534070.1	+	6	734	c.479G>A	c.(478-480)cGt>cAt	p.R160H	CHEK1_ENST00000427383.2_Missense_Mutation_p.R176H|CHEK1_ENST00000438015.1_Missense_Mutation_p.R160H|CHEK1_ENST00000428830.2_Missense_Mutation_p.R160H|CHEK1_ENST00000278916.3_Missense_Mutation_p.R160H|CHEK1_ENST00000544373.1_Missense_Mutation_p.R160H|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000524737.1_Missense_Mutation_p.R160H	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	160	Interaction with CLSPN. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)	p.R160H(1)		central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TATAATAATCGTGAGCGTTTG	0.363								Other conserved DNA damage response genes																														uc009zbo.3																			1	Substitution - Missense(1)	p.R160H(2)	central_nervous_system(1)	central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26						c.(478-480)cGt>cAt	Other conserved DNA damage response genes	Homo sapiens checkpoint kinase 1 (CHEK1), transcript variant 1, mRNA.							108.0	107.0	108.0					11																	125503112		2201	4299	6500	SO:0001583	missense	1111				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr11:125503112G>A	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.479G>A	11.37:g.125503112G>A	ENSP00000435371:p.Arg160His					CHEK1_uc010sbi.2_Missense_Mutation_p.R160H|CHEK1_uc010sbh.2_Missense_Mutation_p.R176H|CHEK1_uc001qcf.4_Missense_Mutation_p.R160H|CHEK1_uc009zbp.3_Missense_Mutation_p.R160H|CHEK1_uc001qcg.4_Missense_Mutation_p.R160H	p.R160H	NM_001114122	NP_001107594	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	5	1376	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	160			Protein kinase.		A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Missense_Mutation	SNP	ENST00000534070.1	37	c.479G>A	CCDS8459.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956158	0.92726	.	.	ENSG00000149554	ENST00000438015;ENST00000427383;ENST00000428830;ENST00000544373;ENST00000527013;ENST00000526937;ENST00000534070;ENST00000524737;ENST00000532669;ENST00000278916	T;T;T;T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.73	4.82	0.62117	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.064053	0.64402	D	0.000008	T	0.61837	0.2379	L	0.36672	1.1	0.54753	D	0.999984	D;D;D;D	0.65815	0.981;0.995;0.992;0.992	P;P;P;P	0.53760	0.573;0.734;0.699;0.699	T	0.64210	-0.6461	10	0.59425	D	0.04	-9.9688	10.5261	0.44950	0.1491:0.0:0.8509:0.0	.	160;176;160;160	F5H7S4;E7EPP6;B5BTY6;O14757	.;.;.;CHK1_HUMAN	H	160;176;160;160;160;160;160;160;81;160	ENSP00000388648:R160H;ENSP00000391090:R176H;ENSP00000412504:R160H;ENSP00000442317:R160H;ENSP00000431525:R160H;ENSP00000431815:R160H;ENSP00000435371:R160H;ENSP00000432890:R160H;ENSP00000434646:R81H;ENSP00000278916:R160H	ENSP00000278916:R160H	R	+	2	0	CHEK1	125008322	1.000000	0.71417	0.986000	0.45419	0.988000	0.76386	6.485000	0.73625	1.432000	0.47375	0.585000	0.79938	CGT		0.363	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274	
TEAD4	7004	broad.mit.edu	37	12	3128315	3128315	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:3128315C>T	ENST00000397122.2	+	6	460	c.175C>T	c.(175-177)Cag>Tag	p.Q59*	TEAD4_ENST00000359864.2_Nonsense_Mutation_p.Q188*|TEAD4_ENST00000358409.2_Nonsense_Mutation_p.Q145*	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4	188					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CTATGCTGTCCAGCCTCCGCT	0.677																																						uc010sej.2																			0				endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(562-564)Cag>Tag		Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA.							91.0	74.0	80.0					12																	3128315		2203	4300	6503	SO:0001587	stop_gained	7004				hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:3128315C>T	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.175C>T	12.37:g.3128315C>T	ENSP00000380311:p.Gln59*					TEAD4_uc010sek.2_Nonsense_Mutation_p.Q145*|TEAD4_uc001qln.3_Nonsense_Mutation_p.Q59*	p.Q188*	NM_201443	NP_958851	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		7	854	+	Ovarian(42;0.211)		188					H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Nonsense_Mutation	SNP	ENST00000397122.2	37	c.562C>T	CCDS41737.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.498148|4.498148	0.85069|0.85069	.|.	.|.	ENSG00000197905|ENSG00000197905	ENST00000544666|ENST00000358409;ENST00000359864;ENST00000397122	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|0.067594	.|0.64402	.|D	.|0.000010	T|.	0.61502|.	0.2352|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.59139|.	-0.7510|.	3|.	.|0.19147	.|T	.|0.46	-22.4211|-22.4211	17.2947|17.2947	0.87167|0.87167	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	110|145;188;59	.|.	.|ENSP00000351184:Q145X	P|Q	+|+	2|1	0|0	TEAD4|TEAD4	2998576|2998576	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.820000|0.820000	0.46376|0.46376	6.968000|6.968000	0.76086|0.76086	2.313000|2.313000	0.78055|0.78055	0.561000|0.561000	0.74099|0.74099	CCA|CAG		0.677	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398477.1	NM_003213	
TAS2R30	259293	broad.mit.edu	37	12	11286159	11286159	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:11286159G>A	ENST00000539585.1	-	1	1084	c.685C>T	c.(685-687)Caa>Taa	p.Q229*	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	229					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						GTCACAGTTTGCAAAGCTTTT	0.418																																						uc009zhs.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						c.(685-687)Caa>Taa		Homo sapiens taste receptor, type 2, member 30 (TAS2R30), mRNA.							192.0	201.0	198.0					12																	11286159		2203	4300	6503	SO:0001587	stop_gained	259293							g.chr12:11286159G>A	AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19112	protein-coding gene	gene with protein product		613963	"""taste receptor, type 2, member 47"""	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.685C>T	12.37:g.11286159G>A	ENSP00000444736:p.Gln229*					PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	p.Q229*	NM_001097643	NP_001091112					0	685	-								Q645X7	Nonsense_Mutation	SNP	ENST00000539585.1	37	c.685C>T	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	34	5.359559	0.95854	.	.	ENSG00000256188	ENST00000539585	.	.	.	2.6	-1.07	0.09968	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	2.9665	0.05909	0.1571:0.0:0.3715:0.4714	.	.	.	.	X	229	.	ENSP00000444736:Q229X	Q	-	1	0	TAS2R30	11177426	0.013000	0.17824	0.006000	0.13384	0.341000	0.28922	0.434000	0.21494	-0.006000	0.14370	0.313000	0.20887	CAA		0.418	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643	
PIK3C2G	5288	broad.mit.edu	37	12	18658236	18658236	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:18658236A>G	ENST00000266497.5	+	22	3079	c.3041A>G	c.(3040-3042)aAc>aGc	p.N1014S	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.N1014S|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.N1055S			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1014	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.N1014S(1)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GCCTTGAGGAACTTTTTCTAC	0.378																																						uc001rdt.3																			1	Substitution - Missense(1)	p.N1014S(2)	central_nervous_system(1)	breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(3040-3042)aAc>aGc		Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.							121.0	102.0	108.0					12																	18658236		1920	4137	6057	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18658236A>G	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3041A>G	12.37:g.18658236A>G	ENSP00000266497:p.Asn1014Ser					PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.N1055S|PIK3C2G_uc010sic.2_Missense_Mutation_p.N833S	p.N1014S	NM_004570	NP_004561	O75747	P3C2G_HUMAN			22	3157	+		Hepatocellular(102;0.194)	1014			PI3K/PI4K.		A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.3041A>G	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.238701	0.79800	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.76316	-1.01;-1.01;-1.01	5.33	5.33	0.75918	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.114202	0.56097	D	0.000023	D	0.87736	0.6252	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.89146	0.3520	10	0.72032	D	0.01	-20.3725	14.6386	0.68706	1.0:0.0:0.0:0.0	.	1054;1055;1014	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	S	1014;1014;1055	ENSP00000404845:N1014S;ENSP00000266497:N1014S;ENSP00000445381:N1055S	ENSP00000266497:N1014S	N	+	2	0	PIK3C2G	18549503	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.139000	0.94554	2.237000	0.73441	0.528000	0.53228	AAC		0.378	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570	
PPFIBP1	8496	broad.mit.edu	37	12	27841240	27841240	+	Missense_Mutation	SNP	G	G	A	rs376329180		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:27841240G>A	ENST00000318304.8	+	25	2681	c.2398G>A	c.(2398-2400)Gcc>Acc	p.A800T	PPFIBP1_ENST00000537927.1_Missense_Mutation_p.A647T|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.A769T|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.A794T	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	800					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GAATACCATCGCCCCATCAGA	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16274	0.0		0.0	False		,,,				2504	0.0					uc001ric.2																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.(2398-2400)Gcc>Acc		Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	221.0	221.0	221.0		1939,2305,2380,2398	0.4	0.9	12		221	0,8600		0,0,4300	no	missense,missense,missense,missense	PPFIBP1	NM_001198915.1,NM_001198916.1,NM_003622.3,NM_177444.2	58,58,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	647/859,769/981,794/1006,800/1012	27841240	1,13005	2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27841240G>A	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2398G>A	12.37:g.27841240G>A	ENSP00000314724:p.Ala800Thr					PPFIBP1_uc010sjr.1_Missense_Mutation_p.A631T|PPFIBP1_uc001rib.2_Missense_Mutation_p.A794T|PPFIBP1_uc001ria.3_Missense_Mutation_p.A769T|PPFIBP1_uc001rid.2_Missense_Mutation_p.A647T|PPFIBP1_uc001rif.2_Missense_Mutation_p.A307T|TRNA_Lys_uc021qwh.1_5'Flank	p.A800T	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN			24	2775	+	Lung SC(9;0.0873)		800					O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.2398G>A	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	G	4.592	0.109921	0.08780	2.27E-4	0.0	ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.59	0.36	0.16097	Sterile alpha motif/pointed domain (2);	0.227351	0.22158	N	0.063827	T	0.08980	0.0222	N	0.00219	-1.825	0.23449	N	0.997654	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.001;0.001	B;B;B;B;B	0.09377	0.001;0.002;0.001;0.004;0.002	T	0.39542	-0.9609	10	0.07644	T	0.81	-0.6916	10.0412	0.42160	0.7779:0.0:0.2221:0.0	.	647;631;800;794;769	Q86W92-3;F5GZP6;Q86W92;Q86W92-2;Q86W92-4	.;.;LIPB1_HUMAN;.;.	T	631;647;800;769;794	ENSP00000444304:A631T;ENSP00000445425:A647T;ENSP00000314724:A800T;ENSP00000443442:A769T;ENSP00000228425:A794T	ENSP00000228425:A794T	A	+	1	0	PPFIBP1	27732507	0.994000	0.37717	0.924000	0.36721	0.126000	0.20510	1.896000	0.39789	-0.166000	0.10890	-0.812000	0.03155	GCC		0.468	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622	
SCN8A	6334	broad.mit.edu	37	12	52200784	52200784	+	Silent	SNP	C	C	T	rs372388512	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:52200784C>T	ENST00000354534.6	+	27	5692	c.5514C>T	c.(5512-5514)agC>agT	p.S1838S	SCN8A_ENST00000545061.1_Silent_p.S1797S|RP11-923I11.3_ENST00000565518.1_lincRNA	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1838					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CAATGGTGAGCGGGGATCGCA	0.562													C|||	3	0.000599042	0.0023	0.0	5008	,	,		21043	0.0		0.0	False		,,,				2504	0.0					uc001ryw.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(5512-5514)agC>agT		Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	Lamotrigine(DB00555)	C	,	12,4208		0,12,2098	84.0	87.0	86.0		5391,5514	-1.6	1.0	12		86	0,8502		0,0,4251	no	coding-synonymous,coding-synonymous	SCN8A	NM_001177984.1,NM_014191.2	,	0,12,6349	TT,TC,CC		0.0,0.2844,0.0943	,	1797/1940,1838/1981	52200784	12,12710	2110	4251	6361	SO:0001819	synonymous_variant	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52200784C>T	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5514C>T	12.37:g.52200784C>T						SCN8A_uc010snl.2_Silent_p.S1797S	p.S1838S	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	26	5692	+			1838					B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	37	c.5514C>T	CCDS44891.1																																																																																				0.562	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191	
LUM	4060	broad.mit.edu	37	12	91502375	91502375	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:91502375G>T	ENST00000266718.4	-	2	836	c.382C>A	c.(382-384)Ctg>Atg	p.L128M	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	128					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.L128M(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						GACTCTGTCAGGTTGTTGTGG	0.418																																						uc001tbm.3																			1	Substitution - Missense(1)	p.L128M(2)	central_nervous_system(1)	central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(382-384)Ctg>Atg		Homo sapiens lumican (LUM), mRNA.							101.0	104.0	103.0					12																	91502375		2203	4300	6503	SO:0001583	missense	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91502375G>T	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.382C>A	12.37:g.91502375G>T	ENSP00000266718:p.Leu128Met						p.L128M	NM_002345	NP_002336	P51884	LUM_HUMAN			1	771	-			128					B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	c.382C>A	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185760	0.57909	.	.	ENSG00000139329	ENST00000266718	T	0.70869	-0.52	5.6	2.64	0.31445	.	0.000000	0.64402	D	0.000001	D	0.84338	0.5450	M	0.89904	3.07	0.50632	D	0.999887	D	0.76494	0.999	D	0.81914	0.995	D	0.84850	0.0813	10	0.87932	D	0	-19.1088	9.4868	0.38935	0.3554:0.0:0.6446:0.0	.	128	P51884	LUM_HUMAN	M	128	ENSP00000266718:L128M	ENSP00000266718:L128M	L	-	1	2	LUM	90026506	0.999000	0.42202	0.993000	0.49108	0.995000	0.86356	1.642000	0.37207	0.669000	0.31146	0.557000	0.71058	CTG		0.418	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345	
SDS	10993	broad.mit.edu	37	12	113835119	113835119	+	Silent	SNP	G	G	A	rs185843116		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:113835119G>A	ENST00000257549.4	-	6	626	c.504C>T	c.(502-504)ggC>ggT	p.G168G		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	168					gluconeogenesis (GO:0006094)|L-serine catabolic process (GO:0006565)|pyruvate biosynthetic process (GO:0042866)|response to amino acid (GO:0043200)|response to cobalamin (GO:0033590)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.G168G(1)		large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)	GGCCCCCGCCGCCCACTGACA	0.662													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16194	0.0		0.0	False		,,,				2504	0.0					uc001tvg.3																			1	Substitution - coding silent(1)	p.G168G(2)	prostate(1)	large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11						c.(502-504)ggC>ggT		Homo sapiens serine dehydratase (SDS), mRNA.	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	G		2,4404	4.2+/-10.8	0,2,2201	58.0	58.0	58.0		504	-3.9	0.7	12		58	0,8600		0,0,4300	no	coding-synonymous	SDS	NM_006843.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		168/329	113835119	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10993				gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr12:113835119G>A	J05037	CCDS9169.1	12q24.13	2014-06-24			ENSG00000135094	ENSG00000135094	4.3.1.17		10691	protein-coding gene	gene with protein product	"""L-serine ammonia-lyase"""	182128				2674117	Standard	NM_006843		Approved	SDH	uc001tvg.3	P20132	OTTHUMG00000169554	ENST00000257549.4:c.504C>T	12.37:g.113835119G>A						SDS_uc001tvh.1_Silent_p.G168G	p.G168G	NM_006843	NP_006834	P20132	SDHL_HUMAN			5	626	-			168					A8K9P5	Silent	SNP	ENST00000257549.4	37	c.504C>T	CCDS9169.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.82	2.051384	0.36181	4.54E-4	0.0	ENSG00000135094	ENST00000552280	.	.	.	4.45	-3.87	0.04218	.	.	.	.	.	T	0.45377	0.1339	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51529	-0.8694	5	0.87932	D	0	-20.3633	0.0275	0.00004	0.2789:0.1963:0.2217:0.3032	.	.	.	.	W	78	.	ENSP00000449833:R78W	R	-	1	2	SDS	112319502	0.000000	0.05858	0.718000	0.30602	0.346000	0.29079	-3.455000	0.00465	-1.214000	0.02614	-0.258000	0.10820	CGG		0.662	SDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404790.1	NM_006843	
AMER2	219287	broad.mit.edu	37	13	25745233	25745233	+	Silent	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr13:25745233G>A	ENST00000515384.1	-	1	1192	c.525C>T	c.(523-525)aaC>aaT	p.N175N	AMER2_ENST00000381853.3_Silent_p.N175N|AMER2_ENST00000357816.2_Silent_p.N175N|AMER2-AS1_ENST00000413501.1_lincRNA			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	175					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										CTCCCTTGCCGTTTTCCGAGC	0.677																																						uc001uqb.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(523-525)aaC>aaT		Homo sapiens family with sequence similarity 123A (FAM123A), transcript variant 1, mRNA.							14.0	17.0	16.0					13																	25745233		2151	4252	6403	SO:0001819	synonymous_variant	219287							g.chr13:25745233G>A	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.525C>T	13.37:g.25745233G>A						FAM123A_uc001uqa.3_Silent_p.N175N|FAM123A_uc001uqc.3_Silent_p.N175N	p.N175N	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	0	625	-		Lung SC(185;0.0225)|Breast(139;0.0602)	175					Q5RL80|Q5VX56|Q8N593|Q96NN5	Silent	SNP	ENST00000515384.1	37	c.525C>T	CCDS53859.1																																																																																				0.677	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704	
PAN3	255967	broad.mit.edu	37	13	28840979	28840979	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr13:28840979A>T	ENST00000380958.3	+	10	1691	c.1539A>T	c.(1537-1539)aaA>aaT	p.K513N	PAN3_ENST00000282391.5_Missense_Mutation_p.K201N|PAN3_ENST00000399613.1_Missense_Mutation_p.K313N	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TAAACAGCAAAGATGATCTGC	0.373																																						uc001urz.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1537-1539)aaA>aaT		Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.							70.0	66.0	68.0					13																	28840979		2203	4300	6503	SO:0001583	missense	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28840979A>T	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1539A>T	13.37:g.28840979A>T	ENSP00000370345:p.Lys513Asn					PAN3_uc010tdo.1_Missense_Mutation_p.K513N|PAN3_uc001ury.3_Missense_Mutation_p.K201N|PAN3_uc001urx.3_Missense_Mutation_p.K313N	p.K513N	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	9	1691	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	513			Interaction with PAN2.|Protein kinase.			Missense_Mutation	SNP	ENST00000380958.3	37	c.1539A>T	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	A	20.4	3.979225	0.74360	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.05382	3.45;3.45;3.45	5.38	5.38	0.77491	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.21227	0.0511	M	0.64170	1.965	0.80722	D	1	P;D;D;D	0.89917	0.705;1.0;0.999;1.0	B;D;D;D	0.91635	0.434;0.998;0.996;0.999	T	0.02015	-1.1229	10	0.24483	T	0.36	-13.999	15.3916	0.74747	1.0:0.0:0.0:0.0	.	513;513;201;459	Q58A45-4;Q58A45;Q58A45-2;Q58A45-3	.;PAN3_HUMAN;.;.	N	513;313;201	ENSP00000370345:K513N;ENSP00000382522:K313N;ENSP00000282391:K201N	ENSP00000282391:K201N	K	+	3	2	PAN3	27738979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.638000	0.54332	2.041000	0.60428	0.528000	0.53228	AAA		0.373	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854	
STARD13	90627	broad.mit.edu	37	13	33704189	33704189	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr13:33704189G>A	ENST00000336934.5	-	5	741	c.625C>T	c.(625-627)Cgc>Tgc	p.R209C	STARD13_ENST00000255486.4_Missense_Mutation_p.R201C|STARD13_ENST00000399365.3_Missense_Mutation_p.R91C	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	209					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGCTGGCTGCGACTGTCGCTG	0.627																																						uc001uuw.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(625-627)Cgc>Tgc		Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.							33.0	34.0	34.0					13																	33704189		2203	4300	6503	SO:0001583	missense	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33704189G>A	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.625C>T	13.37:g.33704189G>A	ENSP00000338785:p.Arg209Cys					STARD13_uc001uuu.3_Missense_Mutation_p.R201C|STARD13_uc001uuv.3_Missense_Mutation_p.R91C|STARD13_uc001uux.3_Missense_Mutation_p.R174C|STARD13_uc010abh.1_Missense_Mutation_p.R194C|STARD13_uc021rhz.1_Missense_Mutation_p.R201C|STARD13_uc021ria.1_Missense_Mutation_p.R91C	p.R209C	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	4	751	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	209					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	c.625C>T	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259473	0.39995	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.07114	3.22;3.23;3.23	5.7	2.61	0.31194	.	0.140329	0.64402	D	0.000017	T	0.23766	0.0575	M	0.70595	2.14	0.80722	D	1	D;B;B;B	0.76494	0.999;0.103;0.009;0.029	P;B;B;B	0.62184	0.899;0.033;0.006;0.013	T	0.02179	-1.1200	10	0.56958	D	0.05	.	14.2324	0.65903	0.0:0.0:0.4543:0.5457	.	201;174;209;201	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	C	91;201;209;201	ENSP00000382300:R91C;ENSP00000255486:R201C;ENSP00000338785:R209C	ENSP00000255486:R201C	R	-	1	0	STARD13	32602189	0.407000	0.25352	0.412000	0.26496	0.308000	0.27856	1.108000	0.31123	0.714000	0.32081	0.655000	0.94253	CGC		0.627	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466	
LRFN5	145581	broad.mit.edu	37	14	42356674	42356674	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr14:42356674T>A	ENST00000298119.4	+	3	2035	c.846T>A	c.(844-846)ttT>ttA	p.F282L	LRFN5_ENST00000554171.1_Missense_Mutation_p.F282L|LRFN5_ENST00000554120.1_Missense_Mutation_p.F282L	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	282	LRRCT.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AAGAAGAGTTTTTGTGTGAGC	0.502										HNSCC(30;0.082)																												uc001wvm.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(844-846)ttT>ttA		Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.							138.0	132.0	134.0					14																	42356674		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356674T>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.846T>A	14.37:g.42356674T>A	ENSP00000298119:p.Phe282Leu	HNSCC(30;0.082)				LRFN5_uc010ana.3_Missense_Mutation_p.F282L	p.F282L	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	2	2044	+			282			LRRCT.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.846T>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.215911	0.58452	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.50001	0.76;0.76;0.76	5.39	4.24	0.50183	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.64402	D	0.000019	T	0.54806	0.1881	L	0.37507	1.11	0.51012	D	0.999902	D;P	0.60160	0.987;0.947	D;P	0.72075	0.976;0.829	T	0.52931	-0.8509	10	0.48119	T	0.1	.	9.5337	0.39209	0.0:0.0844:0.0:0.9156	.	282;282	G3V364;Q96NI6	.;LRFN5_HUMAN	L	282	ENSP00000298119:F282L;ENSP00000451897:F282L;ENSP00000451067:F282L	ENSP00000298119:F282L	F	+	3	2	LRFN5	41426424	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.678000	0.25277	0.975000	0.38392	0.455000	0.32223	TTT		0.502	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447	
PPP2R5E	5529	broad.mit.edu	37	14	63858710	63858710	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr14:63858710C>A	ENST00000337537.3	-	9	1485	c.883G>T	c.(883-885)Gat>Tat	p.D295Y	PPP2R5E_ENST00000422769.2_Missense_Mutation_p.D219Y|PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.D295Y	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	295					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		AGTGAAGGATCTTTCTCCAGA	0.294																																						uc001xgd.1																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15						c.(883-885)Gat>Tat		Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform (PPP2R5E), mRNA.							26.0	29.0	28.0					14																	63858710		2194	4296	6490	SO:0001583	missense	5529				signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:63858710C>A	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9313	protein-coding gene	gene with protein product		601647	"""protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"""			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.883G>T	14.37:g.63858710C>A	ENSP00000337641:p.Asp295Tyr					PPP2R5E_uc010tsf.1_Missense_Mutation_p.D219Y|PPP2R5E_uc010tsg.1_Missense_Mutation_p.D219Y|PPP2R5E_uc010tsh.1_Missense_Mutation_p.D295Y|PPP2R5E_uc001xge.2_Missense_Mutation_p.D295Y|PPP2R5E_uc001xgf.1_Non-coding_Transcript	p.D295Y	NM_006246	NP_006237	Q16537	2A5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)	8	1473	-			295					A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Missense_Mutation	SNP	ENST00000337537.3	37	c.883G>T	CCDS9758.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844156	0.91197	.	.	ENSG00000154001	ENST00000337537;ENST00000555899;ENST00000422769	.	.	.	5.59	5.59	0.84812	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87720	0.6248	H	0.94542	3.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90368	0.4378	9	0.87932	D	0	-9.1793	19.9471	0.97185	0.0:1.0:0.0:0.0	.	295;295	B7ZKK9;Q16537	.;2A5E_HUMAN	Y	295;295;219	.	ENSP00000337641:D295Y	D	-	1	0	PPP2R5E	62928463	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.716000	0.84723	2.778000	0.95560	0.655000	0.94253	GAT		0.294	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246	
PAPLN	89932	broad.mit.edu	37	14	73717702	73717702	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr14:73717702G>A	ENST00000554301.1	+	6	716	c.553G>A	c.(553-555)Gtc>Atc	p.V185I	PAPLN_ENST00000381166.3_Missense_Mutation_p.V185I|PAPLN_ENST00000427855.1_Missense_Mutation_p.V185I|PAPLN_ENST00000555445.1_Missense_Mutation_p.V185I|PAPLN_ENST00000340738.5_Missense_Mutation_p.V185I			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	185						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CTGCTACCCCGTCGCAGGCAC	0.632																																						uc010ttx.2																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(553-555)Gtc>Atc		Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.							99.0	85.0	90.0					14																	73717702		2203	4300	6503	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73717702G>A	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.553G>A	14.37:g.73717702G>A	ENSP00000451803:p.Val185Ile					PAPLN_uc001xnw.4_Missense_Mutation_p.V185I|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.V185I	p.V185I	NM_173462	NP_775733	O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	5	716	+			185					B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.553G>A		.	.	.	.	.	.	.	.	.	.	g	14.76	2.632744	0.47049	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	4.33	2.45	0.29901	ADAM-TS Spacer 1 (1);	.	.	.	.	T	0.56702	0.2003	L	0.45744	1.44	0.24069	N	0.995981	P;P;B	0.38504	0.58;0.634;0.025	B;B;B	0.37091	0.155;0.241;0.031	T	0.37957	-0.9683	9	0.27082	T	0.32	.	10.008	0.41968	0.1611:0.0:0.8389:0.0	.	185;185;185	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	I	185	ENSP00000345395:V185I;ENSP00000403403:V185I;ENSP00000370558:V185I;ENSP00000451803:V185I;ENSP00000451729:V185I	ENSP00000216658:V185I	V	+	1	0	PAPLN	72787455	1.000000	0.71417	0.078000	0.20375	0.629000	0.37895	4.146000	0.58072	0.545000	0.28902	0.550000	0.68814	GTC		0.632	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462	
CRIP1	1396	broad.mit.edu	37	14	105954816	105954816	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr14:105954816C>T	ENST00000330233.7	+	4	1145	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	CRIP1_ENST00000551180.1_Missense_Mutation_p.A36V|C14orf80_ENST00000329886.7_5'Flank|C14orf80_ENST00000392523.4_5'Flank|C14orf80_ENST00000334656.7_5'Flank|C14orf80_ENST00000392527.1_5'Flank|CRIP1_ENST00000409393.2_Missense_Mutation_p.R68W|C14orf80_ENST00000354560.6_5'Flank|CRIP1_ENST00000392531.3_Missense_Mutation_p.R68W|C14orf80_ENST00000450383.1_5'Flank|C14orf80_ENST00000392522.3_5'Flank			P50238	CRIP1_HUMAN	cysteine-rich protein 1 (intestinal)	68	Gly-rich.				cell proliferation (GO:0008283)|cellular response to antibiotic (GO:0071236)|cellular response to UV-B (GO:0071493)|heart development (GO:0007507)|immune response (GO:0006955)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|prostate gland stromal morphogenesis (GO:0060741)|regulation of gene expression (GO:0010468)|response to organic substance (GO:0010033)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)	AT DNA binding (GO:0003680)|DNA binding, bending (GO:0008301)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)						Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		AGGCTTTGGGCGGGGCGGAGC	0.632																																						uc001yri.4																			0											c.(202-204)Cgg>Tgg		Homo sapiens cysteine-rich protein 1 (intestinal) (CRIP1), mRNA.							49.0	52.0	51.0					14																	105954816		2202	4298	6500	SO:0001583	missense	1396				cell proliferation	cytoplasm	zinc ion binding	g.chr14:105954816C>T		CCDS10004.1	14q32.33	2004-06-18			ENSG00000213145	ENSG00000213145			2360	protein-coding gene	gene with protein product		123875				9480758	Standard	NM_001311		Approved	CRIP	uc001yri.4	P50238	OTTHUMG00000029908	ENST00000330233.7:c.202C>T	14.37:g.105954816C>T	ENSP00000332449:p.Arg68Trp					C14orf80_uc001yrj.3_5'Flank|C14orf80_uc001yrk.3_5'Flank|C14orf80_uc001yrn.3_5'Flank|C14orf80_uc001yro.3_5'Flank|C14orf80_uc001yrm.3_5'Flank	p.R68W	NM_001311	NP_001302	P50238	CRIP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)	4	316	+		Melanoma(154;0.226)	68			Gly-rich.		H3BPI2|Q13628|Q53XY7|Q96J34	Missense_Mutation	SNP	ENST00000330233.7	37	c.202C>T	CCDS10004.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395771	0.62177	.	.	ENSG00000213145	ENST00000330233;ENST00000409393;ENST00000392531	D;D;D	0.92446	-3.04;-3.04;-3.04	4.76	2.69	0.31865	Zinc finger, LIM-type (1);	0.119697	0.31531	N	0.007496	D	0.89757	0.6807	.	.	.	0.40782	D	0.98318	D	0.64830	0.994	P	0.46452	0.517	D	0.88082	0.2807	9	0.51188	T	0.08	-10.0018	8.207	0.31461	0.1666:0.7382:0.0:0.0952	.	68	P50238	CRIP1_HUMAN	W	68	ENSP00000332449:R68W;ENSP00000386340:R68W;ENSP00000376315:R68W	ENSP00000447493:R68W	R	+	1	2	CRIP1	105025861	0.973000	0.33851	0.993000	0.49108	0.971000	0.66376	0.990000	0.29642	1.000000	0.39049	-0.142000	0.14014	CGG		0.632	CRIP1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335466.2	NM_001311	
HDC	3067	broad.mit.edu	37	15	50549631	50549631	+	Silent	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr15:50549631G>A	ENST00000267845.3	-	4	834	c.432C>T	c.(430-432)ggC>ggT	p.G144G	HDC_ENST00000543581.1_Silent_p.G144G	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		CCTGCAGGACGCCTCCGCCCT	0.562																																					GBM(95;1627 1936 6910 9570)	uc001zxz.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(430-432)ggC>ggT		Homo sapiens histidine decarboxylase (HDC), mRNA.	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						113.0	98.0	103.0					15																	50549631		2196	4295	6491	SO:0001819	synonymous_variant	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50549631G>A		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.432C>T	15.37:g.50549631G>A						HDC_uc010uff.2_Silent_p.G144G|HDC_uc010bet.2_Intron|HDC_uc010beu.2_Silent_p.G144G	p.G144G	NM_002112	NP_002103	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	3	774	-		all_lung(180;0.0138)	144						Silent	SNP	ENST00000267845.3	37	c.432C>T	CCDS10134.1																																																																																				0.562	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1		
ADCY9	115	broad.mit.edu	37	16	4033425	4033425	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr16:4033425G>A	ENST00000294016.3	-	7	2865	c.2327C>T	c.(2326-2328)cCc>cTc	p.P776L		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	776					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGTCTTCACGGGGGAGTTCTT	0.562																																						uc002cvx.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2326-2328)cCc>cTc		Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.							74.0	62.0	66.0					16																	4033425		2196	4299	6495	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4033425G>A	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2327C>T	16.37:g.4033425G>A	ENSP00000294016:p.Pro776Leu						p.P776L	NM_001116	NP_001107	O60503	ADCY9_HUMAN			6	2866	-			776					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.2327C>T	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699836	0.68501	.	.	ENSG00000162104	ENST00000294016	D	0.83591	-1.74	5.94	5.94	0.96194	.	0.109645	0.64402	D	0.000006	D	0.84781	0.5548	L	0.56769	1.78	0.80722	D	1	D	0.59767	0.986	P	0.51582	0.674	T	0.79764	-0.1666	10	0.07813	T	0.8	.	20.3632	0.98871	0.0:0.0:1.0:0.0	.	776	O60503	ADCY9_HUMAN	L	776	ENSP00000294016:P776L	ENSP00000294016:P776L	P	-	2	0	ADCY9	3973426	1.000000	0.71417	0.309000	0.25155	0.151000	0.21798	9.350000	0.97070	2.826000	0.97356	0.561000	0.74099	CCC		0.562	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1		
MYH11	4629	broad.mit.edu	37	16	15844112	15844112	+	Silent	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr16:15844112C>T	ENST00000300036.5	-	16	2050	c.1941G>A	c.(1939-1941)aaG>aaA	p.K647K	MYH11_ENST00000452625.2_Silent_p.K654K|MYH11_ENST00000396324.3_Silent_p.K654K|MYH11_ENST00000576790.2_Silent_p.K647K	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	647	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGAACATGCCCTTCTTGGTCT	0.627			T	CBFB	AML																																	uc002ddx.3				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(1960-1962)aaG>aaA		Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.							134.0	99.0	111.0					16																	15844112		2197	4300	6497	SO:0001819	synonymous_variant	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15844112C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1941G>A	16.37:g.15844112C>T						MYH11_uc002ddv.3_Silent_p.K654K|MYH11_uc002ddw.3_Silent_p.K647K|MYH11_uc002ddy.3_Silent_p.K647K|MYH11_uc010bvg.3_Silent_p.K479K|MYH11_uc002dea.1_Silent_p.K353K	p.K654K	NM_001040114	NP_001035203	P35749	MYH11_HUMAN			16	2069	-			647			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	c.1962G>A	CCDS10565.1																																																																																				0.627	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
CD2BP2	10421	broad.mit.edu	37	16	30364599	30364599	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr16:30364599G>A	ENST00000305596.3	-	6	993	c.818C>T	c.(817-819)tCg>tTg	p.S273L	CD2BP2_ENST00000569466.1_Missense_Mutation_p.S273L|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	273					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						ATCTCCCCGCGACTCTGCTTC	0.572																																						uc002dxr.3																			0		p.S273S(1)		breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						c.(817-819)tCg>tTg		Homo sapiens CD2 (cytoplasmic tail) binding protein 2 (CD2BP2), transcript variant 2, mRNA.							115.0	106.0	109.0					16																	30364599		2197	4300	6497	SO:0001583	missense	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30364599G>A	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.818C>T	16.37:g.30364599G>A	ENSP00000304903:p.Ser273Leu					CD2BP2_uc002dxs.3_Missense_Mutation_p.S273L	p.S273L	NM_001243646	NP_001230575	O95400	CD2B2_HUMAN			4	1071	-			273					B2RDX2|Q9ULP2	Missense_Mutation	SNP	ENST00000305596.3	37	c.818C>T	CCDS10675.1	.	.	.	.	.	.	.	.	.	.	g	5.025	0.190274	0.09547	.	.	ENSG00000169217	ENST00000305596	T	0.33654	1.4	4.81	3.82	0.43975	.	0.619015	0.16973	N	0.192002	T	0.27454	0.0674	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14420	-1.0473	10	0.31617	T	0.26	-0.2598	11.533	0.50620	0.0937:0.0:0.9063:0.0	.	273	O95400	CD2B2_HUMAN	L	273	ENSP00000304903:S273L	ENSP00000304903:S273L	S	-	2	0	CD2BP2	30272100	0.850000	0.29656	0.200000	0.23457	0.127000	0.20565	3.836000	0.55813	1.076000	0.40961	0.655000	0.94253	TCG		0.572	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110	
HYDIN	54768	broad.mit.edu	37	16	70867931	70867931	+	Missense_Mutation	SNP	C	C	T	rs201554059	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr16:70867931C>T	ENST00000393567.2	-	79	13688	c.13538G>A	c.(13537-13539)cGc>cAc	p.R4513H		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4513					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.R4464H(1)|p.R4512H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAAGAGGGGGCGCAGGAGCCC	0.557													C|||	4	0.000798722	0.0008	0.0	5008	,	,		15702	0.001		0.002	False		,,,				2504	0.0					uc002ezr.3																			2	Substitution - Missense(2)	p.R4464H(1)|p.R4512H(1)	lung(2)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(13534-13536)cGc>cAc		Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.		C	HIS/ARG	0,3238		0,0,1619	7.0	7.0	7.0		13535	3.9	1.0	16		7	13,7347		0,13,3667	no	missense	HYDIN	NM_032821.2	29	0,13,5286	TT,TC,CC		0.1766,0.0,0.1227	probably-damaging	4512/5121	70867931	13,10585	1619	3680	5299	SO:0001583	missense	54768							g.chr16:70867931C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.13538G>A	16.37:g.70867931C>T	ENSP00000377197:p.Arg4513His					HYDIN_uc010cfy.3_Non-coding_Transcript	p.R4512H	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			78	13686	-		Ovarian(137;0.0654)	4513					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.13535G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106393	0.77096	0.0	0.001766	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00976	5.48	4.87	3.92	0.45320	.	0.000000	0.33631	U	0.004713	T	0.04452	0.0122	M	0.77103	2.36	0.80722	D	1	D	0.71674	0.998	D	0.64042	0.921	T	0.32640	-0.9899	10	0.52906	T	0.07	.	12.6292	0.56646	0.0:0.9187:0.0:0.0813	.	4512	F8WD23	.	H	4513;4512	ENSP00000377197:R4513H	ENSP00000313052:R4512H	R	-	2	0	HYDIN	69425432	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.555000	0.36277	1.050000	0.40346	0.511000	0.50034	CGC		0.557	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	71026070	71026070	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr16:71026070G>T	ENST00000393567.2	-	24	3838	c.3688C>A	c.(3688-3690)Cag>Aag	p.Q1230K	HYDIN_ENST00000448089.2_Missense_Mutation_p.Q1182K	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1230					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GACTCCATCTGGGACACTGGG	0.498																																						uc002ezr.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(3688-3690)Cag>Aag		Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.							91.0	89.0	90.0					16																	71026070		1917	4124	6041	SO:0001583	missense	54768							g.chr16:71026070G>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3688C>A	16.37:g.71026070G>T	ENSP00000377197:p.Gln1230Lys						p.Q1230K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			23	3839	-		Ovarian(137;0.0654)	1230					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.3688C>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986271	0.35036	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089	T;T	0.05025	5.57;3.51	4.55	4.55	0.56014	.	0.309706	0.17574	U	0.169342	T	0.07458	0.0188	L	0.44542	1.39	0.80722	D	1	P	0.40731	0.728	B	0.43445	0.42	T	0.12528	-1.0544	10	0.06236	T	0.91	.	12.9712	0.58513	0.0:0.0:1.0:0.0	.	1230	F8WD23	.	K	1230;1230;1182	ENSP00000377197:Q1230K;ENSP00000398544:Q1182K	ENSP00000313052:Q1230K	Q	-	1	0	HYDIN	69583571	1.000000	0.71417	0.842000	0.33263	0.295000	0.27426	2.984000	0.49353	2.521000	0.84997	0.511000	0.50034	CAG		0.498	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
YWHAE	7531	broad.mit.edu	37	17	1257637	1257637	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:1257637C>T	ENST00000264335.8	-	5	850	c.583G>A	c.(583-585)Gca>Aca	p.A195T	YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000571732.1_Missense_Mutation_p.A173T	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	195					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)	p.A195T(2)		kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		GCTGCTTTTGCCAACCTAAAG	0.348			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																															uc002fsj.3				Dom	yes		17	17p13.3	7531	T	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"""	yes	Miller-Dieker lissencephaly syndrome	M	"""FAM22a, FAM22B"""		edometrial stromal sarcoma		2	Substitution - Missense(2)	p.A195T(3)	kidney(2)	kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14						c.(583-585)Gca>Aca		Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (YWHAE), transcript variant 1, mRNA.							80.0	65.0	70.0					17																	1257637		2203	4300	6503	SO:0001583	missense	7531				apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding	g.chr17:1257637C>T	U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"""14-3-3 epsilon"""	605066	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"""			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.583G>A	17.37:g.1257637C>T	ENSP00000264335:p.Ala195Thr					YWHAE_uc002fsk.3_Missense_Mutation_p.A173T|YWHAE_uc010vqh.2_Non-coding_Transcript|YWHAE_uc010vqi.2_Non-coding_Transcript	p.A195T	NM_006761	NP_006752	P62258	1433E_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)	4	735	-			195					B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Missense_Mutation	SNP	ENST00000264335.8	37	c.583G>A	CCDS11001.1	.	.	.	.	.	.	.	.	.	.	C	32	5.186463	0.94885	.	.	ENSG00000108953	ENST00000264335;ENST00000414131	T	0.53857	0.6	5.51	5.51	0.81932	14-3-3 domain (4);	0.129531	0.50627	U	0.000108	T	0.80507	0.4636	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.85916	0.1443	10	0.87932	D	0	-13.3814	16.9304	0.86189	0.0:1.0:0.0:0.0	.	195	P62258	1433E_HUMAN	T	195;173	ENSP00000264335:A195T	ENSP00000264335:A195T	A	-	1	0	YWHAE	1204387	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.662000	0.83803	2.580000	0.87095	0.650000	0.86243	GCA		0.348	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	NM_006761	
SLFN12L	100506736	broad.mit.edu	37	17	33806205	33806205	+	Missense_Mutation	SNP	C	C	T	rs369872858		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:33806205C>T	ENST00000260908.7	-	2	1141	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M	SLFN12L_ENST00000361112.4_Missense_Mutation_p.V371M|SLFN12L_ENST00000449046.1_Missense_Mutation_p.V373M|RP11-686D22.9_ENST00000587076.1_RNA	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	342						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TTATCTTTCACGTGCCAGGAA	0.448																																						uc002hjn.3																			0				breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						c.(1111-1113)Gtg>Atg		Homo sapiens schlafen family member 12-like (SLFN12L), mRNA.							109.0	80.0	89.0					17																	33806205		692	1591	2283	SO:0001583	missense	342615					integral to membrane	ATP binding	g.chr17:33806205C>T	AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.1024G>A	17.37:g.33806205C>T	ENSP00000437635:p.Val342Met					SLFN12L_uc021tuy.1_Missense_Mutation_p.V342M	p.V371M	NM_001195790	NP_001182719	Q6IEE8	SN12L_HUMAN			2	1825	-			374					F5H6G3	Missense_Mutation	SNP	ENST00000260908.7	37	c.1111G>A	CCDS56026.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.509101	0.27036	.	.	ENSG00000205045	ENST00000260908;ENST00000361112;ENST00000449046	T;T;T	0.63255	-0.03;-0.03;-0.03	2.81	-0.639	0.11497	.	.	.	.	.	T	0.46833	0.1413	L	0.39514	1.22	0.09310	N	1	P	0.44090	0.826	B	0.40864	0.342	T	0.32903	-0.9889	9	0.30078	T	0.28	.	5.2225	0.15375	0.0:0.5334:0.0:0.4665	.	371	Q6IEE8-2	.	M	342;371;373	ENSP00000437635:V342M;ENSP00000354412:V371M;ENSP00000389348:V373M	ENSP00000437635:V342M	V	-	1	0	SLFN12L	30830318	0.003000	0.15002	0.000000	0.03702	0.194000	0.23727	0.018000	0.13422	0.040000	0.15660	0.411000	0.27672	GTG		0.448	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395748.2	XM_496206	
KRT13	3860	broad.mit.edu	37	17	39659272	39659272	+	Missense_Mutation	SNP	G	G	A	rs202015813		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:39659272G>A	ENST00000246635.3	-	4	860	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000336861.3_Missense_Mutation_p.R272C|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000587544.1_Missense_Mutation_p.R272C	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	272	Linker 12.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R272S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GCCAGCACGCGGGTCAGGTCA	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		20628	0.0		0.001	False		,,,				2504	0.0					uc002hwu.1																			1	Substitution - Missense(1)	p.R272S(2)|p.R272R(1)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(814-816)Cgc>Tgc		Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.							222.0	210.0	214.0					17																	39659272		2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39659272G>A		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.814C>T	17.37:g.39659272G>A	ENSP00000246635:p.Arg272Cys					KRT13_uc002hwv.1_Missense_Mutation_p.R272C|KRT13_uc010wfr.2_Missense_Mutation_p.R165C|KRT13_uc010cxo.3_Missense_Mutation_p.R272C|KRT13_uc021txk.1_Missense_Mutation_p.R165C	p.R272C	NM_153490	NP_705694	P13646	K1C13_HUMAN			3	877	-		Breast(137;0.000286)	272			Linker 12.|Rod.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.814C>T	CCDS11396.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.15	3.559685	0.65538	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	T;T	0.78595	-1.19;-1.19	4.32	4.32	0.51571	Filament (1);	0.000000	0.47852	D	0.000209	T	0.77260	0.4104	L	0.56124	1.755	0.50813	D	0.999892	B;P;B;P	0.38280	0.397;0.625;0.397;0.625	B;P;B;P	0.45377	0.119;0.478;0.119;0.478	T	0.79633	-0.1722	10	0.87932	D	0	.	10.5407	0.45031	0.0:0.0:0.666:0.334	.	260;272;272;272	P13646-2;A1A4E9;P13646-3;P13646	.;.;.;K1C13_HUMAN	C	272;272;260	ENSP00000246635:R272C;ENSP00000336604:R272C	ENSP00000157775:R260C	R	-	1	0	KRT13	36912798	0.087000	0.21565	0.998000	0.56505	0.884000	0.51177	1.928000	0.40104	2.401000	0.81631	0.561000	0.74099	CGC		0.602	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490	
DHX58	79132	broad.mit.edu	37	17	40259776	40259776	+	Silent	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:40259776C>T	ENST00000251642.3	-	8	1065	c.843G>A	c.(841-843)gcG>gcA	p.A281A		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	281					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCAGGTGAAGCGCATACACCC	0.657																																						uc002hyw.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(841-843)gcG>gcA		Homo sapiens DEXH (Asp-Glu-X-His) box polypeptide 58 (DHX58), mRNA.							38.0	35.0	36.0					17																	40259776		2203	4296	6499	SO:0001819	synonymous_variant	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40259776C>T	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.843G>A	17.37:g.40259776C>T						DHX58_uc002hyv.3_Non-coding_Transcript|DHX58_uc010wgf.1_Silent_p.A274A	p.A281A	NM_024119	NP_077024	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	7	1066	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	281					Q9HAM6	Silent	SNP	ENST00000251642.3	37	c.843G>A	CCDS11416.1																																																																																				0.657	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119	
B4GALNT2	124872	broad.mit.edu	37	17	47246247	47246247	+	Nonsense_Mutation	SNP	C	C	T	rs112740954	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:47246247C>T	ENST00000300404.2	+	10	1539	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	B4GALNT2_ENST00000504681.1_Nonsense_Mutation_p.R408*|B4GALNT2_ENST00000393354.2_Nonsense_Mutation_p.R434*	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	494					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CCGCCTGCAACGAGTGGCTCA	0.592													C|||	23	0.00459265	0.0166	0.0014	5008	,	,		18942	0.0		0.0	False		,,,				2504	0.0				GBM(124;244 1635 8663 18097 33175)	uc002ion.2																			0				endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1480-1482)Cga>Tga		Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.		C	stop/ARG,stop/ARG,stop/ARG	60,4346	58.7+/-95.3	1,58,2144	38.0	32.0	34.0		1300,1222,1480	1.6	0.7	17	dbSNP_132	34	8,8592	6.4+/-24.3	0,8,4292	yes	stop-gained,stop-gained,stop-gained	B4GALNT2	NM_001159387.1,NM_001159388.1,NM_153446.2	,,	1,66,6436	TT,TC,CC		0.093,1.3618,0.5228	,,	434/507,408/481,494/567	47246247	68,12938	2203	4300	6503	SO:0001587	stop_gained	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47246247C>T	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1480C>T	17.37:g.47246247C>T	ENSP00000300404:p.Arg494*					B4GALNT2_uc010wlt.1_Nonsense_Mutation_p.R408*|B4GALNT2_uc010wlu.1_Nonsense_Mutation_p.R434*	p.R494*	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		9	1539	+			494					B4DZE4|Q14CP1|Q86Y40	Nonsense_Mutation	SNP	ENST00000300404.2	37	c.1480C>T	CCDS11544.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	35	5.489140	0.96323	0.013618	9.3E-4	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	.	.	.	5.28	1.6	0.23607	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5352	13.0158	0.58757	0.5491:0.4509:0.0:0.0	.	.	.	.	X	408;434;494	.	ENSP00000300404:R494X	R	+	1	2	B4GALNT2	44601246	0.000000	0.05858	0.652000	0.29579	0.996000	0.88848	-0.601000	0.05687	0.530000	0.28619	0.561000	0.74099	CGA		0.592	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446	
FASN	2194	broad.mit.edu	37	17	80045208	80045208	+	Silent	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:80045208C>T	ENST00000306749.2	-	20	3434	c.3216G>A	c.(3214-3216)aaG>aaA	p.K1072K		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1072					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	TACCTTGGGCCTTGTCCTGCA	0.672																																					Colon(59;314 1043 11189 28578 32273)	uc002kdu.3																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(3214-3216)aaG>aaA		Homo sapiens fatty acid synthase (FASN), mRNA.	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						92.0	68.0	76.0					17																	80045208		2198	4296	6494	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80045208C>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.3216G>A	17.37:g.80045208C>T						FASN_uc002kdw.1_Silent_p.K288K	p.K1072K	NM_004104	NP_004095	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		19	3333	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1072					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.3216G>A	CCDS11801.1																																																																																				0.672	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104	
ZNF521	25925	broad.mit.edu	37	18	22902139	22902139	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr18:22902139T>C	ENST00000361524.3	-	3	201	c.53A>G	c.(52-54)aAa>aGa	p.K18R	ZNF521_ENST00000538137.2_Missense_Mutation_p.K18R|ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000579111.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	18					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GTCTTCAAGTTTACAGTTGGG	0.423			T	PAX5	ALL																																	uc002kvk.2				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(52-54)aAa>aGa		Homo sapiens zinc finger protein 521 (ZNF521), mRNA.							113.0	113.0	113.0					18																	22902139		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22902139T>C	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.53A>G	18.37:g.22902139T>C	ENSP00000354794:p.Lys18Arg					ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.K18R|ZNF521_uc002kvl.2_5'UTR	p.K18R	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			2	300	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		18					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.53A>G	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.386061	0.42308	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.08720	3.06;3.08	5.91	5.91	0.95273	.	0.146153	0.48286	D	0.000186	T	0.04998	0.0134	N	0.08118	0	0.26072	N	0.981205	B	0.30482	0.281	B	0.21360	0.034	T	0.37197	-0.9716	10	0.36615	T	0.2	-9.0136	14.9089	0.70740	0.0:0.0:0.0:1.0	.	18	Q96K83	ZN521_HUMAN	R	18;52;18	ENSP00000354794:K18R;ENSP00000382352:K18R	ENSP00000354794:K18R	K	-	2	0	ZNF521	21156137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.524000	0.60552	2.255000	0.74692	0.533000	0.62120	AAA		0.423	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461	
SS18	6760	broad.mit.edu	37	18	23618584	23618584	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr18:23618584C>T	ENST00000415083.2	-	7	870	c.815G>A	c.(814-816)gGg>gAg	p.G272E	SS18_ENST00000269137.7_Missense_Mutation_p.G272E|SS18_ENST00000539849.1_Missense_Mutation_p.G190E|SS18_ENST00000545952.1_Missense_Mutation_p.G220E|SS18_ENST00000585241.1_5'Flank|SS18_ENST00000542420.2_Missense_Mutation_p.G249E|SS18_ENST00000542743.1_Missense_Mutation_p.G220E	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	272	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GTATTGGTCCCCGTAATAGTC	0.438			T	"""SSX1,  SSX2"""	synovial sarcoma																																	uc002kvm.3				Dom	yes		18	18q11.2	6760	T	"""synovial sarcoma translocation, chromosome 18"""			M	"""SSX1,  SSX2"""		synovial sarcoma	SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	0		p.G272W(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19						c.(814-816)gGg>gAg		Homo sapiens synovial sarcoma translocation, chromosome 18 (SS18), transcript variant 1, mRNA.							180.0	171.0	174.0					18																	23618584		2203	4300	6503	SO:0001583	missense	6760				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr18:23618584C>T	X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.815G>A	18.37:g.23618584C>T	ENSP00000414516:p.Gly272Glu					SS18_uc002kvn.3_Missense_Mutation_p.G272E|SS18_uc010xbf.2_Missense_Mutation_p.G190E|SS18_uc010xbg.2_Missense_Mutation_p.G220E|SS18_uc010xbh.2_Missense_Mutation_p.G220E|SS18_uc010xbi.2_Missense_Mutation_p.G249E|SS18_uc010dlz.1_Missense_Mutation_p.G220E	p.G272E	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN			6	893	-	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)		272			Gln-rich.		B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	ENST00000415083.2	37	c.815G>A	CCDS32807.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762996	0.49574	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000269137;ENST00000542420;ENST00000542743;ENST00000539849;ENST00000545952	T;T;T;T;T	0.41065	1.08;1.12;1.01;1.06;1.01	5.66	4.79	0.61399	.	0.143577	0.64402	N	0.000005	T	0.59142	0.2172	L	0.55481	1.735	0.58432	D	0.999992	B;B;D	0.76494	0.005;0.003;0.999	B;B;D	0.71656	0.003;0.003;0.974	T	0.62699	-0.6799	10	0.66056	D	0.02	-2.5388	15.1022	0.72288	0.0:0.9317:0.0:0.0683	.	220;272;272	B4E2J6;Q4VAX0;Q15532	.;.;SSXT_HUMAN	E	275;272;272;249;220;190;220	ENSP00000269137:G272E;ENSP00000438066:G249E;ENSP00000444551:G220E;ENSP00000444647:G190E;ENSP00000443097:G220E	ENSP00000269137:G272E	G	-	2	0	SS18	21872582	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	4.578000	0.60929	1.530000	0.49136	-0.150000	0.13652	GGG		0.438	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1		
TJP3	27134	broad.mit.edu	37	19	3746600	3746600	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:3746600C>T	ENST00000541714.2	+	17	2590	c.2128C>T	c.(2128-2130)Cgc>Tgc	p.R710C	TJP3_ENST00000382008.3_Missense_Mutation_p.R724C|TJP3_ENST00000589378.1_Missense_Mutation_p.R719C|TJP3_ENST00000587686.1_Missense_Mutation_p.R729C|TJP3_ENST00000262968.9_Missense_Mutation_p.R743C|TJP3_ENST00000539908.2_Missense_Mutation_p.R674C	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	710	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGGCACTGCGCCAGTGGCT	0.647																																						uc010xhv.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(2227-2229)Cgc>Tgc		Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.							22.0	27.0	25.0					19																	3746600		2202	4300	6502	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3746600C>T	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.2128C>T	19.37:g.3746600C>T	ENSP00000439278:p.Arg710Cys					TJP3_uc010xhs.2_Missense_Mutation_p.R710C|TJP3_uc010xht.2_Missense_Mutation_p.R674C|TJP3_uc010xhu.2_Missense_Mutation_p.R719C|TJP3_uc010xhw.2_Missense_Mutation_p.R729C	p.R743C	NM_014428	NP_055243	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	15	2227	+			724			Guanylate kinase-like.		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.2227C>T	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346019	0.61073	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	4.8	4.8	0.61643	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.43787	0.1263	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.996	T	0.46843	-0.9162	10	0.87932	D	0	.	12.0052	0.53255	0.1729:0.8271:0.0:0.0	.	729;743;724;710	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	C	710;674;724;743	ENSP00000439278:R710C;ENSP00000439991:R674C;ENSP00000371438:R724C;ENSP00000262968:R743C	ENSP00000262968:R743C	R	+	1	0	TJP3	3697600	1.000000	0.71417	0.993000	0.49108	0.675000	0.39556	2.998000	0.49465	2.196000	0.70406	0.491000	0.48974	CGC		0.647	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1		
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:11022906C>T	ENST00000327064.4	+	5	795	c.605C>T	c.(604-606)gCc>gTc	p.A202V	CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	202	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.A202V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCGTTTTTTGCCGCCCAAGCT	0.622																																						uc002mpz.3																			2	Substitution - Missense(2)	p.A202V(4)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(604-606)gCc>gTc		Homo sapiens coactivator-associated arginine methyltransferase 1 (CARM1), mRNA.							319.0	260.0	280.0					19																	11022906		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11022906C>T	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.605C>T	19.37:g.11022906C>T	ENSP00000325690:p.Ala202Val					CARM1_uc010dxn.3_Non-coding_Transcript|CARM1_uc002mqa.3_5'UTR	p.A202V	NM_199141	NP_954592	Q86X55	CARM1_HUMAN			4	731	+			202					A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.605C>T	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061915	0.93846	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.28666	1.6;1.6	5.67	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	H	0.96142	3.775	0.80722	D	1	D	0.57571	0.98	P	0.53809	0.735	T	0.76482	-0.2943	10	0.87932	D	0	-2.6238	14.9481	0.71047	0.1444:0.8556:0.0:0.0	.	202	Q86X55	CARM1_HUMAN	V	202	ENSP00000325690:A202V;ENSP00000340934:A202V	ENSP00000325690:A202V	A	+	2	0	CARM1	10883906	1.000000	0.71417	0.005000	0.12908	0.991000	0.79684	7.335000	0.79234	1.386000	0.46466	0.655000	0.94253	GCC		0.622	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719	
CPAMD8	27151	broad.mit.edu	37	19	17007075	17007075	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:17007075C>T	ENST00000443236.1	-	41	5510	c.5479G>A	c.(5479-5481)Ggg>Agg	p.G1827R	CPAMD8_ENST00000597335.1_5'UTR	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1780						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGTAAAGGCCCCGGGGCCACA	0.677																																						uc002nfb.3																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(5479-5481)Ggg>Agg		Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.							40.0	42.0	42.0					19																	17007075		1936	4138	6074	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17007075C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.5479G>A	19.37:g.17007075C>T	ENSP00000402505:p.Gly1827Arg					CPAMD8_uc010xpj.1_5'UTR|CPAMD8_uc002nfd.1_Missense_Mutation_p.G292R	p.G1827R	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			40	5511	-			1780					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.5479G>A	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.033023	0.35893	.	.	ENSG00000160111	ENST00000291440	.	.	.	2.23	2.23	0.28157	.	0.103668	0.38217	U	0.001764	T	0.22166	0.0534	N	0.08118	0	0.22305	N	0.999211	D	0.58620	0.983	P	0.56343	0.796	T	0.11665	-1.0578	9	0.17369	T	0.5	.	8.5388	0.33379	0.0:1.0:0.0:0.0	.	1780	Q8IZJ3	CPMD8_HUMAN	R	1827	.	ENSP00000291440:G1827R	G	-	1	0	CPAMD8	16868075	0.001000	0.12720	0.006000	0.13384	0.006000	0.05464	0.543000	0.23237	1.226000	0.43582	0.435000	0.28638	GGG		0.677	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	
CPAMD8	27151	broad.mit.edu	37	19	17025572	17025572	+	Silent	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:17025572G>A	ENST00000443236.1	-	28	3853	c.3822C>T	c.(3820-3822)ttC>ttT	p.F1274F		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1227						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGGGGTCCACGAAGATAAAGC	0.617																																						uc002nfb.3																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(3820-3822)ttC>ttT		Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.							33.0	38.0	37.0					19																	17025572		2001	4171	6172	SO:0001819	synonymous_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17025572G>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3822C>T	19.37:g.17025572G>A							p.F1274F	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			27	3854	-			1227					Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	c.3822C>T	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	1.299	-0.605474	0.03717	.	.	ENSG00000160111	ENST00000443236	T	0.37411	1.2	3.04	0.803	0.18691	.	.	.	.	.	T	0.34424	0.0897	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.05869	-1.0859	5	.	.	.	.	6.7001	0.23221	0.3125:0.0:0.6875:0.0	.	.	.	.	L	1285	ENSP00000402505:S1285L	.	S	-	2	0	CPAMD8	16886572	1.000000	0.71417	0.457000	0.27056	0.216000	0.24613	2.175000	0.42491	-0.077000	0.12752	-0.263000	0.10527	TCG		0.617	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	
PSG4	5672	broad.mit.edu	37	19	43702421	43702421	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:43702421G>C	ENST00000405312.3	-	3	674	c.437C>G	c.(436-438)aCt>aGt	p.T146S	PSG4_ENST00000244295.9_Missense_Mutation_p.T146S|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	146					female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGGCTTGGGAGTCTCCACTGT	0.517																																						uc002ovy.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(436-438)aCt>aGt		Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.							108.0	126.0	120.0					19																	43702421		2127	4271	6398	SO:0001583	missense	5672				defense response|female pregnancy	extracellular region		g.chr19:43702421G>C		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.437C>G	19.37:g.43702421G>C	ENSP00000384770:p.Thr146Ser					PSG4_uc010xwk.1_5'UTR|PSG4_uc002ovz.3_Missense_Mutation_p.T146S|PSG4_uc002owb.3_Intron	p.T146S	NM_002780	NP_002771	Q00888	PSG4_HUMAN			2	539	-		Prostate(69;0.00682)	146					E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.437C>G	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	g	3.797	-0.042562	0.07452	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000451895	T;T;T	0.10960	2.82;2.82;2.82	2.11	-0.295	0.12828	.	.	.	.	.	T	0.17152	0.0412	M	0.80028	2.48	0.09310	N	1	B;B	0.22746	0.074;0.011	B;B	0.35039	0.194;0.049	T	0.38520	-0.9657	9	0.72032	D	0.01	.	5.4721	0.16676	0.8073:0.0:0.1927:0.0	.	146;146	Q00888-2;Q00888	.;PSG4_HUMAN	S	146;146;162	ENSP00000244295:T146S;ENSP00000384770:T146S;ENSP00000388134:T162S	ENSP00000244295:T146S	T	-	2	0	PSG4	48394261	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.720000	0.25896	-0.301000	0.08882	-1.545000	0.00906	ACT		0.517	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633	
ZNF234	10780	broad.mit.edu	37	19	44661986	44661986	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:44661986delG	ENST00000426739.2	+	6	2075	c.1817delG	c.(1816-1818)agtfs	p.S606fs	ZNF234_ENST00000592437.1_Frame_Shift_Del_p.S606fs	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	606					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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AAGCACTTCAGTCAGGCCTCA	0.468																																						uc002oym.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(1816-1818)agtfs		Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.							134.0	142.0	139.0					19																	44661986		2196	4296	6492	SO:0001589	frameshift_variant	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44661986delG	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1817delG	19.37:g.44661986delG	ENSP00000400878:p.Ser606fs					ZNF234_uc002oyl.4_Frame_Shift_Del_p.S606fs	p.S606fs	NM_006630	NP_006621	Q14588	ZN234_HUMAN			5	2124	+		Prostate(69;0.0435)	606					A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Frame_Shift_Del	DEL	ENST00000426739.2	37	c.1817delG	CCDS46101.1																																																																																				0.468	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2		
NLRP2	55655	broad.mit.edu	37	19	55505643	55505643	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:55505643G>A	ENST00000543010.1	+	11	2858	c.2715G>A	c.(2713-2715)tgG>tgA	p.W905*	NLRP2_ENST00000391721.4_Nonsense_Mutation_p.W881*|NLRP2_ENST00000448584.2_Nonsense_Mutation_p.W905*|NLRP2_ENST00000339757.7_Nonsense_Mutation_p.W883*|NLRP2_ENST00000427260.2_Nonsense_Mutation_p.W882*|NLRP2_ENST00000537859.1_Nonsense_Mutation_p.W883*|NLRP2_ENST00000538819.1_Nonsense_Mutation_p.W881*|NLRP2_ENST00000263437.6_Nonsense_Mutation_p.W902*	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	905					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTAGGCTTTGGAACTGCGACA	0.483																																						uc021vbq.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(2713-2715)tgG>tgA		Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.							196.0	169.0	178.0					19																	55505643		2203	4300	6503	SO:0001587	stop_gained	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55505643G>A	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2715G>A	19.37:g.55505643G>A	ENSP00000445135:p.Trp905*					NLRP2_uc010yfp.2_Nonsense_Mutation_p.W882*|NLRP2_uc002qij.3_Nonsense_Mutation_p.W905*|NLRP2_uc010esp.3_Nonsense_Mutation_p.W883*|NLRP2_uc010esn.3_Nonsense_Mutation_p.W881*|NLRP2_uc010eso.3_Nonsense_Mutation_p.W902*	p.W905*	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	10	2826	+			905					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Nonsense_Mutation	SNP	ENST00000543010.1	37	c.2715G>A	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	G	36	5.960134	0.97145	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	.	.	.	2.48	1.39	0.22231	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	7.0619	0.25131	0.0:0.2845:0.7155:0.0	.	.	.	.	X	905;881;883;905;883;882;881;902	.	ENSP00000263437:W902X	W	+	3	0	NLRP2	60197455	0.436000	0.25586	0.129000	0.21949	0.139000	0.21198	1.727000	0.38095	0.561000	0.29186	0.561000	0.74099	TGG		0.483	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852	
NLRP8	126205	broad.mit.edu	37	19	56459556	56459556	+	Silent	SNP	C	C	T	rs146471073		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:56459556C>T	ENST00000291971.3	+	1	359	c.288C>T	c.(286-288)cgC>cgT	p.R96R	NLRP8_ENST00000590542.1_Silent_p.R96R	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	96	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTGGACGACGCGCTTGGGATG	0.507																																						uc002qmh.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(286-288)cgC>cgT		Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.		C		0,4406		0,0,2203	112.0	105.0	107.0		288	-4.5	0.0	19	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NLRP8	NM_176811.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		96/1049	56459556	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	126205					cytoplasm	ATP binding	g.chr19:56459556C>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.288C>T	19.37:g.56459556C>T						NLRP8_uc010etg.3_Silent_p.R96R	p.R96R	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	0	359	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	96			DAPIN.		Q7RTR4	Silent	SNP	ENST00000291971.3	37	c.288C>T	CCDS12937.1																																																																																				0.507	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811	
C2orf78	388960	broad.mit.edu	37	2	74040759	74040759	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:74040759T>A	ENST00000409561.1	+	2	374	c.253T>A	c.(253-255)Tct>Act	p.S85T		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	85	Ser-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GCCATCAGCCTCTGGCACCTC	0.527																																						uc002sjr.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						c.(253-255)Tct>Act		Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.							53.0	55.0	54.0					2																	74040759		1992	4165	6157	SO:0001583	missense	388960							g.chr2:74040759T>A	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.253T>A	2.37:g.74040759T>A	ENSP00000387124:p.Ser85Thr						p.S85T	NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN			1	374	+			85			Ser-rich.			Missense_Mutation	SNP	ENST00000409561.1	37	c.253T>A	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.405952	0.25378	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.32023	1.47	4.7	0.814	0.18756	.	0.000000	0.34986	U	0.003532	T	0.39064	0.1064	M	0.64676	1.99	0.09310	N	1	D	0.63046	0.992	P	0.59761	0.863	T	0.16424	-1.0403	10	0.33940	T	0.23	-0.793	5.3595	0.16079	0.0:0.0945:0.3463:0.5591	.	85	A6NCI8	CB078_HUMAN	T	85	ENSP00000387124:S85T	ENSP00000340692:S85T	S	+	1	0	C2orf78	73894267	0.085000	0.21516	0.001000	0.08648	0.003000	0.03518	1.394000	0.34509	0.041000	0.15688	-0.461000	0.05368	TCT		0.527	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474	
EDAR	10913	broad.mit.edu	37	2	109526984	109526984	+	Silent	SNP	G	G	A	rs370264160		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:109526984G>A	ENST00000258443.2	-	9	1165	c.735C>T	c.(733-735)aaC>aaT	p.N245N	EDAR_ENST00000376651.1_Silent_p.N277N|EDAR_ENST00000409271.1_Silent_p.N277N	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	245					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						ACATCACCACGTTGTCTGCAG	0.552																																						uc010fjn.3																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(829-831)aaC>aaT		Homo sapiens ectodysplasin A receptor (EDAR), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	89.0	84.0	85.0		735	-7.2	0.0	2		85	0,8600		0,0,4300	no	coding-synonymous	EDAR	NM_022336.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		245/449	109526984	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109526984G>A	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.735C>T	2.37:g.109526984G>A						EDAR_uc010yws.2_Silent_p.N277N|EDAR_uc002teq.4_Silent_p.N245N	p.N277N	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN			8	1378	-			245					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Silent	SNP	ENST00000258443.2	37	c.831C>T	CCDS2081.1																																																																																				0.552	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1		
CFAP221	200373	broad.mit.edu	37	2	120385326	120385326	+	Silent	SNP	C	C	T	rs369030643		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:120385326C>T	ENST00000413369.3	+	16	1701	c.1614C>T	c.(1612-1614)ttC>ttT	p.F538F	PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000602047.1_Silent_p.F252F	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					CCTTCGCTTTCCCAGACTGCA	0.557																																						uc002tmb.3																			0											c.(754-756)ttC>ttT		Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.		C		0,4406		0,0,2203	103.0	104.0	103.0		756	2.5	1.0	2		103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PCDP1	NM_001029996.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		252/555	120385326	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	200373					cilium	calmodulin binding	g.chr2:120385326C>T																												ENST00000413369.3:c.1614C>T	2.37:g.120385326C>T						PCDP1_uc010yyq.2_Silent_p.F382F	p.F252F	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN			16	1868	+	Colorectal(110;0.196)		538						Silent	SNP	ENST00000413369.3	37	c.756C>T	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	C	1.039	-0.679567	0.03353	0.0	1.16E-4	ENSG00000163075	ENST00000443972;ENST00000413057	.	.	.	4.27	2.48	0.30137	.	.	.	.	.	T	0.54679	0.1873	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47535	-0.9110	4	.	.	.	-25.1852	6.6822	0.23127	0.0:0.7885:0.0:0.2115	.	.	.	.	F	97;86	.	.	S	+	2	0	AC069154.2	120101796	1.000000	0.71417	0.989000	0.46669	0.032000	0.12392	0.689000	0.25437	0.740000	0.32651	0.655000	0.94253	TCC		0.557	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1		
POTEE	445582	broad.mit.edu	37	2	131976471	131976471	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:131976471G>A	ENST00000356920.5	+	1	590	c.496G>A	c.(496-498)Gtg>Atg	p.V166M	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.V166M	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	166					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GGACACTGACGTGAACAAGAA	0.592																																						uc002tsn.2																			0											c.(496-498)Gtg>Atg		Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.							142.0	144.0	144.0					2																	131976471		2202	4299	6501	SO:0001583	missense	445582						ATP binding	g.chr2:131976471G>A	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.496G>A	2.37:g.131976471G>A	ENSP00000439189:p.Val166Met					PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	p.V166M	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			0	548	+			166					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.496G>A	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	6.887	0.533134	0.13188	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.69040	-0.37;0.4	1.05	-2.11	0.07187	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.60130	0.2245	M	0.82323	2.585	0.09310	N	1	D	0.64830	0.994	P	0.45946	0.498	T	0.55256	-0.8169	9	0.10111	T	0.7	.	0.4843	0.00553	0.2242:0.3331:0.2329:0.2098	.	166	Q6S8J3	POTEE_HUMAN	M	166	ENSP00000439189:V166M;ENSP00000443049:V166M	ENSP00000439189:V166M	V	+	1	0	AC131180.1	131692941	0.000000	0.05858	0.000000	0.03702	0.429000	0.31625	-1.874000	0.01636	-1.957000	0.01021	0.162000	0.16502	GTG		0.592	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538	
THSD7B	80731	broad.mit.edu	37	2	137814211	137814211	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:137814211C>T	ENST00000409968.1	+	3	539	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	THSD7B_ENST00000413152.2_Missense_Mutation_p.R90C|THSD7B_ENST00000543459.1_5'Flank|THSD7B_ENST00000272643.3_Missense_Mutation_p.R121C			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	121	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCCTTACGCTCGCGGTGAAGT	0.542																																						uc002tva.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(268-270)Cgc>Tgc		Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.							77.0	84.0	81.0					2																	137814211		2062	4203	6265	SO:0001583	missense	80731							g.chr2:137814211C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.361C>T	2.37:g.137814211C>T	ENSP00000387145:p.Arg121Cys					THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	p.R90C	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	1	268	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.268C>T		.	.	.	.	.	.	.	.	.	.	C	12.18	1.862074	0.32884	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.24538	2.38;2.24;1.85	6.07	6.07	0.98685	.	0.972227	0.08512	N	0.934707	T	0.17323	0.0416	N	0.14661	0.345	0.23936	N	0.996414	B	0.33528	0.416	B	0.26614	0.071	T	0.15896	-1.0421	9	.	.	.	.	15.1216	0.72447	0.0:0.8591:0.1409:0.0	.	90	C9JKN6	.	C	121;121;90	ENSP00000387145:R121C;ENSP00000272643:R121C;ENSP00000413841:R90C	.	R	+	1	0	THSD7B	137530681	0.000000	0.05858	0.016000	0.15963	0.142000	0.21351	0.968000	0.29357	2.890000	0.99128	0.585000	0.79938	CGC		0.542	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9	
XIRP2	129446	broad.mit.edu	37	2	168101563	168101563	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:168101563A>G	ENST00000409195.1	+	9	3750	c.3661A>G	c.(3661-3663)Aaa>Gaa	p.K1221E	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K999E|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K1221E|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1046					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGAAGTTTTGAAAAAGATCAA	0.308																																						uc002udx.3																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(3661-3663)Aaa>Gaa		Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.							46.0	44.0	45.0					2																	168101563		1807	4070	5877	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168101563A>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3661A>G	2.37:g.168101563A>G	ENSP00000386840:p.Lys1221Glu					XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.K1046E|XIRP2_uc010fpq.3_Missense_Mutation_p.K999E|XIRP2_uc010fpr.3_Intron	p.K1221E	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	3750	+			1046					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.3661A>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	9.872	1.199098	0.22121	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02709	4.19;4.19;4.19	5.76	3.41	0.39046	.	0.288417	0.38778	N	0.001565	T	0.02342	0.0072	L	0.40543	1.245	0.29036	N	0.885393	B;B;B	0.30741	0.293;0.01;0.01	B;B;B	0.25140	0.058;0.009;0.013	T	0.41627	-0.9498	10	0.18710	T	0.47	-10.7546	5.3347	0.15951	0.6956:0.1495:0.155:0.0	.	1046;1046;999	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	E	1221;1221;999	ENSP00000386840:K1221E;ENSP00000295237:K1221E;ENSP00000387255:K999E	ENSP00000295237:K1221E	K	+	1	0	XIRP2	167809809	1.000000	0.71417	0.993000	0.49108	0.964000	0.63967	1.779000	0.38624	0.474000	0.27392	0.533000	0.62120	AAA		0.308	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
TTN	7273	broad.mit.edu	37	2	179469622	179469622	+	Missense_Mutation	SNP	C	C	T	rs375895183		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:179469622C>T	ENST00000591111.1	-	231	49495	c.49271G>A	c.(49270-49272)cGc>cAc	p.R16424H	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9192H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9125H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9000H|TTN_ENST00000342992.6_Missense_Mutation_p.R15497H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18065H			Q8WZ42	TITIN_HUMAN	titin	16424			R -> P. {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGGGATGGGCGGTCTGGAAA	0.418																																						uc021vsy.1																			0		p.S15496T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(46489-46491)cGc>cAc		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,3803		0,1,1901	114.0	106.0	109.0		26999,46490,27374,27575	5.7	1.0	2		109	0,8254		0,0,4127	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,1,6028	TT,TC,CC		0.0,0.0263,0.0083	probably-damaging,probably-damaging,probably-damaging,probably-damaging	9000/26927,15497/33424,9125/27052,9192/27119	179469622	1,12057	1902	4127	6029	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179469622C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49271G>A	2.37:g.179469622C>T	ENSP00000465570:p.Arg16424His					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R9192H|TTN_uc021vta.1_Missense_Mutation_p.R9125H|TTN_uc021vtb.1_Missense_Mutation_p.R9000H	p.R15497H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		229	46715	-			16424			Fibronectin type-III 12.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.46490G>A		.	.	.	.	.	.	.	.	.	.	C	15.86	2.957856	0.53400	2.63E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.74	5.74	0.90152	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68568	0.3015	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.70139	-0.4954	9	0.87932	D	0	.	20.2982	0.98569	0.0:1.0:0.0:0.0	.	9000;9125;9192;16424	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	15497;9000;9192;9125;9000	ENSP00000343764:R15497H;ENSP00000434586:R9000H;ENSP00000340554:R9192H;ENSP00000352154:R9125H	ENSP00000340554:R9192H	R	-	2	0	TTN	179177867	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.729000	0.84864	2.873000	0.98535	0.563000	0.77884	CGC		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
UGT1A5	54579	broad.mit.edu	37	2	234621856	234621856	+	Silent	SNP	C	C	T	rs17874940		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:234621856C>T	ENST00000373414.3	+	1	219	c.219C>T	c.(217-219)aaC>aaT	p.N73N	UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000608381.1_Silent_p.N73N|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	73						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		AAGAAGAGAACTTTTTCACCC	0.512																																						uc002vuw.3																			0				breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30						c.(217-219)aaC>aaT		Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						103.0	95.0	97.0					2																	234621856		2203	4300	6503	SO:0001819	synonymous_variant	54579				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234621856C>T	M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"""UDP glucuronosyltransferases"""	12537	other	complex locus constituent		606430	"""UDP glycosyltransferase 1 family, polypeptide A5"""			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.219C>T	2.37:g.234621856C>T						UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Silent_p.N73N	p.N73N	NM_019078	NP_061951	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	0	219	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	72					B8K294	Silent	SNP	ENST00000373414.3	37	c.219C>T	CCDS33404.1																																																																																				0.512	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1	NM_019078	
SLC32A1	140679	broad.mit.edu	37	20	37356997	37356997	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr20:37356997G>A	ENST00000217420.1	+	2	1556	c.1293G>A	c.(1291-1293)tgG>tgA	p.W431*		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	431					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TGAAGTCCTGGGGGCTGACGC	0.662																																						uc002xjc.3																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38						c.(1291-1293)tgG>tgA		Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	Glycine(DB00145)						29.0	31.0	30.0					20																	37356997		2203	4300	6503	SO:0001587	stop_gained	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37356997G>A	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1293G>A	20.37:g.37356997G>A	ENSP00000217420:p.Trp431*						p.W431*	NM_080552	NP_542119	Q9H598	VIAAT_HUMAN			1	1556	+		Myeloproliferative disorder(115;0.00878)	431					Q8N489	Nonsense_Mutation	SNP	ENST00000217420.1	37	c.1293G>A	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	G	39	7.539251	0.98345	.	.	ENSG00000101438	ENST00000217420	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5666	15.2881	0.73846	0.0:0.0:1.0:0.0	.	.	.	.	X	431	.	ENSP00000217420:W431X	W	+	3	0	SLC32A1	36790411	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.739000	0.98837	2.285000	0.76669	0.563000	0.77884	TGG		0.662	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552	
SEMG1	6406	broad.mit.edu	37	20	43837278	43837278	+	Missense_Mutation	SNP	G	G	A	rs79500955	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr20:43837278G>A	ENST00000372781.3	+	2	1397	c.1340G>A	c.(1339-1341)cGt>cAt	p.R447H	SEMG1_ENST00000244069.6_Missense_Mutation_p.R387H	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	447					insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GACAGTGATCGTCATTTGGCA	0.398													g|||	14	0.00279553	0.0	0.0029	5008	,	,		21943	0.0		0.0099	False		,,,				2504	0.002					uc010ggz.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36								Homo sapiens semenogelin II (SEMG2), mRNA.		A	HIS/ARG	16,4390	23.3+/-48.9	0,16,2187	128.0	119.0	122.0		1340	1.5	0.0	20	dbSNP_131	122	59,8541	36.4+/-91.3	1,57,4242	yes	missense	SEMG1	NM_003007.3	29	1,73,6429	AA,AG,GG		0.686,0.3631,0.5767		447/463	43837278	75,12931	2203	4300	6503	SO:0001583	missense	6406				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43837278G>A		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.1340G>A	20.37:g.43837278G>A	ENSP00000361867:p.Arg447His					SEMG2_uc002xni.2_Missense_Mutation_p.R447H|SEMG2_uc002xnj.2_Missense_Mutation_p.R387H		NM_003008	NP_002999	Q02383	SEMG2_HUMAN					+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37		CCDS13345.1	10	0.004578754578754579	0	0.0	2	0.0055248618784530384	0	0.0	8	0.010554089709762533	g	0.027	-1.359398	0.01245	0.003631	0.00686	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.06449	3.3;3.3	1.47	1.47	0.22746	.	.	.	.	.	T	0.01627	0.0052	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45026	-0.9289	9	0.39692	T	0.17	.	3.4522	0.07502	0.7668:0.0:0.2332:0.0	.	387;447;387	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	H	387;447	ENSP00000244069:R387H;ENSP00000361867:R447H	ENSP00000244069:R387H	R	+	2	0	SEMG1	43270692	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.261000	0.08694	0.052000	0.16007	-0.381000	0.06696	CGT		0.398	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007	
EYA2	2139	broad.mit.edu	37	20	45811961	45811961	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr20:45811961G>C	ENST00000327619.5	+	15	1832	c.1458G>C	c.(1456-1458)agG>agC	p.R486S	EYA2_ENST00000317304.6_Missense_Mutation_p.R456S|EYA2_ENST00000357410.3_Missense_Mutation_p.R407S	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	486					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GCTTCGAGAGGATAATGCAGA	0.517																																					Pancreas(120;56 1725 18501 25218 43520)	uc002xsm.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(1456-1458)agG>agC		Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.							292.0	241.0	258.0					20																	45811961		2203	4300	6503	SO:0001583	missense	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45811961G>C		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.1458G>C	20.37:g.45811961G>C	ENSP00000333640:p.Arg486Ser					EYA2_uc010ghp.3_Missense_Mutation_p.R407S|EYA2_uc002xsq.3_Missense_Mutation_p.R456S	p.R486S	NM_005244	NP_005235	O00167	EYA2_HUMAN			14	1832	+		Myeloproliferative disorder(115;0.0241)	486					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	c.1458G>C	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838514	0.71373	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304	D;D;D	0.93906	-3.31;-3.31;-3.31	5.45	-0.294	0.12831	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.95755	0.8619	M	0.87617	2.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.85130	0.996;0.997;0.992;0.992	D	0.93347	0.6715	10	0.87932	D	0	-2.2828	6.5873	0.22628	0.3834:0.1333:0.4833:0.0	.	407;456;486;486	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	S	486;407;456;456	ENSP00000333640:R486S;ENSP00000349986:R407S;ENSP00000321590:R456S	ENSP00000321590:R456S	R	+	3	2	EYA2	45245368	0.939000	0.31865	0.997000	0.53966	0.985000	0.73830	0.069000	0.14552	-0.046000	0.13446	0.655000	0.94253	AGG		0.517	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244	
TSPEAR	54084	broad.mit.edu	37	21	45948429	45948429	+	Silent	SNP	C	C	T	rs371022077		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr21:45948429C>T	ENST00000323084.4	-	6	893	c.828G>A	c.(826-828)ccG>ccA	p.P276P	TSPEAR_ENST00000397916.1_Silent_p.P208P	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	276	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCTCGGTACACGGTGGCTGGG	0.577																																						uc002zfe.1																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(826-828)ccG>ccA		Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	126.0	103.0	111.0		828	-10.2	0.0	21		111	0,8600		0,0,4300	no	coding-synonymous	TSPEAR	NM_144991.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		276/670	45948429	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45948429C>T	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.828G>A	21.37:g.45948429C>T						TSPEAR_uc010gpv.1_Silent_p.P208P	p.P276P	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN			5	894	-			276						Silent	SNP	ENST00000323084.4	37	c.828G>A	CCDS13712.1																																																																																				0.577	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991	
GRM7	2917	broad.mit.edu	37	3	6903093	6903093	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr3:6903093G>T	ENST00000357716.4	+	1	292	c.18G>T	c.(16-18)aaG>aaT	p.K6N	GRM7_ENST00000486284.1_Missense_Mutation_p.K6N|GRM7_ENST00000403881.1_Missense_Mutation_p.K6N|GRM7_ENST00000389336.4_Missense_Mutation_p.K6N|GRM7_ENST00000402647.2_Missense_Mutation_p.K6N	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	6					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						AGCTGAGGAAGCTGCTCCGCG	0.721																																						uc003bqm.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(16-18)aaG>aaT		Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						12.0	10.0	11.0					3																	6903093		2101	4096	6197	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:6903093G>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.18G>T	3.37:g.6903093G>T	ENSP00000350348:p.Lys6Asn					GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.K6N|GRM7_uc003bql.2_Missense_Mutation_p.K6N	p.K6N	NM_000844	NP_000835	Q14831	GRM7_HUMAN			0	292	+			6					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.18G>T	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.804591	0.31869	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.89810	-2.52;-2.56;-2.56;-2.57;-2.56	4.9	3.89	0.44902	.	0.730807	0.11896	N	0.519180	T	0.77928	0.4204	N	0.08118	0	0.28181	N	0.92817	B;B;B	0.14012	0.009;0.005;0.003	B;B;B	0.14023	0.01;0.004;0.01	T	0.69363	-0.5165	10	0.49607	T	0.09	.	10.174	0.42927	0.1401:0.0:0.8598:0.0	.	6;6;6	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	N	6	ENSP00000350348:K6N;ENSP00000417536:K6N;ENSP00000373987:K6N;ENSP00000385664:K6N;ENSP00000384585:K6N	ENSP00000350348:K6N	K	+	3	2	GRM7	6878093	0.009000	0.17119	0.963000	0.40424	0.907000	0.53573	0.068000	0.14531	2.246000	0.74042	0.462000	0.41574	AAG		0.721	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844	
PRKCD	5580	broad.mit.edu	37	3	53213676	53213676	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr3:53213676C>T	ENST00000394729.2	+	3	527	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	PRKCD_ENST00000330452.3_Missense_Mutation_p.R67C	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	67	C2.	Interaction with phosphotyrosine- containing peptide.			activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.R67C(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	CTATGAGGGGCGCGTCATCCA	0.582																																						uc003dgl.3																			1	Substitution - Missense(1)	p.R67C(2)	central_nervous_system(1)	breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(199-201)Cgc>Tgc		Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.							85.0	69.0	74.0					3																	53213676		2203	4300	6503	SO:0001583	missense	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53213676C>T		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.199C>T	3.37:g.53213676C>T	ENSP00000378217:p.Arg67Cys					PRKCD_uc003dgm.3_Missense_Mutation_p.R67C|PRKCD_uc003dgn.2_Missense_Mutation_p.R67C	p.R67C	NM_006254	NP_997704	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	3	552	+		Ovarian(412;0.0728)	67			C2.	Interaction with phosphotyrosine- containing peptide.	B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	ENST00000394729.2	37	c.199C>T	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506925	0.64410	.	.	ENSG00000163932	ENST00000478843;ENST00000394729;ENST00000330452;ENST00000487897;ENST00000464818	T;T;D	0.84298	-0.53;-0.53;-1.83	4.97	4.97	0.65823	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.93025	0.7780	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.97	D	0.93978	0.7255	10	0.87932	D	0	.	17.1648	0.86812	0.0:1.0:0.0:0.0	.	67;67	C9K0E3;Q05655	.;KPCD_HUMAN	C	67	ENSP00000378217:R67C;ENSP00000331602:R67C;ENSP00000419629:R67C	ENSP00000331602:R67C	R	+	1	0	PRKCD	53188716	1.000000	0.71417	0.996000	0.52242	0.027000	0.11550	5.810000	0.69179	2.578000	0.87016	0.655000	0.94253	CGC		0.582	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1		
ST6GAL1	6480	broad.mit.edu	37	3	186791960	186791960	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr3:186791960C>T	ENST00000169298.3	+	7	1492	c.818C>T	c.(817-819)cCg>cTg	p.P273L	ST6GAL1_ENST00000448044.1_Missense_Mutation_p.P273L|ST6GAL1_ENST00000457772.2_Missense_Mutation_p.P42L	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	273					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)	p.P273L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		TACCAGAATCCGGATTATAAT	0.488																																						uc003frb.3																			1	Substitution - Missense(1)	p.P273L(2)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(817-819)cCg>cTg		Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 (ST6GAL1), transcript variant 1, mRNA.							94.0	98.0	96.0					3																	186791960		2203	4300	6503	SO:0001583	missense	6480				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr3:186791960C>T	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.818C>T	3.37:g.186791960C>T	ENSP00000169298:p.Pro273Leu					ST6GAL1_uc003frc.3_Missense_Mutation_p.P42L|ST6GAL1_uc003frd.3_Missense_Mutation_p.P273L	p.P273L	NM_173216	NP_775323	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	6	1451	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		273					A8KA14|B2R513|D3DNV3	Missense_Mutation	SNP	ENST00000169298.3	37	c.818C>T	CCDS3285.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224578	0.79576	.	.	ENSG00000073849	ENST00000169298;ENST00000457772;ENST00000427315;ENST00000448044;ENST00000442023	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.55	5.55	0.83447	.	0.050627	0.85682	D	0.000000	T	0.59280	0.2182	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.61613	-0.7027	10	0.62326	D	0.03	-27.3071	17.3798	0.87401	0.0:1.0:0.0:0.0	.	273	P15907	SIAT1_HUMAN	L	273;42;42;273;42	ENSP00000169298:P273L;ENSP00000412221:P42L;ENSP00000389337:P273L;ENSP00000403063:P42L	ENSP00000169298:P273L	P	+	2	0	ST6GAL1	188274654	0.997000	0.39634	0.920000	0.36463	0.989000	0.77384	4.640000	0.61368	2.789000	0.95967	0.655000	0.94253	CCG		0.488	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216	
UGT2A1	10941	broad.mit.edu	37	4	70455275	70455275	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:70455275G>A	ENST00000503640.1	-	6	1454	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	UGT2A1_ENST00000514019.1_Missense_Mutation_p.R633C|UGT2A1_ENST00000502343.1_5'Flank|UGT2A1_ENST00000512704.1_Missense_Mutation_p.R423C|UGT2A2_ENST00000457664.2_Missense_Mutation_p.R476C|UGT2A1_ENST00000286604.4_Missense_Mutation_p.R467C	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	467					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CCTTTGTGGCGCATGACAAAC	0.478																																						uc011caq.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(1897-1899)Cgc>Tgc		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.							135.0	132.0	133.0					4																	70455275		2203	4300	6503	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70455275G>A	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1399C>T	4.37:g.70455275G>A	ENSP00000424478:p.Arg467Cys					UGT2A1_uc010ihu.3_Missense_Mutation_p.R467C|UGT2A1_uc003hem.4_Missense_Mutation_p.R467C|UGT2A1_uc010ihs.3_Missense_Mutation_p.R476C|UGT2A1_uc021xox.1_Missense_Mutation_p.R432C|UGT2A1_uc010iht.3_Missense_Mutation_p.R423C	p.R633C	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN			6	2013	-			467					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.1897C>T	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085372	0.55861	.	.	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	D	0.84813	0.5555	M	0.84156	2.68	.	.	.	D;P;P;B;B	0.89917	1.0;0.76;0.641;0.108;0.302	D;B;B;B;B	0.87578	0.998;0.221;0.165;0.023;0.066	D	0.87617	0.2507	9	0.66056	D	0.02	.	15.8962	0.79336	0.0:0.0:1.0:0.0	.	633;633;423;476;467	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	C	476;467;423;633;467	ENSP00000387888:R476C;ENSP00000424478:R467C;ENSP00000421432:R423C;ENSP00000425497:R633C;ENSP00000286604:R467C	ENSP00000286604:R467C	R	-	1	0	UGT2A1	70489864	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.845000	0.48254	2.526000	0.85167	0.579000	0.79373	CGC		0.478	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798	
FRAS1	80144	broad.mit.edu	37	4	79362349	79362349	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:79362349C>A	ENST00000325942.6	+	41	6003	c.5563C>A	c.(5563-5565)Cac>Aac	p.H1855N	FRAS1_ENST00000264895.6_Missense_Mutation_p.H1855N	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1855					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACTCTCATTTCACCATTTTTT	0.418																																						uc003hlb.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(5563-5565)Cac>Aac		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.							114.0	103.0	107.0					4																	79362349		1895	4122	6017	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79362349C>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.5563C>A	4.37:g.79362349C>A	ENSP00000326330:p.His1855Asn					FRAS1_uc003hkw.3_Missense_Mutation_p.H1855N|FRAS1_uc010ijj.2_Missense_Mutation_p.H275N	p.H1855N	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			40	6003	+			1854					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.5563C>A	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.81|10.81	1.456345|1.456345	0.26161|0.26161	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000545316|ENST00000510944;ENST00000512123	T;T|.	0.28454|.	1.61;1.61|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.050749|.	0.85682|.	D|.	0.000000|.	T|.	0.60560|.	0.2278|.	L|L	0.31420|0.31420	0.93|0.93	0.80722|0.80722	D|D	1|1	B;B|.	0.33448|.	0.145;0.412|.	B;B|.	0.27887|.	0.032;0.084|.	T|.	0.51260|.	-0.8728|.	10|.	0.08179|.	T|.	0.78|.	.|.	20.6721|20.6721	0.99693|0.99693	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1855;1855|.	E9PHH6;A2RRR8|.	.;.|.	N|X	1855;1855;275|304;83	ENSP00000326330:H1855N;ENSP00000264895:H1855N|.	ENSP00000264895:H1855N|.	H|S	+|+	1|2	0|0	FRAS1|FRAS1	79581373|79581373	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	2.281000|2.281000	0.43452|0.43452	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	CAC|TCA		0.418	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		
OSTC	58505	broad.mit.edu	37	4	109571929	109571929	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:109571929T>C	ENST00000361564.4	+	1	190	c.118T>C	c.(118-120)Tct>Cct	p.S40P	OSTC_ENST00000505745.1_3'UTR|OSTC_ENST00000512478.2_Missense_Mutation_p.S40P|RNU6-431P_ENST00000383874.1_RNA	NM_021227.3	NP_067050.1	Q9NRP0	OSTC_HUMAN	oligosaccharyltransferase complex subunit (non-catalytic)	40					protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|oligosaccharyltransferase complex (GO:0008250)				breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						GGTGGTGGTGTCTTACTTCCT	0.612																																						uc003hzb.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						c.(118-120)Tct>Cct		Homo sapiens oligosaccharyltransferase complex subunit (OSTC), mRNA.							57.0	54.0	55.0					4																	109571929		2203	4300	6503	SO:0001583	missense	58505					integral to membrane|oligosaccharyltransferase complex		g.chr4:109571929T>C	AF201937	CCDS3681.1, CCDS58921.1, CCDS75177.1	4q25	2013-03-06	2013-03-06		ENSG00000198856	ENSG00000198856			24448	protein-coding gene	gene with protein product	"""DC2 protein"""		"""oligosaccharyltransferase complex subunit"""			15835887	Standard	NM_021227		Approved	DC2	uc031sgt.1	Q9NRP0	OTTHUMG00000161031	ENST00000361564.4:c.118T>C	4.37:g.109571929T>C	ENSP00000354676:p.Ser40Pro						p.S40P	NM_021227	NP_067050	Q9NRP0	OSTC_HUMAN			0	189	+			40					A8MYS2|B2R5H1|D6RH22|Q9P075|Q9P1R4	Missense_Mutation	SNP	ENST00000361564.4	37	c.118T>C	CCDS3681.1	.	.	.	.	.	.	.	.	.	.	.	32	5.155466	0.94686	.	.	ENSG00000198856	ENST00000361564;ENST00000512478	T;T	0.80653	-1.4;-1.4	4.94	4.94	0.65067	.	0.000000	0.85682	U	0.000000	D	0.90807	0.7113	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92294	0.5844	9	.	.	.	.	14.9165	0.70801	0.0:0.0:0.0:1.0	.	40	Q9NRP0	OSTC_HUMAN	P	40	ENSP00000354676:S40P;ENSP00000426167:S40P	.	S	+	1	0	OSTC	109791378	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.376000	0.79658	1.985000	0.57927	0.460000	0.39030	TCT		0.612	OSTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363485.1	NM_021227	
DCHS2	54798	broad.mit.edu	37	4	155226289	155226289	+	Silent	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:155226289G>A	ENST00000357232.4	-	16	3989	c.3990C>T	c.(3988-3990)acC>acT	p.T1330T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1330	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGTCAAGTATGGTGGTTGTCA	0.343																																						uc003inw.2																			0		p.T1329K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(3988-3990)acC>acT		Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.							43.0	43.0	43.0					4																	155226289		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155226289G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3990C>T	4.37:g.155226289G>A							p.T1330T	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	15	3990	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1330			Cadherin 11.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.3990C>T	CCDS3785.1																																																																																				0.343	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
TKTL2	84076	broad.mit.edu	37	4	164393803	164393803	+	Missense_Mutation	SNP	G	G	A	rs180820487	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:164393803G>A	ENST00000280605.3	-	1	1244	c.1084C>T	c.(1084-1086)Cgt>Tgt	p.R362C		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	362						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCTATGAAACGCTCAGGGTGT	0.453													G|||	3	0.000599042	0.0023	0.0	5008	,	,		22378	0.0		0.0	False		,,,				2504	0.0					uc003iqp.4																			0		p.R362H(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70						c.(1084-1086)Cgt>Tgt		Homo sapiens transketolase-like 2 (TKTL2), mRNA.		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	103.0	103.0	103.0		1084	1.2	1.0	4		103	0,8600		0,0,4300	no	missense	TKTL2	NM_032136.4	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	362/627	164393803	1,13005	2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164393803G>A	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1084C>T	4.37:g.164393803G>A	ENSP00000280605:p.Arg362Cys						p.R362C	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			0	1245	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	362					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.1084C>T	CCDS3805.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.54	3.150795	0.57151	2.27E-4	0.0	ENSG00000151005	ENST00000280605	D	0.94046	-3.34	4.15	1.2	0.21068	Transketolase-like, pyrimidine-binding domain (2);	0.061345	0.64402	D	0.000004	D	0.97380	0.9143	H	0.98314	4.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94772	0.7946	10	0.87932	D	0	-4.2438	6.0514	0.19787	0.0955:0.0:0.5343:0.3703	.	362	Q9H0I9	TKTL2_HUMAN	C	362	ENSP00000280605:R362C	ENSP00000280605:R362C	R	-	1	0	TKTL2	164613253	1.000000	0.71417	0.965000	0.40720	0.887000	0.51463	5.176000	0.65026	0.201000	0.20466	0.655000	0.94253	CGT		0.453	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136	
IRF2	3660	broad.mit.edu	37	4	185329382	185329382	+	Silent	SNP	A	A	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:185329382A>G	ENST00000393593.3	-	6	666	c.459T>C	c.(457-459)gaT>gaC	p.D153D	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	153					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CAGGAGAAAGATCACTTACTC	0.388																																						uc003iwf.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22						c.(457-459)gaT>gaC		Homo sapiens interferon regulatory factor 2 (IRF2), mRNA.							125.0	114.0	118.0					4																	185329382		2203	4300	6503	SO:0001819	synonymous_variant	3660				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr4:185329382A>G		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.459T>C	4.37:g.185329382A>G							p.D153D	NM_002199	NP_002190	P14316	IRF2_HUMAN		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	5	659	-		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	153					D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Silent	SNP	ENST00000393593.3	37	c.459T>C	CCDS3835.1	.	.	.	.	.	.	.	.	.	.	A	8.754	0.922031	0.17982	.	.	ENSG00000168310	ENST00000505067	.	.	.	5.35	3.08	0.35506	.	.	.	.	.	T	0.46132	0.1377	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36163	-0.9759	4	.	.	.	-4.9153	2.9023	0.05709	0.6045:0.1811:0.0905:0.1239	.	.	.	.	P	52	.	.	S	-	1	0	IRF2	185566376	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.805000	0.27112	0.880000	0.35969	0.379000	0.24179	TCT		0.388	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1		
TERT	7015	broad.mit.edu	37	5	1280302	1280302	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr5:1280302C>A	ENST00000310581.5	-	4	1978	c.1921G>T	c.(1921-1923)Gga>Tga	p.G641*	TERT_ENST00000508104.2_Nonsense_Mutation_p.G641*|TERT_ENST00000334602.6_Nonsense_Mutation_p.G641*|TERT_ENST00000296820.5_Nonsense_Mutation_p.G641*	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	641	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	GTTCTGGCTCCCACGACGTAG	0.557									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													uc003jcb.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(1921-1923)Gga>Tga		Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.							118.0	115.0	116.0					5																	1280302		2203	4300	6503	SO:0001587	stop_gained	7015	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1280302C>A	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1921G>T	5.37:g.1280302C>A	ENSP00000309572:p.Gly641*					TERT_uc003jbz.1_5'UTR|TERT_uc003jcc.1_Nonsense_Mutation_p.G641*|TERT_uc003jca.1_Nonsense_Mutation_p.G641*|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Nonsense_Mutation_p.G93*	p.G641*	NM_198253	NP_937983	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		3	1979	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		641			Reverse transcriptase.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Nonsense_Mutation	SNP	ENST00000310581.5	37	c.1921G>T	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	C	37	6.628631	0.97718	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	.	.	.	4.48	3.58	0.41010	.	0.229019	0.44285	D	0.000473	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-3.4559	11.4348	0.50062	0.0:0.8165:0.1835:0.0	.	.	.	.	X	641	.	ENSP00000296820:G641X	G	-	1	0	TERT	1333302	0.052000	0.20516	0.006000	0.13384	0.538000	0.34931	2.617000	0.46385	0.830000	0.34757	0.407000	0.27541	GGA		0.557	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2		
SLC6A3	6531	broad.mit.edu	37	5	1422128	1422128	+	Splice_Site	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr5:1422128G>A	ENST00000270349.9	-	5	782	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C	SLC6A3_ENST00000453492.2_Splice_Site_p.R219C	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	219					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGCACGCCACGTCTGCAGAGG	0.667																																						uc003jck.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.e5-1		Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						57.0	57.0	57.0					5																	1422128		2203	4300	6503	SO:0001630	splice_region_variant	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1422128G>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.654-1C>T	5.37:g.1422128G>A							p.E218_splice	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		5	780	-			218					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.654_splice	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.259214	0.59321	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	T;T;T	0.77877	-1.13;-1.13;-1.13	4.4	4.4	0.53042	.	0.143817	0.48767	D	0.000167	D	0.91171	0.7219	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93777	0.7080	10	0.87932	D	0	.	14.8325	0.70159	0.0:0.0:1.0:0.0	.	219	Q01959	SC6A3_HUMAN	C	219;219;145	ENSP00000270349:R219C;ENSP00000399806:R219C;ENSP00000429101:R145C	ENSP00000270349:R219C	R	-	1	0	SLC6A3	1475128	1.000000	0.71417	0.987000	0.45799	0.613000	0.37349	4.782000	0.62396	2.145000	0.66743	0.462000	0.41574	CGT		0.667	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044	Missense_Mutation
PCDHA1	56147	broad.mit.edu	37	5	140166017	140166017	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr5:140166017G>A	ENST00000504120.2	+	1	142	c.142G>A	c.(142-144)Gtt>Att	p.V48I	PCDHA1_ENST00000394633.3_Missense_Mutation_p.V48I|PCDHA1_ENST00000378133.3_Missense_Mutation_p.V48I	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	48	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V48I(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTGGCCGCGTTGCTCAGGA	0.627																																						uc003lhb.2																			2	Substitution - Missense(2)	p.V48I(2)	large_intestine(2)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(142-144)Gtt>Att		Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.							51.0	57.0	55.0					5																	140166017		2203	4300	6503	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140166017G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.142G>A	5.37:g.140166017G>A	ENSP00000420840:p.Val48Ile					PCDHAC2_uc003lha.2_Missense_Mutation_p.V48I|PCDHAC2_uc003lgz.3_Missense_Mutation_p.V48I	p.V48I	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	142	+			61			Cadherin 1.		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.142G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	N	0.121	-1.126032	0.01770	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.24538	1.85;1.85;1.85	4.53	2.0	0.26442	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.43747	N	0.000523	T	0.04318	0.0119	N	0.00151	-1.98	0.22571	N	0.99897	B;B;B	0.19073	0.004;0.033;0.007	B;B;B	0.25759	0.003;0.063;0.002	T	0.43861	-0.9365	10	0.02654	T	1	.	7.1135	0.25403	0.623:0.2973:0.0796:0.0	.	48;48;48	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	I	48	ENSP00000420840:V48I;ENSP00000378129:V48I;ENSP00000367373:V48I	ENSP00000367373:V48I	V	+	1	0	PCDHA1	140146201	0.011000	0.17503	1.000000	0.80357	0.540000	0.34992	0.440000	0.21592	0.206000	0.20587	-0.247000	0.11927	GTT		0.627	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900	
FAT2	2196	broad.mit.edu	37	5	150924338	150924338	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr5:150924338C>T	ENST00000261800.5	-	9	6362	c.6350G>A	c.(6349-6351)cGa>cAa	p.R2117Q		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2117	Cadherin 18. {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)			GGGGTCAATTCGGAAATATGT	0.433																																						uc003lue.4																			0		p.R2117*(1)		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.(6349-6351)cGa>cAa		Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.							120.0	125.0	123.0					5																	150924338		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.chr5:150924338C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6350G>A	5.37:g.150924338C>T	ENSP00000261800:p.Arg2117Gln						p.R2117Q	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	6363	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2117			Cadherin 18.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.6350G>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.563310	0.27915	.	.	ENSG00000086570	ENST00000261800	T	0.54675	0.56	5.63	5.63	0.86233	Cadherin (4);Cadherin-like (1);	0.234724	0.30649	N	0.009163	T	0.53367	0.1792	N	0.26130	0.795	0.36465	D	0.866906	D	0.76494	0.999	D	0.65233	0.933	T	0.49943	-0.8885	10	0.09338	T	0.73	.	12.9496	0.58391	0.0:0.9262:0.0:0.0738	.	2117	Q9NYQ8	FAT2_HUMAN	Q	2117	ENSP00000261800:R2117Q	ENSP00000261800:R2117Q	R	-	2	0	FAT2	150904531	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.855000	0.62925	2.658000	0.90341	0.561000	0.74099	CGA		0.433	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
GABRA1	2554	broad.mit.edu	37	5	161318009	161318009	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr5:161318009T>C	ENST00000428797.2	+	9	1164	c.809T>C	c.(808-810)gTc>gCc	p.V270A	GABRA1_ENST00000023897.6_Missense_Mutation_p.V270A|GABRA1_ENST00000444819.1_Missense_Mutation_p.V270A|GABRA1_ENST00000420560.1_Missense_Mutation_p.V270A|GABRA1_ENST00000437025.2_Missense_Mutation_p.V270A|GABRA1_ENST00000393943.4_Missense_Mutation_p.V270A	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	270					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CTCTCACAAGTCTCCTTCTGG	0.408																																						uc010jiw.3																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(808-810)gTc>gCc		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						134.0	129.0	130.0					5																	161318009		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161318009T>C		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.809T>C	5.37:g.161318009T>C	ENSP00000393097:p.Val270Ala					GABRA1_uc010jix.3_Missense_Mutation_p.V270A|GABRA1_uc010jiy.3_Missense_Mutation_p.V270A|GABRA1_uc003lyx.4_Missense_Mutation_p.V270A|GABRA1_uc010jiz.3_Missense_Mutation_p.V270A|GABRA1_uc010jja.3_Missense_Mutation_p.V270A|GABRA1_uc010jjb.3_Missense_Mutation_p.V270A	p.V270A	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	8	1277	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	270					D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.809T>C	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.949052	0.92660	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51;-2.51	5.52	5.52	0.82312	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.94355	0.8185	M	0.85197	2.74	0.80722	D	1	D	0.63880	0.993	P	0.62649	0.905	D	0.95178	0.8296	10	0.87932	D	0	.	15.6517	0.77099	0.0:0.0:0.0:1.0	.	270	P14867	GBRA1_HUMAN	A	270	ENSP00000023897:V270A;ENSP00000393097:V270A;ENSP00000377517:V270A;ENSP00000415441:V270A;ENSP00000408041:V270A;ENSP00000414232:V270A	ENSP00000023897:V270A	V	+	2	0	GABRA1	161250587	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	7.903000	0.87398	2.105000	0.64084	0.528000	0.53228	GTC		0.408	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5	
TAP1	6890	broad.mit.edu	37	6	32815851	32815851	+	Missense_Mutation	SNP	G	G	A	rs149070070	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:32815851G>A	ENST00000354258.4	-	8	1926	c.1765C>T	c.(1765-1767)Cgc>Tgc	p.R589C	TAP1_ENST00000425148.2_Missense_Mutation_p.R328C|PSMB9_ENST00000395330.1_Intron|TAPSAR1_ENST00000453426.1_lincRNA	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	589	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	TCGCCAGGGCGTAGGGTGAAT	0.582													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20992	0.0		0.0	False		,,,				2504	0.0					uc003ocg.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						c.(1765-1767)Cgc>Tgc		Homo sapiens transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1), mRNA.		G	CYS/ARG	4,3016		0,4,1506	34.0	25.0	28.0		1765	-2.2	0.0	6	dbSNP_134	28	0,5416		0,0,2708	no	missense	TAP1	NM_000593.5	180	0,4,4214	AA,AG,GG		0.0,0.1325,0.0474	benign	589/809	32815851	4,8432	1510	2708	4218	SO:0001583	missense	6890				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32815851G>A		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1765C>T	6.37:g.32815851G>A	ENSP00000346206:p.Arg589Cys					TAP1_uc011dqi.2_Missense_Mutation_p.R328C	p.R589C	NM_000593	NP_000584	Q03518	TAP1_HUMAN			7	1920	-			589			ABC transporter.		Q16149|Q96CP4	Missense_Mutation	SNP	ENST00000354258.4	37	c.1765C>T	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.390839	0.25118	0.001325	0.0	ENSG00000168394	ENST00000354258;ENST00000425148	D;D	0.94092	-3.35;-3.35	5.3	-2.18	0.07037	ABC transporter-like (1);	0.916208	0.09206	N	0.833884	T	0.79799	0.4508	L	0.56769	1.78	0.09310	N	1	B	0.23128	0.08	B	0.09377	0.004	T	0.66364	-0.5942	10	0.44086	T	0.13	-16.2647	2.5484	0.04742	0.3515:0.1055:0.4265:0.1166	.	589	Q03518	TAP1_HUMAN	C	589;328	ENSP00000346206:R589C;ENSP00000401919:R328C	ENSP00000346206:R589C	R	-	1	0	TAP1	32923829	0.000000	0.05858	0.000000	0.03702	0.866000	0.49608	-0.085000	0.11250	-0.372000	0.07992	-0.156000	0.13503	CGC		0.582	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593	
RUNX2	860	broad.mit.edu	37	6	45514681	45514681	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:45514681C>T	ENST00000371438.1	+	8	1563	c.1205C>T	c.(1204-1206)cCg>cTg	p.P402L	RUNX2_ENST00000371436.6_Missense_Mutation_p.P380L|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000352853.5_Missense_Mutation_p.P470L|RUNX2_ENST00000359524.5_Missense_Mutation_p.P388L|RUNX2_ENST00000371432.3_Missense_Mutation_p.P366L|RUNX2_ENST00000465038.2_Missense_Mutation_p.P402L|RUNX2_ENST00000541979.1_Missense_Mutation_p.P448L	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	402	Interaction with KAT6A. {ECO:0000250}.|Interaction with KAT6B.|Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						ACTTACACCCCGCCAGTCACC	0.577																																						uc011dvx.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	GRCh37	CI993086	RUNX2	I		c.(1204-1206)cCg>cTg		Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.							133.0	109.0	117.0					6																	45514681		2203	4300	6503	SO:0001583	missense	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45514681C>T	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.1205C>T	6.37:g.45514681C>T	ENSP00000360493:p.Pro402Leu					RUNX2_uc011dvy.2_Missense_Mutation_p.P380L|RUNX2_uc003oxt.3_Missense_Mutation_p.P388L	p.P402L	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN			8	1415	+			402			Interaction with MYST3 (By similarity).|Interaction with MYST4.|Pro/Ser/Thr-rich.		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.1205C>T	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130571	0.77549	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.78413	0.4279	M	0.76328	2.33	0.80722	D	1	D;D;D	0.64830	0.994;0.99;0.994	P;P;P	0.55087	0.725;0.661;0.768	T	0.80551	-0.1332	10	0.87932	D	0	-7.0788	19.922	0.97089	0.0:1.0:0.0:0.0	.	448;402;388	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	L	402;470;448;402;380;388;366	ENSP00000420707:P402L;ENSP00000319087:P470L;ENSP00000446290:P448L;ENSP00000360493:P402L;ENSP00000360491:P380L;ENSP00000352514:P388L;ENSP00000360486:P366L	ENSP00000319087:P470L	P	+	2	0	RUNX2	45622659	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.780000	0.95670	0.655000	0.94253	CCG		0.577	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348	
ZNF292	23036	broad.mit.edu	37	6	87969728	87969728	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:87969728A>G	ENST00000369577.3	+	8	6424	c.6381A>G	c.(6379-6381)atA>atG	p.I2127M	ZNF292_ENST00000339907.4_Missense_Mutation_p.I2122M	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2127						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CCTTTACGATACAGCAAAACT	0.438																																						uc003plm.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(6379-6381)atA>atG		Homo sapiens zinc finger protein 292 (ZNF292), mRNA.							88.0	89.0	89.0					6																	87969728		1911	4116	6027	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87969728A>G	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6381A>G	6.37:g.87969728A>G	ENSP00000358590:p.Ile2127Met						p.I2127M	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	7	6422	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2127					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.6381A>G	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	A	15.90	2.969089	0.53614	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.43294	0.95;0.95	5.54	1.35	0.21983	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.45276	0.1334	M	0.66939	2.045	0.31965	N	0.607938	D	0.71674	0.998	D	0.71184	0.972	T	0.41070	-0.9529	10	0.46703	T	0.11	.	11.3887	0.49800	0.5898:0.0:0.0:0.4102	.	2127	O60281	ZN292_HUMAN	M	2127;2122	ENSP00000358590:I2127M;ENSP00000342847:I2122M	ENSP00000342847:I2122M	I	+	3	3	ZNF292	88026447	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.048000	0.30379	0.905000	0.36596	0.482000	0.46254	ATA		0.438	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
LAMA2	3908	broad.mit.edu	37	6	129371228	129371228	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:129371228C>T	ENST00000421865.2	+	2	327	c.278C>T	c.(277-279)cCa>cTa	p.P93L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	93	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGCAGCAATCCAAACCGTATG	0.438																																						uc021zfb.1																			0		p.P93T(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(277-279)cCa>cTa		Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.							145.0	122.0	130.0					6																	129371228		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129371228C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.278C>T	6.37:g.129371228C>T	ENSP00000400365:p.Pro93Leu					LAMA2_uc003qbn.3_Missense_Mutation_p.P93L|LAMA2_uc003qbo.3_Missense_Mutation_p.P93L	p.P93L	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	1	383	+			93			Laminin N-terminal.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.278C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388886	0.61956	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.75367	-0.93	5.44	5.44	0.79542	Laminin, N-terminal (3);	0.321128	0.28510	N	0.015095	T	0.65565	0.2703	M	0.72624	2.21	0.53688	D	0.999971	B;B	0.16603	0.018;0.018	B;B	0.19391	0.025;0.025	T	0.68202	-0.5471	10	0.66056	D	0.02	.	14.5193	0.67840	0.0:0.9275:0.0:0.0725	.	93;93	A6NF00;P24043	.;LAMA2_HUMAN	L	93	ENSP00000400365:P93L	ENSP00000346769:P93L	P	+	2	0	LAMA2	129412921	0.034000	0.19679	0.995000	0.50966	0.897000	0.52465	2.214000	0.42853	2.552000	0.86080	0.561000	0.74099	CCA		0.438	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
GRM1	2911	broad.mit.edu	37	6	146720521	146720521	+	Silent	SNP	C	C	T	rs145874853		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:146720521C>T	ENST00000282753.1	+	7	2581	c.2346C>T	c.(2344-2346)aaC>aaT	p.N782N	GRM1_ENST00000355289.4_Silent_p.N782N|GRM1_ENST00000361719.2_Silent_p.N782N|GRM1_ENST00000507907.1_Silent_p.N782N|GRM1_ENST00000392299.2_Silent_p.N782N|GRM1_ENST00000492807.2_Silent_p.N782N			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	782					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCAACTTCAACGAGGCCAAAT	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		22842	0.001		0.0	False		,,,				2504	0.0					uc010khw.1																			0		p.N782I(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(2344-2346)aaC>aaT		Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	C	,	3,4403	6.2+/-15.9	0,3,2200	170.0	147.0	155.0		2346,2346	-10.0	0.6	6	dbSNP_134	155	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GRM1	NM_000838.3,NM_001114329.1	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	782/1195,782/907	146720521	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720521C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2346C>T	6.37:g.146720521C>T						GRM1_uc010khv.1_Silent_p.N782N|GRM1_uc003qll.2_Silent_p.N782N|GRM1_uc011edz.1_Silent_p.N782N|GRM1_uc011eea.1_Silent_p.N782N	p.N782N	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	7	2816	+		Ovarian(120;0.0387)	782					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.2346C>T	CCDS5209.1																																																																																				0.502	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838	
GRM1	2911	broad.mit.edu	37	6	146755247	146755247	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:146755247G>A	ENST00000282753.1	+	8	3135	c.2900G>A	c.(2899-2901)cGc>cAc	p.R967H	GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.R967H|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	967					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R967H(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CAGCCGATTCGCTTTAGCCCG	0.602																																						uc010khw.1																			1	Substitution - Missense(1)	p.R967H(2)	central_nervous_system(1)	NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(2899-2901)cGc>cAc		Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						94.0	96.0	95.0					6																	146755247		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755247G>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2900G>A	6.37:g.146755247G>A	ENSP00000282753:p.Arg967His					GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	p.R967H	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	3370	+		Ovarian(120;0.0387)	967					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2900G>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.547092	0.27652	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.87650	-2.28;-2.28	5.51	0.0805	0.14421	.	0.506564	0.21687	N	0.070626	T	0.59390	0.2190	L	0.36672	1.1	0.25616	N	0.986454	B	0.02656	0.0	B	0.01281	0.0	T	0.51639	-0.8680	10	0.40728	T	0.16	.	2.6279	0.04934	0.203:0.2255:0.4558:0.1157	.	967	Q13255	GRM1_HUMAN	H	967	ENSP00000354896:R967H;ENSP00000282753:R967H	ENSP00000282753:R967H	R	+	2	0	GRM1	146796940	0.702000	0.27816	0.114000	0.21550	0.829000	0.46940	1.184000	0.32053	-0.012000	0.14223	0.462000	0.41574	CGC		0.602	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838	
C6orf211	79624	broad.mit.edu	37	6	151789616	151789616	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:151789616C>G	ENST00000367294.3	+	5	956	c.697C>G	c.(697-699)Ctt>Gtt	p.L233V	C6orf211_ENST00000545879.1_Missense_Mutation_p.L114V	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	233										breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TTGGTCATTGCTTAGCAATTG	0.328																																						uc003qok.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15						c.(697-699)Ctt>Gtt		Homo sapiens chromosome 6 open reading frame 211 (C6orf211), mRNA.							88.0	91.0	90.0					6																	151789616		2203	4300	6503	SO:0001583	missense	79624						protein binding	g.chr6:151789616C>G	AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.697C>G	6.37:g.151789616C>G	ENSP00000356263:p.Leu233Val					C6orf211_uc011ees.1_Missense_Mutation_p.L114V	p.L233V	NM_024573	NP_078849	Q9H993	CF211_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)	4	956	+			233					Q96FC6|Q9UFY5	Missense_Mutation	SNP	ENST00000367294.3	37	c.697C>G	CCDS5233.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462545	0.84425	.	.	ENSG00000146476	ENST00000367294;ENST00000545879	T;T	0.12147	2.71;2.71	5.89	5.89	0.94794	Domain of unknown function DUF89 (2);	0.000000	0.85682	D	0.000000	T	0.17238	0.0414	L	0.55213	1.73	0.80722	D	1	P	0.47191	0.891	P	0.49561	0.615	T	0.00248	-1.1880	10	0.48119	T	0.1	.	20.2469	0.98398	0.0:1.0:0.0:0.0	.	233	Q9H993	CF211_HUMAN	V	233;114	ENSP00000356263:L233V;ENSP00000444121:L114V	ENSP00000356263:L233V	L	+	1	0	C6orf211	151831309	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	3.950000	0.56676	2.781000	0.95711	0.555000	0.69702	CTT		0.328	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573	
MYCT1	80177	broad.mit.edu	37	6	153043291	153043291	+	Missense_Mutation	SNP	G	G	A	rs375330501		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:153043291G>A	ENST00000367245.5	+	2	619	c.611G>A	c.(610-612)cGt>cAt	p.R204H	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	204						nucleus (GO:0005634)		p.R204H(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		AGTCTGAGCCGTCCTGACTAC	0.532																																						uc003qpc.4																			1	Substitution - Missense(1)	p.R204H(2)	prostate(1)	NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(610-612)cGt>cAt		Homo sapiens myc target 1 (MYCT1), mRNA.		G	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	111.0	106.0	108.0		611	5.8	0.5	6		108	0,8600		0,0,4300	no	missense	MYCT1	NM_025107.2	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	204/236	153043291	3,13003	2203	4300	6503	SO:0001583	missense	80177					nucleus		g.chr6:153043291G>A	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.611G>A	6.37:g.153043291G>A	ENSP00000356214:p.Arg204His						p.R204H	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	1	619	+		Ovarian(120;0.0654)	204					Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	ENST00000367245.5	37	c.611G>A	CCDS5239.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.40|16.40	3.112581|3.112581	0.56398|0.56398	6.81E-4|6.81E-4	0.0|0.0	ENSG00000120279|ENSG00000120279	ENST00000367245|ENST00000532295	T|.	0.53857|.	0.6|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.166647|.	0.52532|.	D|.	0.000078|.	T|T	0.55752|0.55752	0.1940|0.1940	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	B;B|.	0.32939|.	0.391;0.391|.	B;B|.	0.24541|.	0.054;0.037|.	T|T	0.53027|0.53027	-0.8496|-0.8496	10|5	0.59425|.	D|.	0.04|.	-15.1274|-15.1274	14.2344|14.2344	0.65916|0.65916	0.071:0.0:0.929:0.0|0.071:0.0:0.929:0.0	.|.	156;204|.	D6Q1S4;Q8N699|.	.;MYCT1_HUMAN|.	H|I	204|185	ENSP00000356214:R204H|.	ENSP00000356214:R204H|.	R|V	+|+	2|1	0|0	MYCT1|MYCT1	153084984|153084984	0.837000|0.837000	0.29446|0.29446	0.470000|0.470000	0.27216|0.27216	0.982000|0.982000	0.71751|0.71751	1.575000|1.575000	0.36493|0.36493	2.736000|2.736000	0.93811|0.93811	0.591000|0.591000	0.81541|0.81541	CGT|GTC		0.532	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107	
HDAC9	9734	broad.mit.edu	37	7	18788727	18788727	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:18788727G>A	ENST00000432645.2	+	13	2000	c.2000G>A	c.(1999-2001)cGa>cAa	p.R667Q	HDAC9_ENST00000406451.4_Missense_Mutation_p.R667Q|HDAC9_ENST00000441542.2_Missense_Mutation_p.R670Q|HDAC9_ENST00000401921.1_Missense_Mutation_p.R626Q	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	667	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.R670L(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATCTGGTCACGACTGCAAGAA	0.438																																						uc003sui.3																			2	Substitution - Missense(2)	p.R670L(3)	lung(2)	breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(2008-2010)cGa>cAa		Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	Valproic Acid(DB00313)						78.0	77.0	77.0					7																	18788727		1919	4151	6070	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18788727G>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2000G>A	7.37:g.18788727G>A	ENSP00000410337:p.Arg667Gln					HDAC9_uc003sue.3_Missense_Mutation_p.R667Q|HDAC9_uc011jyd.2_Missense_Mutation_p.R667Q|HDAC9_uc003suh.3_Missense_Mutation_p.R667Q|HDAC9_uc003suj.3_Missense_Mutation_p.R626Q|HDAC9_uc003sua.1_Missense_Mutation_p.R645Q|HDAC9_uc010kue.1_Missense_Mutation_p.R322Q	p.R670Q	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN			12	2050	+	all_lung(11;0.187)		667			Histone deacetylase.		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.2009G>A	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	35	5.421884	0.96111	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.3	5.3	0.74995	Histone deacetylase domain (2);	0.000000	0.52532	D	0.000072	T	0.79656	0.4483	L	0.55743	1.74	0.80722	D	1	P;D;D;D;D;D;D	0.89917	0.569;1.0;1.0;1.0;1.0;1.0;1.0	B;D;D;D;D;D;D	0.81914	0.391;0.994;0.991;0.991;0.995;0.991;0.995	T	0.80719	-0.1257	10	0.87932	D	0	-8.3851	19.1356	0.93426	0.0:0.0:1.0:0.0	.	667;579;626;670;667;667;645	Q9UKV0-4;Q9UKV0-2;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;.;HDAC9_HUMAN;.;.	Q	667;626;667;670;579	ENSP00000384657:R667Q;ENSP00000383912:R626Q;ENSP00000410337:R667Q;ENSP00000408617:R670Q	ENSP00000339165:R579Q	R	+	2	0	HDAC9	18755252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.756000	0.94617	0.563000	0.77884	CGA		0.438	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1		
ZPBP	11055	broad.mit.edu	37	7	50097612	50097612	+	Missense_Mutation	SNP	G	G	A	rs200427468		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:50097612G>A	ENST00000046087.2	-	4	529	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C	ZPBP_ENST00000419417.1_Missense_Mutation_p.R153C|ZPBP_ENST00000491129.1_5'Flank	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	154					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					AGTTGAAGACGTTTAACAATT	0.294													G|||	1	0.000199681	0.0	0.0	5008	,	,		18844	0.0		0.0	False		,,,				2504	0.001					uc003tou.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29						c.(460-462)Cgt>Tgt		Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	77.0	78.0	78.0		457,460	4.5	0.6	7		78	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	ZPBP	NM_001159878.1,NM_007009.2	180,180	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	153/351,154/352	50097612	1,13003	2203	4299	6502	SO:0001583	missense	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50097612G>A	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.460C>T	7.37:g.50097612G>A	ENSP00000046087:p.Arg154Cys					ZPBP_uc010kyw.3_Missense_Mutation_p.R153C	p.R154C	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN			3	530	-	Glioma(55;0.08)|all_neural(89;0.245)		154					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	ENST00000046087.2	37	c.460C>T	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202157	0.38905	0.0	1.16E-4	ENSG00000042813	ENST00000046087;ENST00000419417	T;T	0.56444	0.46;0.46	5.66	4.51	0.55191	Immunoglobulin-like (1);	0.542661	0.18129	N	0.150789	T	0.46308	0.1386	N	0.22421	0.69	0.40301	D	0.978604	D;D	0.65815	0.995;0.995	P;P	0.51229	0.663;0.663	T	0.30880	-0.9963	9	.	.	.	-8.2369	10.6887	0.45858	0.0:0.0:0.169:0.831	.	153;154	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	C	154;153	ENSP00000046087:R154C;ENSP00000402071:R153C	.	R	-	1	0	ZPBP	50068158	0.993000	0.37304	0.619000	0.29118	0.297000	0.27493	2.770000	0.47662	0.971000	0.38288	-0.467000	0.05162	CGT		0.294	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009	
POM121L12	285877	broad.mit.edu	37	7	53103630	53103630	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:53103630C>T	ENST00000408890.4	+	1	282	c.266C>T	c.(265-267)cCg>cTg	p.P89L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	89										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCGCCAAGCCGCAGCGGGTG	0.692																																						uc003tpz.3																			0		p.P89P(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(265-267)cCg>cTg		Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.							14.0	17.0	16.0					7																	53103630		1850	4063	5913	SO:0001583	missense	285877							g.chr7:53103630C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.266C>T	7.37:g.53103630C>T	ENSP00000386133:p.Pro89Leu						p.P89L	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			0	282	+			89					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.266C>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	c	2.265	-0.368320	0.05069	.	.	ENSG00000221900	ENST00000408890	T	0.25085	1.82	2.69	-0.845	0.10737	.	.	.	.	.	T	0.14184	0.0343	L	0.34521	1.04	0.09310	N	1	P	0.47484	0.896	B	0.38194	0.267	T	0.14392	-1.0474	9	0.56958	D	0.05	.	2.6987	0.05142	0.1757:0.5251:0.1734:0.1257	.	89	Q8N7R1	P1L12_HUMAN	L	89	ENSP00000386133:P89L	ENSP00000386133:P89L	P	+	2	0	POM121L12	53071124	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.482000	0.06544	-0.261000	0.09405	-2.904000	0.00092	CCG		0.692	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595	
SEMA3C	10512	broad.mit.edu	37	7	80387693	80387693	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:80387693C>T	ENST00000265361.3	-	15	2158	c.1597G>A	c.(1597-1599)Gcc>Acc	p.A533T	SEMA3C_ENST00000419255.2_Missense_Mutation_p.A533T|SEMA3C_ENST00000544525.1_Missense_Mutation_p.A551T	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	533					axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCATCCCAGGCGCAATAAGGG	0.537																																						uc011kgw.2																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1651-1653)Gcc>Acc		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.							117.0	110.0	113.0					7																	80387693		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80387693C>T	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1597G>A	7.37:g.80387693C>T	ENSP00000265361:p.Ala533Thr					SEMA3C_uc003uhj.3_Missense_Mutation_p.A533T	p.A551T	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			14	1730	-			533					B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.1651G>A	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	C	36	5.727780	0.96847	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.28069	1.63;1.63;1.63	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.62889	0.2465	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.67106	-0.5754	10	0.66056	D	0.02	.	19.6959	0.96026	0.0:1.0:0.0:0.0	.	551;533	F5H1Z7;Q99985	.;SEM3C_HUMAN	T	533;533;551	ENSP00000265361:A533T;ENSP00000411193:A533T;ENSP00000445649:A551T	ENSP00000265361:A533T	A	-	1	0	SEMA3C	80225629	1.000000	0.71417	0.991000	0.47740	0.949000	0.60115	7.776000	0.85560	2.729000	0.93468	0.467000	0.42956	GCC		0.537	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379	
PDK4	5166	broad.mit.edu	37	7	95216404	95216404	+	Missense_Mutation	SNP	C	C	T	rs530118760	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:95216404C>T	ENST00000005178.5	-	10	1210	c.1013G>A	c.(1012-1014)cGt>cAt	p.R338H		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	338	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			TGCATACAGACGAGAAATTGG	0.378													C|||	2	0.000399361	0.0	0.0029	5008	,	,		16194	0.0		0.0	False		,,,				2504	0.0					uc003uoa.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1012-1014)cGt>cAt		Homo sapiens pyruvate dehydrogenase kinase, isozyme 4 (PDK4), nuclear gene encoding mitochondrial protein, mRNA.							65.0	65.0	65.0					7																	95216404		2203	4300	6503	SO:0001583	missense	5166				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr7:95216404C>T	U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"""pyruvate dehydrogenase kinase, isoenzyme 4"""			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.1013G>A	7.37:g.95216404C>T	ENSP00000005178:p.Arg338His					PDK4_uc003unz.3_Missense_Mutation_p.R126H	p.R338H	NM_002612	NP_002603	Q16654	PDK4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		9	1333	-	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		338			Histidine kinase.			Missense_Mutation	SNP	ENST00000005178.5	37	c.1013G>A	CCDS5643.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228658	0.95173	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.57907	0.37	5.32	5.32	0.75619	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	T	0.76814	0.4040	M	0.89163	3.01	0.80722	D	1	D	0.76494	0.999	D	0.64237	0.923	T	0.80696	-0.1267	10	0.87932	D	0	.	19.5787	0.95455	0.0:1.0:0.0:0.0	.	338	Q16654	PDK4_HUMAN	H	338;302	ENSP00000005178:R338H	ENSP00000005178:R338H	R	-	2	0	PDK4	95054340	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	CGT		0.378	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333298.1	NM_002612	
KEL	3792	broad.mit.edu	37	7	142650962	142650962	+	Missense_Mutation	SNP	C	C	T	rs374644780		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:142650962C>T	ENST00000355265.2	-	9	1480	c.1006G>A	c.(1006-1008)Gtg>Atg	p.V336M	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	336					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCATGGACCACGAGGGACTGA	0.537																																						uc003wcb.3																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1006-1008)Gtg>Atg		Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.							176.0	174.0	175.0					7																	142650962		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142650962C>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1006G>A	7.37:g.142650962C>T	ENSP00000347409:p.Val336Met						p.V336M	NM_000420	NP_000411	P23276	KELL_HUMAN			8	1216	-	Melanoma(164;0.059)		336					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1006G>A	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.335237	0.24253	.	.	ENSG00000197993	ENST00000355265	T	0.76578	-1.03	5.78	-4.33	0.03677	Peptidase M13 (1);	2.972800	0.00987	N	0.003479	T	0.63414	0.2509	L	0.31065	0.9	0.09310	N	1	B	0.19817	0.039	B	0.11329	0.006	T	0.49725	-0.8909	10	0.66056	D	0.02	-0.0474	2.8257	0.05484	0.1289:0.2221:0.127:0.522	.	336	P23276	KELL_HUMAN	M	336	ENSP00000347409:V336M	ENSP00000347409:V336M	V	-	1	0	KEL	142361084	0.000000	0.05858	0.000000	0.03702	0.474000	0.32979	-1.783000	0.01770	-0.685000	0.05177	-0.702000	0.03669	GTG		0.537	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	
TRPA1	8989	broad.mit.edu	37	8	72938268	72938268	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr8:72938268C>A	ENST00000262209.4	-	25	3185	c.2978G>T	c.(2977-2979)tGg>tTg	p.W993L	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	993					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.W993S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GCGTAGAAACCAAAGTGGCAG	0.363																																						uc003xza.3																			1	Substitution - Missense(1)	p.W993S(2)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(2977-2979)tGg>tTg		Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	Menthol(DB00825)						116.0	107.0	110.0					8																	72938268		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72938268C>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2978G>T	8.37:g.72938268C>A	ENSP00000262209:p.Trp993Leu					LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	p.W993L	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		24	3153	-			993					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.2978G>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536779	0.65085	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.41758	0.99;1.07	5.79	4.89	0.63831	.	0.155196	0.64402	D	0.000007	T	0.52256	0.1723	M	0.80183	2.485	0.54753	D	0.999984	D	0.53312	0.959	P	0.48552	0.581	T	0.55036	-0.8203	10	0.27082	T	0.32	-0.1333	13.8543	0.63517	0.0:0.9244:0.0:0.0756	.	993	O75762	TRPA1_HUMAN	L	845;993	ENSP00000428151:W845L;ENSP00000262209:W993L	ENSP00000262209:W993L	W	-	2	0	TRPA1	73100822	1.000000	0.71417	0.989000	0.46669	0.644000	0.38419	4.677000	0.61634	1.411000	0.46957	0.555000	0.69702	TGG		0.363	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	
DOCK8	81704	broad.mit.edu	37	9	286581	286581	+	Missense_Mutation	SNP	G	G	A	rs375686155		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr9:286581G>A	ENST00000453981.1	+	3	389	c.277G>A	c.(277-279)Gtg>Atg	p.V93M	DOCK8_ENST00000469391.1_Missense_Mutation_p.V25M|DOCK8_ENST00000432829.2_Missense_Mutation_p.V25M			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	93					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.V25M(1)|p.V25L(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CGACTTGGACGTGGTGTTCAC	0.498																																						uc003zgf.2																			2	Substitution - Missense(2)	p.V25M(1)|p.V25L(1)	large_intestine(1)|central_nervous_system(1)	breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(277-279)Gtg>Atg		Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.							139.0	121.0	127.0					9																	286581		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:286581G>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.277G>A	9.37:g.286581G>A	ENSP00000408464:p.Val93Met					DOCK8_uc011lls.1_Missense_Mutation_p.V93M|DOCK8_uc022bcu.1_Missense_Mutation_p.V25M|DOCK8_uc010mgv.3_Missense_Mutation_p.V25M|DOCK8_uc010mgu.3_5'UTR|DOCK8_uc010mgt.3_Missense_Mutation_p.V25M|DOCK8_uc003zgg.3_Missense_Mutation_p.V25M|DOCK8_uc022bct.1_Non-coding_Transcript	p.V93M	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	2	389	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	93					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.277G>A	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413955	0.83449	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000479404;ENST00000487230;ENST00000469391	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.47	5.47	0.80525	.	0.213930	0.40640	N	0.001041	T	0.64371	0.2592	M	0.68952	2.095	0.50813	D	0.999896	D;D;D	0.89917	0.991;1.0;0.971	P;D;P	0.77557	0.837;0.99;0.746	T	0.66176	-0.5989	10	0.62326	D	0.03	.	10.8737	0.46899	0.1453:0.0:0.8547:0.0	.	25;93;93	E9PH09;A2A349;Q8NF50	.;.;DOCK8_HUMAN	M	93;93;25;25;25;25	ENSP00000408464:V93M;ENSP00000394888:V25M;ENSP00000417082:V25M;ENSP00000418318:V25M;ENSP00000419438:V25M	ENSP00000287364:V93M	V	+	1	0	DOCK8	276581	1.000000	0.71417	0.854000	0.33618	0.943000	0.58893	3.147000	0.50639	2.574000	0.86865	0.563000	0.77884	GTG		0.498	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	
GLIS3	169792	broad.mit.edu	37	9	4286000	4286000	+	Intron	SNP	G	G	A	rs199976011	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr9:4286000G>A	ENST00000381971.3	-	2	982					NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GAAAAAAATCGTTTCCATTTT	0.393																																						uc003zhx.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26								Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.							47.0	48.0	48.0					9																	4286000		1832	4083	5915	SO:0001627	intron_variant	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4286000G>A	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000381971.3:c.388+37C>T	9.37:g.4286000G>A						GLIS3_uc003zic.1_Intron|GLIS3_uc003zie.1_Intron|GLIS3_uc010mhh.1_Intron|GLIS3_uc003zid.1_Intron|GLIS3_uc010mhi.1_Intron|GLIS3_uc003zif.1_Intron|GLIS3_uc003zih.1_Intron|GLIS3_uc003zig.1_Intron|GLIS3_uc003zii.1_Silent_p.N142N		NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)			-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)						B1AL19|Q1PHK5	Silent	SNP	ENST00000381971.3	37		CCDS43784.1																																																																																				0.393	GLIS3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354776.1	NM_152629	
GPR143	4935	broad.mit.edu	37	X	9711643	9711643	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:9711643delC	ENST00000467482.1	-	6	875	c.729delG	c.(727-729)aagfs	p.K243fs	GPR143_ENST00000380929.2_Frame_Shift_Del_p.K263fs			P51810	GP143_HUMAN	G protein-coupled receptor 143	243					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				AAAATCGGATCTTGATCACGG	0.393																																						uc004cst.2																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(727-729)aagfs		Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA.							162.0	140.0	147.0					X																	9711643		2203	4300	6503	SO:0001589	frameshift_variant	4935				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding	g.chrX:9711643delC	Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"""GPCR / Unclassified : 7TM orphan receptors"""	20145	protein-coding gene	gene with protein product	"""ocular albinism 1"""	300808	"""ocular albinism 1 (Nettleship-Falls)"""	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.729delG	X.37:g.9711643delC	ENSP00000417161:p.Lys243fs						p.K243fs	NM_000273	NP_000264	P51810	GP143_HUMAN			5	877	-		Hepatocellular(5;0.000888)	243					Q6NTI7	Frame_Shift_Del	DEL	ENST00000467482.1	37	c.729delG	CCDS14134.2																																																																																				0.393	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055714.2	NM_000273	
SCML2	10389	broad.mit.edu	37	X	18260650	18260650	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:18260650G>T	ENST00000251900.4	-	14	2042	c.1883C>A	c.(1882-1884)cCt>cAt	p.P628H	SCML2_ENST00000398048.3_Intron|SCML2_ENST00000491988.1_5'Flank	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	628					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CCAGGTTGAAGGGTCCTTAGA	0.453																																					Esophageal Squamous(100;1252 1965 19021 35517)	uc004cyl.2																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1882-1884)cCt>cAt		Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.							108.0	90.0	96.0					X																	18260650		2203	4300	6503	SO:0001583	missense	10389				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:18260650G>T	Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.1883C>A	X.37:g.18260650G>T	ENSP00000251900:p.Pro628His					SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Intron|SCML2_uc011miz.1_Intron|SCML2_uc010nfc.2_Intron	p.P628H	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN			13	2040	-	Hepatocellular(33;0.183)		628					Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Missense_Mutation	SNP	ENST00000251900.4	37	c.1883C>A	CCDS14185.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551390	0.86127	.	.	ENSG00000102098	ENST00000251900	T	0.34072	1.38	5.08	5.08	0.68730	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);	0.062472	0.64402	D	0.000004	T	0.61123	0.2322	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.65813	-0.6077	10	0.87932	D	0	.	18.057	0.89366	0.0:0.0:1.0:0.0	.	628	Q9UQR0	SCML2_HUMAN	H	628	ENSP00000251900:P628H	ENSP00000251900:P628H	P	-	2	0	SCML2	18170571	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.121000	0.94375	2.288000	0.76882	0.591000	0.81541	CCT		0.453	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089	
CNKSR2	22866	broad.mit.edu	37	X	21670464	21670464	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:21670464A>G	ENST00000379510.3	+	22	2966	c.2930A>G	c.(2929-2931)gAc>gGc	p.D977G	CNKSR2_ENST00000425654.2_Missense_Mutation_p.D947G	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	977					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AAAGTCCTAGACAATCCAGAC	0.378																																						uc004czx.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2929-2931)gAc>gGc		Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.							116.0	99.0	105.0					X																	21670464		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21670464A>G	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2930A>G	X.37:g.21670464A>G	ENSP00000368824:p.Asp977Gly					CNKSR2_uc011mjo.2_Missense_Mutation_p.D947G	p.D977G	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			21	3410	+			977					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.2930A>G	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	A	10.53	1.375497	0.24857	.	.	ENSG00000149970	ENST00000425654;ENST00000379510	T;T	0.15487	2.42;2.42	5.8	5.8	0.92144	.	0.111736	0.64402	D	0.000019	T	0.11153	0.0272	N	0.19112	0.55	0.80722	D	1	P;P	0.37122	0.583;0.583	B;B	0.30646	0.08;0.118	T	0.18493	-1.0335	10	0.27082	T	0.32	-24.8868	15.0965	0.72238	1.0:0.0:0.0:0.0	.	947;977	B7ZLJ1;Q8WXI2	.;CNKR2_HUMAN	G	947;977	ENSP00000397906:D947G;ENSP00000368824:D977G	ENSP00000368824:D977G	D	+	2	0	CNKSR2	21580385	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.690000	0.61731	1.948000	0.56530	0.441000	0.28932	GAC		0.378	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927	
DMD	1756	broad.mit.edu	37	X	31986588	31986588	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:31986588G>A	ENST00000357033.4	-	45	6688	c.6482C>T	c.(6481-6483)aCa>aTa	p.T2161I	DMD_ENST00000474231.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.T2157I|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000359836.1_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2161					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGCATTCAATGTTCTGACAAC	0.428																																						uc004dda.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(6481-6483)aCa>aTa		Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.							84.0	73.0	77.0					X																	31986588		2202	4298	6500	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31986588G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6482C>T	X.37:g.31986588G>A	ENSP00000354923:p.Thr2161Ile					DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.T817I|DMD_uc004dcx.2_Missense_Mutation_p.T820I|DMD_uc004dcz.2_Missense_Mutation_p.T2038I|DMD_uc004dcy.1_Missense_Mutation_p.T2157I|DMD_uc004ddb.1_Missense_Mutation_p.T2153I|DMD_uc010ngo.1_Missense_Mutation_p.T70I|DMD_uc010ngn.1_Intron	p.T2161I	NM_004006	NP_004001	P11532	DMD_HUMAN			44	6726	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2161					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.6482C>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	4.172	0.030521	0.08101	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.50548	0.74;0.74	5.37	1.96	0.26148	.	0.822411	0.09653	U	0.773397	T	0.25269	0.0614	N	0.14661	0.345	0.09310	N	1	B;B;P;B;B;B	0.34864	0.04;0.0;0.473;0.0;0.259;0.0	B;B;B;B;B;B	0.31101	0.011;0.001;0.124;0.001;0.096;0.001	T	0.14035	-1.0487	10	0.23302	T	0.38	.	5.3244	0.15898	0.222:0.0:0.5317:0.2463	.	820;2153;2161;2157;820;817	P11532-2;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;.;DMD_HUMAN;.;.;.	I	2153;820;817;2157;2161;2161;2038	ENSP00000367948:T2157I;ENSP00000354923:T2161I	ENSP00000354923:T2161I	T	-	2	0	DMD	31896509	0.943000	0.32029	0.040000	0.18447	0.934000	0.57294	1.127000	0.31357	0.366000	0.24427	0.538000	0.68166	ACA		0.428	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
PIM2	11040	broad.mit.edu	37	X	48771498	48771498	+	Silent	SNP	C	C	A	rs376642354		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:48771498C>A	ENST00000376509.4	-	6	1035	c.846G>T	c.(844-846)ctG>ctT	p.L282L	SLC35A2_ENST00000376512.1_5'Flank|SLC35A2_ENST00000376515.3_5'Flank|SLC35A2_ENST00000247138.5_5'Flank|SLC35A2_ENST00000413561.2_5'Flank|SLC35A2_ENST00000445167.2_5'Flank|SLC35A2_ENST00000376521.1_5'Flank|SLC35A2_ENST00000452555.2_5'Flank|PIM2_ENST00000485431.1_5'UTR|SLC35A2_ENST00000376529.3_5'Flank	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	282	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						TCCAGGGGTCCAGCAGGATCT	0.617																																						uc004dls.3																			0				lung(3)|stomach(1)	4						c.(844-846)ctG>ctT		Homo sapiens pim-2 oncogene (PIM2), mRNA.		C		0,3831		0,0,1632,567	31.0	29.0	29.0		846	3.9	1.0	X		29	1,6717		0,1,2425,1866	no	coding-synonymous	PIM2	NM_006875.3		0,1,4057,2433	AA,AC,CC,C		0.0149,0.0,0.0095		282/312	48771498	1,10548	2199	4292	6491	SO:0001819	synonymous_variant	11040				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity	g.chrX:48771498C>A	U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"""pim-2 oncogene"""			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.846G>T	X.37:g.48771498C>A						SLC35A2_uc004dlo.1_5'Flank|SLC35A2_uc011mml.1_5'Flank|SLC35A2_uc004dlp.1_5'Flank|SLC35A2_uc011mmm.1_5'Flank|SLC35A2_uc011mmn.1_5'Flank|SLC35A2_uc004dlq.3_5'Flank|SLC35A2_uc011mmo.1_5'Flank	p.L282L	NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN			5	1148	-			282			Protein kinase.		A8K4G6|Q99739	Silent	SNP	ENST00000376509.4	37	c.846G>T	CCDS14312.1																																																																																				0.617	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060805.1		
P2RY4	5030	broad.mit.edu	37	X	69478786	69478786	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:69478786G>T	ENST00000374519.2	-	1	868	c.689C>A	c.(688-690)cCc>cAc	p.P230H		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	230					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GCCTGGCAAGGGCTGATACAG	0.582																																						uc004dxz.1																			0				cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						c.(688-690)cCc>cAc		Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 4 (P2RY4), mRNA.							61.0	55.0	57.0					X																	69478786		2203	4300	6503	SO:0001583	missense	5030				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:69478786G>T	X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.689C>A	X.37:g.69478786G>T	ENSP00000363643:p.Pro230His						p.P230H	NM_002565	NP_002556	P51582	P2RY4_HUMAN			0	869	-			230					Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Missense_Mutation	SNP	ENST00000374519.2	37	c.689C>A	CCDS14398.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628303	0.28978	.	.	ENSG00000186912	ENST00000374519	T	0.61859	0.07	4.43	3.55	0.40652	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	T	0.72061	0.3414	M	0.68952	2.095	0.50467	D	0.999874	D	0.89917	1.0	D	0.80764	0.994	T	0.74134	-0.3763	10	0.66056	D	0.02	.	12.728	0.57183	0.0:0.1621:0.8379:0.0	.	230	P51582	P2RY4_HUMAN	H	230	ENSP00000363643:P230H	ENSP00000363643:P230H	P	-	2	0	P2RY4	69395511	1.000000	0.71417	0.055000	0.19348	0.064000	0.16182	4.440000	0.59975	0.867000	0.35654	0.589000	0.80489	CCC		0.582	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057058.2	NM_002565	
KIF4A	24137	broad.mit.edu	37	X	69626855	69626855	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:69626855A>G	ENST00000374403.3	+	28	3267	c.3185A>G	c.(3184-3186)gAt>gGt	p.D1062G	KIF4A_ENST00000374388.3_Missense_Mutation_p.D1062G	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	1062	Globular.|Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						gatggtgatgatgatgagggg	0.433																																						uc004dyg.3																			0				breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(3184-3186)gAt>gGt		Homo sapiens kinesin family member 4A (KIF4A), mRNA.							83.0	70.0	75.0					X																	69626855		2203	4300	6503	SO:0001583	missense	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69626855A>G	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.3185A>G	X.37:g.69626855A>G	ENSP00000363524:p.Asp1062Gly					KIF4A_uc010nkw.3_Missense_Mutation_p.D1062G	p.D1062G	NM_012310	NP_036442	O95239	KIF4A_HUMAN			27	3328	+			1062			Globular.|Interaction with PRC1.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	c.3185A>G	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	A	0.270	-0.993218	0.02145	.	.	ENSG00000090889	ENST00000374388;ENST00000374403;ENST00000544650	T;T	0.69435	-0.4;-0.29	5.06	-9.97	0.00440	.	1.894140	0.02256	N	0.067131	T	0.47710	0.1460	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25467	-1.0131	9	.	.	.	.	2.9225	0.05773	0.509:0.0906:0.1253:0.2751	.	1062	O95239	KIF4A_HUMAN	G	1062;1062;364	ENSP00000363509:D1062G;ENSP00000363524:D1062G	.	D	+	2	0	KIF4A	69543580	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-2.982000	0.00662	-2.608000	0.00447	-1.043000	0.02367	GAT		0.433	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310	
MED12	9968	broad.mit.edu	37	X	70351950	70351950	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:70351950G>A	ENST00000374080.3	+	30	4179	c.4147G>A	c.(4147-4149)Gcc>Acc	p.A1383T	MED12_ENST00000374102.1_Missense_Mutation_p.A1383T|MED12_ENST00000333646.6_Missense_Mutation_p.A1383T			Q93074	MED12_HUMAN	mediator complex subunit 12	1383					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGAGAACATCGCCAAGGCCAC	0.507			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.3				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(4147-4149)Gcc>Acc		Homo sapiens mediator complex subunit 12 (MED12), mRNA.							88.0	80.0	83.0					X																	70351950		2069	4187	6256	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70351950G>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.4147G>A	X.37:g.70351950G>A	ENSP00000363193:p.Ala1383Thr					MED12_uc011mpq.1_Missense_Mutation_p.A1383T|MED12_uc004dyz.3_Missense_Mutation_p.A1383T|MED12_uc004dza.3_Missense_Mutation_p.A1230T|MED12_uc010nla.3_Missense_Mutation_p.A9T	p.A1383T	NM_005120	NP_005111	Q93074	MED12_HUMAN			29	4346	+	Renal(35;0.156)		1383					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.4147G>A	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864456	0.91511	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.61986	0.2391	M	0.78456	2.415	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.998	T	0.68823	-0.5307	10	0.87932	D	0	-14.9597	16.6215	0.84931	0.0:0.0:1.0:0.0	.	1383;1230;1383;1383	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	T	1383;1383;1383;1383;1351;128	ENSP00000333125:A1383T;ENSP00000363215:A1383T;ENSP00000363193:A1383T;ENSP00000414203:A1351T;ENSP00000408388:A128T	ENSP00000333125:A1383T	A	+	1	0	MED12	70268675	1.000000	0.71417	0.964000	0.40570	0.916000	0.54674	9.341000	0.97041	2.184000	0.69523	0.523000	0.50628	GCC		0.507	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120	
DIAPH2	1730	broad.mit.edu	37	X	96171460	96171460	+	Silent	SNP	A	A	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:96171460A>G	ENST00000324765.8	+	8	1103	c.756A>G	c.(754-756)ggA>ggG	p.G252G	DIAPH2_ENST00000373061.3_Silent_p.G252G|DIAPH2_ENST00000355827.4_Silent_p.G252G|DIAPH2_ENST00000373054.4_Silent_p.G248G|DIAPH2_ENST00000373049.4_Silent_p.G252G			O60879	DIAP2_HUMAN	diaphanous-related formin 2	252	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GGATTCTAGGAGATGAAAGAA	0.299																																						uc004efu.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(754-756)ggA>ggG		Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.							52.0	49.0	50.0					X																	96171460		2203	4296	6499	SO:0001819	synonymous_variant	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96171460A>G	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.756A>G	X.37:g.96171460A>G						DIAPH2_uc004eft.4_Silent_p.G252G|DIAPH2_uc004efs.2_Silent_p.G259G	p.G252G	NM_006729	NP_006720	O60879	DIAP2_HUMAN			7	1152	+			252			GBD/FH3.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Silent	SNP	ENST00000324765.8	37	c.756A>G	CCDS14467.1																																																																																				0.299	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309	
RGAG1	57529	broad.mit.edu	37	X	109694565	109694565	+	Silent	SNP	A	A	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:109694565A>G	ENST00000465301.2	+	3	966	c.720A>G	c.(718-720)gaA>gaG	p.E240E	RGAG1_ENST00000540313.1_Silent_p.E240E	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	240										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AAGACACCGAAGCAATGTCCA	0.468																																						uc004eor.2																			0		p.T239S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(718-720)gaA>gaG		Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.							115.0	105.0	108.0					X																	109694565		2203	4300	6503	SO:0001819	synonymous_variant	57529							g.chrX:109694565A>G	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.720A>G	X.37:g.109694565A>G						RGAG1_uc011msr.1_Silent_p.E240E	p.E240E	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			2	966	+			240					Q9P2M8	Silent	SNP	ENST00000465301.2	37	c.720A>G	CCDS14552.1																																																																																				0.468	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769	
TENM1	10178	broad.mit.edu	37	X	123637433	123637433	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:123637433T>C	ENST00000371130.3	-	19	3485	c.3422A>G	c.(3421-3423)cAt>cGt	p.H1141R	TENM1_ENST00000422452.2_Missense_Mutation_p.H1141R	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1141					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CAAAATGTGATGCTTATTCAA	0.358																																						uc010nqy.3																			0				NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						c.(3421-3423)cAt>cGt		Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.							152.0	148.0	149.0					X																	123637433		2203	4299	6502	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123637433T>C	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3422A>G	X.37:g.123637433T>C	ENSP00000360171:p.His1141Arg					ODZ1_uc011muj.2_Missense_Mutation_p.H1140R|ODZ1_uc004euj.3_Missense_Mutation_p.H1141R	p.H1141R	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN			18	3486	-			1141					B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.3422A>G	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.589291	0.86851	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90069	-2.61;-2.58	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.94640	0.8272	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	0.993;0.999;1.0	D;D;D	0.91635	0.977;0.994;0.999	D	0.95287	0.8391	10	0.87932	D	0	.	14.9788	0.71296	0.0:0.0:0.0:1.0	.	1140;1141;1141	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	R	1141	ENSP00000360171:H1141R;ENSP00000403954:H1141R	ENSP00000360171:H1141R	H	-	2	0	ODZ1	123465114	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	1.920000	0.55613	0.486000	0.48141	CAT		0.358	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
GABRE	2564	broad.mit.edu	37	X	151129839	151129839	+	Splice_Site	SNP	T	T	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:151129839T>A	ENST00000370328.3	-	5	617		c.e5-2		MIR224_ENST00000384889.1_RNA|MIR452_ENST00000385020.1_RNA|GABRE_ENST00000393914.3_Intron|GABRE_ENST00000370325.1_Splice_Site	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon						gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATGGTCATCCTGGAAGGGAGA	0.493																																						uc004ffi.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.e5-1		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.							101.0	90.0	94.0					X																	151129839		2202	4300	6502	SO:0001630	splice_region_variant	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151129839T>A	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.564-2A>T	X.37:g.151129839T>A						GABRE_uc011myd.2_Splice_Site|GABRE_uc011mye.1_Intron|MIR452_uc022cgx.1_5'Flank	p.R188_splice	NM_004961	NP_004952	P78334	GBRE_HUMAN			5	618	-	Acute lymphoblastic leukemia(192;6.56e-05)		188					E7ET93|O15345|O15346|Q6PCD2|Q99520	Splice_Site	SNP	ENST00000370328.3	37	c.564_splice	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.224146	0.79576	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5806	0.56388	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GABRE	150880495	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.442000	0.80503	1.878000	0.54408	0.486000	0.48141	.		0.493	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984	Intron
ATP2B3	492	broad.mit.edu	37	X	152801876	152801876	+	Silent	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:152801876C>T	ENST00000349466.2	+	2	497	c.171C>T	c.(169-171)agC>agT	p.S57S	ATP2B3_ENST00000359149.3_Silent_p.S57S|ATP2B3_ENST00000393842.1_Silent_p.S57S|ATP2B3_ENST00000263519.4_Silent_p.S57S|ATP2B3_ENST00000370186.1_Silent_p.S57S|ATP2B3_ENST00000370181.2_Silent_p.S57S			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	57					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGATGTCAGCGGGCTCTGCC	0.667																																						uc004fht.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(169-171)agC>agT		Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.							39.0	36.0	37.0					X																	152801876		2194	4295	6489	SO:0001819	synonymous_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152801876C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.171C>T	X.37:g.152801876C>T						ATP2B3_uc004fhs.1_Silent_p.S57S	p.S57S	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			0	297	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		57					B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	c.171C>T	CCDS35440.1																																																																																				0.667	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949	
