#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SERPINB5	5268	broad.mit.edu	37	18	61160285	61160285	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr18:61160285T>C	ENST00000382771.4	+	5	816	c.524T>C	c.(523-525)tTt>tCt	p.F175S	SERPINB5_ENST00000464346.1_3'UTR|SERPINB5_ENST00000489441.1_Missense_Mutation_p.F175S	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	175					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						ATGAAGAAATTTTCTGAATCA	0.403																																						ENST00000382771.4																			0				kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						c.(523-525)tTt>tCt		serpin peptidase inhibitor, clade B (ovalbumin), member 5							119.0	113.0	115.0					18																	61160285		2203	4300	6503	SO:0001583	missense	5268				cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61160285T>C	U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"""Serine (or cysteine) peptidase inhibitors"""	8949	protein-coding gene	gene with protein product	"""protease inhibitor 5 (maspin)"""	154790	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"""	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.524T>C	18.37:g.61160285T>C	ENSP00000372221:p.Phe175Ser					SERPINB5_ENST00000464346.1_3'UTR|SERPINB5_ENST00000489441.1_Missense_Mutation_p.F175S	p.F175S	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN			5	816	+			175					B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	c.524T>C	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.774682	0.90108	.	.	ENSG00000206075	ENST00000382771	T	0.53640	0.61	6.05	6.05	0.98169	Serpin domain (3);	0.000000	0.85682	D	0.000000	T	0.79257	0.4415	H	0.96048	3.76	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85809	0.1378	10	0.72032	D	0.01	.	16.2615	0.82549	0.0:0.0:0.0:1.0	.	175;175	P36952;P36952-2	SPB5_HUMAN;.	S	175	ENSP00000372221:F175S	ENSP00000372221:F175S	F	+	2	0	SERPINB5	59311265	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.077000	0.71275	2.323000	0.78572	0.533000	0.62120	TTT		0.403	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		29	99	0	0	0	1	0	29	99				
TBP	6908	broad.mit.edu	37	6	170871061	170871061	+	Silent	SNP	G	G	A			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr6:170871061G>A	ENST00000392092.2	+	3	516	c.237G>A	c.(235-237)caG>caA	p.Q79Q	TBP_ENST00000540980.1_Silent_p.Q59Q|TBP_ENST00000230354.6_Silent_p.Q79Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	79	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q79Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.582																																						ENST00000392092.2																			2	Substitution - coding silent(2)	p.Q79Q(2)	prostate(1)|endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(235-237)caG>caA		TATA box binding protein							12.0	17.0	15.0					6																	170871061		1930	3791	5721	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871061G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.237G>A	6.37:g.170871061G>A						TBP_ENST00000540980.1_Silent_p.Q59Q|TBP_ENST00000230354.6_Silent_p.Q79Q	p.Q79Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	516	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	79			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.237G>A	CCDS5315.1																																																																																				0.582	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	57	0	0	0	1	0	4	57				
KCNH5	27133	broad.mit.edu	37	14	63453881	63453881	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr14:63453881G>T	ENST00000322893.7	-	5	726	c.458C>A	c.(457-459)aCa>aAa	p.T153K	KCNH5_ENST00000394968.1_Missense_Mutation_p.T95K|KCNH5_ENST00000394964.2_Missense_Mutation_p.T95K|KCNH5_ENST00000420622.2_Missense_Mutation_p.T153K	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	153					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CAAAGCCCGTGTCAATCGGGC	0.378																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(457-459)aCa>aAa		potassium voltage-gated channel, subfamily H (eag-related), member 5							109.0	102.0	104.0					14																	63453881		2203	4299	6502	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63453881G>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.458C>A	14.37:g.63453881G>T	ENSP00000321427:p.Thr153Lys					KCNH5_ENST00000420622.2_Missense_Mutation_p.T153K|KCNH5_ENST00000394964.2_Missense_Mutation_p.T95K|KCNH5_ENST00000394968.1_Missense_Mutation_p.T95K	p.T153K	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	5	726	-			153					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.458C>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815412	0.70912	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.98835	-5.17;-4.98;-4.97;-4.98	5.71	5.71	0.89125	.	0.048585	0.85682	D	0.000000	D	0.97374	0.9141	L	0.54323	1.7	0.80722	D	1	B;B;B;P	0.41420	0.417;0.409;0.257;0.749	B;B;B;B	0.43225	0.098;0.139;0.096;0.412	D	0.97294	0.9926	10	0.06365	T	0.9	.	19.85	0.96736	0.0:0.0:1.0:0.0	.	95;95;153;153	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	K	153;153;95;95	ENSP00000321427:T153K;ENSP00000395439:T153K;ENSP00000378419:T95K;ENSP00000378415:T95K	ENSP00000321427:T153K	T	-	2	0	KCNH5	62523634	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	9.810000	0.99221	2.697000	0.92050	0.563000	0.77884	ACA		0.378	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		10	60	1	0	0.0692343	1	0.0692343	10	60				
OR4S2	219431	broad.mit.edu	37	11	55419263	55419263	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr11:55419263C>A	ENST00000312422.2	+	1	884	c.884C>A	c.(883-885)gCa>gAa	p.A295E		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GTAAAGAATGCAATGAAGAAA	0.363																																						ENST00000312422.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(883-885)gCa>gAa		olfactory receptor, family 4, subfamily S, member 2							134.0	128.0	130.0					11																	55419263		2179	4032	6211	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55419263C>A	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.884C>A	11.37:g.55419263C>A	ENSP00000310337:p.Ala295Glu						p.A295E	NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN			1	884	+		all_epithelial(135;0.0748)	295					Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.884C>A	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.345738	0.24426	.	.	ENSG00000174982	ENST00000312422	T	0.44881	0.91	5.35	5.35	0.76521	.	0.117523	0.38005	N	0.001849	T	0.55449	0.1921	M	0.90082	3.085	0.23063	N	0.998351	P	0.43938	0.822	B	0.40477	0.33	T	0.63134	-0.6705	10	0.87932	D	0	.	17.6379	0.88128	0.0:1.0:0.0:0.0	.	295	Q8NH73	OR4S2_HUMAN	E	295	ENSP00000310337:A295E	ENSP00000310337:A295E	A	+	2	0	OR4S2	55175839	0.001000	0.12720	0.979000	0.43373	0.120000	0.20174	0.929000	0.28844	2.508000	0.84585	0.542000	0.68232	GCA		0.363	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		13	217	1	0	0.000151284	1	0.000159043	13	217				
TSPY2	64591	broad.mit.edu	37	Y	6114373	6114373	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chrY:6114373G>A	ENST00000320701.4	+	1	110	c.64G>A	c.(64-66)Gtg>Atg	p.V22M	TSPY2_ENST00000383042.1_Missense_Mutation_p.V22M|TTTY23B_ENST00000451467.1_lincRNA	NM_022573.2	NP_072095.2	A6NKD2	TSPY2_HUMAN	testis specific protein, Y-linked 2	22					cell differentiation (GO:0030154)|gonadal mesoderm development (GO:0007506)|nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V22L(1)		liver(1)|lung(4)|prostate(1)|skin(1)	7						TTCCTGTGGCGTGGGTCGGGC	0.711																																						ENST00000320701.4																			1	Substitution - Missense(1)	p.V22L(1)	liver(1)	liver(1)|lung(4)|prostate(1)|skin(1)	7						c.(64-66)Gtg>Atg		testis specific protein, Y-linked 2							5.0	5.0	5.0					Y																	6114373		317	937	1254	SO:0001583	missense	64591				cell differentiation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus		g.chrY:6114373G>A	AF106331	CCDS35465.1	Yp11.2	2010-05-12			ENSG00000168757	ENSG00000168757			23924	protein-coding gene	gene with protein product						10773691	Standard	NM_022573		Approved	TSPYQ1	uc004fqr.1	A6NKD2	OTTHUMG00000040957	ENST00000320701.4:c.64G>A	Y.37:g.6114373G>A	ENSP00000314077:p.Val22Met					TSPY2_ENST00000383042.1_Missense_Mutation_p.V22M	p.V22M	NM_022573.2	NP_072095.2	A6NKD2	TSPY2_HUMAN			1	110	+			22						Missense_Mutation	SNP	ENST00000320701.4	37	c.64G>A	CCDS35465.1	.	.	.	.	.	.	.	.	.	.	.	7.829	0.719343	0.15372	.	.	ENSG00000168757	ENST00000383042	T	0.39229	1.09	.	.	.	.	.	.	.	.	T	0.06645	0.0170	N	0.08118	0	0.19945	N	0.999942	D;D	0.64830	0.994;0.987	B;B	0.38616	0.277;0.277	T	0.15694	-1.0428	5	.	.	.	.	.	.	.	.	22;22	A6NGT6;A6NKD2	.;TSPY2_HUMAN	M	22	ENSP00000372512:V22M	.	V	+	1	0	TSPY2	6174373	0.010000	0.17322	0.061000	0.19648	0.061000	0.15899	1.084000	0.30828	0.064000	0.16427	0.064000	0.15345	GTG		0.711	TSPY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000098313.1	NM_022573		11	20	0	0	0	1	0	11	20				
PAQR9	344838	broad.mit.edu	37	3	142681387	142681387	+	Silent	SNP	G	G	A	rs541022766		TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr3:142681387G>A	ENST00000340634.3	-	1	791	c.792C>T	c.(790-792)ttC>ttT	p.F264F	RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	264						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CACGCAGGTCGAAGAGCCAGC	0.622													g|||	1	0.000199681	0.0	0.0	5008	,	,		19464	0.0		0.0	False		,,,				2504	0.001					ENST00000340634.3																			0				endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						c.(790-792)ttC>ttT		progestin and adipoQ receptor family member IX							76.0	75.0	75.0					3																	142681387		2203	4300	6503	SO:0001819	synonymous_variant	344838					integral to membrane	receptor activity	g.chr3:142681387G>A	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.792C>T	3.37:g.142681387G>A							p.F264F	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN			1	791	-			264					Q147T6	Silent	SNP	ENST00000340634.3	37	c.792C>T	CCDS3128.1	.	.	.	.	.	.	.	.	.	.	g	8.562	0.878037	0.17395	.	.	ENSG00000188582	ENST00000492509	.	.	.	5.52	0.677	0.17964	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.0781	9.7638	0.40548	0.3937:0.0:0.6063:0.0	.	.	.	.	X	5	.	.	R	-	1	2	PAQR9	144164077	0.944000	0.32072	0.997000	0.53966	0.988000	0.76386	0.127000	0.15790	0.055000	0.16094	-0.119000	0.15052	CGA		0.622	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504		4	84	0	0	0	1	0	4	84				
PLXNA4	91584	broad.mit.edu	37	7	132169640	132169640	+	Intron	SNP	T	T	C			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr7:132169640T>C	ENST00000359827.3	-	3	2334				PLXNA4_ENST00000321063.4_Intron|PLXNA4_ENST00000378539.5_Missense_Mutation_p.I502V|PLXNA4_ENST00000423507.2_Intron			Q9HCM2	PLXA4_HUMAN	plexin A4						anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGATCTGATATTGCTTTGTGA	0.448																																						ENST00000378539.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(1504-1506)Ata>Gta		plexin A4							110.0	104.0	106.0					7																	132169640		2203	4300	6503	SO:0001627	intron_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132169640T>C	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1371+4410A>G	7.37:g.132169640T>C						PLXNA4_ENST00000359827.3_Intron|PLXNA4_ENST00000321063.4_Intron|PLXNA4_ENST00000423507.2_Intron	p.I502V	NM_181775.3	NP_861440.2	Q9HCM2	PLXA4_HUMAN			5	1880	-			0			Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.1504A>G	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.799356	0.00617	.	.	ENSG00000221866	ENST00000378539	T	0.02369	4.32	3.24	-0.406	0.12389	.	.	.	.	.	T	0.01353	0.0044	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47661	-0.9100	9	0.02654	T	1	.	7.2626	0.26212	0.0:0.3534:0.0:0.6466	.	502	A4D1N6	.	V	502	ENSP00000367800:I502V	ENSP00000367800:I502V	I	-	1	0	PLXNA4	131820180	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-0.168000	0.09925	-0.379000	0.07906	-2.109000	0.00356	ATA		0.448	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		16	74	0	0	0	1	0	16	74				
GTF2F1	2962	broad.mit.edu	37	19	6387480	6387480	+	Silent	SNP	G	G	C			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr19:6387480G>C	ENST00000394456.5	-	5	881	c.417C>G	c.(415-417)ccC>ccG	p.P139P	CTB-180A7.6_ENST00000599584.1_RNA|GTF2F1_ENST00000429701.2_Intron	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	139					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						AGTTGTGCACGGGGAAGGCCT	0.627																																						ENST00000394456.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						c.(415-417)ccC>ccG		general transcription factor IIF, polypeptide 1, 74kDa							163.0	143.0	149.0					19																	6387480		2203	4300	6503	SO:0001819	synonymous_variant	2962				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding	g.chr19:6387480G>C		CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"""General transcription factors"""	4652	protein-coding gene	gene with protein product		189968	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.417C>G	19.37:g.6387480G>C						CTB-180A7.6_ENST00000599584.1_RNA|GTF2F1_ENST00000429701.2_Intron	p.P139P	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN			5	881	-			139					B2RCS0|Q9BWN0	Silent	SNP	ENST00000394456.5	37	c.417C>G	CCDS12165.1																																																																																				0.627	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096		11	80	0	0	0	1	0	11	80				
MPEG1	219972	broad.mit.edu	37	11	58978841	58978841	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr11:58978841C>T	ENST00000361050.3	-	1	1583	c.1498G>A	c.(1498-1500)Ggc>Agc	p.G500S		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	500						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GGAAAGTAGCCGGCTGGGCAT	0.512																																						ENST00000361050.3																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1498-1500)Ggc>Agc		macrophage expressed 1							66.0	65.0	65.0					11																	58978841		1866	4106	5972	SO:0001583	missense	219972					integral to membrane		g.chr11:58978841C>T	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1498G>A	11.37:g.58978841C>T	ENSP00000354335:p.Gly500Ser						p.G500S	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	1583	-		all_epithelial(135;0.125)	500					Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.1498G>A	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.694428	0.00731	.	.	ENSG00000197629	ENST00000361050	T	0.21734	1.99	5.84	-1.84	0.07809	.	0.319686	0.34932	N	0.003565	T	0.07279	0.0184	N	0.10664	0.02	0.09310	N	0.999992	B	0.17268	0.021	B	0.09377	0.004	T	0.34775	-0.9815	10	0.16896	T	0.51	-9.3148	6.4613	0.21958	0.0:0.324:0.1349:0.541	.	500	Q2M385	MPEG1_HUMAN	S	500	ENSP00000354335:G500S	ENSP00000354335:G500S	G	-	1	0	MPEG1	58735417	0.000000	0.05858	0.041000	0.18516	0.015000	0.08874	-0.154000	0.10130	-0.116000	0.11893	-0.793000	0.03317	GGC		0.512	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		9	89	0	0	0	1	0	9	89				
RP1L1	94137	broad.mit.edu	37	8	10480545	10480545	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr8:10480545C>T	ENST00000382483.3	-	2	390	c.167G>A	c.(166-168)cGc>cAc	p.R56H	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	56	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.		R -> C.		cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTTAAAGGCGCGCTGGTGAAC	0.652																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(166-168)cGc>cAc		retinitis pigmentosa 1-like 1							37.0	43.0	41.0					8																	10480545		2103	4206	6309	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10480545C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.167G>A	8.37:g.10480545C>T	ENSP00000371923:p.Arg56His					RP1L1_ENST00000329335.3_5'UTR	p.R56H	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	2	390	-			56					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.167G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	c	34	5.370372	0.95900	.	.	ENSG00000183638	ENST00000382483	D	0.94138	-3.36	4.65	4.65	0.58169	.	.	.	.	.	D	0.96081	0.8723	M	0.66439	2.03	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.96596	0.9441	9	0.87932	D	0	-22.8248	16.6773	0.85282	0.0:1.0:0.0:0.0	.	56	A6NKC6	.	H	56	ENSP00000371923:R56H	ENSP00000371923:R56H	R	-	2	0	RP1L1	10517955	1.000000	0.71417	0.950000	0.38849	0.990000	0.78478	7.016000	0.76393	2.412000	0.81896	0.457000	0.33378	CGC		0.652	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			10	68	0	0	0	1	0	10	68				
TTC7A	57217	broad.mit.edu	37	2	47278910	47278910	+	Silent	SNP	C	C	T			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr2:47278910C>T	ENST00000319190.5	+	18	2411	c.2043C>T	c.(2041-2043)gcC>gcT	p.A681A	TTC7A_ENST00000409245.1_Silent_p.A647A|TTC7A_ENST00000394850.2_Silent_p.A705A|TTC7A_ENST00000263737.6_Silent_p.A327A	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	681					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CGTCCATCGCCGCCTCCCGGC	0.657																																						ENST00000319190.5																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(2041-2043)gcC>gcT		tetratricopeptide repeat domain 7A							46.0	48.0	47.0					2																	47278910		2198	4290	6488	SO:0001819	synonymous_variant	57217						binding	g.chr2:47278910C>T	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.2043C>T	2.37:g.47278910C>T						TTC7A_ENST00000263737.6_Silent_p.A327A|TTC7A_ENST00000409245.1_Silent_p.A647A|TTC7A_ENST00000394850.2_Silent_p.A705A	p.A681A	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		18	2411	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	681					Q6PIX4|Q8ND67|Q9BUS3	Silent	SNP	ENST00000319190.5	37	c.2043C>T	CCDS33193.1																																																																																				0.657	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		16	57	0	0	0	1	0	16	57				
HHIP	64399	broad.mit.edu	37	4	145629382	145629382	+	Missense_Mutation	SNP	C	C	A	rs202180617		TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr4:145629382C>A	ENST00000296575.3	+	7	1875	c.1220C>A	c.(1219-1221)tCc>tAc	p.S407Y		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	407					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GTGCCTTATTCCATACCAAGG	0.507																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(1219-1221)tCc>tAc		hedgehog interacting protein							144.0	114.0	124.0					4																	145629382		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145629382C>A	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1220C>A	4.37:g.145629382C>A	ENSP00000296575:p.Ser407Tyr						p.S407Y	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	7	1875	+	all_hematologic(180;0.151)		407					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.1220C>A	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	C	33	5.233703	0.95207	.	.	ENSG00000164161	ENST00000296575	T	0.12361	2.69	5.93	5.93	0.95920	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.049067	0.85682	D	0.000000	T	0.38957	0.1060	M	0.64080	1.96	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02625	-1.1132	10	0.72032	D	0.01	-11.6128	20.3398	0.98759	0.0:1.0:0.0:0.0	.	407	Q96QV1	HHIP_HUMAN	Y	407	ENSP00000296575:S407Y	ENSP00000296575:S407Y	S	+	2	0	HHIP	145848832	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	7.487000	0.81328	2.811000	0.96726	0.557000	0.71058	TCC		0.507	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			8	59	1	0	5.4927e-09	1	6.08651e-09	8	59				
DIO1	1733	broad.mit.edu	37	1	54360027	54360027	+	Splice_Site	SNP	G	G	A			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr1:54360027G>A	ENST00000525202.1	+	1	144	c.144G>A	c.(142-144)acG>acA	p.T48T	DIO1_ENST00000388876.3_Silent_p.T48T|DIO1_ENST00000532493.1_Silent_p.T48T|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000361921.3_Silent_p.T48T|DIO1_ENST00000524406.1_Intron|DIO1_ENST00000322679.6_Silent_p.T48T			P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	48					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						GCGAGAAGACGGGTATGACCA	0.527																																						ENST00000525202.1																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						c.e1+1		deiodinase, iodothyronine, type I							188.0	152.0	164.0					1																	54360027		2203	4300	6503	SO:0001630	splice_region_variant	1733				hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity	g.chr1:54360027G>A		CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1	1p33-p32	2012-03-01			ENSG00000211452	ENSG00000211452	1.97.1.10		2883	protein-coding gene	gene with protein product		147892		TXDI1		8964838	Standard	NM_000792		Approved		uc001cwb.3	P49895	OTTHUMG00000008435	ENST00000525202.1:c.145+1G>A	1.37:g.54360027G>A						DIO1_ENST00000388876.3_Silent_p.T48T|DIO1_ENST00000322679.6_Silent_p.T48T|DIO1_ENST00000532493.1_Silent_p.T48T|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000361921.3_Silent_p.T48T|DIO1_ENST00000524406.1_Intron	p.T48_splice			P49895	IOD1_HUMAN			1	144	+			48					Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Splice_Site	SNP	ENST00000525202.1	37	c.145_splice	CCDS53320.1																																																																																				0.527	DIO1-013	KNOWN	basic|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000388176.1		Silent	14	64	0	0	0	1	0	14	64				
PPP1R32	220004	broad.mit.edu	37	11	61249309	61249309	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr11:61249309G>A	ENST00000338608.2	+	2	153	c.28G>A	c.(28-30)Gtc>Atc	p.V10I	RP11-286N22.8_ENST00000543044.1_3'UTR|RP11-286N22.8_ENST00000544880.1_Intron|PPP1R32_ENST00000432063.2_Missense_Mutation_p.V10I	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	10							phosphatase binding (GO:0019902)										CCTGGGGGTCGTCTCCCCTTA	0.632																																						ENST00000338608.2																			0											c.(28-30)Gtc>Atc		protein phosphatase 1, regulatory subunit 32							27.0	29.0	28.0					11																	61249309		2202	4299	6501	SO:0001583	missense	220004							g.chr11:61249309G>A	AK057333	CCDS8008.1, CCDS53641.1	11q12.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000162148	ENSG00000162148		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28869	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 66"""	C11orf66		12477932	Standard	NM_145017		Approved	IIIG9, FLJ32771	uc001nru.2	Q7Z5V6	OTTHUMG00000168176	ENST00000338608.2:c.28G>A	11.37:g.61249309G>A	ENSP00000344140:p.Val10Ile					RP11-286N22.8_ENST00000543044.1_3'UTR|PPP1R32_ENST00000432063.2_Missense_Mutation_p.V10I|RP11-286N22.8_ENST00000544880.1_Intron	p.V10I	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN			2	153	+			10					Q4G0P4|Q96M77	Missense_Mutation	SNP	ENST00000338608.2	37	c.28G>A	CCDS8008.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642288	0.47153	.	.	ENSG00000256591;ENSG00000162148;ENSG00000162148	ENST00000541135;ENST00000432063;ENST00000338608	T;T;T	0.78816	-1.21;0.85;1.43	4.77	3.85	0.44370	.	0.264430	0.26528	N	0.023877	T	0.68265	0.2982	M	0.70595	2.14	0.80722	D	1	P;P	0.45902	0.868;0.868	B;B	0.27796	0.083;0.083	T	0.69573	-0.5109	10	0.48119	T	0.1	-9.4875	9.9773	0.41791	0.0969:0.0:0.9031:0.0	.	10;10	Q7Z5V6-2;Q7Z5V6	.;PPR32_HUMAN	I	162;10;10	ENSP00000443130:V162I;ENSP00000391560:V10I;ENSP00000344140:V10I	ENSP00000344140:V10I	V	+	1	0	C11orf66;RP11-286N22.8	61005885	0.970000	0.33590	0.976000	0.42696	0.987000	0.75469	3.668000	0.54554	1.014000	0.39417	0.407000	0.27541	GTC		0.632	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398621.1	NM_145017		3	29	0	0	0	1	0	3	29				
RYR1	6261	broad.mit.edu	37	19	38959779	38959779	+	Splice_Site	SNP	C	C	T	rs377282283		TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr19:38959779C>T	ENST00000359596.3	+	26	3555	c.3555C>T	c.(3553-3555)gaC>gaT	p.D1185D	RYR1_ENST00000355481.4_Splice_Site_p.D1185D|RYR1_ENST00000360985.3_Splice_Site_p.D1185D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1185	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGATTGGGGACGGTGAGGGCT	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20640	0.0		0.0	False		,,,				2504	0.0					ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.e26+1		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)	C	,	2,4404	4.2+/-10.8	0,2,2201	95.0	82.0	86.0		3555,3555	-2.5	1.0	19		86	0,8600		0,0,4300	no	coding-synonymous-near-splice,coding-synonymous-near-splice	RYR1	NM_000540.2,NM_001042723.1	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	1185/5039,1185/5034	38959779	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38959779C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3556+1C>T	19.37:g.38959779C>T						RYR1_ENST00000360985.3_Splice_Site_p.D1185_splice|RYR1_ENST00000359596.3_Splice_Site_p.D1185_splice	p.D1185_splice	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		26	3686	+	all_cancers(60;7.91e-06)		1185			6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Splice_Site	SNP	ENST00000359596.3	37	c.3556_splice	CCDS33011.1																																																																																				0.557	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		Silent	5	57	0	0	0	1	0	5	57				
POM121L12	285877	broad.mit.edu	37	7	53103623	53103623	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr7:53103623G>A	ENST00000408890.4	+	1	275	c.259G>A	c.(259-261)Gcc>Acc	p.A87T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	87										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCAGGACCCCGCCAAGCCGCA	0.701																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(259-261)Gcc>Acc		POM121 transmembrane nucleoporin-like 12							13.0	16.0	15.0					7																	53103623		1851	4054	5905	SO:0001583	missense	285877							g.chr7:53103623G>A		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.259G>A	7.37:g.53103623G>A	ENSP00000386133:p.Ala87Thr						p.A87T	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	275	+			87					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.259G>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	0.728	-0.780972	0.02929	.	.	ENSG00000221900	ENST00000408890	T	0.22945	1.93	2.42	-4.83	0.03161	.	.	.	.	.	T	0.11793	0.0287	N	0.20685	0.6	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.34800	-0.9814	9	0.11182	T	0.66	.	7.6738	0.28473	0.1595:0.2985:0.5421:0.0	.	87	Q8N7R1	P1L12_HUMAN	T	87	ENSP00000386133:A87T	ENSP00000386133:A87T	A	+	1	0	POM121L12	53071117	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.103000	0.00080	-2.432000	0.00556	-2.137000	0.00340	GCC		0.701	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		11	26	0	0	0	1	0	11	26				
DHH	50846	broad.mit.edu	37	12	49485161	49485161	+	Silent	SNP	C	C	T			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr12:49485161C>T	ENST00000266991.2	-	2	621	c.315G>A	c.(313-315)gaG>gaA	p.E105E	RP11-386G11.8_ENST00000553174.1_RNA|RP11-386G11.8_ENST00000548030.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	105					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(4)	8						CGTTCACCCGCTCCTTACAAC	0.587																																						ENST00000266991.2																			0				breast(1)|large_intestine(3)|lung(4)	8						c.(313-315)gaG>gaA		desert hedgehog							69.0	55.0	60.0					12																	49485161		2203	4300	6503	SO:0001819	synonymous_variant	50846				cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding	g.chr12:49485161C>T	AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"""desert hedgehog (Drosophila) homolog"""			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.315G>A	12.37:g.49485161C>T						RP11-386G11.8_ENST00000553174.1_RNA	p.E105E	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN			2	621	-			105					Q15794	Silent	SNP	ENST00000266991.2	37	c.315G>A	CCDS8779.1																																																																																				0.587	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	NM_021044		4	26	0	0	0	1	0	4	26				
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	byFrequency	TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537													.|||	3135	0.625998	0.9327	0.5014	5008	,	,		11498	0.7867		0.4702	False		,,,				2504	0.2945					ENST00000564451.1																			8	Substitution - Missense(8)	p.K213R(8)	kidney(4)|prostate(3)|urinary_tract(1)																																																0							g.chr16:90161902A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161902A>G						TUBB8P7_ENST00000567960.1_RNA								0	1255	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	33	0	0	0	1	0	3	33				
BCAM	4059	broad.mit.edu	37	19	45317538	45317538	+	Missense_Mutation	SNP	G	G	A	rs202122474		TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr19:45317538G>A	ENST00000270233.6	+	7	936	c.914G>A	c.(913-915)cGc>cAc	p.R305H	BCAM_ENST00000589651.1_Missense_Mutation_p.R305H	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	305	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				ACGCTTTTCCGCCTTCAGGTG	0.652																																						ENST00000391955.1																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(913-915)cGc>cAc		basal cell adhesion molecule (Lutheran blood group)																																				SO:0001583	missense	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45317538G>A	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.914G>A	19.37:g.45317538G>A	ENSP00000270233:p.Arg305His					BCAM_ENST00000270233.6_Missense_Mutation_p.R305H	p.R305H			P50895	BCAM_HUMAN			7	958	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	305			Ig-like C2-type 1.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	c.914G>A	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	12.17	1.858121	0.32791	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.13420	2.59;2.59	3.98	0.6	0.17524	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17492	0.0420	M	0.82056	2.57	0.19575	N	0.999963	B	0.21753	0.06	B	0.20384	0.029	T	0.24083	-1.0170	9	0.66056	D	0.02	-10.7596	6.2388	0.20778	0.3487:0.0:0.6513:0.0	.	305	P50895	BCAM_HUMAN	H	305	ENSP00000270233:R305H;ENSP00000375817:R305H	ENSP00000270233:R305H	R	+	2	0	BCAM	50009378	0.094000	0.21725	0.039000	0.18376	0.856000	0.48823	0.332000	0.19751	0.089000	0.17243	0.462000	0.41574	CGC		0.652	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		7	87	0	0	0	1	0	7	87				
CCDC112	153733	broad.mit.edu	37	5	114611297	114611297	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr5:114611297T>A	ENST00000512261.1	-	7	701	c.285A>T	c.(283-285)gaA>gaT	p.E95D	CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000395557.4_Missense_Mutation_p.E95D|CCDC112_ENST00000506442.1_Missense_Mutation_p.E95D|CCDC112_ENST00000379611.5_Missense_Mutation_p.E178D			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	95										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TAATTAGCTCTTCATATCTAA	0.289																																						ENST00000379611.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(532-534)gaA>gaT		coiled-coil domain containing 112							41.0	44.0	43.0					5																	114611297		2198	4297	6495	SO:0001583	missense	153733							g.chr5:114611297T>A	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.285A>T	5.37:g.114611297T>A	ENSP00000423712:p.Glu95Asp					CCDC112_ENST00000512261.1_Missense_Mutation_p.E95D|CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000395557.4_Missense_Mutation_p.E95D|CCDC112_ENST00000506442.1_Missense_Mutation_p.E95D	p.E178D	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)	6	821	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	95					Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	c.534A>T	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	T	13.55	2.269593	0.40095	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.25749	1.87;1.85;1.78;1.85	5.74	3.23	0.37069	.	0.089291	0.85682	D	0.000000	T	0.21881	0.0527	L	0.51422	1.61	0.30606	N	0.760016	B;B;B	0.14805	0.011;0.011;0.005	B;B;B	0.19946	0.027;0.027;0.017	T	0.14090	-1.0485	10	0.54805	T	0.06	-24.6283	6.1656	0.20388	0.2517:0.0682:0.0:0.6802	.	95;178;95	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	D	178;95;95;95	ENSP00000368931:E178D;ENSP00000423712:E95D;ENSP00000424876:E95D;ENSP00000378925:E95D	ENSP00000368931:E178D	E	-	3	2	CCDC112	114639196	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	1.663000	0.37429	0.379000	0.24794	0.528000	0.53228	GAA		0.289	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549		5	40	0	0	0	1	0	5	40				
ATP10B	23120	broad.mit.edu	37	5	160047852	160047852	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr5:160047852T>C	ENST00000327245.5	-	15	2764	c.1918A>G	c.(1918-1920)Act>Gct	p.T640A	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	640					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGGGTGCAGTGGATGAGAAT	0.552																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(1918-1920)Act>Gct		ATPase, class V, type 10B							110.0	114.0	113.0					5																	160047852		2100	4223	6323	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160047852T>C	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1918A>G	5.37:g.160047852T>C	ENSP00000313600:p.Thr640Ala					CTC-348L5.1_ENST00000523598.1_RNA	p.T640A	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		15	2764	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	640					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.1918A>G	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	T	6.641	0.486777	0.12641	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	D;D	0.85411	-1.98;-1.98	5.53	4.32	0.51571	HAD-like domain (1);	0.587140	0.17590	N	0.168811	T	0.76118	0.3943	N	0.21194	0.64	0.30651	N	0.755423	P;B	0.34462	0.454;0.139	B;B	0.38156	0.266;0.088	T	0.72821	-0.4177	9	.	.	.	.	10.1438	0.42751	0.2508:0.0:0.0:0.7492	.	248;640	Q2YDW8;O94823	.;AT10B_HUMAN	A	640;248	ENSP00000313600:T640A;ENSP00000431081:T248A	.	T	-	1	0	ATP10B	159980430	0.989000	0.36119	0.798000	0.32154	0.957000	0.61999	1.211000	0.32382	2.107000	0.64212	0.533000	0.62120	ACT		0.552	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		10	154	0	0	0	1	0	10	154				
ABCB1	5243	broad.mit.edu	37	7	87225083	87225083	+	Splice_Site	SNP	A	A	T			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr7:87225083A>T	ENST00000265724.3	-	4	533	c.116T>A	c.(115-117)aTg>aAg	p.M39K	ABCB1_ENST00000543898.1_Splice_Site_p.M39K	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	39					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AAAACTCACCATTGAAAATAC	0.274																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.e4+1		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						59.0	62.0	61.0					7																	87225083		2196	4288	6484	SO:0001630	splice_region_variant	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87225083A>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.117+1T>A	7.37:g.87225083A>T						ABCB1_ENST00000543898.1_Splice_Site_p.M39_splice	p.M39_splice	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			4	533	-	Esophageal squamous(14;0.00164)		39					A8K294|B5AK60|Q12755|Q14812	Splice_Site	SNP	ENST00000265724.3	37	c.117_splice	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	A	10.87	1.472275	0.26423	.	.	ENSG00000085563	ENST00000265724;ENST00000543898;ENST00000416177	T;T;T	0.76968	-1.06;-1.06;0.97	4.96	4.96	0.65561	ABC transporter, transmembrane domain, type 1 (1);	0.414511	0.30999	N	0.008454	T	0.59473	0.2196	N	0.08118	0	0.32252	N	0.571352	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.65405	-0.6176	10	0.87932	D	0	-15.3234	11.1923	0.48691	1.0:0.0:0.0:0.0	.	39;39	B5AK60;P08183	.;MDR1_HUMAN	K	39	ENSP00000265724:M39K;ENSP00000444095:M39K;ENSP00000399419:M39K	ENSP00000265724:M39K	M	-	2	0	ABCB1	87063019	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.864000	0.56024	2.205000	0.71048	0.454000	0.30748	ATG		0.274	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	Missense_Mutation	4	32	0	0	0	1	0	4	32				
LZTS2	84445	broad.mit.edu	37	10	102762582	102762582	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr10:102762582G>A	ENST00000370220.1	+	1	3350	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	LZTS2_ENST00000370223.3_Missense_Mutation_p.R96Q					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GAGGACTTCCGGACAGAGTCA	0.627																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1																			0				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(286-288)cGg>cAg		leucine zipper, putative tumor suppressor 2							46.0	48.0	47.0					10																	102762582		2203	4300	6503	SO:0001583	missense	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102762582G>A	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.287G>A	10.37:g.102762582G>A	ENSP00000359240:p.Arg96Gln					LZTS2_ENST00000370223.3_Missense_Mutation_p.R96Q	p.R96Q			Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	1	3350	+			96			Required for centrosomal localization (By similarity).			Missense_Mutation	SNP	ENST00000370220.1	37	c.287G>A	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220712	0.58560	.	.	ENSG00000107816	ENST00000426584;ENST00000370223;ENST00000429732;ENST00000315797;ENST00000370220;ENST00000454422	T;T	0.30981	1.51;1.51	4.78	3.85	0.44370	.	0.230280	0.37857	N	0.001909	T	0.21550	0.0519	L	0.43923	1.385	0.30882	N	0.731293	B	0.32071	0.355	B	0.18561	0.022	T	0.19877	-1.0292	10	0.56958	D	0.05	-29.372	7.9351	0.29925	0.088:0.1639:0.748:0.0	.	96	Q9BRK4	LZTS2_HUMAN	Q	96	ENSP00000359243:R96Q;ENSP00000359240:R96Q	ENSP00000314437:R96Q	R	+	2	0	LZTS2	102752572	0.976000	0.34144	1.000000	0.80357	0.990000	0.78478	2.118000	0.41949	1.085000	0.41206	0.561000	0.74099	CGG		0.627	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		13	47	0	0	0	1	0	13	47				
SCN4A	6329	broad.mit.edu	37	17	62018760	62018760	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr17:62018760C>T	ENST00000435607.1	-	24	4958	c.4882G>A	c.(4882-4884)Gac>Aac	p.D1628N	SCN4A_ENST00000578147.1_Missense_Mutation_p.D1628N	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1628					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCGTCGGGGTCGAACTTCTCC	0.562																																						ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(4882-4884)Gac>Aac		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						55.0	63.0	60.0					17																	62018760		2151	4263	6414	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62018760C>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4882G>A	17.37:g.62018760C>T	ENSP00000396320:p.Asp1628Asn					SCN4A_ENST00000435607.1_Missense_Mutation_p.D1628N	p.D1628N			P35499	SCN4A_HUMAN			24	4958	-			1628					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.4882G>A	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258713	0.80246	.	.	ENSG00000007314	ENST00000435607	D	0.98958	-5.27	3.66	3.66	0.41972	.	0.000000	0.85682	D	0.000000	D	0.99124	0.9698	M	0.93720	3.45	0.80722	D	1	D	0.54397	0.966	P	0.57846	0.828	D	0.99038	1.0823	10	0.87932	D	0	.	14.9158	0.70795	0.0:1.0:0.0:0.0	.	1628	P35499	SCN4A_HUMAN	N	1628	ENSP00000396320:D1628N	ENSP00000396320:D1628N	D	-	1	0	SCN4A	59372492	1.000000	0.71417	0.990000	0.47175	0.755000	0.42902	7.609000	0.82925	2.062000	0.61559	0.561000	0.74099	GAC		0.562	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		10	61	0	0	0	1	0	10	61				
SLC14A2	8170	broad.mit.edu	37	18	43205697	43205697	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr18:43205697T>A	ENST00000255226.6	+	3	1016	c.200T>A	c.(199-201)cTc>cAc	p.L67H	SLC14A2_ENST00000586448.1_Missense_Mutation_p.L67H	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	67					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATCGAAAAGCTCAATGAAAGG	0.502																																						ENST00000255226.6																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(199-201)cTc>cAc		solute carrier family 14 (urea transporter), member 2							67.0	62.0	64.0					18																	43205697		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43205697T>A	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.200T>A	18.37:g.43205697T>A	ENSP00000255226:p.Leu67His					SLC14A2_ENST00000586448.1_Missense_Mutation_p.L67H	p.L67H	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN			3	1016	+			67					A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.200T>A	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	T	8.575	0.880883	0.17467	.	.	ENSG00000132874	ENST00000255226;ENST00000323329	T;T	0.52754	1.36;0.65	5.98	3.24	0.37175	.	0.448399	0.25686	N	0.028970	T	0.26955	0.0660	N	0.08118	0	0.09310	N	1	P;B	0.36027	0.533;0.371	B;B	0.36885	0.235;0.176	T	0.10683	-1.0619	10	0.45353	T	0.12	-7.4558	9.4518	0.38731	0.0:0.7747:0.0:0.2253	.	67;67	Q15849;E7EPU1	UT2_HUMAN;.	H	67	ENSP00000255226:L67H;ENSP00000320689:L67H	ENSP00000255226:L67H	L	+	2	0	SLC14A2	41459695	0.189000	0.23263	0.011000	0.14972	0.094000	0.18550	0.438000	0.21559	0.425000	0.26087	-0.137000	0.14449	CTC		0.502	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			4	15	0	0	0	1	0	4	15				
SCN11A	11280	broad.mit.edu	37	3	38924806	38924806	+	Missense_Mutation	SNP	C	C	T	rs147061364	byFrequency	TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr3:38924806C>T	ENST00000302328.3	-	18	3335	c.3137G>A	c.(3136-3138)cGg>cAg	p.R1046Q	SCN11A_ENST00000444237.2_Missense_Mutation_p.R1046Q|SCN11A_ENST00000456224.3_Missense_Mutation_p.R1008Q|SCN11A_ENST00000450244.1_Missense_Mutation_p.R1046Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1046					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCAGGTTTTCCGCAGGTTCCA	0.453																																						ENST00000450244.1																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(3136-3138)cGg>cAg		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)	C	GLN/ARG	0,4406		0,0,2203	119.0	110.0	113.0		3137	5.6	1.0	3	dbSNP_134	113	2,8598	2.2+/-6.3	0,2,4298	no	missense	SCN11A	NM_014139.2	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	1046/1792	38924806	2,13004	2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38924806C>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3137G>A	3.37:g.38924806C>T	ENSP00000307599:p.Arg1046Gln					SCN11A_ENST00000456224.3_Missense_Mutation_p.R1008Q|SCN11A_ENST00000444237.2_Missense_Mutation_p.R1046Q|SCN11A_ENST00000302328.3_Missense_Mutation_p.R1046Q	p.R1046Q			Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	18	3335	-			1046					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.3137G>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	36	5.776834	0.96929	0.0	2.33E-4	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71	5.57	5.57	0.84162	Sodium ion transport-associated (1);	0.000000	0.85682	D	0.000000	D	0.98905	0.9629	M	0.86805	2.84	0.53005	D	0.99996	D	0.89917	1.0	D	0.91635	0.999	D	0.99675	1.0997	10	0.87932	D	0	.	19.5175	0.95170	0.0:1.0:0.0:0.0	.	1046	Q9UI33	SCNBA_HUMAN	Q	1046;1046;1008;1046	ENSP00000307599:R1046Q;ENSP00000400945:R1046Q;ENSP00000416757:R1008Q;ENSP00000408028:R1046Q	ENSP00000307599:R1046Q	R	-	2	0	SCN11A	38899810	0.992000	0.36948	1.000000	0.80357	0.992000	0.81027	7.453000	0.80700	2.780000	0.95670	0.655000	0.94253	CGG		0.453	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		6	69	0	0	0	1	0	6	69				
STAT3	6774	broad.mit.edu	37	17	40475084	40475084	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr17:40475084C>G	ENST00000264657.5	-	20	2138	c.1826G>C	c.(1825-1827)aGa>aCa	p.R609T	STAT3_ENST00000404395.3_Missense_Mutation_p.R609T|STAT3_ENST00000585517.1_Missense_Mutation_p.R609T|STAT3_ENST00000389272.3_Missense_Mutation_p.R511T|STAT3_ENST00000588969.1_Missense_Mutation_p.R609T	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	609	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TTCACTGAATCTTAGCAGGAA	0.562									Hyperimmunoglobulin E Recurrent Infection Syndrome		OREG0024421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264657.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1825-1827)aGa>aCa		signal transducer and activator of transcription 3 (acute-phase response factor)							146.0	136.0	139.0					17																	40475084		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40475084C>G	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1826G>C	17.37:g.40475084C>G	ENSP00000264657:p.Arg609Thr		OREG0024421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	893	STAT3_ENST00000585517.1_Missense_Mutation_p.R609T|STAT3_ENST00000404395.3_Missense_Mutation_p.R609T|STAT3_ENST00000389272.3_Missense_Mutation_p.R511T|STAT3_ENST00000588969.1_Missense_Mutation_p.R609T	p.R609T	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	20	2138	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	609			SH2.		A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.1826G>C	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216863	0.79352	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.99287	-5.69;-5.69;-5.69	5.22	5.22	0.72569	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.98874	0.9619	M	0.80422	2.495	0.80722	D	1	B;B;B	0.30193	0.23;0.272;0.272	B;B;B	0.36719	0.148;0.231;0.231	D	0.99719	1.1009	10	0.87932	D	0	-41.6973	18.9715	0.92716	0.0:1.0:0.0:0.0	.	609;609;609	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	T	609;511;609	ENSP00000264657:R609T;ENSP00000373923:R511T;ENSP00000384943:R609T	ENSP00000264657:R609T	R	-	2	0	STAT3	37728610	1.000000	0.71417	0.200000	0.23457	0.929000	0.56500	7.544000	0.82117	2.717000	0.92951	0.609000	0.83330	AGA		0.562	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		23	124	0	0	0	1	0	23	124				
SP1	6667	broad.mit.edu	37	12	53777378	53777378	+	Silent	SNP	C	C	G			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr12:53777378C>G	ENST00000327443.4	+	3	1745	c.1647C>G	c.(1645-1647)ggC>ggG	p.G549G	SP1_ENST00000426431.2_Silent_p.G542G	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	549	Transactivation domain C (highly charged).				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CAATTCAAGGCCTGCCGTTGG	0.478																																						ENST00000426431.2																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(1624-1626)ggC>ggG		Sp1 transcription factor							78.0	80.0	79.0					12																	53777378		2203	4300	6503	SO:0001819	synonymous_variant	0				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53777378C>G	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.1647C>G	12.37:g.53777378C>G						SP1_ENST00000327443.4_Silent_p.G549G	p.G542G	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	3	1686	+			549			Transactivation domain C (highly charged).		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Silent	SNP	ENST00000327443.4	37	c.1626C>G	CCDS8857.1																																																																																				0.478	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			16	81	0	0	0	1	0	16	81				
VPS11	55823	broad.mit.edu	37	11	118949955	118949955	+	Silent	SNP	C	C	A			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr11:118949955C>A	ENST00000300793.6	+	15	2422	c.2380C>A	c.(2380-2382)Cgg>Agg	p.R794R	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	795					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GCGGGTGCGGCGGTACCGAGA	0.582																																						ENST00000300793.6																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29						c.(2380-2382)Cgg>Agg		vacuolar protein sorting 11 homolog (S. cerevisiae)							26.0	28.0	28.0					11																	118949955		2051	4206	6257	SO:0001819	synonymous_variant	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118949955C>A	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.2380C>A	11.37:g.118949955C>A						VPS11_ENST00000527798.1_3'UTR	p.R794R	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	15	2422	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	795					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Silent	SNP	ENST00000300793.6	37	c.2380C>A																																																																																					0.582	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		3	13	1	0	0.00024832	1	0.000254528	3	13				
HOXC8	3224	broad.mit.edu	37	12	54403269	54403269	+	Silent	SNP	C	C	A			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr12:54403269C>A	ENST00000040584.4	+	1	438	c.201C>A	c.(199-201)atC>atA	p.I67I	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	67					anterior/posterior pattern specification (GO:0009952)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						CCTCCGGCATCTCCAACTCAG	0.637																																					GBM(197;701 2226 7002 18822 41696)	ENST00000040584.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						c.(199-201)atC>atA		homeobox C8							123.0	135.0	131.0					12																	54403269		2203	4300	6503	SO:0001819	synonymous_variant	3224					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54403269C>A	X99680	CCDS8870.1	12q13.13	2011-06-20	2005-12-22			ENSG00000037965		"""Homeoboxes / ANTP class : HOXL subclass"""	5129	protein-coding gene	gene with protein product		142970	"""homeo box C8"""	HOX3, HOX3A		1973146, 1358459	Standard	NM_022658		Approved		uc001ser.3	P31273		ENST00000040584.4:c.201C>A	12.37:g.54403269C>A							p.I67I	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN			1	438	+			67					A8K4J4|O15221|O15362	Silent	SNP	ENST00000040584.4	37	c.201C>A	CCDS8870.1																																																																																				0.637	HOXC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358957.2			15	260	1	0	2.23348e-06	1	2.40981e-06	15	260				
PIWIL1	9271	broad.mit.edu	37	12	130830316	130830316	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr12:130830316G>A	ENST00000245255.3	+	4	481	c.209G>A	c.(208-210)gGa>gAa	p.G70E		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	70					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATATCTGCTGGATTTCAGGAG	0.378																																						ENST00000245255.3																			0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(208-210)gGa>gAa		piwi-like RNA-mediated gene silencing 1							159.0	157.0	158.0					12																	130830316		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130830316G>A	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.209G>A	12.37:g.130830316G>A	ENSP00000245255:p.Gly70Glu						p.G70E	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	4	481	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		70					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.209G>A	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070667	0.76301	.	.	ENSG00000125207	ENST00000245255;ENST00000546060;ENST00000539400;ENST00000539995;ENST00000535956;ENST00000542723	T;T;T;T;T;T	0.08807	3.05;3.05;3.05;3.05;3.05;3.05	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.30262	0.0759	M	0.70842	2.15	0.80722	D	1	D;D	0.89917	0.965;1.0	P;D	0.76071	0.796;0.987	T	0.00070	-1.2133	10	0.39692	T	0.17	-1.3733	19.4463	0.94849	0.0:0.0:1.0:0.0	.	70;70	Q96J94;Q96J94-2	PIWL1_HUMAN;.	E	70	ENSP00000245255:G70E;ENSP00000442086:G70E;ENSP00000440677:G70E;ENSP00000439096:G70E;ENSP00000444353:G70E;ENSP00000438582:G70E	ENSP00000245255:G70E	G	+	2	0	PIWIL1	129396269	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.346000	0.97056	2.835000	0.97688	0.650000	0.86243	GGA		0.378	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			14	57	0	0	0	1	0	14	57				
FGFBP1	9982	broad.mit.edu	37	4	15938178	15938178	+	Frame_Shift_Del	DEL	T	T	-	rs144178676|rs562275732	byFrequency	TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr4:15938178delT	ENST00000382333.1	-	3	372	c.78delA	c.(76-78)aaafs	p.K26fs	FGFBP1_ENST00000259988.2_Frame_Shift_Del_p.K26fs	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	26					cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						CATTCTTCACTTTTTTTTTCC	0.527													TTTTTTTTT|TTTTTTTTT|TTTTTTTT|deletion	6	0.00119808	0.0015	0.0	5008	,	,		22647	0.002		0.002	False		,,,				2504	0.0					ENST00000382333.1																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						c.(76-78)aafs		fibroblast growth factor binding protein 1				10,149,4099		0,0,10,41,67,2011	73.0	76.0	75.0			-0.2	0.0	4	dbSNP_134	77	35,268,7925		0,0,35,67,134,3878	no	codingComplex	FGFBP1	NM_005130.3		0,0,45,108,201,5889	A1A1,A1A2,A1R,A2A2,A2R,RR		3.6825,3.7341,3.7001			15938178	45,417,12024	2202	4298	6500	SO:0001589	frameshift_variant	9982				cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding	g.chr4:15938178delT	M60047	CCDS3418.1	4p15.32	2008-02-05			ENSG00000137440	ENSG00000137440			19695	protein-coding gene	gene with protein product		607737				11148217, 1885605	Standard	NM_005130		Approved	HBP17, FGFBP	uc003gom.3	Q14512	OTTHUMG00000097745	ENST00000382333.1:c.78delA	4.37:g.15938178delT	ENSP00000371770:p.Lys26fs					FGFBP1_ENST00000259988.2_Frame_Shift_Del_p.K26fs	p.K26fs	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN			3	372	-			26					A8K5J2	Frame_Shift_Del	DEL	ENST00000382333.1	37	c.78delA	CCDS3418.1																																																																																				0.527	FGFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214974.1	NM_005130		7	107						7	107	---	---	---	---
RP11-360K13.1	0	broad.mit.edu	37	11	96515048	96515048	+	lincRNA	DEL	T	T	-			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr11:96515048delT	ENST00000527528.1	+	0	158																											AGGCAGCTGGTTTTTTTTGAA	0.378																																						ENST00000527528.1																			0																																																			0							g.chr11:96515048delT																													11.37:g.96515048delT														0	158	+									RNA	DEL	ENST00000527528.1	37																																																																																						0.378	RP11-360K13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000395474.1			2	4						2	4	---	---	---	---
CSNK1A1L	122011	broad.mit.edu	37	13	37678967	37678967	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr13:37678967delG	ENST00000379800.3	-	1	836	c.427delC	c.(427-429)ctgfs	p.L143fs		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	143	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GTACCCATCAGGAAGTTATCT	0.408																																						ENST00000379800.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37						c.(427-429)tgfs		casein kinase 1, alpha 1-like							198.0	182.0	188.0					13																	37678967		2203	4300	6503	SO:0001589	frameshift_variant	122011				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37678967delG	BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.427delC	13.37:g.37678967delG	ENSP00000369126:p.Leu143fs						p.L143fs	NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	1	836	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	143			Protein kinase.		Q5T2N2	Frame_Shift_Del	DEL	ENST00000379800.3	37	c.427delC	CCDS9363.1																																																																																				0.408	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		9	120						9	120	---	---	---	---
MIS18BP1	55320	broad.mit.edu	37	14	45711597	45711601	+	Frame_Shift_Del	DEL	AGTGG	AGTGG	-			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr14:45711597_45711601delAGTGG	ENST00000310806.4	-	4	1237_1241	c.779_783delCCACT	c.(778-783)accactfs	p.TT260fs	MIS18BP1_ENST00000492652.1_5'Flank	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	260					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTTTGGATTTAGTGGTTGCAACTAT	0.356																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(778-783)afs		MIS18 binding protein 1																																				SO:0001589	frameshift_variant	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45711597_45711601delAGTGG	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.779_783delCCACT	14.37:g.45711597_45711601delAGTGG	ENSP00000309790:p.Thr260fs						p.TT260fs	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			4	1237_1241	-			260					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Frame_Shift_Del	DEL	ENST00000310806.4	37	c.779_783delCCACT	CCDS9684.1																																																																																				0.356	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			11	89						11	89	---	---	---	---
