#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
OR6N1	128372	broad.mit.edu	37	1	158735834	158735834	+	Silent	SNP	C	C	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr1:158735834C>A	ENST00000335094.2	-	1	658	c.639G>T	c.(637-639)ctG>ctT	p.L213L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AGCAGAGGATCAGCAGGAAGG	0.498																																						ENST00000335094.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(637-639)ctG>ctT		olfactory receptor, family 6, subfamily N, member 1							118.0	120.0	119.0					1																	158735834		2203	4300	6503	SO:0001819	synonymous_variant	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158735834C>A	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.639G>T	1.37:g.158735834C>A			Somatic					p.L213L	NM_001005185.1	NP_001005185.1	WXS	Illumina GAIIx	Phase_I	Q8NGY5	OR6N1_HUMAN			1	658	-	all_hematologic(112;0.0378)		213					Q5VUU8|Q96R35	Silent	SNP	ENST00000335094.2	37	c.639G>T	CCDS30905.1																																																																																				0.498	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		7	108	7	108	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201044699	201044699	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr1:201044699G>C	ENST00000362061.3	-	13	2098	c.1872C>G	c.(1870-1872)atC>atG	p.I624M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.I624M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	624					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGTAGGCCATGATCCCATTGT	0.547																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1870-1872)atC>atG		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						206.0	183.0	191.0					1																	201044699		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201044699G>C	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1872C>G	1.37:g.201044699G>C	ENSP00000355192:p.Ile624Met		Somatic				CACNA1S_ENST00000367338.3_Missense_Mutation_p.I624M	p.I624M	NM_000069.2	NP_000060.2	WXS	Illumina GAIIx	Phase_I	Q13698	CAC1S_HUMAN			13	2098	-			624					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.1872C>G	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.906689	0.52333	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98329	-4.87;-4.87	4.45	3.52	0.40303	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97455	0.9167	L	0.35793	1.09	0.40523	D	0.980858	D	0.76494	0.999	D	0.78314	0.991	D	0.96461	0.9341	10	0.66056	D	0.02	.	6.5916	0.22649	0.1526:0.0:0.6924:0.155	.	624	Q13698	CAC1S_HUMAN	M	624	ENSP00000355192:I624M;ENSP00000356307:I624M	ENSP00000355192:I624M	I	-	3	3	CACNA1S	199311322	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.003000	0.40844	2.194000	0.70268	0.643000	0.83706	ATC		0.547	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		18	61	18	61	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201046060	201046060	+	Silent	SNP	G	G	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr1:201046060G>A	ENST00000362061.3	-	12	2041	c.1815C>T	c.(1813-1815)atC>atT	p.I605I	CACNA1S_ENST00000367338.3_Silent_p.I605I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	605					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ggaagacgctgatgagggCTT	0.542																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1813-1815)atC>atT		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						180.0	154.0	163.0					1																	201046060		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201046060G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1815C>T	1.37:g.201046060G>A			Somatic				CACNA1S_ENST00000367338.3_Silent_p.I605I	p.I605I	NM_000069.2	NP_000060.2	WXS	Illumina GAIIx	Phase_I	Q13698	CAC1S_HUMAN			12	2041	-			605					A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.1815C>T	CCDS1407.1																																																																																				0.542	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		26	34	26	34	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201046222	201046222	+	Silent	SNP	G	G	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr1:201046222G>A	ENST00000362061.3	-	12	1879	c.1653C>T	c.(1651-1653)tcC>tcT	p.S551S	CACNA1S_ENST00000367338.3_Silent_p.S551S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	551					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGTTGAGCAGGGATGCCACCA	0.607																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1651-1653)tcC>tcT		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						105.0	97.0	99.0					1																	201046222		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201046222G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1653C>T	1.37:g.201046222G>A			Somatic				CACNA1S_ENST00000367338.3_Silent_p.S551S	p.S551S	NM_000069.2	NP_000060.2	WXS	Illumina GAIIx	Phase_I	Q13698	CAC1S_HUMAN			12	1879	-			551					A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.1653C>T	CCDS1407.1																																																																																				0.607	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		13	33	13	33	---	---	---	---
ABHD1	84696	broad.mit.edu	37	2	27351917	27351917	+	Missense_Mutation	SNP	T	T	G			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr2:27351917T>G	ENST00000316470.4	+	3	494	c.380T>G	c.(379-381)cTg>cGg	p.L127R		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	127						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTGTGCTGCTGCTTCCTGGC	0.567																																						ENST00000316470.4																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(379-381)cTg>cGg		abhydrolase domain containing 1							86.0	79.0	81.0					2																	27351917		2203	4300	6503	SO:0001583	missense	84696					integral to membrane	carboxylesterase activity	g.chr2:27351917T>G	AK093447	CCDS1736.1	2p23.3	2011-01-21			ENSG00000143994	ENSG00000143994		"""Abhydrolase domain containing"""	17553	protein-coding gene	gene with protein product		612195				11922611	Standard	NM_032604		Approved	LABH1, FLJ36128	uc002rit.3	Q96SE0	OTTHUMG00000097072	ENST00000316470.4:c.380T>G	2.37:g.27351917T>G	ENSP00000326491:p.Leu127Arg		Somatic					p.L127R	NM_032604.3	NP_115993	WXS	Illumina GAIIx	Phase_I	Q96SE0	ABHD1_HUMAN			3	494	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		127					B3KSF6|E9PDR9|Q05BY3|Q53SZ1|Q8IXQ7	Missense_Mutation	SNP	ENST00000316470.4	37	c.380T>G	CCDS1736.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.302013	0.81136	.	.	ENSG00000143994	ENST00000316470;ENST00000416071	T;T	0.75589	-0.95;-0.95	4.82	4.82	0.62117	.	0.206543	0.33235	N	0.005125	D	0.85881	0.5800	M	0.85859	2.78	0.38540	D	0.949194	D	0.76494	0.999	D	0.79108	0.992	D	0.88767	0.3261	10	0.87932	D	0	-5.7474	10.6989	0.45915	0.0:0.0:0.0:1.0	.	127	Q96SE0	ABHD1_HUMAN	R	127;64	ENSP00000326491:L127R;ENSP00000397522:L64R	ENSP00000326491:L127R	L	+	2	0	ABHD1	27205421	1.000000	0.71417	0.796000	0.32109	0.976000	0.68499	4.850000	0.62889	2.019000	0.59389	0.459000	0.35465	CTG		0.567	ABHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214188.1	NM_032604		11	28	11	28	---	---	---	---
NYAP2	57624	broad.mit.edu	37	2	226447087	226447087	+	Silent	SNP	G	G	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr2:226447087G>T	ENST00000272907.6	+	4	1367	c.954G>T	c.(952-954)ctG>ctT	p.L318L	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	318	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CCAAGGGGCTGCTTTGCGACA	0.632																																						ENST00000272907.6																			0											c.(952-954)ctG>ctT		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							51.0	54.0	53.0					2																	226447087		1995	4152	6147	SO:0001819	synonymous_variant	57624							g.chr2:226447087G>T	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.954G>T	2.37:g.226447087G>T			Somatic				NYAP2_ENST00000409269.2_Intron	p.L318L	NM_020864.1	NP_065915.1	WXS	Illumina GAIIx	Phase_I	Q9P242	K1486_HUMAN			4	1367	+			318			Pro-rich.		A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	37	c.954G>T	CCDS46529.1																																																																																				0.632	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		9	32	9	32	---	---	---	---
NT5DC2	64943	broad.mit.edu	37	3	52559262	52559262	+	Missense_Mutation	SNP	A	A	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr3:52559262A>T	ENST00000307076.4	-	11	1458	c.1058T>A	c.(1057-1059)gTg>gAg	p.V353E	NT5DC2_ENST00000459839.1_Missense_Mutation_p.V365E|NT5DC2_ENST00000422318.2_Missense_Mutation_p.V390E|NT5DC2_ENST00000307092.4_Missense_Mutation_p.V294E	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	353							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GAAGTAGAGCACGCGGGGGCC	0.652																																						ENST00000307076.4																			0				endometrium(1)|lung(3)|prostate(1)|stomach(1)	6						c.(1057-1059)gTg>gAg		5'-nucleotidase domain containing 2							48.0	44.0	45.0					3																	52559262		2200	4299	6499	SO:0001583	missense	64943						hydrolase activity|metal ion binding	g.chr3:52559262A>T	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.1058T>A	3.37:g.52559262A>T	ENSP00000302468:p.Val353Glu		Somatic				NT5DC2_ENST00000307092.4_Missense_Mutation_p.V294E|NT5DC2_ENST00000422318.2_Missense_Mutation_p.V390E|NT5DC2_ENST00000459839.1_Missense_Mutation_p.V365E	p.V353E	NM_022908.2	NP_075059.1	WXS	Illumina GAIIx	Phase_I	Q9H857	NT5D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	11	1458	-			353					C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Missense_Mutation	SNP	ENST00000307076.4	37	c.1058T>A	CCDS2858.1	.	.	.	.	.	.	.	.	.	.	A	33	5.276368	0.95459	.	.	ENSG00000168268	ENST00000307092;ENST00000463947;ENST00000307076;ENST00000422318;ENST00000459839	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	5.13	5.13	0.70059	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	M	0.93062	3.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.998	T	0.75150	-0.3419	10	0.87932	D	0	-34.195	14.9313	0.70916	1.0:0.0:0.0:0.0	.	365;353;390	C9JTZ6;Q9H857;E9PAL9	.;NT5D2_HUMAN;.	E	294;67;353;390;365	ENSP00000306017:V294E;ENSP00000418780:V67E;ENSP00000302468:V353E;ENSP00000406933:V390E;ENSP00000419547:V365E	ENSP00000302468:V353E	V	-	2	0	NT5DC2	52534302	1.000000	0.71417	0.989000	0.46669	0.980000	0.70556	9.306000	0.96204	1.933000	0.56026	0.402000	0.26972	GTG		0.652	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	NM_022908		4	28	4	28	---	---	---	---
IMPG2	50939	broad.mit.edu	37	3	101023020	101023020	+	Silent	SNP	T	T	C			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr3:101023020T>C	ENST00000193391.7	-	3	658	c.471A>G	c.(469-471)gaA>gaG	p.E157E		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	157					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GTTCCACAGATTCACTAAAAT	0.408																																						ENST00000193391.7																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(469-471)gaA>gaG		interphotoreceptor matrix proteoglycan 2							162.0	157.0	158.0					3																	101023020		2203	4300	6503	SO:0001819	synonymous_variant	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:101023020T>C	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.471A>G	3.37:g.101023020T>C			Somatic					p.E157E	NM_016247.3	NP_057331.2	WXS	Illumina GAIIx	Phase_I	Q9BZV3	IMPG2_HUMAN			3	658	-			157					A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	ENST00000193391.7	37	c.471A>G	CCDS2940.1																																																																																				0.408	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			15	76	15	76	---	---	---	---
FNDC3B	64778	broad.mit.edu	37	3	172096070	172096070	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr3:172096070A>G	ENST00000336824.4	+	24	3118	c.3019A>G	c.(3019-3021)Atc>Gtc	p.I1007V	FNDC3B_ENST00000416957.1_Missense_Mutation_p.I1007V|FNDC3B_ENST00000415807.2_Missense_Mutation_p.I1007V	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1007	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GTTTATTTCAATCTACAGAGG	0.453																																						ENST00000336824.4																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69						c.(3019-3021)Atc>Gtc		fibronectin type III domain containing 3B							72.0	68.0	69.0					3																	172096070		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172096070A>G	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.3019A>G	3.37:g.172096070A>G	ENSP00000338523:p.Ile1007Val		Somatic				FNDC3B_ENST00000415807.2_Missense_Mutation_p.I1007V|FNDC3B_ENST00000416957.1_Missense_Mutation_p.I1007V	p.I1007V	NM_001135095.1	NP_001128567.1	WXS	Illumina GAIIx	Phase_I	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	24	3118	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		1007			Fibronectin type-III 8.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.3019A>G	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.625844	0.46840	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.56611	0.45;0.45;0.45	5.36	5.36	0.76844	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.044860	0.85682	D	0.000000	T	0.37183	0.0994	N	0.25144	0.715	0.80722	D	1	B	0.16166	0.016	B	0.25291	0.059	T	0.22556	-1.0213	10	0.02654	T	1	-21.5281	15.3525	0.74399	1.0:0.0:0.0:0.0	.	1007	Q53EP0	FND3B_HUMAN	V	1007	ENSP00000411242:I1007V;ENSP00000338523:I1007V;ENSP00000389094:I1007V	ENSP00000338523:I1007V	I	+	1	0	FNDC3B	173578764	1.000000	0.71417	0.989000	0.46669	0.916000	0.54674	5.888000	0.69758	2.028000	0.59812	0.533000	0.62120	ATC		0.453	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		19	23	19	23	---	---	---	---
PEX5L	51555	broad.mit.edu	37	3	179605498	179605498	+	Silent	SNP	C	C	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr3:179605498C>T	ENST00000467460.1	-	4	603	c.273G>A	c.(271-273)tcG>tcA	p.S91S	PEX5L_ENST00000263962.8_Silent_p.S89S|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000392649.3_Silent_p.S48S|PEX5L_ENST00000476138.1_Silent_p.S48S|PEX5L_ENST00000485199.1_Silent_p.S56S|PEX5L_ENST00000472994.1_Silent_p.S32S|PEX5L_ENST00000464614.1_Silent_p.S48S|PEX5L_ENST00000465751.1_Silent_p.S67S	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	91					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CTATTGCTTCCGATTTGGTTT	0.413																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(271-273)tcG>tcA		peroxisomal biogenesis factor 5-like							221.0	220.0	220.0					3																	179605498		2203	4300	6503	SO:0001819	synonymous_variant	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179605498C>T	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.273G>A	3.37:g.179605498C>T			Somatic				PEX5L_ENST00000392649.3_Silent_p.S48S|PEX5L_ENST00000476138.1_Silent_p.S48S|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000485199.1_Silent_p.S56S|PEX5L_ENST00000263962.8_Silent_p.S89S|PEX5L_ENST00000472994.1_Silent_p.S32S|PEX5L_ENST00000464614.1_Silent_p.S48S|PEX5L_ENST00000465751.1_Silent_p.S67S|PEX5L_ENST00000467440.2_5'UTR	p.S91S	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	WXS	Illumina GAIIx	Phase_I	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		4	603	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		91					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Silent	SNP	ENST00000467460.1	37	c.273G>A	CCDS3236.1																																																																																				0.413	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		22	80	22	80	---	---	---	---
F11	2160	broad.mit.edu	37	4	187201491	187201491	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr4:187201491G>A	ENST00000403665.2	+	9	1332	c.980G>A	c.(979-981)tGc>tAc	p.C327Y	F11_ENST00000264692.4_Missense_Mutation_p.C275Y	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	327	Apple 4. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GCCGTCCGCTGCCAGTTTTTT	0.498																																						ENST00000264692.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32						c.(823-825)tGc>tAc		coagulation factor XI	Coagulation Factor IX(DB00100)						123.0	121.0	122.0					4																	187201491		2203	4300	6503	SO:0001583	missense	2160				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	g.chr4:187201491G>A	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"""plasma thromboplastin antecedent"""	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.980G>A	4.37:g.187201491G>A	ENSP00000384957:p.Cys327Tyr		Somatic				F11_ENST00000403665.2_Missense_Mutation_p.C327Y	p.C275Y			WXS	Illumina GAIIx	Phase_I	P03951	FA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	9	1157	+		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)	327			Apple 3.		D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	ENST00000403665.2	37	c.824G>A	CCDS3847.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.83|19.83	3.900828|3.900828	0.72754|0.72754	.|.	.|.	ENSG00000088926|ENSG00000088926	ENST00000452239|ENST00000403665;ENST00000264692	.|D;D	.|0.98512	.|-4.97;-4.97	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Apple domain (2);PAN-1 domain (1);Apple-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99184|0.99184	0.9717|0.9717	M|M	0.89968|0.89968	3.075|3.075	0.58432|0.58432	D|D	0.999991|0.999991	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.99368|0.99368	1.0919|1.0919	5|10	.|0.72032	.|D	.|0.01	.|.	19.9413|19.9413	0.97163|0.97163	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|327	.|P03951	.|FA11_HUMAN	T|Y	143|327;275	.|ENSP00000384957:C327Y;ENSP00000264692:C275Y	.|ENSP00000264692:C275Y	A|C	+|+	1|2	0|0	F11|F11	187438485|187438485	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.743000|0.743000	0.42351|0.42351	6.354000|6.354000	0.73036|0.73036	2.779000|2.779000	0.95612|0.95612	0.650000|0.650000	0.86243|0.86243	GCC|TGC		0.498	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4			12	101	12	101	---	---	---	---
SLC25A46	91137	broad.mit.edu	37	5	110097084	110097084	+	Silent	SNP	C	C	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr5:110097084C>T	ENST00000355943.3	+	8	985	c.859C>T	c.(859-861)Cta>Tta	p.L287L	SLC25A46_ENST00000509442.2_Silent_p.L196L|SLC25A46_ENST00000513807.1_Silent_p.L125L|SLC25A46_ENST00000509432.1_Silent_p.L74L|SLC25A46_ENST00000447245.2_Intron|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000504098.1_Silent_p.L141L	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	287					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		GAAGTTTGTCCTACTAATTCT	0.408																																						ENST00000355943.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(859-861)Cta>Tta		solute carrier family 25, member 46							147.0	147.0	147.0					5																	110097084		2202	4300	6502	SO:0001819	synonymous_variant	91137				transport	integral to membrane|mitochondrial inner membrane		g.chr5:110097084C>T	BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209		"""Solute carriers"""	25198	protein-coding gene	gene with protein product		610826				1651562, 1651563, 16949250	Standard	NM_138773		Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	ENST00000355943.3:c.859C>T	5.37:g.110097084C>T			Somatic				SLC25A46_ENST00000509432.1_Silent_p.L74L|SLC25A46_ENST00000509442.2_Silent_p.L196L|SLC25A46_ENST00000447245.2_Intron|SLC25A46_ENST00000513807.1_Silent_p.L125L|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000504098.1_Silent_p.L141L	p.L287L	NM_138773.1	NP_620128.1	WXS	Illumina GAIIx	Phase_I	Q96AG3	S2546_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)	8	985	+		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)	287					A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Silent	SNP	ENST00000355943.3	37	c.859C>T	CCDS4100.1																																																																																				0.408	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250721.5	NM_138773		14	78	14	78	---	---	---	---
PCDHB2	56133	broad.mit.edu	37	5	140475876	140475876	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr5:140475876C>T	ENST00000194155.4	+	1	1650	c.1502C>T	c.(1501-1503)cCc>cTc	p.P501L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	501	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCACCTGCCCCTCGCCTCC	0.692																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1501-1503)cCc>cTc									62.0	67.0	65.0					5																	140475876		2202	4296	6498	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475876C>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1502C>T	5.37:g.140475876C>T	ENSP00000194155:p.Pro501Leu		Somatic					p.P501L	NM_018936.2	NP_061759.1	WXS	Illumina GAIIx	Phase_I	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1650	+			501			Cadherin 5.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1502C>T	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257818	0.39896	.	.	ENSG00000112852	ENST00000194155	T	0.01665	4.7	4.5	2.59	0.31030	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03871	0.0109	L	0.52573	1.65	0.09310	N	1	P	0.47604	0.898	P	0.48770	0.589	T	0.36311	-0.9753	9	0.72032	D	0.01	.	10.6221	0.45487	0.1494:0.7066:0.144:0.0	.	501	Q9Y5E7	PCDB2_HUMAN	L	501	ENSP00000194155:P501L	ENSP00000194155:P501L	P	+	2	0	PCDHB2	140456060	0.000000	0.05858	0.001000	0.08648	0.877000	0.50540	0.025000	0.13577	0.389000	0.25086	0.556000	0.70494	CCC		0.692	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		8	122	8	122	---	---	---	---
ACTB	60	broad.mit.edu	37	7	5568828	5568828	+	Silent	SNP	G	G	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr7:5568828G>A	ENST00000331789.5	-	3	518	c.327C>T	c.(325-327)ccC>ccT	p.P109P	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	109					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TGGGGTTCAGGGGGGCCTCGG	0.647																																						ENST00000331789.5																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8						c.(325-327)ccC>ccT		actin, beta							48.0	53.0	51.0					7																	5568828		2203	4300	6503	SO:0001819	synonymous_variant	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5568828G>A	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.327C>T	7.37:g.5568828G>A			Somatic					p.P109P	NM_001101.3	NP_001092.1	WXS	Illumina GAIIx	Phase_I	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	3	518	-		Ovarian(82;0.0606)	109					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Silent	SNP	ENST00000331789.5	37	c.327C>T	CCDS5341.1																																																																																				0.647	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		10	38	10	38	---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11676141	11676141	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr7:11676141C>T	ENST00000423059.4	-	2	889	c.638G>A	c.(637-639)gGg>gAg	p.G213E	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	213	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTGCTGGAGCCCGCTGCCGCA	0.607										HNSCC(18;0.044)																												ENST00000423059.4																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(637-639)gGg>gAg		thrombospondin, type I, domain containing 7A							33.0	34.0	34.0					7																	11676141		1999	4168	6167	SO:0001583	missense	221981					integral to membrane		g.chr7:11676141C>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.638G>A	7.37:g.11676141C>T	ENSP00000406482:p.Gly213Glu	HNSCC(18;0.044)	Somatic					p.G213E	NM_015204.2	NP_056019.1	WXS	Illumina GAIIx	Phase_I	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	889	-						TSP type-1 2.			Missense_Mutation	SNP	ENST00000423059.4	37	c.638G>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157938	0.78114	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	D	0.83673	-1.75	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.94548	0.8244	H	0.96916	3.905	0.80722	D	1	D	0.63046	0.992	D	0.70227	0.968	D	0.95684	0.8734	10	0.87932	D	0	.	20.0333	0.97547	0.0:1.0:0.0:0.0	.	213	Q9UPZ6	THS7A_HUMAN	E	213	ENSP00000406482:G213E	ENSP00000262042:G213E	G	-	2	0	THSD7A	11642666	1.000000	0.71417	0.958000	0.39756	0.392000	0.30506	6.030000	0.70903	2.810000	0.96702	0.585000	0.79938	GGG		0.607	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		23	19	23	19	---	---	---	---
KRIT1	889	broad.mit.edu	37	7	91830634	91830634	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr7:91830634A>C	ENST00000340022.2	-	18	3147	c.2129T>G	c.(2128-2130)gTa>gGa	p.V710G	KRIT1_ENST00000394503.2_Missense_Mutation_p.V662G|AC000120.7_ENST00000414227.1_RNA|KRIT1_ENST00000412043.2_Missense_Mutation_p.V710G|Y_RNA_ENST00000363899.1_RNA|KRIT1_ENST00000394505.2_Missense_Mutation_p.V710G|MIR1285-1_ENST00000408593.1_RNA|KRIT1_ENST00000394507.1_Missense_Mutation_p.V710G	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	710	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)	p.V710E(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTTTGTATGTACTATAAAGCT	0.289																																						ENST00000394507.1																			1	Substitution - Missense(1)	p.V710E(1)	haematopoietic_and_lymphoid_tissue(1)	autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22						c.(2128-2130)gTa>gGa		KRIT1, ankyrin repeat containing							66.0	68.0	68.0					7																	91830634		2203	4294	6497	SO:0001583	missense	889				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91830634A>C	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.2129T>G	7.37:g.91830634A>C	ENSP00000344668:p.Val710Gly		Somatic				KRIT1_ENST00000412043.2_Missense_Mutation_p.V710G|KRIT1_ENST00000394505.2_Missense_Mutation_p.V710G|AC000120.7_ENST00000414227.1_RNA|KRIT1_ENST00000340022.2_Missense_Mutation_p.V710G|KRIT1_ENST00000394503.2_Missense_Mutation_p.V662G	p.V710G	NM_194456.1	NP_919438.1	WXS	Illumina GAIIx	Phase_I	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		19	2912	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		710			FERM.|Required for RAP1A binding.		A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	ENST00000340022.2	37	c.2129T>G	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	A	19.29	3.799161	0.70567	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503	T;T;T;T;T	0.75367	0.47;0.47;0.47;0.47;-0.93	5.74	4.59	0.56863	FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.82472	0.5044	L	0.59436	1.845	0.80722	D	1	D;D;D	0.71674	0.967;0.998;0.967	D;D;D	0.76071	0.95;0.987;0.95	T	0.83212	-0.0073	10	0.87932	D	0	0.0	11.5572	0.50755	0.9301:0.0:0.0699:0.0	.	710;662;710	A4D1F7;A6NNU0;O00522	.;.;KRIT1_HUMAN	G	710;710;710;710;662	ENSP00000378015:V710G;ENSP00000344668:V710G;ENSP00000410909:V710G;ENSP00000378013:V710G;ENSP00000378011:V662G	ENSP00000344668:V710G	V	-	2	0	KRIT1	91668570	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.774000	0.91767	1.004000	0.39156	-0.334000	0.08254	GTA		0.289	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			5	134	5	134	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151884803	151884803	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr7:151884803G>A	ENST00000262189.6	-	32	5008	c.4790C>T	c.(4789-4791)gCc>gTc	p.A1597V	KMT2C_ENST00000355193.2_Missense_Mutation_p.A1597V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1597					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CTTGTACCTGGCATCAGGATA	0.368																																						ENST00000355193.2																			0											c.(4789-4791)gCc>gTc		lysine (K)-specific methyltransferase 2C							94.0	91.0	92.0					7																	151884803		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151884803G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4790C>T	7.37:g.151884803G>A	ENSP00000262189:p.Ala1597Val		Somatic				KMT2C_ENST00000262189.6_Missense_Mutation_p.A1597V	p.A1597V			WXS	Illumina GAIIx	Phase_I					32	5008	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.4790C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103398	0.37145	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83335	-1.71;-1.71	5.56	3.66	0.41972	.	0.694548	0.11983	N	0.510547	T	0.65059	0.2655	N	0.08118	0	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.11329	0.001;0.006	T	0.53718	-0.8399	10	0.26408	T	0.33	.	6.487	0.22095	0.1666:0.1465:0.6869:0.0	.	1597;658	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	V	1597	ENSP00000262189:A1597V;ENSP00000347325:A1597V	ENSP00000262189:A1597V	A	-	2	0	MLL3	151515736	0.941000	0.31946	0.806000	0.32338	0.968000	0.65278	1.431000	0.34925	0.730000	0.32425	0.643000	0.83706	GCC		0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			4	73	4	73	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100789020	100789020	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr8:100789020G>C	ENST00000358544.2	+	41	7451	c.7340G>C	c.(7339-7341)gGt>gCt	p.G2447A	VPS13B_ENST00000357162.2_Missense_Mutation_p.G2422A|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2447					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGTGAGTCTGGTTCTCAAAGC	0.428																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(7339-7341)gGt>gCt		vacuolar protein sorting 13 homolog B (yeast)							163.0	140.0	148.0					8																	100789020		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100789020G>C	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7340G>C	8.37:g.100789020G>C	ENSP00000351346:p.Gly2447Ala		Somatic				VPS13B_ENST00000357162.2_Missense_Mutation_p.G2422A|VPS13B_ENST00000395996.1_3'UTR	p.G2447A	NM_017890.4	NP_060360.3	WXS	Illumina GAIIx	Phase_I	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		41	7451	+	Breast(36;3.73e-07)		2447					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.7340G>C	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168571	0.78339	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69175	-0.38;-0.38	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.79913	0.4528	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.984;0.997	T	0.80023	-0.1556	10	0.56958	D	0.05	.	19.4449	0.94843	0.0:0.0:1.0:0.0	.	2422;2447	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	A	2422;2447	ENSP00000349685:G2422A;ENSP00000351346:G2447A	ENSP00000349685:G2422A	G	+	2	0	VPS13B	100858196	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.852000	0.99516	2.583000	0.87209	0.650000	0.86243	GGT		0.428	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		39	45	39	45	---	---	---	---
YME1L1	10730	broad.mit.edu	37	10	27436406	27436406	+	Intron	SNP	T	T	C			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr10:27436406T>C	ENST00000326799.3	-	3	488				YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000376016.3_Intron|YME1L1_ENST00000477432.1_Silent_p.Q120Q	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase						cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						CAATAGGCATTTGGAGAAACC	0.463																																						ENST00000477432.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(358-360)caA>caG		YME1-like 1 ATPase							146.0	127.0	133.0					10																	27436406		2203	4300	6503	SO:0001627	intron_variant	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27436406T>C	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.339+20A>G	10.37:g.27436406T>C			Somatic				YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000326799.3_Intron|YME1L1_ENST00000376016.3_Intron	p.Q120Q			WXS	Illumina GAIIx	Phase_I	Q96TA2	YMEL1_HUMAN			3	1415	-			0					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Silent	SNP	ENST00000326799.3	37	c.360A>G	CCDS7152.1																																																																																				0.463	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		3	15	3	15	---	---	---	---
CPN1	1369	broad.mit.edu	37	10	101802208	101802208	+	Silent	SNP	C	C	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr10:101802208C>T	ENST00000370418.3	-	9	1604	c.1353G>A	c.(1351-1353)agG>agA	p.R451R		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	451					response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TCTGCAGCTGCCTCATCTCCA	0.532																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1351-1353)agG>agA		carboxypeptidase N, polypeptide 1							95.0	85.0	88.0					10																	101802208		2203	4300	6503	SO:0001819	synonymous_variant	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101802208C>T	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.1353G>A	10.37:g.101802208C>T			Somatic					p.R451R	NM_001308.2	NP_001299.1	WXS	Illumina GAIIx	Phase_I	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	9	1604	-		Colorectal(252;0.234)	451					B1AP59	Silent	SNP	ENST00000370418.3	37	c.1353G>A	CCDS7486.1																																																																																				0.532	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		9	55	9	55	---	---	---	---
GPR84	53831	broad.mit.edu	37	12	54756711	54756711	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr12:54756711C>A	ENST00000551809.1	-	1	1560	c.925G>T	c.(925-927)Gat>Tat	p.D309Y	GPR84_ENST00000267015.3_Missense_Mutation_p.D309Y|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GATGAAGAATCCGGAGCTCTT	0.498																																						ENST00000551809.1																			0				NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						c.(925-927)Gat>Tat		G protein-coupled receptor 84							128.0	131.0	130.0					12																	54756711		2203	4300	6503	SO:0001583	missense	53831					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:54756711C>A	AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.925G>T	12.37:g.54756711C>A	ENSP00000450310:p.Asp309Tyr		Somatic				RP11-753H16.5_ENST00000552785.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.D309Y|RP11-753H16.3_ENST00000550474.1_RNA	p.D309Y			WXS	Illumina GAIIx	Phase_I	Q9NQS5	GPR84_HUMAN			1	1560	-			309					B6V9G7	Missense_Mutation	SNP	ENST00000551809.1	37	c.925G>T	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623991	0.28889	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.38077	1.16;1.16	4.22	3.32	0.38043	GPCR, rhodopsin-like superfamily (1);	0.279835	0.26738	N	0.022746	T	0.45677	0.1354	L	0.47716	1.5	0.42683	D	0.993557	D	0.61697	0.99	P	0.62298	0.9	T	0.36359	-0.9751	10	0.49607	T	0.09	-11.6334	9.823	0.40894	0.0:0.8959:0.0:0.1041	.	309	Q9NQS5	GPR84_HUMAN	Y	309	ENSP00000267015:D309Y;ENSP00000450310:D309Y	ENSP00000267015:D309Y	D	-	1	0	GPR84	53042978	0.219000	0.23619	0.832000	0.32986	0.033000	0.12548	0.672000	0.25187	2.359000	0.80004	0.561000	0.74099	GAT		0.498	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1			19	94	19	94	---	---	---	---
COG3	83548	broad.mit.edu	37	13	46050413	46050413	+	Silent	SNP	A	A	G			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr13:46050413A>G	ENST00000349995.5	+	2	364	c.252A>G	c.(250-252)acA>acG	p.T84T		NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	84					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CTGAATCTACAGAAGACATTC	0.408																																					Ovarian(150;1048 1859 18083 21577 42700)	ENST00000349995.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24						c.(250-252)acA>acG		component of oligomeric golgi complex 3							103.0	98.0	100.0					13																	46050413		2203	4300	6503	SO:0001819	synonymous_variant	83548				ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity	g.chr13:46050413A>G	AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"""Components of oligomeric golgi complex"""	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.252A>G	13.37:g.46050413A>G			Somatic					p.T84T	NM_031431.3	NP_113619	WXS	Illumina GAIIx	Phase_I	Q96JB2	COG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)	2	364	+		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	84					B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Silent	SNP	ENST00000349995.5	37	c.252A>G	CCDS9398.1																																																																																				0.408	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2			3	32	3	32	---	---	---	---
BTBD1	53339	broad.mit.edu	37	15	83710528	83710528	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr15:83710528G>A	ENST00000261721.4	-	4	1016	c.814C>T	c.(814-816)Ctt>Ttt	p.L272F	RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.L272F|RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000560015.1_5'UTR|RP11-382A20.5_ENST00000566841.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	272					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		ATTAAGGAAAGTGCTTTTCCT	0.388																																						ENST00000261721.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10						c.(814-816)Ctt>Ttt		BTB (POZ) domain containing 1							117.0	118.0	117.0					15																	83710528		2203	4300	6503	SO:0001583	missense	53339					cytoplasmic mRNA processing body|protein complex	protein binding	g.chr15:83710528G>A	AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"""BTB/POZ domain containing"""	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.814C>T	15.37:g.83710528G>A	ENSP00000261721:p.Leu272Phe		Somatic				BTBD1_ENST00000379403.2_Missense_Mutation_p.L272F|BTBD1_ENST00000560015.1_5'UTR|RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA	p.L272F	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	WXS	Illumina GAIIx	Phase_I	Q9H0C5	BTBD1_HUMAN		all cancers(203;0.000186)	4	1016	-			272					A6NMI8|Q9BX71|Q9NWN4	Missense_Mutation	SNP	ENST00000261721.4	37	c.814C>T	CCDS10322.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971865	0.74246	.	.	ENSG00000064726	ENST00000261721;ENST00000379403	T;T	0.77489	-1.1;-1.1	5.62	5.62	0.85841	BTB/Kelch-associated (2);	0.061448	0.64402	D	0.000003	T	0.81341	0.4802	L	0.53561	1.675	0.80722	D	1	B;B	0.29481	0.179;0.245	B;B	0.41202	0.33;0.35	T	0.79502	-0.1777	10	0.56958	D	0.05	-21.3219	19.6517	0.95819	0.0:0.0:1.0:0.0	.	272;272	A6NMI8;Q9H0C5	.;BTBD1_HUMAN	F	272	ENSP00000261721:L272F;ENSP00000368713:L272F	ENSP00000261721:L272F	L	-	1	0	BTBD1	81501532	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.768000	0.85345	2.662000	0.90505	0.655000	0.94253	CTT		0.388	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304008.1			23	93	23	93	---	---	---	---
C16orf59	80178	broad.mit.edu	37	16	2512433	2512433	+	Silent	SNP	C	C	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr16:2512433C>T	ENST00000361837.4	+	7	833	c.768C>T	c.(766-768)ccC>ccT	p.P256P	RP11-715J22.2_ENST00000563775.1_RNA|C16orf59_ENST00000569496.1_Silent_p.P256P|C16orf59_ENST00000563531.1_Silent_p.P256P|RP11-715J22.4_ENST00000566085.1_lincRNA|C16orf59_ENST00000483320.1_Silent_p.P89P	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	256										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				GGCCCCAGCCCAGGCTCAGTG	0.682																																						ENST00000569496.1																			0				lung(1)|skin(1)|urinary_tract(1)	3						c.(766-768)ccC>ccT		chromosome 16 open reading frame 59							21.0	26.0	25.0					16																	2512433		1999	4132	6131	SO:0001819	synonymous_variant	80178							g.chr16:2512433C>T	AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.768C>T	16.37:g.2512433C>T			Somatic				C16orf59_ENST00000563531.1_Silent_p.P256P|C16orf59_ENST00000361837.4_Silent_p.P256P|C16orf59_ENST00000483320.1_Silent_p.P89P	p.P256P			WXS	Illumina GAIIx	Phase_I	Q7L2K0	CP059_HUMAN			7	827	+		Ovarian(90;0.17)	256					B4DXD7|Q96H61|Q9H872	Silent	SNP	ENST00000361837.4	37	c.768C>T	CCDS10468.2																																																																																				0.682	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	NM_025108		3	22	3	22	---	---	---	---
SF3B3	23450	broad.mit.edu	37	16	70569246	70569246	+	Missense_Mutation	SNP	A	A	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr16:70569246A>T	ENST00000302516.5	+	6	959	c.748A>T	c.(748-750)Atc>Ttc	p.I250F	SNORD111_ENST00000408139.1_RNA	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	250					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TGGAGTACTGATCTGCTCTGA	0.418																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(748-750)Atc>Ttc		splicing factor 3b, subunit 3, 130kDa							212.0	217.0	215.0					16																	70569246		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70569246A>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.748A>T	16.37:g.70569246A>T	ENSP00000305790:p.Ile250Phe		Somatic					p.I250F	NM_012426.4	NP_036558.3	WXS	Illumina GAIIx	Phase_I	Q15393	SF3B3_HUMAN			6	959	+		Ovarian(137;0.0694)	250					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.748A>T	CCDS10894.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.7|26.7	4.764754|4.764754	0.90020|0.90020	.|.	.|.	ENSG00000189091|ENSG00000189091	ENST00000310750|ENST00000302516	.|T	.|0.51817	.|0.69	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.60907	.|0.2305	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|P	.|0.40553	.|0.721	.|P	.|0.52267	.|0.694	.|T	.|0.65541	.|-0.6143	.|10	.|0.87932	.|D	.|0	.|.	14.4039|14.4039	0.67068|0.67068	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|250	.|Q15393	.|SF3B3_HUMAN	.|F	-1|250	.|ENSP00000305790:I250F	.|ENSP00000305790:I250F	.|I	+|+	.|1	.|0	SF3B3|SF3B3	69126747|69126747	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.339000|9.339000	0.96797|0.96797	1.813000|1.813000	0.52934|0.52934	0.397000|0.397000	0.26171|0.26171	.|ATC		0.418	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		6	190	6	190	---	---	---	---
PER1	5187	broad.mit.edu	37	17	8045265	8045265	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr17:8045265G>A	ENST00000317276.4	-	22	3695	c.3458C>T	c.(3457-3459)aCc>aTc	p.T1153I	PER1_ENST00000581082.1_Missense_Mutation_p.T1130I|PER1_ENST00000578089.1_5'Flank	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1153	CRY binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CAGCACAGAGGTCATGTCCCT	0.622			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"""AML, CMML"""		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3457-3459)aCc>aTc	Other conserved DNA damage response genes	period circadian clock 1							44.0	46.0	45.0					17																	8045265		2203	4300	6503	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8045265G>A	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3458C>T	17.37:g.8045265G>A	ENSP00000314420:p.Thr1153Ile		Somatic				PER1_ENST00000581082.1_Missense_Mutation_p.T1130I	p.T1153I	NM_002616.2	NP_002607.2	WXS	Illumina GAIIx	Phase_I	O15534	PER1_HUMAN			22	3695	-			1153			CRY binding domain (By similarity).		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.3458C>T	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274201	0.59649	.	.	ENSG00000179094	ENST00000317276	T	0.14022	2.54	5.67	4.64	0.57946	Period circadian-like, C-terminal (1);	0.241197	0.38663	N	0.001608	T	0.07773	0.0195	N	0.08118	0	0.80722	D	1	P;B	0.35226	0.491;0.111	B;B	0.34652	0.187;0.023	T	0.19128	-1.0315	10	0.87932	D	0	-14.5649	10.9962	0.47578	0.0:0.0:0.7034:0.2966	.	1144;1153	A2I2P6;O15534	.;PER1_HUMAN	I	1153	ENSP00000314420:T1153I	ENSP00000314420:T1153I	T	-	2	0	PER1	7985990	0.999000	0.42202	1.000000	0.80357	0.976000	0.68499	3.526000	0.53509	2.697000	0.92050	0.655000	0.94253	ACC		0.622	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			5	40	5	40	---	---	---	---
AKAP1	8165	broad.mit.edu	37	17	55197639	55197639	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr17:55197639A>G	ENST00000337714.3	+	11	2899	c.2666A>G	c.(2665-2667)gAg>gGg	p.E889G	AKAP1_ENST00000571629.1_Missense_Mutation_p.E889G|AKAP1_ENST00000572557.1_Missense_Mutation_p.E889G|AKAP1_ENST00000539273.1_Missense_Mutation_p.E889G	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	889					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TCCCTGGTGGAGCGAGGCCTT	0.512																																						ENST00000337714.3																			0				endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14						c.(2665-2667)gAg>gGg		A kinase (PRKA) anchor protein 1							160.0	133.0	142.0					17																	55197639		2203	4300	6503	SO:0001583	missense	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55197639A>G	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.2666A>G	17.37:g.55197639A>G	ENSP00000337736:p.Glu889Gly		Somatic				AKAP1_ENST00000572557.1_Missense_Mutation_p.E889G|AKAP1_ENST00000539273.1_Missense_Mutation_p.E889G|AKAP1_ENST00000571629.1_Missense_Mutation_p.E889G	p.E889G	NM_003488.3	NP_003479.1	WXS	Illumina GAIIx	Phase_I	Q92667	AKAP1_HUMAN			11	2899	+	Breast(9;5.46e-08)		889					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	37	c.2666A>G	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	A	16.13	3.035431	0.54896	.	.	ENSG00000121057	ENST00000337714;ENST00000427138;ENST00000539273	T;T	0.18502	2.21;2.21	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.33411	0.0862	L	0.41236	1.265	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.03103	-1.1072	10	0.72032	D	0.01	-30.4203	15.3314	0.74215	1.0:0.0:0.0:0.0	.	889	Q92667	AKAP1_HUMAN	G	889;931;889	ENSP00000337736:E889G;ENSP00000443139:E889G	ENSP00000337736:E889G	E	+	2	0	AKAP1	52552638	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.304000	0.89958	2.224000	0.72417	0.533000	0.62120	GAG		0.512	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			19	16	19	16	---	---	---	---
AFG3L2	10939	broad.mit.edu	37	18	12360038	12360038	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr18:12360038A>G	ENST00000269143.3	-	7	871	c.640T>C	c.(640-642)Ttt>Ctt	p.F214L		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	214					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CCAATATTAAACCAAACGTAT	0.353																																						ENST00000269143.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(640-642)Ttt>Ctt		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						80.0	74.0	76.0					18																	12360038		2203	4300	6503	SO:0001583	missense	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12360038A>G	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.640T>C	18.37:g.12360038A>G	ENSP00000269143:p.Phe214Leu		Somatic					p.F214L	NM_006796.2	NP_006787.2	WXS	Illumina GAIIx	Phase_I	Q9Y4W6	AFG32_HUMAN			7	871	-			214					Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	c.640T>C	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.935785	0.92458	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	T	0.77098	-1.07	4.87	4.87	0.63330	Peptidase M41, FtsH extracellular (1);Peptidase M41, FtsH (1);	0.000000	0.85682	D	0.000000	D	0.89722	0.6797	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91681	0.5358	10	0.62326	D	0.03	.	14.7671	0.69648	1.0:0.0:0.0:0.0	.	214	Q9Y4W6	AFG32_HUMAN	L	214;229	ENSP00000269143:F214L	ENSP00000269143:F214L	F	-	1	0	AFG3L2	12350038	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	1.949000	0.56562	0.533000	0.62120	TTT		0.353	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		10	39	10	39	---	---	---	---
NAGA	4668	broad.mit.edu	37	22	42461779	42461779	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr22:42461779G>A	ENST00000396398.3	-	6	1254	c.722C>T	c.(721-723)cCa>cTa	p.P241L	NAGA_ENST00000402937.1_Missense_Mutation_p.P241L|NAGA_ENST00000403363.1_Missense_Mutation_p.P241L	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	241					carbohydrate catabolic process (GO:0016052)|glycolipid catabolic process (GO:0019377)|glycoside catabolic process (GO:0016139)|glycosylceramide catabolic process (GO:0046477)|oligosaccharide metabolic process (GO:0009311)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|alpha-N-acetylgalactosaminidase activity (GO:0008456)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GCCGGCCACTGGCTGCAGTAT	0.597																																						ENST00000396398.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(721-723)cCa>cTa		N-acetylgalactosaminidase, alpha-							96.0	71.0	80.0					22																	42461779		2203	4300	6503	SO:0001583	missense	4668				glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity	g.chr22:42461779G>A		CCDS14030.1	22q13.2	2010-07-09			ENSG00000198951	ENSG00000198951	3.2.1.49		7631	protein-coding gene	gene with protein product		104170					Standard	NM_000262		Approved	D22S674	uc003bbw.4	P17050	OTTHUMG00000151276	ENST00000396398.3:c.722C>T	22.37:g.42461779G>A	ENSP00000379680:p.Pro241Leu		Somatic				NAGA_ENST00000402937.1_Missense_Mutation_p.P241L|NAGA_ENST00000403363.1_Missense_Mutation_p.P241L	p.P241L	NM_000262.2	NP_000253.1	WXS	Illumina GAIIx	Phase_I	P17050	NAGAB_HUMAN			6	1254	-			241						Missense_Mutation	SNP	ENST00000396398.3	37	c.722C>T	CCDS14030.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003431	0.74932	.	.	ENSG00000198951	ENST00000396398;ENST00000403363;ENST00000402937	D;D;D	0.82984	-1.67;-1.67;-1.67	5.09	5.09	0.68999	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.87285	0.6139	M	0.89534	3.04	0.80722	D	1	B	0.19817	0.039	B	0.22601	0.04	D	0.86160	0.1593	10	0.59425	D	0.04	-12.3572	18.5035	0.90890	0.0:0.0:1.0:0.0	.	241	P17050	NAGAB_HUMAN	L	241	ENSP00000379680:P241L;ENSP00000385283:P241L;ENSP00000384603:P241L	ENSP00000379680:P241L	P	-	2	0	NAGA	40791725	1.000000	0.71417	0.989000	0.46669	0.888000	0.51559	7.979000	0.88103	2.376000	0.81061	0.563000	0.77884	CCA		0.597	NAGA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322056.1			4	37	4	37	---	---	---	---
