#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
KIF25	3834	broad.mit.edu	37	6	168443303	168443303	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A4FR-01A-11D-A257-08	TCGA-EM-A4FR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cea715a5-b042-482e-9a2a-aa2781a086e2	b6b2661b-4529-47d8-84aa-cf750080d78b	g.chr6:168443303G>T	ENST00000443060.2	+	9	1283	c.892G>T	c.(892-894)Gcc>Tcc	p.A298S	KIF25_ENST00000354419.2_Missense_Mutation_p.A298S|KIF25_ENST00000351261.3_Intron			Q9UIL4	KIF25_HUMAN	kinesin family member 25	298	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CAGCCTTGCGGCCCTGGCAGG	0.662																																						uc003qwk.1																			0		p.A297A(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(892-894)Gcc>Tcc		Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.							104.0	100.0	102.0					6																	168443303		2203	4300	6503	SO:0001583	missense	3834				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168443303G>T	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.892G>T	6.37:g.168443303G>T	ENSP00000388878:p.Ala298Ser		Somatic				KIF25_uc003qwl.1_Intron	p.A298S	NM_030615	NP_085118	WXS	Illumina GAIIx	Phase_I	Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	7	1154	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	298					O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	c.892G>T	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174722	0.57692	.	.	ENSG00000125337	ENST00000443060;ENST00000354419	T;T	0.77358	-1.09;-1.09	4.13	4.13	0.48395	Kinesin, motor domain (3);	0.067083	0.64402	D	0.000013	T	0.75191	0.3816	L	0.59967	1.855	0.80722	D	1	D	0.52996	0.957	P	0.52881	0.712	T	0.77236	-0.2662	10	0.48119	T	0.1	-20.7057	13.6293	0.62186	0.0:0.0:1.0:0.0	.	298	Q9UIL4	KIF25_HUMAN	S	298	ENSP00000388878:A298S;ENSP00000346401:A298S	ENSP00000346401:A298S	A	+	1	0	KIF25	168186152	1.000000	0.71417	0.034000	0.17996	0.057000	0.15508	5.351000	0.66022	2.011000	0.59026	0.543000	0.68304	GCC		0.662	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			41	60	0	0	0	1	0	41	60				
CLSTN2	64084	broad.mit.edu	37	3	140140038	140140038	+	Missense_Mutation	SNP	G	G	A	rs375249688		TCGA-EM-A4FR-01A-11D-A257-08	TCGA-EM-A4FR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cea715a5-b042-482e-9a2a-aa2781a086e2	b6b2661b-4529-47d8-84aa-cf750080d78b	g.chr3:140140038G>A	ENST00000458420.3	+	5	899	c.709G>A	c.(709-711)Gac>Aac	p.D237N		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	237	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GACCGCCTACGACTGTGGACA	0.517										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(709-711)Gac>Aac		Homo sapiens calsyntenin 2 (CLSTN2), mRNA.		G	ASN/ASP	0,4406		0,0,2203	177.0	165.0	169.0		709	5.7	1.0	3		169	1,8599	1.2+/-3.3	0,1,4299	no	missense	CLSTN2	NM_022131.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	237/956	140140038	1,13005	2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140140038G>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.709G>A	3.37:g.140140038G>A	ENSP00000402460:p.Asp237Asn	HNSCC(16;0.037)	Somatic				CLSTN2_uc003etm.2_Missense_Mutation_p.D237N	p.D237N	NM_022131	NP_071414	WXS	Illumina GAIIx	Phase_I	Q9H4D0	CSTN2_HUMAN			4	899	+			237			Cadherin 2.		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.709G>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	34	5.364454	0.95877	0.0	1.16E-4	ENSG00000158258	ENST00000458420	T	0.79940	-1.32	5.7	5.7	0.88788	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.91310	0.7260	H	0.94886	3.595	0.80722	D	1	D	0.65815	0.995	P	0.57468	0.821	D	0.93408	0.6766	10	0.87932	D	0	-7.9719	17.3368	0.87283	0.0:0.0:1.0:0.0	.	237	Q9H4D0	CSTN2_HUMAN	N	237	ENSP00000402460:D237N	ENSP00000402460:D237N	D	+	1	0	CLSTN2	141622728	1.000000	0.71417	0.978000	0.43139	0.954000	0.61252	9.075000	0.94004	2.679000	0.91253	0.655000	0.94253	GAC		0.517	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		11	157	0	0	0	1	0	11	157				
TMC7	79905	broad.mit.edu	37	16	19070964	19070964	+	Intron	SNP	C	C	T	rs531463899		TCGA-EM-A4FR-01A-11D-A257-08	TCGA-EM-A4FR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cea715a5-b042-482e-9a2a-aa2781a086e2	b6b2661b-4529-47d8-84aa-cf750080d78b	g.chr16:19070964C>T	ENST00000304381.5	+	15	2236				TMC7_ENST00000421369.3_Intron|TMC7_ENST00000569532.1_Missense_Mutation_p.R752C|RP11-626G11.5_ENST00000571934.1_RNA	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7						ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GGCCCAGCCGCGTCCAGCTTC	0.517													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19847	0.0		0.0	False		,,,				2504	0.0					uc002dfp.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(2254-2256)Cgt>Tgt		Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.																																				SO:0001627	intron_variant	79905					integral to membrane		g.chr16:19070964C>T	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.2106+148C>T	16.37:g.19070964C>T			Somatic				TMC7_uc002dfq.3_Intron|TMC7_uc010vap.2_Intron	p.R752C	NM_024847	NP_079123	WXS	Illumina GAIIx	Phase_I	Q7Z402	TMC7_HUMAN			14	2384	+			0					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	c.2254C>T	CCDS10573.1																																																																																				0.517	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		6	10	0	0	0	1	0	6	10				
CACNA1B	774	broad.mit.edu	37	9	141016186	141016186	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FR-01A-11D-A257-08	TCGA-EM-A4FR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cea715a5-b042-482e-9a2a-aa2781a086e2	b6b2661b-4529-47d8-84aa-cf750080d78b	g.chr9:141016186C>T	ENST00000371372.1	+	47	6900	c.6755C>T	c.(6754-6756)tCt>tTt	p.S2252F	CACNA1B_ENST00000371363.1_Missense_Mutation_p.S2250F|CACNA1B_ENST00000371355.4_Missense_Mutation_p.S2253F|CACNA1B_ENST00000277551.2_Missense_Mutation_p.L2190F|CACNA1B_ENST00000371357.1_Missense_Mutation_p.S2251F|CACNA1B_ENST00000277549.5_Missense_Mutation_p.S1446F	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2252					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GCCCCTGGCTCTCGAATTGGC	0.662																																						uc004cog.3																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(6748-6750)tCt>tTt		Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	Amlodipine(DB00381)|Gabapentin(DB00996)						33.0	39.0	37.0					9																	141016186		1985	4160	6145	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141016186C>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6755C>T	9.37:g.141016186C>T	ENSP00000360423:p.Ser2252Phe		Somatic				CACNA1B_uc022bqn.1_Missense_Mutation_p.L2188F|CACNA1B_uc004coi.3_Missense_Mutation_p.S1464F	p.S2250F	NM_000718	NP_000709	WXS	Illumina GAIIx	Phase_I	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	45	6894	+	all_cancers(76;0.166)		2252					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.6749C>T	CCDS59522.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.63|17.63	3.437351|3.437351	0.62955|0.62955	.|.	.|.	ENSG00000148408|ENSG00000148408	ENST00000277551|ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D|D;D;D;D;D	0.96587|0.97016	-4.06|-3.99;-4.21;-3.99;-3.97;-3.97	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	.|0.906908	.|0.09427	.|N	.|0.803553	D|D	0.97062|0.97062	0.9040|0.9040	L|L	0.40543|0.40543	1.245|1.245	0.51767|0.51767	D|D	0.999938|0.999938	.|D;D	.|0.71674	.|0.995;0.998	.|P;P	.|0.62089	.|0.798;0.898	D|D	0.95097|0.95097	0.8227|0.8227	6|10	.|0.54805	.|T	.|0.06	.|.	18.5267|18.5267	0.90975|0.90975	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2251;2250	.|B1AQK7;B1AQK6	.|.;.	F|F	2190|2252;1446;2250;2251;2253	ENSP00000277551:L2190F|ENSP00000360423:S2252F;ENSP00000277549:S1446F;ENSP00000360414:S2250F;ENSP00000360408:S2251F;ENSP00000360406:S2253F	.|ENSP00000277549:S1446F	L|S	+|+	1|2	0|0	CACNA1B|CACNA1B	140136007|140136007	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.068000|0.068000	0.16541|0.16541	5.387000|5.387000	0.66243|0.66243	2.381000|2.381000	0.81170|0.81170	0.555000|0.555000	0.69702|0.69702	CTC|TCT		0.662	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		17	25	0	0	0	1	0	17	25				
SNRNP48	154007	broad.mit.edu	37	6	7601664	7601664	+	Missense_Mutation	SNP	G	G	C	rs141422613		TCGA-EM-A4FR-01A-11D-A257-08	TCGA-EM-A4FR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cea715a5-b042-482e-9a2a-aa2781a086e2	b6b2661b-4529-47d8-84aa-cf750080d78b	g.chr6:7601664G>C	ENST00000342415.5	+	5	561	c.502G>C	c.(502-504)Gta>Cta	p.V168L		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	168					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CTATGATTTCGTAGTTGAGGA	0.378																																						uc003mxr.3																			0				kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(502-504)Gta>Cta		Homo sapiens small nuclear ribonucleoprotein 48kDa (U11/U12) (SNRNP48), mRNA.							103.0	100.0	101.0					6																	7601664		2203	4300	6503	SO:0001583	missense	154007				mRNA processing	U12-type spliceosomal complex|cytoplasm	metal ion binding	g.chr6:7601664G>C	AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"""U11/U12 snRNP 48K"""		"""chromosome 6 open reading frame 151"""	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.502G>C	6.37:g.7601664G>C	ENSP00000339834:p.Val168Leu		Somatic				SNRNP48_uc003mxs.3_Non-coding_Transcript	p.V168L	NM_152551	NP_689764	WXS	Illumina GAIIx	Phase_I	Q6IEG0	SNR48_HUMAN			4	561	+			168					A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Missense_Mutation	SNP	ENST00000342415.5	37	c.502G>C	CCDS4502.1	.	.	.	.	.	.	.	.	.	.	G	31	5.083486	0.94050	.	.	ENSG00000168566	ENST00000342415	T	0.39787	1.06	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.53769	0.1817	L	0.50333	1.59	0.53688	D	0.999979	D	0.69078	0.997	D	0.76575	0.988	T	0.53194	-0.8473	10	0.72032	D	0.01	-15.1815	17.8657	0.88794	0.0:0.0:1.0:0.0	.	168	Q6IEG0	SNR48_HUMAN	L	168	ENSP00000339834:V168L	ENSP00000339834:V168L	V	+	1	0	SNRNP48	7546663	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	6.457000	0.73505	2.826000	0.97356	0.491000	0.48974	GTA		0.378	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039787.3	NM_152551		34	60	0	0	0	1	0	34	60				
