#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
OR5AK2	390181	broad.mit.edu	37	11	56756448	56756449	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr11:56756448_56756449GC>TT	ENST00000326855.2	+	1	102_103	c.60_61GC>TT	c.(58-63)caGCat>caTTat	p.20_21QH>HY		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q20H(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TTGGTGCCCAGCATGAGTTTTG	0.411																																						uc010rjp.2																			1	Substitution - Missense(1)	p.Q20H(2)|p.A19V(1)|p.Q20fs*17(1)	breast(1)	breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(58-63)cagcat>caTTat		Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.																																				SO:0001583	missense	390181				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56756448_56756449GC>TT	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"""GPCR / Class A : Olfactory receptors"""	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	Exception_encountered	11.37:g.56756448_56756449delinsTT	ENSP00000322784:p.Q20_H21delinsHY						p.20_21QH>HY	NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN			0	60_61	+			20					B2RNZ9	Missense_Mutation	DNP	ENST00000326855.2	37	c.60_61GC>TT	CCDS31538.1																																																																																				0.411	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		12	77	0	0	0	1	0	12	77				
CACNA1A	773	broad.mit.edu	37	19	13476148	13476148	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr19:13476148C>T	ENST00000360228.5	-	5	766	c.767G>A	c.(766-768)tGc>tAc	p.C256Y	CACNA1A_ENST00000573710.2_Missense_Mutation_p.C256Y	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	256			C -> R (in EA2; dbSNP:rs121908231). {ECO:0000269|PubMed:15173248}.		adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCTTCAAAGCAGGTGGTATG	0.453																																						uc010xne.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(766-768)tGc>tAc		Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 2, mRNA.	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						99.0	100.0	100.0					19																	13476148		1882	4105	5987	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13476148C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.767G>A	19.37:g.13476148C>T	ENSP00000353362:p.Cys256Tyr					CACNA1A_uc010xnd.2_Missense_Mutation_p.C256Y|CACNA1A_uc021ups.1_Missense_Mutation_p.C256Y|CACNA1A_uc002mwy.3_Missense_Mutation_p.C256Y|CACNA1A_uc010dze.2_Missense_Mutation_p.C256Y|CACNA1A_uc021upt.1_Missense_Mutation_p.C256Y	p.C256Y	NM_023035	NP_075461	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		4	1003	-			256		C -> R (in EA2; dbSNP:rs121908231).			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.767G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476644	0.63737	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98762	-5.12	5.55	5.55	0.83447	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99588	0.9851	H	0.99074	4.42	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.97617	1.0133	10	0.87932	D	0	.	18.2896	0.90124	0.0:1.0:0.0:0.0	.	256;256	O00555;Q9NS88	CAC1A_HUMAN;.	Y	256	ENSP00000353362:C256Y	ENSP00000317661:C256Y	C	-	2	0	CACNA1A	13337148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.585000	0.82584	2.603000	0.88011	0.655000	0.94253	TGC		0.453	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		19	75	0	0	0	1	0	19	75				
COL3A1	1281	broad.mit.edu	37	2	189866147	189866147	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr2:189866147C>T	ENST00000304636.3	+	33	2478	c.2308C>T	c.(2308-2310)Cct>Tct	p.P770S	COL3A1_ENST00000317840.5_Missense_Mutation_p.P770S	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	770	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TATTGGTCCTCCTGGCCCAGC	0.373																																						uc002uqj.1																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(2308-2310)Cct>Tct		Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	Collagenase(DB00048)|Palifermin(DB00039)						69.0	76.0	74.0					2																	189866147		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189866147C>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2308C>T	2.37:g.189866147C>T	ENSP00000304408:p.Pro770Ser						p.P770S	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		32	2425	+			770			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.2308C>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620605	0.66787	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.95885	-3.84;-3.84	5.38	5.38	0.77491	.	0.000000	0.49305	D	0.000147	D	0.95095	0.8411	M	0.69248	2.105	0.53688	D	0.999979	P	0.49635	0.926	P	0.46362	0.514	D	0.94990	0.8133	10	0.54805	T	0.06	.	15.0318	0.71713	0.0:0.8582:0.1418:0.0	.	770	P02461	CO3A1_HUMAN	S	770	ENSP00000304408:P770S;ENSP00000315243:P770S	ENSP00000304408:P770S	P	+	1	0	COL3A1	189574392	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.776000	0.85560	2.694000	0.91930	0.557000	0.71058	CCT		0.373	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		5	52	0	0	0	1	0	5	52				
KIF2A	3796	broad.mit.edu	37	5	61643970	61643970	+	Silent	SNP	A	A	T			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr5:61643970A>T	ENST00000401507.3	+	3	566	c.255A>T	c.(253-255)tcA>tcT	p.S85S	KIF2A_ENST00000407818.3_Silent_p.S85S|KIF2A_ENST00000506857.1_Silent_p.S58S|KIF2A_ENST00000381103.2_Silent_p.S65S|KIF2A_ENST00000509663.2_Intron	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	85	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		CAGCATCCTCAGCCAAAGTAA	0.438																																						uc003jsz.4																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15						c.(253-255)tcA>tcT		Homo sapiens kinesin heavy chain member 2A (KIF2A), transcript variant 2, mRNA.							93.0	96.0	95.0					5																	61643970		2203	4300	6503	SO:0001819	synonymous_variant	3796				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding	g.chr5:61643970A>T	BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"""Kinesins"""	6318	protein-coding gene	gene with protein product		602591	"""kinesin heavy chain member 2"""	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.255A>T	5.37:g.61643970A>T						KIF2A_uc003jsx.4_Silent_p.S65S|KIF2A_uc010iwp.3_Silent_p.S85S|KIF2A_uc003jsy.4_Silent_p.S85S|KIF2A_uc010iwq.3_5'UTR	p.S85S	NM_001098511	NP_001091981	O00139	KIF2A_HUMAN		Lung(70;0.14)	2	566	+		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)	85			Globular (Potential).		A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Silent	SNP	ENST00000401507.3	37	c.255A>T	CCDS3980.2																																																																																				0.438	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317989.1	NM_004520		7	106	0	0	0	1	0	7	106				
SH2B3	10019	broad.mit.edu	37	12	111885971	111885971	+	Silent	SNP	G	G	T	rs143956445		TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr12:111885971G>T	ENST00000341259.2	+	8	1950	c.1593G>T	c.(1591-1593)tcG>tcT	p.S531S	SH2B3_ENST00000538307.1_Silent_p.S329S	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	531					blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic hemopoiesis (GO:0035162)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)	phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10					Pazopanib(DB06589)	TGGTGCCTTCGCCCGAAGAAC	0.637																																						uc001tsf.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						c.(1594-1596)tcG>tcT		Homo sapiens SH2B adaptor protein 3 (SH2B3), mRNA.							70.0	78.0	75.0					12																	111885971		2203	4300	6503	SO:0001819	synonymous_variant	10019				blood coagulation	cytosol	signal transducer activity	g.chr12:111885971G>T	AF055581	CCDS9153.1	12q24.12	2014-09-17				ENSG00000111252		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	29605	protein-coding gene	gene with protein product	"""lymphocyte adaptor protein"""	605093				10799879	Standard	NM_005475		Approved	LNK, IDDM20	uc001tse.3	Q9UQQ2		ENST00000341259.2:c.1593G>T	12.37:g.111885971G>T						SH2B3_uc001tse.3_Silent_p.S531S|SH2B3_uc010syf.2_Silent_p.S531S|SH2B3_uc010syg.2_Silent_p.S329S	p.S532S	NM_005475	NP_005466	Q9UQQ2	SH2B3_HUMAN			6	1623	+			531					B9EGG5|O95184	Silent	SNP	ENST00000341259.2	37	c.1596G>T	CCDS9153.1																																																																																				0.637	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404779.1	NM_005475		4	70	0	0	0	1	0	4	70				
TRIM46	80128	broad.mit.edu	37	1	155156425	155156425	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr1:155156425C>T	ENST00000334634.4	+	10	2039	c.2039C>T	c.(2038-2040)aCa>aTa	p.T680I	TRIM46_ENST00000392451.2_3'UTR|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368382.1_Missense_Mutation_p.T657I|MUC1_ENST00000462215.1_5'Flank|TRIM46_ENST00000545012.1_Missense_Mutation_p.T554I	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	680	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GATGGCCCCACAGCCGGCTGC	0.657																																						uc001fhs.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29						c.(2038-2040)aCa>aTa		Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.							70.0	70.0	70.0					1																	155156425		2203	4300	6503	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155156425C>T		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.2039C>T	1.37:g.155156425C>T	ENSP00000334657:p.Thr680Ile					TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Missense_Mutation_p.T554I|TRIM46_uc001fhu.1_Missense_Mutation_p.T657I|TRIM46_uc001fhw.1_Non-coding_Transcript|TRIM46_uc021pao.1_Non-coding_Transcript	p.T680I	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		9	2122	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		680			B30.2/SPRY.		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.2039C>T	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	C	6.068	0.380826	0.11466	.	.	ENSG00000163462	ENST00000430513;ENST00000545012;ENST00000368382;ENST00000334634	T;T;T	0.63096	-0.02;-0.02;-0.02	4.19	3.2	0.36748	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.451130	0.21216	N	0.078227	T	0.13756	0.0333	N	0.02539	-0.55	0.09310	N	1	B	0.30511	0.282	B	0.20955	0.032	T	0.11542	-1.0583	10	0.20046	T	0.44	.	10.5003	0.44802	0.0:0.8021:0.1979:0.0	.	680	Q7Z4K8	TRI46_HUMAN	I	638;554;657;680	ENSP00000440254:T554I;ENSP00000357366:T657I;ENSP00000334657:T680I	ENSP00000334657:T680I	T	+	2	0	TRIM46	153423049	0.002000	0.14202	0.008000	0.14137	0.088000	0.18126	-0.270000	0.08584	2.065000	0.61736	0.313000	0.20887	ACA		0.657	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		14	41	0	0	0	1	0	14	41				
FAM60A	58516	broad.mit.edu	37	12	31440669	31440669	+	Silent	SNP	A	A	C			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr12:31440669A>C	ENST00000337682.4	-	5	773	c.405T>G	c.(403-405)ccT>ccG	p.P135P	FAM60A_ENST00000542983.1_5'UTR|FAM60A_ENST00000539409.1_5'UTR|FAM60A_ENST00000395766.1_5'UTR|FAM60A_ENST00000454658.2_Silent_p.P135P	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	135					negative regulation of cell migration (GO:0030336)	Sin3 complex (GO:0016580)				large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					TACTGTAACAAGGAGATTGAG	0.378																																						uc001rkc.3																			0				large_intestine(1)|lung(2)	3						c.(478-480)ccT>ccG		Homo sapiens family with sequence similarity 60, member A (FAM60A), transcript variant 2, mRNA.							78.0	75.0	76.0					12																	31440669		2203	4300	6503	SO:0001819	synonymous_variant	58516							g.chr12:31440669A>C	AF212220	CCDS8723.1	12p11.21	2012-11-30	2005-04-07	2005-04-07	ENSG00000139146	ENSG00000139146			30702	protein-coding gene	gene with protein product		615027	"""chromosome 12 open reading frame 14"""	C12orf14		11042152, 22984288, 22865885	Standard	NM_021238		Approved	TERA	uc001rke.3	Q9NP50	OTTHUMG00000168586	ENST00000337682.4:c.405T>G	12.37:g.31440669A>C						FAM60A_uc010sjz.2_Silent_p.P135P|FAM60A_uc001rkd.3_Silent_p.P135P|FAM60A_uc010ska.2_Silent_p.P135P|FAM60A_uc001rke.3_Silent_p.P135P|FAM60A_uc010skb.2_Non-coding_Transcript	p.P160P	NM_021238	NP_067061	Q9NP50	FA60A_HUMAN			3	722	-	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)		135					D3DUV8|Q9BSZ8	Silent	SNP	ENST00000337682.4	37	c.480T>G	CCDS8723.1																																																																																				0.378	FAM60A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400347.1	NM_021238		6	37	0	0	0	1	0	6	37				
NMRK1	54981	broad.mit.edu	37	9	77692099	77692099	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr9:77692099T>C	ENST00000361092.4	-	4	381	c.145A>G	c.(145-147)Aaa>Gaa	p.K49E	NMRK1_ENST00000376811.1_Missense_Mutation_p.K53E|NMRK1_ENST00000376808.4_Missense_Mutation_p.K49E	NM_017881.2	NP_060351.1	Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1	49					NAD biosynthetic process (GO:0009435)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										AATCCATTTTTATCTGTCTCT	0.303																																						uc004ajs.4																			0											c.(157-159)Aaa>Gaa		Homo sapiens chromosome 9 open reading frame 95 (C9orf95), transcript variant 3, non-coding RNA.							118.0	126.0	123.0					9																	77692099		2201	4297	6498	SO:0001583	missense	54981				pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity	g.chr9:77692099T>C	AK097144	CCDS6650.1, CCDS47981.1	9q21.31	2012-03-30	2012-03-30	2012-03-30	ENSG00000106733	ENSG00000106733			26057	protein-coding gene	gene with protein product		608704	"""chromosome 9 open reading frame 95"""	C9orf95		15137942	Standard	NM_017881		Approved	FLJ20559, NRK1, bA235O14.2	uc004ajr.4	Q9NWW6	OTTHUMG00000020034	ENST00000361092.4:c.145A>G	9.37:g.77692099T>C	ENSP00000354387:p.Lys49Glu					NMRK1_uc004ajr.4_Missense_Mutation_p.K49E|NMRK1_uc004ajt.4_Missense_Mutation_p.K49E	p.K53E			Q9NWW6	NRK1_HUMAN			4	647	-			49					Q5W124|Q8N430	Missense_Mutation	SNP	ENST00000361092.4	37	c.157A>G	CCDS6650.1	.	.	.	.	.	.	.	.	.	.	T	5.210	0.224236	0.09863	.	.	ENSG00000106733	ENST00000376811;ENST00000376794;ENST00000361092;ENST00000376808	T;T;T	0.38887	1.11;1.11;1.11	6.06	-1.48	0.08745	.	0.712921	0.14239	N	0.332240	T	0.09992	0.0245	N	0.00403	-1.54	0.21553	N	0.999642	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.0	T	0.36720	-0.9736	10	0.02654	T	1	-2.4579	11.3098	0.49358	0.0:0.6247:0.0:0.3753	.	49;53;49	Q9NWW6-2;Q5W125;Q9NWW6	.;.;NRK1_HUMAN	E	53;53;49;49	ENSP00000366007:K53E;ENSP00000354387:K49E;ENSP00000366004:K49E	ENSP00000354387:K49E	K	-	1	0	C9orf95	76881919	1.000000	0.71417	0.756000	0.31282	0.995000	0.86356	0.943000	0.29030	-0.461000	0.06993	0.533000	0.62120	AAA		0.303	NMRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052705.1	NM_017881		6	112	0	0	0	1	0	6	112				
SLC38A7	55238	broad.mit.edu	37	16	58701385	58701385	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr16:58701385C>A	ENST00000570101.1	-	11	2176	c.1293G>T	c.(1291-1293)tgG>tgT	p.W431C	SLC38A7_ENST00000566953.1_5'UTR|SLC38A7_ENST00000564100.1_Missense_Mutation_p.G297V|SLC38A7_ENST00000219320.4_Missense_Mutation_p.W431C|SLC38A7_ENST00000564010.1_Missense_Mutation_p.W342C			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	431					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						TGACCAGCACCCACCAGCTGT	0.498																																						uc002eod.1																			0		p.W431*(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1291-1293)tgG>tgT		Homo sapiens solute carrier family 38, member 7 (SLC38A7), mRNA.							100.0	85.0	90.0					16																	58701385		2198	4300	6498	SO:0001583	missense	55238				amino acid transport|sodium ion transport	integral to membrane		g.chr16:58701385C>A	BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"""Solute carriers"""	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.1293G>T	16.37:g.58701385C>A	ENSP00000454646:p.Trp431Cys					SLC38A7_uc002eoc.1_Missense_Mutation_p.G297V|SLC38A7_uc010vil.1_Missense_Mutation_p.W342C	p.W431C	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN			11	1686	-			431					Q53GJ9|Q9H9I5	Missense_Mutation	SNP	ENST00000570101.1	37	c.1293G>T	CCDS10800.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047414	0.55110	.	.	ENSG00000103042	ENST00000219320	T	0.02258	4.37	5.98	5.98	0.97165	.	0.315734	0.39020	N	0.001485	T	0.05686	0.0149	N	0.17082	0.46	0.80722	D	1	D	0.69078	0.997	D	0.64237	0.923	T	0.62001	-0.6946	9	.	.	.	-10.2782	19.4443	0.94840	0.0:1.0:0.0:0.0	.	431	Q9NVC3	S38A7_HUMAN	C	431	ENSP00000219320:W431C	.	W	-	3	0	SLC38A7	57258886	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.366000	0.44204	2.847000	0.97988	0.591000	0.81541	TGG		0.498	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	NM_018231		10	39	0	0	0	1	0	10	39				
