#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DNAH2	146754	broad.mit.edu	37	17	7690227	7690227	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:7690227A>T	ENST00000572933.1	+	42	7939	c.6479A>T	c.(6478-6480)gAc>gTc	p.D2160V	DNAH2_ENST00000389173.2_Missense_Mutation_p.D2160V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2160	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D2160V(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAGAAACCCGACGAGAAGTGG	0.567																																						ENST00000572933.1																			1	Substitution - Missense(1)	p.D2160V(1)	prostate(1)	NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(6478-6480)gAc>gTc		dynein, axonemal, heavy chain 2							82.0	58.0	66.0					17																	7690227		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7690227A>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6479A>T	17.37:g.7690227A>T	ENSP00000458355:p.Asp2160Val					DNAH2_ENST00000389173.2_Missense_Mutation_p.D2160V	p.D2160V			Q9P225	DYH2_HUMAN			42	7939	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2160			AAA 2 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.6479A>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.407497	0.83340	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	D	0.87887	-2.31	5.05	5.05	0.67936	ATPase, dynein-related, AAA domain (1);	0.184903	0.45361	D	0.000368	D	0.91005	0.7171	L	0.60957	1.885	0.80722	D	1	D	0.63880	0.993	D	0.63597	0.916	D	0.91853	0.5493	10	0.72032	D	0.01	.	13.9099	0.63860	1.0:0.0:0.0:0.0	.	2160	Q9P225	DYH2_HUMAN	V	2160	ENSP00000373825:D2160V	ENSP00000353818:D2160V	D	+	2	0	DNAH2	7630952	1.000000	0.71417	0.955000	0.39395	0.806000	0.45545	8.376000	0.90138	2.114000	0.64651	0.467000	0.42956	GAC		0.567	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		11	45	0	0	0	0.105934	0	11	45				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	69	0	0	0	0.014758	0	3	69				
ZFHX4	79776	broad.mit.edu	37	8	77690474	77690474	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr8:77690474C>T	ENST00000521891.2	+	4	3572	c.3124C>T	c.(3124-3126)Ccc>Tcc	p.P1042S	ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1016S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1016S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1016S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1016					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.P1042S(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGCAGTGAATCCCGAATCCTG	0.483										HNSCC(33;0.089)																												ENST00000521891.2																			2	Substitution - Missense(2)	p.P1042S(2)	prostate(2)	NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(3124-3126)Ccc>Tcc		zinc finger homeobox 4							127.0	126.0	126.0					8																	77690474		2005	4162	6167	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77690474C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3124C>T	8.37:g.77690474C>T	ENSP00000430497:p.Pro1042Ser	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1016S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1016S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1016S|ZFHX4_ENST00000517683.1_3'UTR	p.P1042S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		4	3572	+			1016					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.3124C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	5.379	0.255137	0.10185	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.22	2.34	0.29019	.	0.322259	0.22228	N	0.062847	T	0.16642	0.0400	N	0.10916	0.065	0.32614	N	0.524203	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.33163	-0.9879	10	0.02654	T	1	.	5.6426	0.17572	0.0:0.6205:0.1396:0.2399	.	1016;1016;1042	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	S	1042;1042;1016;1016;1016	ENSP00000430497:P1042S;ENSP00000399605:P1016S;ENSP00000050961:P1016S;ENSP00000430848:P1016S	ENSP00000050961:P1016S	P	+	1	0	ZFHX4	77853029	0.996000	0.38824	0.955000	0.39395	0.957000	0.61999	1.011000	0.29911	0.394000	0.25230	0.650000	0.86243	CCC		0.483	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		25	99	0	0	0	0.091800	0	25	99				
CFHR5	81494	broad.mit.edu	37	1	196952162	196952162	+	Missense_Mutation	SNP	G	G	A	rs375843181		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:196952162G>A	ENST00000256785.4	+	2	315	c.206G>A	c.(205-207)cGc>cAc	p.R69H	CFHR5_ENST00000367414.5_Missense_Mutation_p.R93H			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	69	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.R69H(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TTTTGGACTCGCATAACATGC	0.393																																						ENST00000367414.5																			1	Substitution - Missense(1)	p.R69H(1)	prostate(1)	NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(277-279)cGc>cAc		complement factor H-related 5		G	HIS/ARG	1,4405		0,1,2202	117.0	105.0	109.0		206	-4.1	0.0	1		109	0,8600		0,0,4300	no	missense	CFHR5	NM_030787.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	69/570	196952162	1,13005	2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196952162G>A	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.206G>A	1.37:g.196952162G>A	ENSP00000256785:p.Arg69His					CFHR5_ENST00000256785.4_Missense_Mutation_p.R69H	p.R93H	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			2	334	+			69			Sushi 2.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.278G>A	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	.	11.96	1.794607	0.31777	2.27E-4	0.0	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.64803	-0.12;-0.12	2.45	-4.13	0.03904	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.45296	0.1335	L	0.46157	1.445	0.09310	N	1	B	0.25521	0.128	B	0.20955	0.032	T	0.24728	-1.0152	9	0.31617	T	0.26	.	4.0223	0.09672	0.3876:0.3452:0.2672:0.0	.	69	Q9BXR6	FHR5_HUMAN	H	93;69	ENSP00000356384:R93H;ENSP00000256785:R69H	ENSP00000256785:R69H	R	+	2	0	CFHR5	195218785	0.000000	0.05858	0.002000	0.10522	0.603000	0.37013	-2.581000	0.00906	-1.048000	0.03238	0.305000	0.20034	CGC		0.393	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		10	57	0	0	0	0.058154	0	10	57				
MYH4	4622	broad.mit.edu	37	17	10355525	10355525	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:10355525G>A	ENST00000255381.2	-	27	3581	c.3471C>T	c.(3469-3471)gcC>gcT	p.A1157A	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1157					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.A1157A(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGCCCCACCGGCTTCTTCCA	0.607																																						ENST00000255381.2																			1	Substitution - coding silent(1)	p.A1157A(1)	prostate(1)	NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(3469-3471)gcC>gcT		myosin, heavy chain 4, skeletal muscle							80.0	89.0	86.0					17																	10355525		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10355525G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3471C>T	17.37:g.10355525G>A						CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.A1157A	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			27	3581	-			1157						Silent	SNP	ENST00000255381.2	37	c.3471C>T	CCDS11154.1																																																																																				0.607	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		34	125	0	0	0	0.064281	0	34	125				
TLL1	7092	broad.mit.edu	37	4	166935656	166935656	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr4:166935656G>A	ENST00000061240.2	+	8	1633	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	TLL1_ENST00000513213.1_Missense_Mutation_p.R329Q|TLL1_ENST00000507499.1_Missense_Mutation_p.R329Q	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	329	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R329Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATTGGTCAGCGAACCCGTCTA	0.458																																						ENST00000061240.2																			1	Substitution - Missense(1)	p.R329Q(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(985-987)cGa>cAa		tolloid-like 1							247.0	221.0	230.0					4																	166935656		2203	4299	6502	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166935656G>A	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.986G>A	4.37:g.166935656G>A	ENSP00000061240:p.Arg329Gln					TLL1_ENST00000513213.1_Missense_Mutation_p.R329Q|TLL1_ENST00000507499.1_Missense_Mutation_p.R329Q	p.R329Q	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	8	1633	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	329			Metalloprotease (By similarity).		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.986G>A	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571383	0.65765	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.68025	-0.3;-0.3;-0.3	5.17	4.33	0.51752	Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	U	0.000001	T	0.81564	0.4849	H	0.95260	3.645	0.80722	D	1	D;D	0.71674	0.998;0.978	P;B	0.51550	0.673;0.393	D	0.86520	0.1815	10	0.56958	D	0.05	.	13.729	0.62776	0.0751:0.0:0.9249:0.0	.	329;329	E9PD25;O43897	.;TLL1_HUMAN	Q	329	ENSP00000061240:R329Q;ENSP00000426082:R329Q;ENSP00000422937:R329Q	ENSP00000061240:R329Q	R	+	2	0	TLL1	167155106	1.000000	0.71417	0.787000	0.31911	0.044000	0.14063	9.753000	0.98904	1.165000	0.42670	0.557000	0.71058	CGA		0.458	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			11	247	0	0	0	0.069234	0	11	247				
SV2A	9900	broad.mit.edu	37	1	149885276	149885276	+	Silent	SNP	G	G	A	rs368036992		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:149885276G>A	ENST00000369146.3	-	2	607	c.117C>T	c.(115-117)gaC>gaT	p.D39D	SV2A_ENST00000369145.1_Silent_p.D39D	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	39	Interaction with SYT1. {ECO:0000250}.				cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.D39D(2)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GGGAATATTCGTCCTGGACTC	0.542																																						ENST00000369146.3																			2	Substitution - coding silent(2)	p.D39D(2)	prostate(2)	breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(115-117)gaC>gaT		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)	G		1,4405	2.1+/-5.4	0,1,2202	140.0	124.0	130.0		117	-10.4	0.4	1		130	0,8600		0,0,4300	no	coding-synonymous	SV2A	NM_014849.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		39/743	149885276	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149885276G>A	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.117C>T	1.37:g.149885276G>A						SV2A_ENST00000369145.1_Silent_p.D39D	p.D39D	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	607	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		39			Interaction with SYT1 (By similarity).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	ENST00000369146.3	37	c.117C>T	CCDS940.1																																																																																				0.542	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			19	94	0	0	0	0.043863	0	19	94				
APPL2	55198	broad.mit.edu	37	12	105571030	105571030	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr12:105571030G>A	ENST00000258530.3	-	18	1870	c.1645C>T	c.(1645-1647)Cca>Tca	p.P549S	APPL2_ENST00000546731.1_5'Flank|APPL2_ENST00000539978.2_Missense_Mutation_p.P506S|APPL2_ENST00000551662.1_Missense_Mutation_p.P555S	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.P549S(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGAGTCTGTGGATCTATCAAC	0.328																																						ENST00000258530.3																			1	Substitution - Missense(1)	p.P549S(1)	prostate(1)	breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(1645-1647)Cca>Tca		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2							157.0	145.0	149.0					12																	105571030		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105571030G>A	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1645C>T	12.37:g.105571030G>A	ENSP00000258530:p.Pro549Ser					APPL2_ENST00000551662.1_Missense_Mutation_p.P555S|APPL2_ENST00000539978.2_Missense_Mutation_p.P506S	p.P549S	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN			18	1870	-			549			PID.		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.1645C>T	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622571	0.87460	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662;ENST00000553109	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.32	5.32	0.75619	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.993	P;D;P	0.87578	0.82;0.998;0.835	T	0.54892	-0.8225	10	0.87932	D	0	-13.789	18.9808	0.92755	0.0:0.0:1.0:0.0	.	555;506;549	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	S	549;506;555;80	ENSP00000258530:P549S;ENSP00000444472:P506S;ENSP00000446917:P555S;ENSP00000446510:P80S	ENSP00000258530:P549S	P	-	1	0	APPL2	104095160	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.371000	0.66150	2.492000	0.84095	0.650000	0.86243	CCA		0.328	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		7	52	0	0	0	0.047766	0	7	52				
CSH2	1443	broad.mit.edu	37	17	61949662	61949662	+	Missense_Mutation	SNP	G	G	C	rs184890744	byFrequency	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:61949662G>C	ENST00000392886.2	-	5	629	c.478C>G	c.(478-480)Cgg>Ggg	p.R160G	CSH2_ENST00000560142.1_Missense_Mutation_p.R103G|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000345366.7_Missense_Mutation_p.R65G	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	160						extracellular region (GO:0005576)	metal ion binding (GO:0046872)	p.R160G(1)		endometrium(2)|large_intestine(1)|lung(3)	6						TGCCCAGTCCGGCGGCTGCCG	0.547																																						ENST00000392886.2																			1	Substitution - Missense(1)	p.R160G(1)	prostate(1)	endometrium(2)|large_intestine(1)|lung(3)	6						c.(478-480)Cgg>Ggg		chorionic somatomammotropin hormone 2							82.0	85.0	84.0					17																	61949662		2203	4297	6500	SO:0001583	missense	1443				female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61949662G>C	V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"""placental lactogen"", ""chorionic somatomammotropin B"""	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.478C>G	17.37:g.61949662G>C	ENSP00000376623:p.Arg160Gly					CSH2_ENST00000345366.7_Missense_Mutation_p.R65G|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Missense_Mutation_p.R103G	p.R160G	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN			5	629	-			160					P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	ENST00000392886.2	37	c.478C>G	CCDS42369.1	.	.	.	.	.	.	.	.	.	.	N	6.487	0.458034	0.12342	.	.	ENSG00000213218	ENST00000345366;ENST00000392886	D;D	0.89123	-2.47;-2.33	3.97	2.91	0.33838	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.044430	0.07596	N	0.922891	D	0.91962	0.7454	M	0.84948	2.725	0.34397	D	0.694826	B;B;P	0.43024	0.054;0.054;0.798	B;B;P	0.45881	0.022;0.022;0.496	D	0.91672	0.5351	10	0.59425	D	0.04	.	12.5718	0.56341	0.0:0.0:0.8218:0.1782	.	160;160;65	P01243;A8K6C2;B1A4H9	CSH_HUMAN;.;.	G	65;160	ENSP00000308396:R65G;ENSP00000376623:R160G	ENSP00000308396:R65G	R	-	1	2	CSH2	59303394	0.033000	0.19621	0.970000	0.41538	0.006000	0.05464	1.501000	0.35693	2.033000	0.60031	0.462000	0.41574	CGG		0.547	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1	NM_020991		28	124	0	0	0	0.041601	0	28	124				
IRX5	10265	broad.mit.edu	37	16	54966502	54966502	+	Silent	SNP	A	A	G			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr16:54966502A>G	ENST00000394636.4	+	2	679	c.342A>G	c.(340-342)ccA>ccG	p.P114P	IRX5_ENST00000320990.5_Silent_p.P114P|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Silent_p.P48P			P78411	IRX5_HUMAN	iroquois homeobox 5	114					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)	p.P114P(1)		kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						ACGGGGACCCAGCGTACCGGA	0.657																																						ENST00000394636.4																			1	Substitution - coding silent(1)	p.P114P(1)	prostate(1)	kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						c.(340-342)ccA>ccG		iroquois homeobox 5							102.0	86.0	92.0					16																	54966502		2198	4300	6498	SO:0001819	synonymous_variant	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54966502A>G	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.342A>G	16.37:g.54966502A>G						IRX5_ENST00000558597.1_Silent_p.P48P|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000320990.5_Silent_p.P114P	p.P114P			P78411	IRX5_HUMAN			2	679	+			114					H0YMS7|P78416|Q7Z2E1	Silent	SNP	ENST00000394636.4	37	c.342A>G	CCDS10751.1																																																																																				0.657	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			17	81	0	0	0	0.033300	0	17	81				
ZNF749	388567	broad.mit.edu	37	19	57956721	57956721	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:57956721A>C	ENST00000334181.4	+	3	2455	c.2205A>C	c.(2203-2205)aaA>aaC	p.K735N	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	735					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K735N(1)|p.K648N(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		ACTTCAACAAATGTAATACTG	0.398																																						ENST00000334181.4																			2	Substitution - Missense(2)	p.K735N(1)|p.K648N(1)	prostate(2)	breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(2203-2205)aaA>aaC		zinc finger protein 749							106.0	109.0	108.0					19																	57956721		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956721A>C	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.2205A>C	19.37:g.57956721A>C	ENSP00000333980:p.Lys735Asn					AC004076.9_ENST00000596831.1_Intron	p.K735N	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	2455	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	735						Missense_Mutation	SNP	ENST00000334181.4	37	c.2205A>C	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	a	5.243	0.230386	0.09969	.	.	ENSG00000186230	ENST00000334181	T	0.03468	3.92	0.838	-0.33	0.12683	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08268	0.0206	L	0.49513	1.565	0.09310	N	1	D	0.64830	0.994	P	0.62885	0.908	T	0.30357	-0.9981	9	0.33940	T	0.23	.	4.2342	0.10618	0.4356:0.0:0.5644:0.0	.	735	O43361	ZN749_HUMAN	N	735	ENSP00000333980:K735N	ENSP00000333980:K735N	K	+	3	2	ZNF749	62648533	0.000000	0.05858	0.001000	0.08648	0.397000	0.30659	0.668000	0.25127	-0.179000	0.10654	0.255000	0.18592	AAA		0.398	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		18	89	0	0	0	0.049695	0	18	89				
CCDC183	84960	broad.mit.edu	37	9	139701517	139701517	+	Splice_Site	SNP	C	C	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr9:139701517C>A	ENST00000338005.6	+	13	1520	c.1485C>A	c.(1483-1485)atC>atA	p.I495I	RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984-AS1_ENST00000414656.1_RNA|RABL6_ENST00000311502.7_5'Flank|RABL6_ENST00000371663.4_5'Flank|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000357466.2_5'Flank|RABL6_ENST00000371671.4_5'Flank	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		495								p.I495I(1)		biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		AGGATATGATCGGTACAGGCC	0.642																																						ENST00000338005.6																			1	Substitution - coding silent(1)	p.I495I(1)	prostate(1)	biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.e13+1		KIAA1984							33.0	38.0	36.0					9																	139701517		1947	4125	6072	SO:0001630	splice_region_variant	84960							g.chr9:139701517C>A																												ENST00000338005.6:c.1486+1C>A	9.37:g.139701517C>A						KIAA1984-AS1_ENST00000414656.1_RNA	p.I495_splice	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)	13	1520	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)	495					B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Splice_Site	SNP	ENST00000338005.6	37	c.1486_splice	CCDS43906.1																																																																																				0.642	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1		Silent	3	43	1	0	0.004672	0.004672	0.00535019	3	43				
SCN9A	6335	broad.mit.edu	37	2	167142945	167142945	+	Silent	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr2:167142945C>T	ENST00000409435.1	-	10	1502	c.1503G>A	c.(1501-1503)tcG>tcA	p.S501S	SCN9A_ENST00000409672.1_Silent_p.S501S|SCN9A_ENST00000375387.4_Silent_p.S502S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.S502S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	501				S -> P (in Ref. 4; AAT85835). {ECO:0000305}.	behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.S501S(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATTCTGATTTCGACAATTTCT	0.428																																						ENST00000303354.6																			1	Substitution - coding silent(1)	p.S501S(1)	prostate(1)	NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(1504-1506)tcG>tcA		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						170.0	161.0	164.0					2																	167142945		1910	4120	6030	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167142945C>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1503G>A	2.37:g.167142945C>T						SCN9A_ENST00000409435.1_Silent_p.S501S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.S501S|SCN9A_ENST00000375387.4_Silent_p.S502S	p.S502S			Q15858	SCN9A_HUMAN			11	1846	-			501					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.1506G>A	CCDS46441.1																																																																																				0.428	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		7	194	0	0	0	0.038147	0	7	194				
CSH2	1443	broad.mit.edu	37	17	61949663	61949663	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:61949663G>A	ENST00000392886.2	-	5	628	c.477C>T	c.(475-477)cgC>cgT	p.R159R	CSH2_ENST00000560142.1_Silent_p.R102R|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000345366.7_Silent_p.R64R	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	159						extracellular region (GO:0005576)	metal ion binding (GO:0046872)	p.R159R(1)		endometrium(2)|large_intestine(1)|lung(3)	6						GCCCAGTCCGGCGGCTGCCGT	0.547																																						ENST00000392886.2																			1	Substitution - coding silent(1)	p.R159R(1)	prostate(1)	endometrium(2)|large_intestine(1)|lung(3)	6						c.(475-477)cgC>cgT		chorionic somatomammotropin hormone 2							79.0	82.0	81.0					17																	61949663		2203	4297	6500	SO:0001819	synonymous_variant	1443				female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61949663G>A	V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"""placental lactogen"", ""chorionic somatomammotropin B"""	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.477C>T	17.37:g.61949663G>A						CSH2_ENST00000345366.7_Silent_p.R64R|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Silent_p.R102R	p.R159R	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN			5	628	-			159					P01243|Q0VDB1|Q14407	Silent	SNP	ENST00000392886.2	37	c.477C>T	CCDS42369.1																																																																																				0.547	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1	NM_020991		27	119	0	0	0	0.037714	0	27	119				
PACSIN2	11252	broad.mit.edu	37	22	43267420	43267420	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr22:43267420G>A	ENST00000263246.3	-	11	1605	c.1404C>T	c.(1402-1404)cgC>cgT	p.R468R	PACSIN2_ENST00000403744.3_Silent_p.R468R|PACSIN2_ENST00000337959.4_Silent_p.R427R|PACSIN2_ENST00000407585.1_Silent_p.R427R|PACSIN2_ENST00000402229.1_Silent_p.R468R	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	468	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)	p.R468R(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CGTTGTCCAAGCGTCCCTTGC	0.622																																						ENST00000263246.3																			1	Substitution - coding silent(1)	p.R468R(1)	prostate(1)	NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(1402-1404)cgC>cgT		protein kinase C and casein kinase substrate in neurons 2							112.0	128.0	123.0					22																	43267420		2162	4269	6431	SO:0001819	synonymous_variant	11252				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity	g.chr22:43267420G>A	AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"""syndapin II"""	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.1404C>T	22.37:g.43267420G>A						PACSIN2_ENST00000407585.1_Silent_p.R427R|PACSIN2_ENST00000496919.1_Intron|PACSIN2_ENST00000403744.3_Silent_p.R468R|PACSIN2_ENST00000337959.4_Silent_p.R427R|PACSIN2_ENST00000402229.1_Silent_p.R468R	p.R468R	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN			11	1605	-		Glioma(61;0.222)	468			SH3.		O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Silent	SNP	ENST00000263246.3	37	c.1404C>T	CCDS43023.1																																																																																				0.622	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319665.1	NM_007229		10	45	0	0	0	0.080935	0	10	45				
SIGLEC9	27180	broad.mit.edu	37	19	51630484	51630484	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:51630484G>C	ENST00000250360.3	+	4	1013	c.946G>C	c.(946-948)Gct>Cct	p.A316P	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.A316P	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	316	Ig-like C2-type 2.		A -> D (in dbSNP:rs273688).		cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.A316P(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GAGGGATGCAGCTGAATTCAC	0.632																																						ENST00000440804.3																			1	Substitution - Missense(1)	p.A316P(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45						c.(946-948)Gct>Cct		sialic acid binding Ig-like lectin 9							41.0	40.0	40.0					19																	51630484		2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51630484G>C	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.946G>C	19.37:g.51630484G>C	ENSP00000250360:p.Ala316Pro					SIGLEC9_ENST00000250360.3_Missense_Mutation_p.A316P	p.A316P	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	4	1013	+		all_neural(266;0.0529)	316		A -> D (in dbSNP:rs273688).	Ig-like C2-type 2.		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.946G>C	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	11.09	1.535351	0.27475	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.13089	2.62;2.62	2.3	2.3	0.28687	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.635768	0.12920	N	0.428257	T	0.10252	0.0251	L	0.29908	0.895	0.09310	N	1	B	0.25772	0.134	B	0.23574	0.047	T	0.23762	-1.0179	10	0.87932	D	0	.	7.7535	0.28911	0.0:0.0:1.0:0.0	.	316	Q9Y336	SIGL9_HUMAN	P	316	ENSP00000413861:A316P;ENSP00000250360:A316P	ENSP00000250360:A316P	A	+	1	0	SIGLEC9	56322296	0.029000	0.19370	0.002000	0.10522	0.002000	0.02628	2.226000	0.42963	1.127000	0.42034	0.407000	0.27541	GCT		0.632	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		8	45	0	0	0	0.069234	0	8	45				
FAM86C2P	645332	broad.mit.edu	37	11	67560630	67560630	+	RNA	SNP	A	A	G	rs550931172	byFrequency	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr11:67560630A>G	ENST00000528089.1	-	0	1120							A6NEL3	F86C2_HUMAN	family with sequence similarity 86, member C2, pseudogene																		GAGTGACTTGATTCTCACAAT	0.428													.|||	33	0.00658946	0.0182	0.0072	5008	,	,		19802	0.0		0.003	False		,,,				2504	0.001					ENST00000528089.1																			0																																																			0							g.chr11:67560630A>G			11q13.2	2011-07-07			ENSG00000160172	ENSG00000160172			42392	pseudogene	pseudogene							Standard	NR_024249		Approved		uc001omt.4	A6NEL3	OTTHUMG00000167222		11.37:g.67560630A>G														0	1120	-									RNA	SNP	ENST00000528089.1	37																																																																																						0.428	FAM86C2P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393796.1			4	80	0	0	0	0.080935	0	4	80				
DSG2	1829	broad.mit.edu	37	18	29099853	29099853	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr18:29099853G>A	ENST00000261590.8	+	3	378	c.169G>A	c.(169-171)Gct>Act	p.A57T	DSG2_ENST00000585206.1_Missense_Mutation_p.A57T	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	57	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A57T(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CGCCCCCGTGGCTCTTCGGGA	0.453																																						ENST00000261590.8																			1	Substitution - Missense(1)	p.A57T(1)	prostate(1)	breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(169-171)Gct>Act		desmoglein 2							69.0	71.0	70.0					18																	29099853		1885	4110	5995	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29099853G>A	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.169G>A	18.37:g.29099853G>A	ENSP00000261590:p.Ala57Thr					DSG2_ENST00000585206.1_Missense_Mutation_p.A57T	p.A57T	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		3	378	+			57			Cadherin 1.		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.169G>A	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784784	0.31593	.	.	ENSG00000046604	ENST00000261590	T	0.59083	0.29	5.21	-2.87	0.05700	Cadherin-like (1);	0.426837	0.16837	U	0.197512	T	0.21590	0.0520	N	0.03999	-0.3	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.30822	-0.9965	10	0.02654	T	1	.	4.6851	0.12754	0.3977:0.0:0.3116:0.2907	.	57	Q14126	DSG2_HUMAN	T	57	ENSP00000261590:A57T	ENSP00000261590:A57T	A	+	1	0	DSG2	27353851	0.020000	0.18652	0.061000	0.19648	0.929000	0.56500	-0.343000	0.07791	-0.225000	0.09913	0.561000	0.74099	GCT		0.453	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		15	70	0	0	0	0.043863	0	15	70				
LTBP3	4054	broad.mit.edu	37	11	65315007	65315007	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr11:65315007G>A	ENST00000301873.5	-	14	2278	c.2010C>T	c.(2008-2010)tgC>tgT	p.C670C	LTBP3_ENST00000536982.1_Silent_p.C296C|LTBP3_ENST00000322147.4_Silent_p.C670C|LTBP3_ENST00000530785.1_5'Flank|LTBP3_ENST00000532932.1_Silent_p.C100C|LTBP3_ENST00000529189.1_5'Flank	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	670	Cys-rich.|EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)	p.C670C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CGCCGTCGCCGCACAGGTGGG	0.657																																						ENST00000301873.5																			1	Substitution - coding silent(1)	p.C670C(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(2008-2010)tgC>tgT		latent transforming growth factor beta binding protein 3							58.0	66.0	63.0					11																	65315007		2201	4297	6498	SO:0001819	synonymous_variant	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65315007G>A	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.2010C>T	11.37:g.65315007G>A						LTBP3_ENST00000536982.1_Silent_p.C296C|LTBP3_ENST00000532932.1_Silent_p.C100C|LTBP3_ENST00000322147.4_Silent_p.C670C	p.C670C	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			14	2278	-			670			Cys-rich.|EGF-like 5; calcium-binding (Potential).		O15107|Q96HB9|Q9H7K2|Q9UFN4	Silent	SNP	ENST00000301873.5	37	c.2010C>T	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	G	5.642	0.303100	0.10678	.	.	ENSG00000168056	ENST00000526927	.	.	.	4.67	0.601	0.17529	.	.	.	.	.	T	0.53514	0.1801	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40136	-0.9579	4	.	.	.	.	6.6827	0.23129	0.4259:0.0:0.5741:0.0	.	.	.	.	W	321	.	.	R	-	1	2	LTBP3	65071583	0.970000	0.33590	0.993000	0.49108	0.412000	0.31113	0.912000	0.28597	-0.163000	0.10946	0.313000	0.20887	CGG		0.657	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		5	118	0	0	0	0.021553	0	5	118				
SORCS2	57537	broad.mit.edu	37	4	7728622	7728622	+	Missense_Mutation	SNP	G	G	A	rs370590557		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr4:7728622G>A	ENST00000507866.2	+	21	2970	c.2861G>A	c.(2860-2862)cGt>cAt	p.R954H	SORCS2_ENST00000329016.9_Missense_Mutation_p.R782H	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	954					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.R804H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						AGGGTCCTCCGTGTGCTGGGT	0.617																																						ENST00000507866.2																			1	Substitution - Missense(1)	p.R804H(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(2860-2862)cGt>cAt		sortilin-related VPS10 domain containing receptor 2		G	HIS/ARG	2,4232		0,2,2115	58.0	73.0	68.0		2861	2.5	1.0	4		68	1,8411		0,1,4205	no	missense	SORCS2	NM_020777.2	29	0,3,6320	AA,AG,GG		0.0119,0.0472,0.0237	benign	954/1160	7728622	3,12643	2117	4206	6323	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7728622G>A	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2861G>A	4.37:g.7728622G>A	ENSP00000422185:p.Arg954His					SORCS2_ENST00000329016.9_Missense_Mutation_p.R782H	p.R954H	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			21	2970	+			954					Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.2861G>A	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	G	2.316	-0.356773	0.05138	4.72E-4	1.19E-4	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.14516	2.5;2.52	4.25	2.51	0.30379	.	.	.	.	.	T	0.06005	0.0156	N	0.04508	-0.205	0.23602	N	0.997313	B;B	0.16603	0.006;0.018	B;B	0.06405	0.002;0.002	T	0.38134	-0.9675	9	0.36615	T	0.2	.	6.5334	0.22339	0.455:0.0:0.545:0.0	.	782;954	B5MED8;Q96PQ0	.;SORC2_HUMAN	H	954;782	ENSP00000422185:R954H;ENSP00000329124:R782H	ENSP00000329124:R782H	R	+	2	0	SORCS2	7779522	0.891000	0.30450	0.971000	0.41717	0.080000	0.17528	1.685000	0.37659	0.379000	0.24794	-0.396000	0.06452	CGT		0.617	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		4	47	0	0	0	0.009096	0	4	47				
CYP4F24P	388514	broad.mit.edu	37	19	15881921	15881921	+	lincRNA	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:15881921G>A	ENST00000595525.1	+	0	1122																		p.H152H(2)									CTGTGAAGTCGTGCACCAGGC	0.522																																						ENST00000587443.2																			2	Substitution - coding silent(2)	p.H152H(2)	prostate(2)																																																0							g.chr19:15881921G>A																													19.37:g.15881921G>A								NR_033864.1						0	976	-									RNA	SNP	ENST00000595525.1	37																																																																																						0.522	LLNLR-249E10.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000472008.1			10	49	0	0	0	0.080935	0	10	49				
PPP2R2B	5521	broad.mit.edu	37	5	146017843	146017843	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr5:146017843G>A	ENST00000394413.3	-	6	1331	c.761C>T	c.(760-762)gCa>gTa	p.A254V	PPP2R2B_ENST00000453001.1_Missense_Mutation_p.A254V|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.A254V|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.A257V|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.A243V|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.A254V|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.A312V|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.A260V|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.A320V|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.A243V			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	254					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.A257V(1)|p.A312V(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGGCAGATGCCCGCATGTC	0.597																																						ENST00000394413.3																			2	Substitution - Missense(2)	p.A257V(1)|p.A312V(1)	prostate(2)	endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(760-762)gCa>gTa		protein phosphatase 2, regulatory subunit B, beta							131.0	100.0	110.0					5																	146017843		2203	4300	6503	SO:0001583	missense	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146017843G>A	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.761C>T	5.37:g.146017843G>A	ENSP00000377935:p.Ala254Val					PPP2R2B_ENST00000504198.1_Missense_Mutation_p.A260V|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.A320V|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.A254V|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.A254V|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.A254V|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.A243V|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.A243V|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.A312V|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.A257V	p.A254V			Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1331	-			254					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	c.761C>T	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787867	0.49997	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.561745	0.19336	N	0.116787	T	0.36110	0.0955	L	0.58583	1.82	0.21147	N	0.99977	B;B;B;B;B;B	0.13594	0.006;0.008;0.003;0.006;0.008;0.001	B;B;B;B;B;B	0.13407	0.005;0.003;0.003;0.005;0.009;0.002	T	0.22661	-1.0210	10	0.52906	T	0.07	-4.0546	19.2061	0.93730	0.0:0.0:1.0:0.0	.	312;260;243;320;257;254	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	V	254;243;320;254;254;254;243;257;260;312	ENSP00000377935:A254V;ENSP00000431320:A243V;ENSP00000377936:A320V;ENSP00000377933:A254V;ENSP00000349283:A254V;ENSP00000398779:A254V;ENSP00000377932:A243V;ENSP00000336591:A257V;ENSP00000421396:A260V;ENSP00000377931:A312V	ENSP00000336591:A257V	A	-	2	0	AC011357.1	145998036	0.773000	0.28580	0.878000	0.34440	0.970000	0.65996	4.255000	0.58804	2.536000	0.85505	0.650000	0.86243	GCA		0.597	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		8	68	0	0	0	0.058154	0	8	68				
DNAH7	56171	broad.mit.edu	37	2	196825327	196825327	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr2:196825327G>A	ENST00000312428.6	-	18	2648	c.2548C>T	c.(2548-2550)Cgc>Tgc	p.R850C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	850	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.R850C(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGCCTGGGGCGCAAACCAGGA	0.453																																						ENST00000312428.6																			1	Substitution - Missense(1)	p.R850C(1)	prostate(1)	NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(2548-2550)Cgc>Tgc		dynein, axonemal, heavy chain 7							124.0	126.0	125.0					2																	196825327		1935	4131	6066	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196825327G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2548C>T	2.37:g.196825327G>A	ENSP00000311273:p.Arg850Cys						p.R850C	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			18	2648	-			850			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.2548C>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952760	0.53293	.	.	ENSG00000118997	ENST00000312428	T	0.63417	-0.04	5.74	5.74	0.90152	Dynein heavy chain, domain-2 (1);	0.125121	0.53938	D	0.000044	D	0.84392	0.5462	M	0.93375	3.41	0.80722	D	1	D	0.76494	0.999	D	0.64877	0.93	D	0.87323	0.2319	10	0.59425	D	0.04	.	19.9196	0.97082	0.0:0.0:1.0:0.0	.	850	Q8WXX0	DYH7_HUMAN	C	850	ENSP00000311273:R850C	ENSP00000311273:R850C	R	-	1	0	DNAH7	196533572	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.626000	0.61269	2.708000	0.92522	0.650000	0.86243	CGC		0.453	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		4	116	0	0	0	0.014758	0	4	116				
CA12	771	broad.mit.edu	37	15	63632619	63632619	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr15:63632619G>A	ENST00000178638.3	-	7	1055	c.615C>T	c.(613-615)ttC>ttT	p.F205F	CA12_ENST00000422263.2_Silent_p.F145F|CA12_ENST00000344366.3_Silent_p.F205F	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	205					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.F205F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	CTTCAATGTTGAATCCCGGGA	0.562																																						ENST00000178638.3																			1	Substitution - coding silent(1)	p.F205F(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16						c.(613-615)ttC>ttT		carbonic anhydrase XII	Acetazolamide(DB00819)						90.0	78.0	82.0					15																	63632619		2203	4300	6503	SO:0001819	synonymous_variant	771				one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding	g.chr15:63632619G>A	AF051882	CCDS10185.1, CCDS10186.1	15q22	2004-01-19			ENSG00000074410	ENSG00000074410		"""Carbonic anhydrases"""	1371	protein-coding gene	gene with protein product		603263				9636197	Standard	NM_001218		Approved	HsT18816	uc002amc.3	O43570	OTTHUMG00000132881	ENST00000178638.3:c.615C>T	15.37:g.63632619G>A						CA12_ENST00000422263.2_Silent_p.F145F|CA12_ENST00000344366.3_Silent_p.F205F	p.F205F	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN			7	1055	-			205					B2RE24|Q53YE5|Q9BWG2	Silent	SNP	ENST00000178638.3	37	c.615C>T	CCDS10185.1																																																																																				0.562	CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256370.1	NM_001218		5	58	0	0	0	0.021553	0	5	58				
DMD	1756	broad.mit.edu	37	X	32536160	32536160	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chrX:32536160C>T	ENST00000357033.4	-	18	2463	c.2257G>A	c.(2257-2259)Gaa>Aaa	p.E753K	DMD_ENST00000378677.2_Missense_Mutation_p.E749K|DMD_ENST00000288447.4_Missense_Mutation_p.E745K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	753					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.E749K(2)|p.E748K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAGTTGCCTTCCTTCCGAAAG	0.383																																						ENST00000357033.4																			3	Substitution - Missense(3)	p.E749K(2)|p.E748K(1)	prostate(3)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(2257-2259)Gaa>Aaa		dystrophin							73.0	65.0	67.0					X																	32536160		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32536160C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2257G>A	X.37:g.32536160C>T	ENSP00000354923:p.Glu753Lys					DMD_ENST00000378677.2_Missense_Mutation_p.E749K|DMD_ENST00000288447.4_Missense_Mutation_p.E745K	p.E753K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			18	2463	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	753					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.2257G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930968	0.73327	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.72505	0.71;0.71;-0.66	5.07	4.21	0.49690	.	0.251712	0.19274	U	0.118325	T	0.67804	0.2932	M	0.63428	1.95	0.80722	D	1	P;B;P;B	0.44380	0.457;0.011;0.834;0.013	B;B;B;B	0.41723	0.129;0.007;0.365;0.012	T	0.64807	-0.6320	10	0.33141	T	0.24	.	12.4582	0.55716	0.0:0.9151:0.0:0.0849	.	745;745;753;749	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	K	745;749;753;753;630;745	ENSP00000367948:E749K;ENSP00000354923:E753K;ENSP00000288447:E745K	ENSP00000288447:E745K	E	-	1	0	DMD	32446081	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	5.505000	0.66981	0.913000	0.36797	0.583000	0.79449	GAA		0.383	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		12	18	0	0	0	0.080935	0	12	18				
DOCK5	80005	broad.mit.edu	37	8	25166414	25166414	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr8:25166414G>A	ENST00000276440.7	+	12	1209	c.1165G>A	c.(1165-1167)Gca>Aca	p.A389T		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	389					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.A389T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGTGATTGCAGCAAAGGAAGT	0.522																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			1	Substitution - Missense(1)	p.A389T(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1165-1167)Gca>Aca		dedicator of cytokinesis 5							83.0	69.0	74.0					8																	25166414		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25166414G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1165G>A	8.37:g.25166414G>A	ENSP00000276440:p.Ala389Thr						p.A389T	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	12	1209	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	389					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.1165G>A	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.245|4.245	0.044511|0.044511	0.08196|0.08196	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	T|.	0.17213|.	2.29|.	6.11|6.11	2.08|2.08	0.27032|0.27032	.|.	0.294524|.	0.38217|.	N|.	0.001768|.	T|T	0.21347|0.21347	0.0514|0.0514	N|N	0.12569|0.12569	0.235|0.235	0.19945|0.19945	N|N	0.999948|0.999948	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.06405|.	0.002;0.001|.	T|T	0.24621|0.24621	-1.0155|-1.0155	10|5	0.14656|.	T|.	0.56|.	.|.	10.1302|10.1302	0.42674|0.42674	0.2868:0.0:0.7132:0.0|0.2868:0.0:0.7132:0.0	.|.	164;389|.	Q68DL4;Q9H7D0|.	.;DOCK5_HUMAN|.	T|N	389|160	ENSP00000276440:A389T|.	ENSP00000276440:A389T|.	A|S	+|+	1|2	0|0	DOCK5|DOCK5	25222331|25222331	0.972000|0.972000	0.33761|0.33761	0.067000|0.067000	0.19924|0.19924	0.712000|0.712000	0.41017|0.41017	2.181000|2.181000	0.42547|0.42547	0.377000|0.377000	0.24735|0.24735	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.522	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		3	41	0	0	0	0.009096	0	3	41				
EPHA3	2042	broad.mit.edu	37	3	89391103	89391103	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr3:89391103C>A	ENST00000336596.2	+	5	1394	c.1169C>A	c.(1168-1170)aCc>aAc	p.T390N	EPHA3_ENST00000494014.1_Missense_Mutation_p.T390N|EPHA3_ENST00000452448.2_Missense_Mutation_p.T390N	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	390	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.T390N(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTTGGACTCACCAACACCACG	0.478										TSP Lung(6;0.00050)																												ENST00000336596.2																			2	Substitution - Missense(2)	p.T390N(2)	prostate(2)	NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(1168-1170)aCc>aAc		EPH receptor A3							107.0	93.0	98.0					3																	89391103		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89391103C>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1169C>A	3.37:g.89391103C>A	ENSP00000337451:p.Thr390Asn	TSP Lung(6;0.00050)				EPHA3_ENST00000452448.2_Missense_Mutation_p.T390N|EPHA3_ENST00000494014.1_Missense_Mutation_p.T390N	p.T390N	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	5	1394	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	390			Fibronectin type-III 1.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.1169C>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054175	0.36277	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.60424	0.19;0.19;0.19	5.66	3.76	0.43208	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.457203	0.26658	N	0.023164	T	0.52693	0.1750	L	0.49571	1.57	0.40098	D	0.976334	B;B	0.18610	0.029;0.006	B;B	0.21917	0.037;0.017	T	0.51803	-0.8659	9	.	.	.	.	16.8533	0.86000	0.0:0.76:0.24:0.0	.	390;390	P29320;P29320-2	EPHA3_HUMAN;.	N	390	ENSP00000337451:T390N;ENSP00000399926:T390N;ENSP00000419190:T390N	.	T	+	2	0	EPHA3	89473793	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	1.342000	0.33919	1.518000	0.48934	0.655000	0.94253	ACC		0.478	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		4	71	1	0	0.00909568	0.009096	0.0102507	4	71				
SLC4A1	6521	broad.mit.edu	37	17	42333173	42333173	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:42333173G>A	ENST00000262418.6	-	14	1823	c.1668C>T	c.(1666-1668)aaC>aaT	p.N556N	AC003043.1_ENST00000597382.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	556	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.N556N(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCATCAACACGTTGTAGTTAT	0.532																																						ENST00000262418.6																			1	Substitution - coding silent(1)	p.N556N(1)	prostate(1)	central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.(1666-1668)aaC>aaT		solute carrier family 4 (anion exchanger), member 1							196.0	186.0	189.0					17																	42333173		2203	4300	6503	SO:0001819	synonymous_variant	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42333173G>A		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1668C>T	17.37:g.42333173G>A							p.N556N	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	14	1823	-		Breast(137;0.014)|Prostate(33;0.0181)	556			Membrane (anion exchange).		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	ENST00000262418.6	37	c.1668C>T	CCDS11481.1																																																																																				0.532	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		25	131	0	0	0	0.034045	0	25	131				
CLASP2	23122	broad.mit.edu	37	3	33602330	33602330	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr3:33602330G>C	ENST00000468888.2	-	28	2970	c.2924C>G	c.(2923-2925)gCa>gGa	p.A975G	CLASP2_ENST00000480013.1_Missense_Mutation_p.A754G|CLASP2_ENST00000359576.5_Missense_Mutation_p.A966G|CLASP2_ENST00000307312.7_Missense_Mutation_p.A456G|CLASP2_ENST00000461133.3_Missense_Mutation_p.A734G|CLASP2_ENST00000399362.4_Missense_Mutation_p.A974G|CLASP2_ENST00000539981.1_Missense_Mutation_p.A744G			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	755	Interaction with RSN and localization to the Golgi and kinetochores.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)	p.A967G(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CTGAACTTTTGCCTGAACAGA	0.338																																						ENST00000399362.4																			1	Substitution - Missense(1)	p.A967G(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(2920-2922)gCa>gGa		cytoplasmic linker associated protein 2							198.0	195.0	196.0					3																	33602330		1825	4097	5922	SO:0001583	missense	23122							g.chr3:33602330G>C	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2924C>G	3.37:g.33602330G>C	ENSP00000419974:p.Ala975Gly					CLASP2_ENST00000307312.7_Missense_Mutation_p.A456G|CLASP2_ENST00000468888.2_Missense_Mutation_p.A975G|CLASP2_ENST00000480013.1_Missense_Mutation_p.A754G|CLASP2_ENST00000539981.1_Missense_Mutation_p.A744G|CLASP2_ENST00000359576.5_Missense_Mutation_p.A966G|CLASP2_ENST00000461133.3_Missense_Mutation_p.A734G	p.A974G	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			28	3274	-			976					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.2921C>G		.	.	.	.	.	.	.	.	.	.	G	25.1	4.602670	0.87157	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133	T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.62	5.62	0.85841	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75199	0.3817	L	0.32530	0.975	0.80722	D	1	D;D;P	0.76494	0.999;0.998;0.803	D;D;P	0.80764	0.993;0.994;0.573	T	0.73014	-0.4116	10	0.37606	T	0.19	-22.908	19.6764	0.95936	0.0:0.0:1.0:0.0	.	755;966;974	O75122;F5H604;E7ERI8	CLAP2_HUMAN;.;.	G	975;974;966;456;744;754;734	ENSP00000419974:A975G;ENSP00000382297:A974G;ENSP00000352581:A966G;ENSP00000304743:A456G;ENSP00000439039:A744G;ENSP00000417518:A754G;ENSP00000419305:A734G	ENSP00000304743:A456G	A	-	2	0	CLASP2	33577334	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.496000	0.97967	2.660000	0.90430	0.655000	0.94253	GCA		0.338	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		31	177	0	0	0	0.054565	0	31	177				
ADAM29	11086	broad.mit.edu	37	4	175897858	175897858	+	Silent	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr4:175897858C>T	ENST00000359240.3	+	5	1852	c.1182C>T	c.(1180-1182)atC>atT	p.I394I	ADAM29_ENST00000445694.1_Silent_p.I394I|ADAM29_ENST00000514159.1_Silent_p.I394I|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Silent_p.I394I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	394					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I394I(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CAAAGGACATCTTTAATGTGA	0.393																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			2	Substitution - coding silent(2)	p.I394I(2)	prostate(2)	NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(1180-1182)atC>atT		ADAM metallopeptidase domain 29							214.0	209.0	211.0					4																	175897858		2203	4300	6503	SO:0001819	synonymous_variant	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897858C>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1182C>T	4.37:g.175897858C>T						ADAM29_ENST00000445694.1_Silent_p.I394I|ADAM29_ENST00000404450.4_Silent_p.I394I|ADAM29_ENST00000514159.1_Silent_p.I394I	p.I394I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1852	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	394					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	c.1182C>T	CCDS3823.1																																																																																				0.393	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				28	129	0	0	0	0.030593	0	28	129				
MLLT4	4301	broad.mit.edu	37	6	168297653	168297653	+	Splice_Site	SNP	G	G	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr6:168297653G>T	ENST00000447894.2	+	10	1317		c.e10+1		MLLT4_ENST00000344191.4_Splice_Site|MLLT4_ENST00000392108.3_Splice_Site|MLLT4_ENST00000366806.2_Splice_Site|MLLT4_ENST00000392112.1_Splice_Site|MLLT4_ENST00000351017.4_Splice_Site|MLLT4_ENST00000400822.3_Splice_Site			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.?(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTCTATCCAGGTACGTAGTCT	0.433			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		2	Unknown(2)	p.?(2)	prostate(2)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.e10+1		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							89.0	84.0	86.0					6																	168297653		2203	4300	6503	SO:0001630	splice_region_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168297653G>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.1317+1G>T	6.37:g.168297653G>T						MLLT4_ENST00000392112.1_Splice_Site|MLLT4_ENST00000400822.3_Splice_Site|MLLT4_ENST00000392108.3_Splice_Site|MLLT4_ENST00000344191.4_Splice_Site|MLLT4_ENST00000351017.4_Splice_Site|MLLT4_ENST00000447894.2_Splice_Site				P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	10	1459	+		Breast(66;1.07e-05)|Ovarian(120;0.024)						O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Splice_Site	SNP	ENST00000447894.2	37			.	.	.	.	.	.	.	.	.	.	G	19.93	3.917946	0.73098	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894;ENST00000423229	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8669	0.92296	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLLT4	168040502	1.000000	0.71417	0.995000	0.50966	0.691000	0.40173	9.467000	0.97671	2.447000	0.82792	0.591000	0.81541	.		0.433	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936	Intron	5	22	1	0	0.000602214	0.014758	0.00071262	5	22				
HERC2	8924	broad.mit.edu	37	15	28386775	28386775	+	Splice_Site	SNP	G	G	A	rs149707599	byFrequency	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr15:28386775G>A	ENST00000261609.7	-	78	11926	c.11818C>T	c.(11818-11820)Cga>Tga	p.R3940*		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.R3940*(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCATCTGGTCGCCTACAATAC	0.478																																						ENST00000261609.7																			2	Substitution - Nonsense(2)	p.R3940*(2)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.e78-1		HECT and RLD domain containing E3 ubiquitin protein ligase 2							110.0	107.0	108.0					15																	28386775		2203	4300	6503	SO:0001630	splice_region_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28386775G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11817-1C>T	15.37:g.28386775G>A							p.R3940_splice	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	78	11926	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3940						Splice_Site	SNP	ENST00000261609.7	37	c.11816_splice	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	52	19.589338	0.99921	.	.	ENSG00000128731	ENST00000261609	.	.	.	5.69	1.49	0.22878	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.458	0.38767	0.0645:0.0:0.5784:0.3571	.	.	.	.	X	3940	.	ENSP00000261609:R3940X	R	-	1	2	HERC2	26060370	0.989000	0.36119	0.927000	0.36925	0.295000	0.27426	0.877000	0.28106	0.022000	0.15160	0.556000	0.70494	CGA		0.478	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	Nonsense_Mutation	29	119	0	0	0	0.030593	0	29	119				
GALNTL5	168391	broad.mit.edu	37	7	151664547	151664547	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr7:151664547G>C	ENST00000392800.2	+	2	470	c.216G>C	c.(214-216)agG>agC	p.R72S	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R72S	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	72					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.R72S(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TAGTCAAAAGGACTGATGAAG	0.373																																						ENST00000392800.2																			1	Substitution - Missense(1)	p.R72S(1)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32						c.(214-216)agG>agC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5							79.0	83.0	82.0					7																	151664547		2203	4300	6503	SO:0001583	missense	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151664547G>C	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.216G>C	7.37:g.151664547G>C	ENSP00000376548:p.Arg72Ser					GALNTL5_ENST00000431418.2_Missense_Mutation_p.R72S	p.R72S	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	2	470	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	72					Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	c.216G>C	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	G	3.114	-0.182007	0.06340	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.58652	0.32;0.32	4.1	-8.2	0.01045	.	7745.180000	0.00166	N	0.000000	T	0.31979	0.0814	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19910	-1.0291	10	0.25106	T	0.35	.	2.4594	0.04538	0.1424:0.2518:0.1415:0.4643	.	72	Q7Z4T8	GLTL5_HUMAN	S	72	ENSP00000392582:R72S;ENSP00000376548:R72S	ENSP00000376548:R72S	R	+	3	2	GALNTL5	151295480	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.389000	0.02530	-2.868000	0.00324	-0.257000	0.10917	AGG		0.373	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		4	39	0	0	0	0.014758	0	4	39				
TMEM200A	114801	broad.mit.edu	37	6	130762197	130762197	+	Silent	SNP	C	C	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr6:130762197C>A	ENST00000296978.3	+	3	1501	c.630C>A	c.(628-630)atC>atA	p.I210I	TMEM200A_ENST00000545622.1_Silent_p.I210I|TMEM200A_ENST00000392429.1_Silent_p.I210I	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	210						integral component of membrane (GO:0016021)		p.I210I(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CAAATACGATCGCCTCTTTCT	0.468																																						ENST00000392429.1																			2	Substitution - coding silent(2)	p.I210I(2)	prostate(2)	NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(628-630)atC>atA		transmembrane protein 200A							71.0	68.0	69.0					6																	130762197		2203	4300	6503	SO:0001819	synonymous_variant	114801					integral to membrane		g.chr6:130762197C>A	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.630C>A	6.37:g.130762197C>A						TMEM200A_ENST00000545622.1_Silent_p.I210I|TMEM200A_ENST00000296978.3_Silent_p.I210I	p.I210I	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	2	3008	+			210					Q96PX5	Silent	SNP	ENST00000296978.3	37	c.630C>A	CCDS5140.1																																																																																				0.468	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		3	38	1	0	0.004672	0.004672	0.00535019	3	38				
PRKCG	5582	broad.mit.edu	37	19	54387493	54387493	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:54387493C>T	ENST00000263431.3	+	3	563	c.281C>T	c.(280-282)aCg>aTg	p.T94M	PRKCG_ENST00000542049.1_Silent_p.D18D|PRKCG_ENST00000536044.1_Missense_Mutation_p.T94M|PRKCG_ENST00000540413.1_Missense_Mutation_p.T94M	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	94					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	GGCCCCCAGACGGACGTGAGT	0.577																																						ENST00000263431.3																			0				large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(280-282)aCg>aTg		protein kinase C, gamma							73.0	68.0	69.0					19																	54387493		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54387493C>T	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.281C>T	19.37:g.54387493C>T	ENSP00000263431:p.Thr94Met					PRKCG_ENST00000542049.1_Silent_p.D18D|PRKCG_ENST00000540413.1_Missense_Mutation_p.T94M|PRKCG_ENST00000536044.1_Missense_Mutation_p.T94M	p.T94M	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	3	563	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		94					B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.281C>T	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660522	0.67586	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000419486	T;T;T	0.79141	-1.24;-0.57;-0.57	4.68	4.68	0.58851	.	.	.	.	.	D	0.84750	0.5541	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.61697	0.982;0.986;0.99;0.987	P;P;P;P	0.56514	0.707;0.8;0.608;0.772	D	0.87111	0.2185	9	0.72032	D	0.01	.	15.4645	0.75387	0.0:1.0:0.0:0.0	.	94;94;94;94	F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;KPCG_HUMAN	M	94;94;94;117	ENSP00000440541:T94M;ENSP00000443493:T94M;ENSP00000263431:T94M	ENSP00000263431:T94M	T	+	2	0	PRKCG	59079305	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.762000	0.74950	2.332000	0.79248	0.313000	0.20887	ACG		0.577	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		14	67	0	0	0	0.020292	0	14	67				
GAD2	2572	broad.mit.edu	37	10	26575384	26575384	+	Silent	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr10:26575384C>T	ENST00000376261.3	+	13	1850	c.1347C>T	c.(1345-1347)caC>caT	p.H449H	GAD2_ENST00000259271.3_Silent_p.H449H	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	449					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.H449H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCGGACGCCACGTTGATGTTT	0.443																																						ENST00000376261.3																			1	Substitution - coding silent(1)	p.H449H(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1345-1347)caC>caT		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						122.0	100.0	108.0					10																	26575384		2203	4300	6503	SO:0001819	synonymous_variant	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26575384C>T	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1347C>T	10.37:g.26575384C>T						GAD2_ENST00000259271.3_Silent_p.H449H	p.H449H	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			13	1850	+			449					Q9UD87	Silent	SNP	ENST00000376261.3	37	c.1347C>T	CCDS7149.1																																																																																				0.443	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		9	61	0	0	0	0.058154	0	9	61				
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	byFrequency	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - Missense(2)	p.Q78R(2)	lung(1)|endometrium(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(232-234)cAg>cGg		major histocompatibility complex, class I, A							54.0	57.0	56.0					6																	29910693		2203	4299	6502	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910693A>G	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.233A>G	6.37:g.29910693A>G	ENSP00000379873:p.Gln78Arg	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R	p.Q78R			P30443	1A01_HUMAN			4	574	+			78			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.233A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	9.798	1.179669	0.21787	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00784	5.7;5.7;5.7;5.7	3.72	-4.39	0.03611	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	1.398580	0.06189	N	0.681068	T	0.00815	0.0027	L	0.56280	1.765	0.09310	N	1	B;P;B;P;B	0.42483	0.0;0.781;0.0;0.781;0.0	B;D;B;D;B	0.71184	0.006;0.972;0.01;0.972;0.01	T	0.44952	-0.9294	10	0.87932	D	0	.	0.9552	0.01384	0.3504:0.1689:0.3159:0.1647	rs41559716	78;78;78;78;78	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	R	78	ENSP00000379873:Q78R;ENSP00000366002:Q78R;ENSP00000366005:Q78R;ENSP00000365998:Q78R	ENSP00000348012:Q78R	Q	+	2	0	HLA-A	30018672	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.990000	0.03732	-0.910000	0.03847	-0.450000	0.05554	CAG		0.657	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		4	26	0	0	0	0.014758	0	4	26				
SLC37A4	2542	broad.mit.edu	37	11	118900037	118900037	+	Missense_Mutation	SNP	A	A	C	rs528095472		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr11:118900037A>C	ENST00000545985.1	-	3	799	c.43T>G	c.(43-45)Tca>Gca	p.S15A	SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000538950.1_Intron|SLC37A4_ENST00000330775.7_Missense_Mutation_p.S15A|SLC37A4_ENST00000357590.5_Missense_Mutation_p.S15A	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	15					carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphate transmembrane transporter activity (GO:0015152)|transporter activity (GO:0005215)	p.S15A(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		AACATGGCTGAGAAGATCACA	0.517																																						ENST00000545985.1																			1	Substitution - Missense(1)	p.S15A(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6						c.(43-45)Tca>Gca		solute carrier family 37 (glucose-6-phosphate transporter), member 4							86.0	85.0	85.0					11																	118900037		2038	4186	6224	SO:0001583	missense	2542				glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity	g.chr11:118900037A>C	Y15409		11q23.3	2014-09-17	2007-03-28	2003-09-10		ENSG00000137700		"""Solute carriers"""	4061	protein-coding gene	gene with protein product		602671	"""glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1"""	G6PT1, G6PT2, G6PT3		9428641, 9463334	Standard	NM_001164277		Approved	GSD1b, GSD1c, GSD1d	uc010ryt.1	O43826		ENST00000545985.1:c.43T>G	11.37:g.118900037A>C	ENSP00000475241:p.Ser15Ala					SLC37A4_ENST00000357590.5_Missense_Mutation_p.S15A|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000538950.1_Intron|SLC37A4_ENST00000330775.7_Missense_Mutation_p.S15A	p.S15A	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)	3	799	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)	15					O96016|Q5J7V4|Q9UI19|Q9UNS4	Missense_Mutation	SNP	ENST00000545985.1	37	c.43T>G																																																																																					0.517	SLC37A4-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001467		4	24	0	0	0	0.014758	0	4	24				
MFN2	9927	broad.mit.edu	37	1	12058937	12058937	+	Splice_Site	SNP	T	T	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:12058937T>A	ENST00000235329.5	+	7	1030		c.e7+2		MFN2_ENST00000444836.1_Splice_Site	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2						apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)	p.?(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		ATGCAGACGGTAACTCCTCCT	0.577																																						ENST00000235329.5																			1	Unknown(1)	p.?(1)	prostate(1)	endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20						c.e7+2		mitofusin 2							202.0	171.0	181.0					1																	12058937		2203	4300	6503	SO:0001630	splice_region_variant	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12058937T>A	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.708+2T>A	1.37:g.12058937T>A						MFN2_ENST00000444836.1_Splice_Site		NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	7	1030	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)						A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Splice_Site	SNP	ENST00000235329.5	37		CCDS30587.1	.	.	.	.	.	.	.	.	.	.	T	13.32	2.201407	0.38905	.	.	ENSG00000116688	ENST00000444836;ENST00000235329	.	.	.	4.9	3.75	0.43078	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2221	0.43203	0.1486:0.0:0.0:0.8514	.	.	.	.	.	-1	.	.	.	+	.	.	MFN2	11981524	1.000000	0.71417	0.949000	0.38748	0.414000	0.31173	7.666000	0.83877	0.704000	0.31869	-0.336000	0.08194	.		0.577	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874	Intron	14	120	0	0	0	0.105934	0	14	120				
ARHGAP30	257106	broad.mit.edu	37	1	161022538	161022538	+	Silent	SNP	T	T	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:161022538T>C	ENST00000368013.3	-	7	1034	c.714A>G	c.(712-714)tcA>tcG	p.S238S	ARHGAP30_ENST00000368015.1_Silent_p.S61S|ARHGAP30_ENST00000368016.3_Silent_p.S238S	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	238					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)	p.S238S(2)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CGGGGCTGCCTGATGCCCGGG	0.607																																						ENST00000368013.3																			2	Substitution - coding silent(2)	p.S238S(2)	prostate(2)	breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(712-714)tcA>tcG		Rho GTPase activating protein 30							59.0	61.0	60.0					1																	161022538		2203	4300	6503	SO:0001819	synonymous_variant	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161022538T>C	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.714A>G	1.37:g.161022538T>C						ARHGAP30_ENST00000368015.1_Silent_p.S61S|ARHGAP30_ENST00000368016.3_Silent_p.S238S	p.S238S	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		7	1034	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		238					Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Silent	SNP	ENST00000368013.3	37	c.714A>G	CCDS30918.1																																																																																				0.607	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		3	63	0	0	0	0.004672	0	3	63				
HOXB3	3213	broad.mit.edu	37	17	46628435	46628435	+	Missense_Mutation	SNP	G	G	T	rs574439147	byFrequency	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:46628435G>T	ENST00000470495.1	-	2	2004	c.557C>A	c.(556-558)gCg>gAg	p.A186E	HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.A54E|HOXB3_ENST00000476342.1_Missense_Mutation_p.A186E|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.A186E|HOXB3_ENST00000472863.1_Missense_Mutation_p.A113E|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000311626.4_Missense_Mutation_p.A186E|HOXB3_ENST00000489475.1_Missense_Mutation_p.A113E|HOXB3_ENST00000490677.1_Missense_Mutation_p.A52E|HOXB3_ENST00000485909.2_Missense_Mutation_p.A54E|HOXB-AS1_ENST00000508688.1_RNA			P14651	HXB3_HUMAN	homeobox B3	186					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A186E(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CTTGGACGCCGCCGACCCCGG	0.751																																						ENST00000470495.1																			1	Substitution - Missense(1)	p.A186E(1)	prostate(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(556-558)gCg>gAg		homeobox B3							26.0	29.0	28.0					17																	46628435		2202	4298	6500	SO:0001583	missense	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46628435G>T		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.557C>A	17.37:g.46628435G>T	ENSP00000417207:p.Ala186Glu					HOXB3_ENST00000311626.4_Missense_Mutation_p.A186E|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.A52E|HOXB3_ENST00000498678.1_Missense_Mutation_p.A186E|HOXB3_ENST00000476342.1_Missense_Mutation_p.A186E|HOXB3_ENST00000472863.1_Missense_Mutation_p.A113E|HOXB3_ENST00000460160.1_Missense_Mutation_p.A54E|HOXB3_ENST00000489475.1_Missense_Mutation_p.A113E|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.A54E|HOXB-AS3_ENST00000465846.2_RNA	p.A186E			P14651	HXB3_HUMAN			2	2004	-			186					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation	SNP	ENST00000470495.1	37	c.557C>A	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174477	0.57692	.	.	ENSG00000120093	ENST00000470495;ENST00000472863;ENST00000311626;ENST00000498678;ENST00000490677;ENST00000460160;ENST00000485909;ENST00000489475;ENST00000476342	D;D;D;D;T;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-0.93;-1.55;-1.55;-2.04;-2.04	4.09	3.09	0.35607	Homeodomain-related (1);Homeobox (1);	0.199562	0.43260	D	0.000584	T	0.80237	0.4586	L	0.46819	1.47	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.76323	-0.3001	10	0.46703	T	0.11	.	13.3674	0.60692	0.0:0.0:0.8412:0.1588	.	186	P14651	HXB3_HUMAN	E	186;113;186;186;52;54;54;113;186	ENSP00000417207:A186E;ENSP00000419676:A113E;ENSP00000308252:A186E;ENSP00000420595:A186E;ENSP00000449977:A52E;ENSP00000418035:A54E;ENSP00000438747:A54E;ENSP00000418729:A113E;ENSP00000418892:A186E	ENSP00000308252:A186E	A	-	2	0	HOXB3	43983434	0.997000	0.39634	0.983000	0.44433	0.977000	0.68977	8.212000	0.89756	1.042000	0.40150	0.655000	0.94253	GCG		0.751	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			9	56	1	0	2.74318e-10	0.058154	3.41694e-10	9	56				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	64	0	0	0	0.009096	0	4	64				
ATXN7L3	56970	broad.mit.edu	37	17	42274671	42274671	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:42274671G>A	ENST00000454077.2	-	3	280	c.281C>T	c.(280-282)gCc>gTc	p.A94V	ATXN7L3_ENST00000389384.4_Missense_Mutation_p.A94V|CTB-175E5.7_ENST00000586560.1_RNA|ATXN7L3_ENST00000593073.1_Intron	NM_020218.1	NP_064603.1			ataxin 7-like 3											kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCGGGAGGCGGCAATGCTGCG	0.597																																						ENST00000389384.4																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						c.(280-282)gCc>gTc		ataxin 7-like 3							83.0	96.0	92.0					17																	42274671		2047	4190	6237	SO:0001583	missense	56970				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding	g.chr17:42274671G>A	AK056002	CCDS42345.1, CCDS45697.1	17q21	2010-03-10			ENSG00000087152	ENSG00000087152			25416	protein-coding gene	gene with protein product						15115762	Standard	NM_001098833		Approved	DKFZp761G2113	uc002ifz.3	Q14CW9		ENST00000454077.2:c.281C>T	17.37:g.42274671G>A	ENSP00000397259:p.Ala94Val					ATXN7L3_ENST00000454077.2_Missense_Mutation_p.A94V|ATXN7L3_ENST00000593073.1_Intron	p.A94V	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	3	589	-		Breast(137;0.00765)|Prostate(33;0.0181)	94						Missense_Mutation	SNP	ENST00000454077.2	37	c.281C>T	CCDS45697.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333869	0.81801	.	.	ENSG00000087152	ENST00000454077;ENST00000389384	.	.	.	4.75	4.75	0.60458	.	0.000000	0.64402	D	0.000001	T	0.76183	0.3952	M	0.74258	2.255	0.58432	D	0.999997	D;D	0.64830	0.975;0.994	P;P	0.60789	0.85;0.879	T	0.78145	-0.2318	9	0.46703	T	0.11	.	16.5408	0.84384	0.0:0.0:1.0:0.0	.	94;94	Q14CW9;Q14CW9-2	AT7L3_HUMAN;.	V	94	.	ENSP00000374035:A94V	A	-	2	0	ATXN7L3	39630197	1.000000	0.71417	0.927000	0.36925	0.902000	0.53008	9.086000	0.94088	2.192000	0.70111	0.655000	0.94253	GCC		0.597	ATXN7L3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457724.1			4	139	0	0	0	0.014758	0	4	139				
GRIK3	2899	broad.mit.edu	37	1	37324731	37324731	+	Missense_Mutation	SNP	C	C	T	rs569112734		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:37324731C>T	ENST00000373091.3	-	7	1098	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	GRIK3_ENST00000462621.1_5'UTR|GRIK3_ENST00000373093.4_Missense_Mutation_p.R361H	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	361					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.R361H(2)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GTTCATGAAGCGGCCGCCAAA	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		18567	0.0		0.0	False		,,,				2504	0.001					ENST00000373091.3																			2	Substitution - Missense(2)	p.R361H(2)	prostate(1)|lung(1)	breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(1081-1083)cGc>cAc		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						77.0	81.0	80.0					1																	37324731		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37324731C>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1082G>A	1.37:g.37324731C>T	ENSP00000362183:p.Arg361His					GRIK3_ENST00000373093.4_Missense_Mutation_p.R361H|GRIK3_ENST00000462621.1_5'UTR	p.R361H	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			7	1098	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	361					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.1082G>A	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	35	5.578993	0.96565	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.83163	-1.69;-1.69	5.68	5.68	0.88126	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89037	0.6601	M	0.71581	2.175	0.80722	D	1	D;D	0.55605	0.972;0.963	P;P	0.55545	0.778;0.703	D	0.88965	0.3396	10	0.54805	T	0.06	.	19.7849	0.96432	0.0:1.0:0.0:0.0	.	361;361	A9Z1Z8;Q13003	.;GRIK3_HUMAN	H	361	ENSP00000362183:R361H;ENSP00000362185:R361H	ENSP00000362183:R361H	R	-	2	0	GRIK3	37097318	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.785000	0.68998	2.671000	0.90904	0.650000	0.86243	CGC		0.627	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		20	88	0	0	0	0.043863	0	20	88				
LRRC49	54839	broad.mit.edu	37	15	71329574	71329574	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr15:71329574A>G	ENST00000260382.5	+	15	2020	c.1760A>G	c.(1759-1761)aAc>aGc	p.N587S	LRRC49_ENST00000560158.2_Missense_Mutation_p.N275S|LRRC49_ENST00000560691.1_Missense_Mutation_p.N293S|LRRC49_ENST00000443425.2_Missense_Mutation_p.N543S|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.N577S|LRRC49_ENST00000560369.1_Missense_Mutation_p.N592S	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	587						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.N587S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GGTATTATCAACGAAGAAAAT	0.318																																						ENST00000260382.5																			1	Substitution - Missense(1)	p.N587S(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.(1759-1761)aAc>aGc		leucine rich repeat containing 49							85.0	93.0	91.0					15																	71329574		2199	4295	6494	SO:0001583	missense	54839					cytoplasm|microtubule		g.chr15:71329574A>G		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1760A>G	15.37:g.71329574A>G	ENSP00000260382:p.Asn587Ser					LRRC49_ENST00000560691.1_Missense_Mutation_p.N293S|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_Missense_Mutation_p.N543S|LRRC49_ENST00000560369.1_Missense_Mutation_p.N592S|LRRC49_ENST00000544974.2_Missense_Mutation_p.N577S|LRRC49_ENST00000560158.2_Missense_Mutation_p.N275S	p.N587S	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN			15	2020	+			587					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.1760A>G	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	A	0.837	-0.743241	0.03088	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.33438	1.41;1.42;1.41	5.04	-6.24	0.02046	.	0.634375	0.17060	N	0.188588	T	0.11580	0.0282	N	0.03115	-0.41	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0	T	0.19943	-1.0290	10	0.13470	T	0.59	-0.4476	17.7229	0.88357	0.2339:0.0:0.7661:0.0	.	592;559;543;587;577	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	S	577;587;543;559	ENSP00000439600:N577S;ENSP00000260382:N587S;ENSP00000414065:N543S	ENSP00000260382:N587S	N	+	2	0	LRRC49	69116628	0.100000	0.21855	0.026000	0.17262	0.927000	0.56198	-0.553000	0.06012	-1.105000	0.03011	0.533000	0.62120	AAC		0.318	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		4	114	0	0	0	0.009096	0	4	114				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		4	58	0	0	0	0.014758	0	4	58				
PDXDC2P	283970	broad.mit.edu	37	16	70010511	70010511	+	RNA	SNP	A	A	G			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr16:70010511A>G	ENST00000531894.1	-	0	3872				RP11-419C5.2_ENST00000525562.1_RNA	NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)	p.I256T(2)									GTTATCAGTTATAGAATGTTG	0.498																																						ENST00000532298.1																			2	Substitution - Missense(2)	p.I256T(2)	prostate(2)	breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						c.(766-768)aTa>aCa																																								0							g.chr16:70010511A>G			16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70010511A>G						PDXDC2P_ENST00000531894.1_RNA	p.I256T							7	766	-								A8K9Z5	Missense_Mutation	SNP	ENST00000531894.1	37	c.767T>C		.	.	.	.	.	.	.	.	.	.	.	9.134	1.012196	0.19277	.	.	ENSG00000226232	ENST00000532298	T	0.54866	0.55	.	.	.	.	.	.	.	.	T	0.52677	0.1749	.	.	.	.	.	.	.	.	.	.	.	.	T	0.61277	-0.7095	3	0.87932	D	0	.	.	.	.	.	.	.	.	T	256	ENSP00000448651:I256T	ENSP00000448651:I256T	I	-	2	0	RP11-419C5.2	68568012	.	.	0.506000	0.27664	0.222000	0.24845	.	.	0.064000	0.16427	0.063000	0.15292	ATA		0.498	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000395258.1			8	46	0	0	0	0.047766	0	8	46				
JUND	3727	broad.mit.edu	37	19	18391297	18391297	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:18391297T>C	ENST00000252818.3	-	1	1135	c.998A>G	c.(997-999)aAc>aGc	p.N333S	MIR3188_ENST00000583494.1_RNA	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	333					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|circadian rhythm (GO:0007623)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|nucleus (GO:0005634)|protein complex (GO:0043234)	double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.N289S(1)		lung(2)|prostate(1)	3						GCAGCCGCTGTTGACGTGGCT	0.706																																						ENST00000252818.3																			1	Substitution - Missense(1)	p.N289S(1)	prostate(1)	lung(2)|prostate(1)	3						c.(997-999)aAc>aGc		jun D proto-oncogene							10.0	11.0	11.0					19																	18391297		2188	4276	6464	SO:0001583	missense	3727				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr19:18391297T>C		CCDS32959.1	19p13.2	2013-01-10				ENSG00000130522		"""basic leucine zipper proteins"""	6206	protein-coding gene	gene with protein product	"""transcription factor jun-D"", ""JunD-FL isoform"", ""activator protein 1"""	165162				2112242, 1903194	Standard	NM_005354		Approved	AP-1	uc002nip.2	P17535		ENST00000252818.3:c.998A>G	19.37:g.18391297T>C	ENSP00000252818:p.Asn333Ser						p.N333S	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN			1	1135	-			333					Q53EK9	Missense_Mutation	SNP	ENST00000252818.3	37	c.998A>G	CCDS32959.1	.	.	.	.	.	.	.	.	.	.	.	10.08	1.253437	0.22965	.	.	ENSG00000130522	ENST00000252818	T	0.22945	1.93	3.2	3.2	0.36748	.	0.055387	0.64402	U	0.000002	T	0.16938	0.0407	L	0.37630	1.12	0.40612	D	0.981681	B	0.32781	0.384	B	0.27262	0.078	T	0.07868	-1.0750	10	0.27082	T	0.32	.	9.7586	0.40519	0.0:0.0:0.0:1.0	.	333	P17535	JUND_HUMAN	S	333	ENSP00000252818:N333S	ENSP00000252818:N333S	N	-	2	0	JUND	18252297	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.063000	0.30567	1.465000	0.48006	0.375000	0.23000	AAC		0.706	JUND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466318.2	NM_005354		5	9	0	0	0	0.014758	0	5	9				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	67	0	0	0	0.009096	0	3	67				
CHIA	27159	broad.mit.edu	37	1	111854851	111854851	+	Missense_Mutation	SNP	C	C	A	rs149356213	byFrequency	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:111854851C>A	ENST00000369740.1	+	4	198	c.95C>A	c.(94-96)gCc>gAc	p.A32D	CHIA_ENST00000430615.1_Intron|CHIA_ENST00000353665.6_Intron|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000343320.6_Missense_Mutation_p.A32D|CHIA_ENST00000451398.2_Intron	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	32					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)	p.A32D(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		ACCAACTGGGCCCAGTACCGG	0.582																																						ENST00000369740.1																			1	Substitution - Missense(1)	p.A32D(1)	prostate(1)	central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23						c.(94-96)gCc>gAc		chitinase, acidic							67.0	71.0	70.0					1																	111854851		2110	4230	6340	SO:0001583	missense	27159				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	g.chr1:111854851C>A	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.95C>A	1.37:g.111854851C>A	ENSP00000358755:p.Ala32Asp					CHIA_ENST00000483391.1_Intron|CHIA_ENST00000353665.6_Intron|CHIA_ENST00000451398.2_Intron|CHIA_ENST00000430615.1_Intron|CHIA_ENST00000343320.6_Missense_Mutation_p.A32D	p.A32D	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	4	198	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	32					Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	c.95C>A	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857960	0.91433	.	.	ENSG00000134216	ENST00000369740;ENST00000343320	T;T	0.04454	3.62;3.62	5.08	5.08	0.68730	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.248234	0.25666	U	0.029101	T	0.16727	0.0402	M	0.87097	2.86	0.80722	D	1	P	0.49447	0.924	P	0.61275	0.886	T	0.00288	-1.1845	10	0.66056	D	0.02	-12.4651	16.3361	0.83062	0.0:1.0:0.0:0.0	.	32	Q9BZP6	CHIA_HUMAN	D	32	ENSP00000358755:A32D;ENSP00000341828:A32D	ENSP00000341828:A32D	A	+	2	0	CHIA	111656374	0.993000	0.37304	0.999000	0.59377	0.981000	0.71138	1.545000	0.36169	2.506000	0.84524	0.655000	0.94253	GCC		0.582	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			5	97	1	0	1.23904e-05	0.014758	1.49105e-05	5	97				
ZNF587B	100293516	broad.mit.edu	37	19	58353011	58353011	+	Silent	SNP	A	A	G	rs368797077		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:58353011A>G	ENST00000442832.4	+	3	1203	c.969A>G	c.(967-969)aaA>aaG	p.K323K	ZNF587B_ENST00000316462.4_Intron|ZNF587B_ENST00000594901.1_Silent_p.K323K|CTD-2583A14.10_ENST00000598031.1_Intron	NM_001204818.1	NP_001191747.1	E7ETH6	Z587B_HUMAN	zinc finger protein 587B	323					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.K323K(1)									ACGCTGGAAAAGGGCCTTATG	0.418																																						ENST00000442832.4																			1	Substitution - coding silent(1)	p.K323K(1)	prostate(1)								c.(967-969)aaA>aaG		zinc finger protein 587B																																				SO:0001819	synonymous_variant	100293516				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58353011A>G	AK299091	CCDS56109.1	19q13.43	2013-01-08				ENSG00000269343		"""Zinc fingers, C2H2-type"", ""-"""	37142	protein-coding gene	gene with protein product							Standard	NM_001204818		Approved		uc021vcp.1	E7ETH6		ENST00000442832.4:c.969A>G	19.37:g.58353011A>G						CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000594901.1_Silent_p.K323K|ZNF587B_ENST00000316462.4_Intron	p.K323K	NM_001204818.1	NP_001191747.1	B4DR41	B4DR41_HUMAN			3	1203	+			323					B4DR41	Silent	SNP	ENST00000442832.4	37	c.969A>G	CCDS56109.1																																																																																				0.418	ZNF587B-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466834.2	NM_001204818		2	6	0	0	0	0.004672	0	2	6				
MOXD1	26002	broad.mit.edu	37	6	132641814	132641814	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr6:132641814A>G	ENST00000367963.3	-	9	1437	c.1319T>C	c.(1318-1320)aTt>aCt	p.I440T	MOXD1_ENST00000336749.3_Missense_Mutation_p.I372T|MOXD1_ENST00000489128.1_5'UTR	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	440						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)	p.I440T(1)|p.I372T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		ACACTCAGTAATTAGGTTATC	0.308																																						ENST00000367963.3																			2	Substitution - Missense(2)	p.I440T(1)|p.I372T(1)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37						c.(1318-1320)aTt>aCt		monooxygenase, DBH-like 1							73.0	73.0	73.0					6																	132641814		2203	4300	6503	SO:0001583	missense	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132641814A>G	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.1319T>C	6.37:g.132641814A>G	ENSP00000356940:p.Ile440Thr					MOXD1_ENST00000336749.3_Missense_Mutation_p.I372T|MOXD1_ENST00000489128.1_5'UTR	p.I440T	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	9	1437	-	Breast(56;0.0495)		440					Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	c.1319T>C	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	A	15.92	2.974684	0.53720	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.76968	-1.06;-1.06	5.58	5.58	0.84498	PHM/PNGase F domain (1);Copper type II, ascorbate-dependent monooxygenase-like, C-terminal (1);	0.058074	0.64402	D	0.000003	T	0.73024	0.3534	L	0.47078	1.49	0.80722	D	1	B;P	0.49559	0.118;0.925	B;P	0.49752	0.217;0.621	T	0.77362	-0.2616	10	0.62326	D	0.03	-22.7767	15.7142	0.77655	1.0:0.0:0.0:0.0	.	440;372	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	T	440;372	ENSP00000356940:I440T;ENSP00000336998:I372T	ENSP00000336998:I372T	I	-	2	0	MOXD1	132683507	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.373000	0.79623	2.244000	0.73946	0.460000	0.39030	ATT		0.308	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		6	24	0	0	0	0.021553	0	6	24				
TUBB1	81027	broad.mit.edu	37	20	57598857	57598857	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr20:57598857G>C	ENST00000217133.1	+	4	644	c.375G>C	c.(373-375)gaG>gaC	p.E125D		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	125					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.E125D(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	ACGAGAGTGAGAGCTGTGACT	0.602																																						ENST00000217133.1																			2	Substitution - Missense(2)	p.E125D(2)	prostate(2)	endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16						c.(373-375)gaG>gaC		tubulin, beta 1 class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)						91.0	99.0	96.0					20																	57598857		2203	4300	6503	SO:0001583	missense	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57598857G>C	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.375G>C	20.37:g.57598857G>C	ENSP00000217133:p.Glu125Asp						p.E125D	NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		4	644	+	all_lung(29;0.00711)		125						Missense_Mutation	SNP	ENST00000217133.1	37	c.375G>C	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245667	0.59103	.	.	ENSG00000101162	ENST00000217133	T	0.73047	-0.71	5.39	4.44	0.53790	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	T	0.82051	0.4953	M	0.81179	2.53	0.53688	D	0.99997	P	0.51057	0.941	D	0.66196	0.942	T	0.83316	-0.0020	10	0.87932	D	0	.	9.3959	0.38401	0.1619:0.0:0.8381:0.0	.	125	Q9H4B7	TBB1_HUMAN	D	125	ENSP00000217133:E125D	ENSP00000217133:E125D	E	+	3	2	TUBB1	57032252	1.000000	0.71417	0.294000	0.24946	0.784000	0.44337	4.882000	0.63121	1.287000	0.44583	0.655000	0.94253	GAG		0.602	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		19	108	0	0	0	0.049695	0	19	108				
NRXN1	9378	broad.mit.edu	37	2	51255226	51255226	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr2:51255226G>A	ENST00000406316.2	-	2	1662	c.186C>T	c.(184-186)agC>agT	p.S62S	NRXN1_ENST00000401669.2_Silent_p.S62S|NRXN1_ENST00000405472.3_Silent_p.S62S|NRXN1_ENST00000404971.1_Silent_p.S62S|NRXN1_ENST00000402717.3_Silent_p.S62S|NRXN1_ENST00000405581.1_Silent_p.S62S|NRXN1_ENST00000406859.3_Silent_p.S62S	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	62	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.S62S(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGCCGCGGGCGCTGCGAGTCT	0.662																																						ENST00000404971.1																			3	Substitution - coding silent(3)	p.S62S(3)	prostate(3)	breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(184-186)agC>agT		neurexin 1							10.0	14.0	13.0					2																	51255226		1986	4148	6134	SO:0001819	synonymous_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51255226G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.186C>T	2.37:g.51255226G>A						NRXN1_ENST00000401669.2_Silent_p.S62S|NRXN1_ENST00000405581.1_Silent_p.S62S|NRXN1_ENST00000402717.3_Silent_p.S62S|NRXN1_ENST00000406859.3_Silent_p.S62S|NRXN1_ENST00000406316.2_Silent_p.S62S|NRXN1_ENST00000405472.3_Silent_p.S62S	p.S62S	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1525	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	62			Laminin G-like 1.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.186C>T	CCDS54360.1																																																																																				0.662	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			4	10	0	0	0	0.014758	0	4	10				
SCN7A	6332	broad.mit.edu	37	2	167262810	167262810	+	Silent	SNP	A	A	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr2:167262810A>T	ENST00000409855.1	-	25	4455	c.4329T>A	c.(4327-4329)atT>atA	p.I1443I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1443					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.I1443I(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TACTGTTGAAAATTGCATCAA	0.383																																						ENST00000409855.1																			3	Substitution - coding silent(3)	p.I1443I(3)	prostate(3)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(4327-4329)atT>atA		sodium channel, voltage-gated, type VII, alpha subunit							142.0	135.0	138.0					2																	167262810		1875	4134	6009	SO:0001819	synonymous_variant	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167262810A>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4329T>A	2.37:g.167262810A>T							p.I1443I	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			25	4455	-			1443						Silent	SNP	ENST00000409855.1	37	c.4329T>A	CCDS46442.1																																																																																				0.383	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			32	132	0	0	0	0.037714	0	32	132				
LRRIQ3	127255	broad.mit.edu	37	1	74507397	74507397	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:74507397C>A	ENST00000395089.1	-	6	1217	c.1218G>T	c.(1216-1218)gaG>gaT	p.E406D	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.E406D			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	406								p.E406D(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GTGCAAAAAACTCTTTCATAC	0.343																																						ENST00000354431.4																			1	Substitution - Missense(1)	p.E406D(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(1216-1218)gaG>gaT		leucine-rich repeats and IQ motif containing 3							121.0	109.0	113.0					1																	74507397		1841	4084	5925	SO:0001583	missense	127255							g.chr1:74507397C>A	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1218G>T	1.37:g.74507397C>A	ENSP00000378524:p.Glu406Asp					LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E406D	p.E406D	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			7	1409	-			406					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.1218G>T	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120528	0.37436	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.09350	2.99;2.99	5.56	-3.38	0.04883	.	0.977354	0.08343	N	0.960578	T	0.02304	0.0071	L	0.32530	0.975	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.48854	-0.8998	10	0.66056	D	0.02	.	5.3268	0.15910	0.2353:0.2276:0.4624:0.0748	.	406	A6PVS8	LRIQ3_HUMAN	D	406	ENSP00000378524:E406D;ENSP00000346414:E406D	ENSP00000346414:E406D	E	-	3	2	LRRIQ3	74279985	0.002000	0.14202	0.043000	0.18650	0.073000	0.16967	-0.540000	0.06106	-0.428000	0.07339	-0.283000	0.09986	GAG		0.343	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		15	74	1	0	3.27435e-08	0.020292	4.00826e-08	15	74				
GALNTL5	168391	broad.mit.edu	37	7	151664546	151664546	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr7:151664546G>A	ENST00000392800.2	+	2	469	c.215G>A	c.(214-216)aGg>aAg	p.R72K	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R72K	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	72					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.R72K(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		ATAGTCAAAAGGACTGATGAA	0.373																																						ENST00000392800.2																			1	Substitution - Missense(1)	p.R72K(1)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32						c.(214-216)aGg>aAg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5							80.0	83.0	82.0					7																	151664546		2203	4300	6503	SO:0001583	missense	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151664546G>A	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.215G>A	7.37:g.151664546G>A	ENSP00000376548:p.Arg72Lys					GALNTL5_ENST00000431418.2_Missense_Mutation_p.R72K	p.R72K	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	2	469	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	72					Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	c.215G>A	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.954945	0.00470	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.58060	0.36;0.36	4.1	-8.2	0.01045	.	7745.180000	0.00166	N	0.000000	T	0.17323	0.0416	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30060	-0.9991	10	0.07482	T	0.82	.	0.8812	0.01234	0.3225:0.2472:0.0986:0.3317	.	72	Q7Z4T8	GLTL5_HUMAN	K	72	ENSP00000392582:R72K;ENSP00000376548:R72K	ENSP00000376548:R72K	R	+	2	0	GALNTL5	151295479	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.326000	0.00511	-3.776000	0.00108	-1.150000	0.01838	AGG		0.373	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		4	41	0	0	0	0.014758	0	4	41				
TNN	63923	broad.mit.edu	37	1	175086262	175086262	+	Silent	SNP	G	G	A	rs138969989		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:175086262G>A	ENST00000239462.4	+	10	2420	c.2307G>A	c.(2305-2307)ccG>ccA	p.P769P		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	769	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.P769P(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCTGAGGCCGGGTGTGGAGT	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		18803	0.001		0.0	False		,,,				2504	0.0					ENST00000239462.4																			1	Substitution - coding silent(1)	p.P769P(1)	prostate(1)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(2305-2307)ccG>ccA		tenascin N							88.0	82.0	84.0					1																	175086262		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175086262G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2307G>A	1.37:g.175086262G>A							p.P769P	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	10	2420	+		Breast(1374;0.000962)	769			Fibronectin type-III 6.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.2307G>A	CCDS30943.1																																																																																				0.617	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		19	101	0	0	0	0.038395	0	19	101				
BAGE2	85319	broad.mit.edu	37	21	11058248	11058248	+	RNA	SNP	G	G	A	rs8130203	byFrequency	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr21:11058248G>A	ENST00000470054.1	-	0	399							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAGCACAAGGATAATGATAC	0.433																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							80.0	67.0	71.0					21																	11058248		692	1591	2283			85319							g.chr21:11058248G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058248G>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	399	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.433	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	86	0	0	0	0.029380	0	5	86				
DNAH2	146754	broad.mit.edu	37	17	7690227	7690227	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr17:7690227A>T	ENST00000572933.1	+	42	7939	c.6479A>T	c.(6478-6480)gAc>gTc	p.D2160V	DNAH2_ENST00000389173.2_Missense_Mutation_p.D2160V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2160	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D2160V(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAGAAACCCGACGAGAAGTGG	0.567																																						ENST00000572933.1																			1	Substitution - Missense(1)	p.D2160V(1)	prostate(1)	NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(6478-6480)gAc>gTc		dynein, axonemal, heavy chain 2							82.0	58.0	66.0					17																	7690227		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7690227A>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6479A>T	17.37:g.7690227A>T	ENSP00000458355:p.Asp2160Val					DNAH2_ENST00000389173.2_Missense_Mutation_p.D2160V	p.D2160V			Q9P225	DYH2_HUMAN			42	7939	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2160			AAA 2 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.6479A>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.407497	0.83340	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	D	0.87887	-2.31	5.05	5.05	0.67936	ATPase, dynein-related, AAA domain (1);	0.184903	0.45361	D	0.000368	D	0.91005	0.7171	L	0.60957	1.885	0.80722	D	1	D	0.63880	0.993	D	0.63597	0.916	D	0.91853	0.5493	10	0.72032	D	0.01	.	13.9099	0.63860	1.0:0.0:0.0:0.0	.	2160	Q9P225	DYH2_HUMAN	V	2160	ENSP00000373825:D2160V	ENSP00000353818:D2160V	D	+	2	0	DNAH2	7630952	1.000000	0.71417	0.955000	0.39395	0.806000	0.45545	8.376000	0.90138	2.114000	0.64651	0.467000	0.42956	GAC		0.567	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		11	45	0	0	0	0.105934	0	11	45				
ZFHX4	79776	broad.mit.edu	37	8	77690474	77690474	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr8:77690474C>T	ENST00000521891.2	+	4	3572	c.3124C>T	c.(3124-3126)Ccc>Tcc	p.P1042S	ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1016S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1016S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1016S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1016					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.P1042S(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGCAGTGAATCCCGAATCCTG	0.483										HNSCC(33;0.089)																												ENST00000521891.2																			2	Substitution - Missense(2)	p.P1042S(2)	prostate(2)	NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(3124-3126)Ccc>Tcc		zinc finger homeobox 4							127.0	126.0	126.0					8																	77690474		2005	4162	6167	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77690474C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3124C>T	8.37:g.77690474C>T	ENSP00000430497:p.Pro1042Ser	HNSCC(33;0.089)				ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1016S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1016S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1016S	p.P1042S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		4	3572	+			1016					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.3124C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	5.379	0.255137	0.10185	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.22	2.34	0.29019	.	0.322259	0.22228	N	0.062847	T	0.16642	0.0400	N	0.10916	0.065	0.32614	N	0.524203	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.33163	-0.9879	10	0.02654	T	1	.	5.6426	0.17572	0.0:0.6205:0.1396:0.2399	.	1016;1016;1042	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	S	1042;1042;1016;1016;1016	ENSP00000430497:P1042S;ENSP00000399605:P1016S;ENSP00000050961:P1016S;ENSP00000430848:P1016S	ENSP00000050961:P1016S	P	+	1	0	ZFHX4	77853029	0.996000	0.38824	0.955000	0.39395	0.957000	0.61999	1.011000	0.29911	0.394000	0.25230	0.650000	0.86243	CCC		0.483	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		25	99	0	0	0	0.091800	0	25	99				
CFHR5	81494	broad.mit.edu	37	1	196952162	196952162	+	Missense_Mutation	SNP	G	G	A	rs375843181		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr1:196952162G>A	ENST00000256785.4	+	2	315	c.206G>A	c.(205-207)cGc>cAc	p.R69H	CFHR5_ENST00000367414.5_Missense_Mutation_p.R93H			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	69	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.R69H(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TTTTGGACTCGCATAACATGC	0.393																																						ENST00000367414.5																			1	Substitution - Missense(1)	p.R69H(1)	prostate(1)	NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(277-279)cGc>cAc		complement factor H-related 5		G	HIS/ARG	1,4405		0,1,2202	117.0	105.0	109.0		206	-4.1	0.0	1		109	0,8600		0,0,4300	no	missense	CFHR5	NM_030787.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	69/570	196952162	1,13005	2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196952162G>A	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.206G>A	1.37:g.196952162G>A	ENSP00000256785:p.Arg69His					CFHR5_ENST00000256785.4_Missense_Mutation_p.R69H	p.R93H	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			2	334	+			69			Sushi 2.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.278G>A	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	.	11.96	1.794607	0.31777	2.27E-4	0.0	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.64803	-0.12;-0.12	2.45	-4.13	0.03904	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.45296	0.1335	L	0.46157	1.445	0.09310	N	1	B	0.25521	0.128	B	0.20955	0.032	T	0.24728	-1.0152	9	0.31617	T	0.26	.	4.0223	0.09672	0.3876:0.3452:0.2672:0.0	.	69	Q9BXR6	FHR5_HUMAN	H	93;69	ENSP00000356384:R93H;ENSP00000256785:R69H	ENSP00000256785:R69H	R	+	2	0	CFHR5	195218785	0.000000	0.05858	0.002000	0.10522	0.603000	0.37013	-2.581000	0.00906	-1.048000	0.03238	0.305000	0.20034	CGC		0.393	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		10	57	0	0	0	0.058154	0	10	57				
MYH4	4622	broad.mit.edu	37	17	10355525	10355525	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr17:10355525G>A	ENST00000255381.2	-	27	3581	c.3471C>T	c.(3469-3471)gcC>gcT	p.A1157A	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1157					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.A1157A(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGCCCCACCGGCTTCTTCCA	0.607																																						ENST00000255381.2																			1	Substitution - coding silent(1)	p.A1157A(1)	prostate(1)	NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(3469-3471)gcC>gcT		myosin, heavy chain 4, skeletal muscle							80.0	89.0	86.0					17																	10355525		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10355525G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3471C>T	17.37:g.10355525G>A						CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.A1157A	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			27	3581	-			1157						Silent	SNP	ENST00000255381.2	37	c.3471C>T	CCDS11154.1																																																																																				0.607	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		34	125	0	0	0	0.064281	0	34	125				
TLL1	7092	broad.mit.edu	37	4	166935656	166935656	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr4:166935656G>A	ENST00000061240.2	+	8	1633	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	TLL1_ENST00000513213.1_Missense_Mutation_p.R329Q|TLL1_ENST00000507499.1_Missense_Mutation_p.R329Q	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	329	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R329Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATTGGTCAGCGAACCCGTCTA	0.458																																						ENST00000061240.2																			1	Substitution - Missense(1)	p.R329Q(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(985-987)cGa>cAa		tolloid-like 1							247.0	221.0	230.0					4																	166935656		2203	4299	6502	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166935656G>A	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.986G>A	4.37:g.166935656G>A	ENSP00000061240:p.Arg329Gln					TLL1_ENST00000507499.1_Missense_Mutation_p.R329Q|TLL1_ENST00000513213.1_Missense_Mutation_p.R329Q	p.R329Q	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	8	1633	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	329			Metalloprotease (By similarity).		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.986G>A	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571383	0.65765	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.68025	-0.3;-0.3;-0.3	5.17	4.33	0.51752	Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	U	0.000001	T	0.81564	0.4849	H	0.95260	3.645	0.80722	D	1	D;D	0.71674	0.998;0.978	P;B	0.51550	0.673;0.393	D	0.86520	0.1815	10	0.56958	D	0.05	.	13.729	0.62776	0.0751:0.0:0.9249:0.0	.	329;329	E9PD25;O43897	.;TLL1_HUMAN	Q	329	ENSP00000061240:R329Q;ENSP00000426082:R329Q;ENSP00000422937:R329Q	ENSP00000061240:R329Q	R	+	2	0	TLL1	167155106	1.000000	0.71417	0.787000	0.31911	0.044000	0.14063	9.753000	0.98904	1.165000	0.42670	0.557000	0.71058	CGA		0.458	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			11	247	0	0	0	0.069234	0	11	247				
SV2A	9900	broad.mit.edu	37	1	149885276	149885276	+	Silent	SNP	G	G	A	rs368036992		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr1:149885276G>A	ENST00000369146.3	-	2	607	c.117C>T	c.(115-117)gaC>gaT	p.D39D	SV2A_ENST00000369145.1_Silent_p.D39D	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	39	Interaction with SYT1. {ECO:0000250}.				cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.D39D(2)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GGGAATATTCGTCCTGGACTC	0.542																																						ENST00000369146.3																			2	Substitution - coding silent(2)	p.D39D(2)	prostate(2)	breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(115-117)gaC>gaT		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)	G		1,4405	2.1+/-5.4	0,1,2202	140.0	124.0	130.0		117	-10.4	0.4	1		130	0,8600		0,0,4300	no	coding-synonymous	SV2A	NM_014849.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		39/743	149885276	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149885276G>A	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.117C>T	1.37:g.149885276G>A						SV2A_ENST00000369145.1_Silent_p.D39D	p.D39D	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	607	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		39			Interaction with SYT1 (By similarity).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	ENST00000369146.3	37	c.117C>T	CCDS940.1																																																																																				0.542	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			19	94	0	0	0	0.043863	0	19	94				
APPL2	55198	broad.mit.edu	37	12	105571030	105571030	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr12:105571030G>A	ENST00000258530.3	-	18	1870	c.1645C>T	c.(1645-1647)Cca>Tca	p.P549S	APPL2_ENST00000546731.1_5'Flank|APPL2_ENST00000539978.2_Missense_Mutation_p.P506S|APPL2_ENST00000551662.1_Missense_Mutation_p.P555S	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.P549S(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGAGTCTGTGGATCTATCAAC	0.328																																						ENST00000258530.3																			1	Substitution - Missense(1)	p.P549S(1)	prostate(1)	breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(1645-1647)Cca>Tca		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2							157.0	145.0	149.0					12																	105571030		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105571030G>A	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1645C>T	12.37:g.105571030G>A	ENSP00000258530:p.Pro549Ser					APPL2_ENST00000539978.2_Missense_Mutation_p.P506S|APPL2_ENST00000551662.1_Missense_Mutation_p.P555S	p.P549S	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN			18	1870	-			549			PID.		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.1645C>T	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622571	0.87460	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662;ENST00000553109	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.32	5.32	0.75619	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.993	P;D;P	0.87578	0.82;0.998;0.835	T	0.54892	-0.8225	10	0.87932	D	0	-13.789	18.9808	0.92755	0.0:0.0:1.0:0.0	.	555;506;549	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	S	549;506;555;80	ENSP00000258530:P549S;ENSP00000444472:P506S;ENSP00000446917:P555S;ENSP00000446510:P80S	ENSP00000258530:P549S	P	-	1	0	APPL2	104095160	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.371000	0.66150	2.492000	0.84095	0.650000	0.86243	CCA		0.328	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		7	52	0	0	0	0.047766	0	7	52				
CSH2	1443	broad.mit.edu	37	17	61949662	61949662	+	Missense_Mutation	SNP	G	G	C	rs184890744	byFrequency	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr17:61949662G>C	ENST00000392886.2	-	5	629	c.478C>G	c.(478-480)Cgg>Ggg	p.R160G	CSH2_ENST00000560142.1_Missense_Mutation_p.R103G|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000345366.7_Missense_Mutation_p.R65G	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	160						extracellular region (GO:0005576)	metal ion binding (GO:0046872)	p.R160G(1)		endometrium(2)|large_intestine(1)|lung(3)	6						TGCCCAGTCCGGCGGCTGCCG	0.547																																						ENST00000392886.2																			1	Substitution - Missense(1)	p.R160G(1)	prostate(1)	endometrium(2)|large_intestine(1)|lung(3)	6						c.(478-480)Cgg>Ggg		chorionic somatomammotropin hormone 2							82.0	85.0	84.0					17																	61949662		2203	4297	6500	SO:0001583	missense	1443				female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61949662G>C	V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"""placental lactogen"", ""chorionic somatomammotropin B"""	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.478C>G	17.37:g.61949662G>C	ENSP00000376623:p.Arg160Gly					CSH2_ENST00000345366.7_Missense_Mutation_p.R65G|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Missense_Mutation_p.R103G	p.R160G	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN			5	629	-			160					P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	ENST00000392886.2	37	c.478C>G	CCDS42369.1	.	.	.	.	.	.	.	.	.	.	N	6.487	0.458034	0.12342	.	.	ENSG00000213218	ENST00000345366;ENST00000392886	D;D	0.89123	-2.47;-2.33	3.97	2.91	0.33838	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.044430	0.07596	N	0.922891	D	0.91962	0.7454	M	0.84948	2.725	0.34397	D	0.694826	B;B;P	0.43024	0.054;0.054;0.798	B;B;P	0.45881	0.022;0.022;0.496	D	0.91672	0.5351	10	0.59425	D	0.04	.	12.5718	0.56341	0.0:0.0:0.8218:0.1782	.	160;160;65	P01243;A8K6C2;B1A4H9	CSH_HUMAN;.;.	G	65;160	ENSP00000308396:R65G;ENSP00000376623:R160G	ENSP00000308396:R65G	R	-	1	2	CSH2	59303394	0.033000	0.19621	0.970000	0.41538	0.006000	0.05464	1.501000	0.35693	2.033000	0.60031	0.462000	0.41574	CGG		0.547	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1	NM_020991		28	124	0	0	0	0.041601	0	28	124				
LTBP3	4054	broad.mit.edu	37	11	65315007	65315007	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr11:65315007G>A	ENST00000301873.5	-	14	2278	c.2010C>T	c.(2008-2010)tgC>tgT	p.C670C	LTBP3_ENST00000536982.1_Silent_p.C296C|LTBP3_ENST00000322147.4_Silent_p.C670C|LTBP3_ENST00000530785.1_5'Flank|LTBP3_ENST00000532932.1_Silent_p.C100C|LTBP3_ENST00000529189.1_5'Flank	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	670	Cys-rich.|EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)	p.C670C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CGCCGTCGCCGCACAGGTGGG	0.657																																						ENST00000301873.5																			1	Substitution - coding silent(1)	p.C670C(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(2008-2010)tgC>tgT		latent transforming growth factor beta binding protein 3							58.0	66.0	63.0					11																	65315007		2201	4297	6498	SO:0001819	synonymous_variant	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65315007G>A	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.2010C>T	11.37:g.65315007G>A						LTBP3_ENST00000532932.1_Silent_p.C100C|LTBP3_ENST00000322147.4_Silent_p.C670C|LTBP3_ENST00000536982.1_Silent_p.C296C	p.C670C	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			14	2278	-			670			Cys-rich.|EGF-like 5; calcium-binding (Potential).		O15107|Q96HB9|Q9H7K2|Q9UFN4	Silent	SNP	ENST00000301873.5	37	c.2010C>T	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	G	5.642	0.303100	0.10678	.	.	ENSG00000168056	ENST00000526927	.	.	.	4.67	0.601	0.17529	.	.	.	.	.	T	0.53514	0.1801	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40136	-0.9579	4	.	.	.	.	6.6827	0.23129	0.4259:0.0:0.5741:0.0	.	.	.	.	W	321	.	.	R	-	1	2	LTBP3	65071583	0.970000	0.33590	0.993000	0.49108	0.412000	0.31113	0.912000	0.28597	-0.163000	0.10946	0.313000	0.20887	CGG		0.657	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		5	118	0	0	0	0.021553	0	5	118				
IRX5	10265	broad.mit.edu	37	16	54966502	54966502	+	Silent	SNP	A	A	G			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr16:54966502A>G	ENST00000394636.4	+	2	679	c.342A>G	c.(340-342)ccA>ccG	p.P114P	IRX5_ENST00000320990.5_Silent_p.P114P|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Silent_p.P48P			P78411	IRX5_HUMAN	iroquois homeobox 5	114					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)	p.P114P(1)		kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						ACGGGGACCCAGCGTACCGGA	0.657																																						ENST00000394636.4																			1	Substitution - coding silent(1)	p.P114P(1)	prostate(1)	kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						c.(340-342)ccA>ccG		iroquois homeobox 5							102.0	86.0	92.0					16																	54966502		2198	4300	6498	SO:0001819	synonymous_variant	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54966502A>G	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.342A>G	16.37:g.54966502A>G						IRX5_ENST00000320990.5_Silent_p.P114P|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Silent_p.P48P	p.P114P			P78411	IRX5_HUMAN			2	679	+			114					H0YMS7|P78416|Q7Z2E1	Silent	SNP	ENST00000394636.4	37	c.342A>G	CCDS10751.1																																																																																				0.657	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			17	81	0	0	0	0.033300	0	17	81				
ZNF749	388567	broad.mit.edu	37	19	57956721	57956721	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr19:57956721A>C	ENST00000334181.4	+	3	2455	c.2205A>C	c.(2203-2205)aaA>aaC	p.K735N	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	735					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K735N(1)|p.K648N(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		ACTTCAACAAATGTAATACTG	0.398																																						ENST00000334181.4																			2	Substitution - Missense(2)	p.K735N(1)|p.K648N(1)	prostate(2)	breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(2203-2205)aaA>aaC		zinc finger protein 749							106.0	109.0	108.0					19																	57956721		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956721A>C	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.2205A>C	19.37:g.57956721A>C	ENSP00000333980:p.Lys735Asn					AC004076.9_ENST00000596831.1_Intron	p.K735N	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	2455	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	735						Missense_Mutation	SNP	ENST00000334181.4	37	c.2205A>C	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	a	5.243	0.230386	0.09969	.	.	ENSG00000186230	ENST00000334181	T	0.03468	3.92	0.838	-0.33	0.12683	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08268	0.0206	L	0.49513	1.565	0.09310	N	1	D	0.64830	0.994	P	0.62885	0.908	T	0.30357	-0.9981	9	0.33940	T	0.23	.	4.2342	0.10618	0.4356:0.0:0.5644:0.0	.	735	O43361	ZN749_HUMAN	N	735	ENSP00000333980:K735N	ENSP00000333980:K735N	K	+	3	2	ZNF749	62648533	0.000000	0.05858	0.001000	0.08648	0.397000	0.30659	0.668000	0.25127	-0.179000	0.10654	0.255000	0.18592	AAA		0.398	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		18	89	0	0	0	0.049695	0	18	89				
CCDC183	84960	broad.mit.edu	37	9	139701517	139701517	+	Splice_Site	SNP	C	C	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr9:139701517C>A	ENST00000338005.6	+	13	1520	c.1485C>A	c.(1483-1485)atC>atA	p.I495I	RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984-AS1_ENST00000414656.1_RNA|RABL6_ENST00000311502.7_5'Flank|RABL6_ENST00000371663.4_5'Flank|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000357466.2_5'Flank|RABL6_ENST00000371671.4_5'Flank	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		495								p.I495I(1)		biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		AGGATATGATCGGTACAGGCC	0.642																																						ENST00000338005.6																			1	Substitution - coding silent(1)	p.I495I(1)	prostate(1)	biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.e13+1		KIAA1984							33.0	38.0	36.0					9																	139701517		1947	4125	6072	SO:0001630	splice_region_variant	84960							g.chr9:139701517C>A																												ENST00000338005.6:c.1486+1C>A	9.37:g.139701517C>A						KIAA1984-AS1_ENST00000414656.1_RNA	p.I495_splice	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)	13	1520	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)	495					B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Splice_Site	SNP	ENST00000338005.6	37	c.1486_splice	CCDS43906.1																																																																																				0.642	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1		Silent	3	43	1	0	0.004672	0.004672	0.00531889	3	43				
SCN9A	6335	broad.mit.edu	37	2	167142945	167142945	+	Silent	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr2:167142945C>T	ENST00000409435.1	-	10	1502	c.1503G>A	c.(1501-1503)tcG>tcA	p.S501S	SCN9A_ENST00000409672.1_Silent_p.S501S|SCN9A_ENST00000375387.4_Silent_p.S502S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.S502S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	501				S -> P (in Ref. 4; AAT85835). {ECO:0000305}.	behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.S501S(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATTCTGATTTCGACAATTTCT	0.428																																						ENST00000375387.4																			1	Substitution - coding silent(1)	p.S501S(1)	prostate(1)	NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(1504-1506)tcG>tcA		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						170.0	161.0	164.0					2																	167142945		1910	4120	6030	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167142945C>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1503G>A	2.37:g.167142945C>T						AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Silent_p.S501S|SCN9A_ENST00000303354.6_Silent_p.S502S|SCN9A_ENST00000409672.1_Silent_p.S501S	p.S502S			Q15858	SCN9A_HUMAN			11	1846	-			501					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.1506G>A	CCDS46441.1																																																																																				0.428	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		7	194	0	0	0	0.038147	0	7	194				
CSH2	1443	broad.mit.edu	37	17	61949663	61949663	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr17:61949663G>A	ENST00000392886.2	-	5	628	c.477C>T	c.(475-477)cgC>cgT	p.R159R	CSH2_ENST00000560142.1_Silent_p.R102R|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000345366.7_Silent_p.R64R	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	159						extracellular region (GO:0005576)	metal ion binding (GO:0046872)	p.R159R(1)		endometrium(2)|large_intestine(1)|lung(3)	6						GCCCAGTCCGGCGGCTGCCGT	0.547																																						ENST00000392886.2																			1	Substitution - coding silent(1)	p.R159R(1)	prostate(1)	endometrium(2)|large_intestine(1)|lung(3)	6						c.(475-477)cgC>cgT		chorionic somatomammotropin hormone 2							79.0	82.0	81.0					17																	61949663		2203	4297	6500	SO:0001819	synonymous_variant	1443				female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61949663G>A	V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"""placental lactogen"", ""chorionic somatomammotropin B"""	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.477C>T	17.37:g.61949663G>A						CSH2_ENST00000345366.7_Silent_p.R64R|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Silent_p.R102R	p.R159R	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN			5	628	-			159					P01243|Q0VDB1|Q14407	Silent	SNP	ENST00000392886.2	37	c.477C>T	CCDS42369.1																																																																																				0.547	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1	NM_020991		27	119	0	0	0	0.037714	0	27	119				
CYP4F24P	388514	broad.mit.edu	37	19	15881921	15881921	+	lincRNA	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr19:15881921G>A	ENST00000595525.1	+	0	1122																		p.H152H(2)									CTGTGAAGTCGTGCACCAGGC	0.522																																						ENST00000587443.2																			2	Substitution - coding silent(2)	p.H152H(2)	prostate(2)																																																0							g.chr19:15881921G>A																													19.37:g.15881921G>A								NR_033864.1						0	976	-									RNA	SNP	ENST00000595525.1	37																																																																																						0.522	LLNLR-249E10.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000472008.1			10	49	0	0	0	0.080935	0	10	49				
SIGLEC9	27180	broad.mit.edu	37	19	51630484	51630484	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr19:51630484G>C	ENST00000250360.3	+	4	1013	c.946G>C	c.(946-948)Gct>Cct	p.A316P	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.A316P	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	316	Ig-like C2-type 2.		A -> D (in dbSNP:rs273688).		cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.A316P(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GAGGGATGCAGCTGAATTCAC	0.632																																						ENST00000440804.3																			1	Substitution - Missense(1)	p.A316P(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45						c.(946-948)Gct>Cct		sialic acid binding Ig-like lectin 9							41.0	40.0	40.0					19																	51630484		2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51630484G>C	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.946G>C	19.37:g.51630484G>C	ENSP00000250360:p.Ala316Pro					SIGLEC9_ENST00000250360.3_Missense_Mutation_p.A316P	p.A316P	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	4	1013	+		all_neural(266;0.0529)	316		A -> D (in dbSNP:rs273688).	Ig-like C2-type 2.		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.946G>C	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	11.09	1.535351	0.27475	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.13089	2.62;2.62	2.3	2.3	0.28687	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.635768	0.12920	N	0.428257	T	0.10252	0.0251	L	0.29908	0.895	0.09310	N	1	B	0.25772	0.134	B	0.23574	0.047	T	0.23762	-1.0179	10	0.87932	D	0	.	7.7535	0.28911	0.0:0.0:1.0:0.0	.	316	Q9Y336	SIGL9_HUMAN	P	316	ENSP00000413861:A316P;ENSP00000250360:A316P	ENSP00000250360:A316P	A	+	1	0	SIGLEC9	56322296	0.029000	0.19370	0.002000	0.10522	0.002000	0.02628	2.226000	0.42963	1.127000	0.42034	0.407000	0.27541	GCT		0.632	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		8	45	0	0	0	0.069234	0	8	45				
DSG2	1829	broad.mit.edu	37	18	29099853	29099853	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr18:29099853G>A	ENST00000261590.8	+	3	378	c.169G>A	c.(169-171)Gct>Act	p.A57T	DSG2_ENST00000585206.1_Missense_Mutation_p.A57T	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	57	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A57T(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CGCCCCCGTGGCTCTTCGGGA	0.453																																						ENST00000261590.8																			1	Substitution - Missense(1)	p.A57T(1)	prostate(1)	breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(169-171)Gct>Act		desmoglein 2							69.0	71.0	70.0					18																	29099853		1885	4110	5995	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29099853G>A	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.169G>A	18.37:g.29099853G>A	ENSP00000261590:p.Ala57Thr					DSG2_ENST00000585206.1_Missense_Mutation_p.A57T	p.A57T	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		3	378	+			57			Cadherin 1.		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.169G>A	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784784	0.31593	.	.	ENSG00000046604	ENST00000261590	T	0.59083	0.29	5.21	-2.87	0.05700	Cadherin-like (1);	0.426837	0.16837	U	0.197512	T	0.21590	0.0520	N	0.03999	-0.3	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.30822	-0.9965	10	0.02654	T	1	.	4.6851	0.12754	0.3977:0.0:0.3116:0.2907	.	57	Q14126	DSG2_HUMAN	T	57	ENSP00000261590:A57T	ENSP00000261590:A57T	A	+	1	0	DSG2	27353851	0.020000	0.18652	0.061000	0.19648	0.929000	0.56500	-0.343000	0.07791	-0.225000	0.09913	0.561000	0.74099	GCT		0.453	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		15	70	0	0	0	0.043863	0	15	70				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	9	80	0	0	0	0.105934	0	9	80				
SORCS2	57537	broad.mit.edu	37	4	7728622	7728622	+	Missense_Mutation	SNP	G	G	A	rs370590557		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr4:7728622G>A	ENST00000507866.2	+	21	2970	c.2861G>A	c.(2860-2862)cGt>cAt	p.R954H	SORCS2_ENST00000329016.9_Missense_Mutation_p.R782H	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	954					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.R804H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						AGGGTCCTCCGTGTGCTGGGT	0.617																																						ENST00000507866.2																			1	Substitution - Missense(1)	p.R804H(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(2860-2862)cGt>cAt		sortilin-related VPS10 domain containing receptor 2		G	HIS/ARG	2,4232		0,2,2115	58.0	73.0	68.0		2861	2.5	1.0	4		68	1,8411		0,1,4205	no	missense	SORCS2	NM_020777.2	29	0,3,6320	AA,AG,GG		0.0119,0.0472,0.0237	benign	954/1160	7728622	3,12643	2117	4206	6323	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7728622G>A	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2861G>A	4.37:g.7728622G>A	ENSP00000422185:p.Arg954His					SORCS2_ENST00000329016.9_Missense_Mutation_p.R782H	p.R954H	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			21	2970	+			954					Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.2861G>A	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	G	2.316	-0.356773	0.05138	4.72E-4	1.19E-4	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.14516	2.5;2.52	4.25	2.51	0.30379	.	.	.	.	.	T	0.06005	0.0156	N	0.04508	-0.205	0.23602	N	0.997313	B;B	0.16603	0.006;0.018	B;B	0.06405	0.002;0.002	T	0.38134	-0.9675	9	0.36615	T	0.2	.	6.5334	0.22339	0.455:0.0:0.545:0.0	.	782;954	B5MED8;Q96PQ0	.;SORC2_HUMAN	H	954;782	ENSP00000422185:R954H;ENSP00000329124:R782H	ENSP00000329124:R782H	R	+	2	0	SORCS2	7779522	0.891000	0.30450	0.971000	0.41717	0.080000	0.17528	1.685000	0.37659	0.379000	0.24794	-0.396000	0.06452	CGT		0.617	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		4	47	0	0	0	0.009096	0	4	47				
PRKCG	5582	broad.mit.edu	37	19	54387493	54387493	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr19:54387493C>T	ENST00000263431.3	+	3	563	c.281C>T	c.(280-282)aCg>aTg	p.T94M	PRKCG_ENST00000542049.1_Silent_p.D18D|PRKCG_ENST00000536044.1_Missense_Mutation_p.T94M|PRKCG_ENST00000540413.1_Missense_Mutation_p.T94M	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	94					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	GGCCCCCAGACGGACGTGAGT	0.577																																						ENST00000263431.3																			0				large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(280-282)aCg>aTg		protein kinase C, gamma							73.0	68.0	69.0					19																	54387493		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54387493C>T	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.281C>T	19.37:g.54387493C>T	ENSP00000263431:p.Thr94Met					PRKCG_ENST00000536044.1_Missense_Mutation_p.T94M|PRKCG_ENST00000542049.1_Silent_p.D18D|PRKCG_ENST00000540413.1_Missense_Mutation_p.T94M	p.T94M	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	3	563	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		94					B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.281C>T	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660522	0.67586	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000419486	T;T;T	0.79141	-1.24;-0.57;-0.57	4.68	4.68	0.58851	.	.	.	.	.	D	0.84750	0.5541	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.61697	0.982;0.986;0.99;0.987	P;P;P;P	0.56514	0.707;0.8;0.608;0.772	D	0.87111	0.2185	9	0.72032	D	0.01	.	15.4645	0.75387	0.0:1.0:0.0:0.0	.	94;94;94;94	F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;KPCG_HUMAN	M	94;94;94;117	ENSP00000440541:T94M;ENSP00000443493:T94M;ENSP00000263431:T94M	ENSP00000263431:T94M	T	+	2	0	PRKCG	59079305	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.762000	0.74950	2.332000	0.79248	0.313000	0.20887	ACG		0.577	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		14	67	0	0	0	0.020292	0	14	67				
PPP2R2B	5521	broad.mit.edu	37	5	146017843	146017843	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr5:146017843G>A	ENST00000394413.3	-	6	1331	c.761C>T	c.(760-762)gCa>gTa	p.A254V	PPP2R2B_ENST00000453001.1_Missense_Mutation_p.A254V|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.A254V|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.A257V|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.A243V|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.A254V|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.A312V|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.A260V|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.A320V|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.A243V			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	254					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.A257V(1)|p.A312V(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGGCAGATGCCCGCATGTC	0.597																																						ENST00000394413.3																			2	Substitution - Missense(2)	p.A257V(1)|p.A312V(1)	prostate(2)	endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(760-762)gCa>gTa		protein phosphatase 2, regulatory subunit B, beta							131.0	100.0	110.0					5																	146017843		2203	4300	6503	SO:0001583	missense	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146017843G>A	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.761C>T	5.37:g.146017843G>A	ENSP00000377935:p.Ala254Val					PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.A320V|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.A254V|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.A260V|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.A254V|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.A257V|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.A312V|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.A254V|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.A243V|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.A243V	p.A254V			Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1331	-			254					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	c.761C>T	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787867	0.49997	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.561745	0.19336	N	0.116787	T	0.36110	0.0955	L	0.58583	1.82	0.21147	N	0.99977	B;B;B;B;B;B	0.13594	0.006;0.008;0.003;0.006;0.008;0.001	B;B;B;B;B;B	0.13407	0.005;0.003;0.003;0.005;0.009;0.002	T	0.22661	-1.0210	10	0.52906	T	0.07	-4.0546	19.2061	0.93730	0.0:0.0:1.0:0.0	.	312;260;243;320;257;254	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	V	254;243;320;254;254;254;243;257;260;312	ENSP00000377935:A254V;ENSP00000431320:A243V;ENSP00000377936:A320V;ENSP00000377933:A254V;ENSP00000349283:A254V;ENSP00000398779:A254V;ENSP00000377932:A243V;ENSP00000336591:A257V;ENSP00000421396:A260V;ENSP00000377931:A312V	ENSP00000336591:A257V	A	-	2	0	AC011357.1	145998036	0.773000	0.28580	0.878000	0.34440	0.970000	0.65996	4.255000	0.58804	2.536000	0.85505	0.650000	0.86243	GCA		0.597	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		8	68	0	0	0	0.058154	0	8	68				
DNAH7	56171	broad.mit.edu	37	2	196825327	196825327	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr2:196825327G>A	ENST00000312428.6	-	18	2648	c.2548C>T	c.(2548-2550)Cgc>Tgc	p.R850C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	850	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.R850C(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGCCTGGGGCGCAAACCAGGA	0.453																																						ENST00000312428.6																			1	Substitution - Missense(1)	p.R850C(1)	prostate(1)	NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(2548-2550)Cgc>Tgc		dynein, axonemal, heavy chain 7							124.0	126.0	125.0					2																	196825327		1935	4131	6066	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196825327G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2548C>T	2.37:g.196825327G>A	ENSP00000311273:p.Arg850Cys						p.R850C	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			18	2648	-			850			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.2548C>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952760	0.53293	.	.	ENSG00000118997	ENST00000312428	T	0.63417	-0.04	5.74	5.74	0.90152	Dynein heavy chain, domain-2 (1);	0.125121	0.53938	D	0.000044	D	0.84392	0.5462	M	0.93375	3.41	0.80722	D	1	D	0.76494	0.999	D	0.64877	0.93	D	0.87323	0.2319	10	0.59425	D	0.04	.	19.9196	0.97082	0.0:0.0:1.0:0.0	.	850	Q8WXX0	DYH7_HUMAN	C	850	ENSP00000311273:R850C	ENSP00000311273:R850C	R	-	1	0	DNAH7	196533572	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.626000	0.61269	2.708000	0.92522	0.650000	0.86243	CGC		0.453	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		4	116	0	0	0	0.014758	0	4	116				
CA12	771	broad.mit.edu	37	15	63632619	63632619	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr15:63632619G>A	ENST00000178638.3	-	7	1055	c.615C>T	c.(613-615)ttC>ttT	p.F205F	CA12_ENST00000422263.2_Silent_p.F145F|CA12_ENST00000344366.3_Silent_p.F205F	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	205					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.F205F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	CTTCAATGTTGAATCCCGGGA	0.562																																						ENST00000178638.3																			1	Substitution - coding silent(1)	p.F205F(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16						c.(613-615)ttC>ttT		carbonic anhydrase XII	Acetazolamide(DB00819)						90.0	78.0	82.0					15																	63632619		2203	4300	6503	SO:0001819	synonymous_variant	771				one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding	g.chr15:63632619G>A	AF051882	CCDS10185.1, CCDS10186.1	15q22	2004-01-19			ENSG00000074410	ENSG00000074410		"""Carbonic anhydrases"""	1371	protein-coding gene	gene with protein product		603263				9636197	Standard	NM_001218		Approved	HsT18816	uc002amc.3	O43570	OTTHUMG00000132881	ENST00000178638.3:c.615C>T	15.37:g.63632619G>A						CA12_ENST00000344366.3_Silent_p.F205F|CA12_ENST00000422263.2_Silent_p.F145F	p.F205F	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN			7	1055	-			205					B2RE24|Q53YE5|Q9BWG2	Silent	SNP	ENST00000178638.3	37	c.615C>T	CCDS10185.1																																																																																				0.562	CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256370.1	NM_001218		5	58	0	0	0	0.021553	0	5	58				
DMD	1756	broad.mit.edu	37	X	32536160	32536160	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chrX:32536160C>T	ENST00000357033.4	-	18	2463	c.2257G>A	c.(2257-2259)Gaa>Aaa	p.E753K	DMD_ENST00000378677.2_Missense_Mutation_p.E749K|DMD_ENST00000288447.4_Missense_Mutation_p.E745K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	753					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.E749K(2)|p.E748K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAGTTGCCTTCCTTCCGAAAG	0.383																																						ENST00000357033.4																			3	Substitution - Missense(3)	p.E749K(2)|p.E748K(1)	prostate(3)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(2257-2259)Gaa>Aaa		dystrophin							73.0	65.0	67.0					X																	32536160		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32536160C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2257G>A	X.37:g.32536160C>T	ENSP00000354923:p.Glu753Lys					DMD_ENST00000288447.4_Missense_Mutation_p.E745K|DMD_ENST00000378677.2_Missense_Mutation_p.E749K	p.E753K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			18	2463	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	753					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.2257G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930968	0.73327	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.72505	0.71;0.71;-0.66	5.07	4.21	0.49690	.	0.251712	0.19274	U	0.118325	T	0.67804	0.2932	M	0.63428	1.95	0.80722	D	1	P;B;P;B	0.44380	0.457;0.011;0.834;0.013	B;B;B;B	0.41723	0.129;0.007;0.365;0.012	T	0.64807	-0.6320	10	0.33141	T	0.24	.	12.4582	0.55716	0.0:0.9151:0.0:0.0849	.	745;745;753;749	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	K	745;749;753;753;630;745	ENSP00000367948:E749K;ENSP00000354923:E753K;ENSP00000288447:E745K	ENSP00000288447:E745K	E	-	1	0	DMD	32446081	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	5.505000	0.66981	0.913000	0.36797	0.583000	0.79449	GAA		0.383	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		12	18	0	0	0	0.080935	0	12	18				
DOCK5	80005	broad.mit.edu	37	8	25166414	25166414	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr8:25166414G>A	ENST00000276440.7	+	12	1209	c.1165G>A	c.(1165-1167)Gca>Aca	p.A389T		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	389					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.A389T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGTGATTGCAGCAAAGGAAGT	0.522																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			1	Substitution - Missense(1)	p.A389T(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1165-1167)Gca>Aca		dedicator of cytokinesis 5							83.0	69.0	74.0					8																	25166414		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25166414G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1165G>A	8.37:g.25166414G>A	ENSP00000276440:p.Ala389Thr						p.A389T	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	12	1209	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	389					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.1165G>A	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.245|4.245	0.044511|0.044511	0.08196|0.08196	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	T|.	0.17213|.	2.29|.	6.11|6.11	2.08|2.08	0.27032|0.27032	.|.	0.294524|.	0.38217|.	N|.	0.001768|.	T|T	0.21347|0.21347	0.0514|0.0514	N|N	0.12569|0.12569	0.235|0.235	0.19945|0.19945	N|N	0.999948|0.999948	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.06405|.	0.002;0.001|.	T|T	0.24621|0.24621	-1.0155|-1.0155	10|5	0.14656|.	T|.	0.56|.	.|.	10.1302|10.1302	0.42674|0.42674	0.2868:0.0:0.7132:0.0|0.2868:0.0:0.7132:0.0	.|.	164;389|.	Q68DL4;Q9H7D0|.	.;DOCK5_HUMAN|.	T|N	389|160	ENSP00000276440:A389T|.	ENSP00000276440:A389T|.	A|S	+|+	1|2	0|0	DOCK5|DOCK5	25222331|25222331	0.972000|0.972000	0.33761|0.33761	0.067000|0.067000	0.19924|0.19924	0.712000|0.712000	0.41017|0.41017	2.181000|2.181000	0.42547|0.42547	0.377000|0.377000	0.24735|0.24735	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.522	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		3	41	0	0	0	0.009096	0	3	41				
EPHA3	2042	broad.mit.edu	37	3	89391103	89391103	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr3:89391103C>A	ENST00000336596.2	+	5	1394	c.1169C>A	c.(1168-1170)aCc>aAc	p.T390N	EPHA3_ENST00000494014.1_Missense_Mutation_p.T390N|EPHA3_ENST00000452448.2_Missense_Mutation_p.T390N	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	390	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.T390N(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTTGGACTCACCAACACCACG	0.478										TSP Lung(6;0.00050)																												ENST00000336596.2																			2	Substitution - Missense(2)	p.T390N(2)	prostate(2)	NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(1168-1170)aCc>aAc		EPH receptor A3							107.0	93.0	98.0					3																	89391103		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89391103C>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1169C>A	3.37:g.89391103C>A	ENSP00000337451:p.Thr390Asn	TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Missense_Mutation_p.T390N|EPHA3_ENST00000452448.2_Missense_Mutation_p.T390N	p.T390N	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	5	1394	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	390			Fibronectin type-III 1.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.1169C>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054175	0.36277	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.60424	0.19;0.19;0.19	5.66	3.76	0.43208	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.457203	0.26658	N	0.023164	T	0.52693	0.1750	L	0.49571	1.57	0.40098	D	0.976334	B;B	0.18610	0.029;0.006	B;B	0.21917	0.037;0.017	T	0.51803	-0.8659	9	.	.	.	.	16.8533	0.86000	0.0:0.76:0.24:0.0	.	390;390	P29320;P29320-2	EPHA3_HUMAN;.	N	390	ENSP00000337451:T390N;ENSP00000399926:T390N;ENSP00000419190:T390N	.	T	+	2	0	EPHA3	89473793	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	1.342000	0.33919	1.518000	0.48934	0.655000	0.94253	ACC		0.478	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		4	71	1	0	0.00909568	0.009096	0.0101982	4	71				
SLC4A1	6521	broad.mit.edu	37	17	42333173	42333173	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr17:42333173G>A	ENST00000262418.6	-	14	1823	c.1668C>T	c.(1666-1668)aaC>aaT	p.N556N	AC003043.1_ENST00000597382.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	556	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.N556N(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCATCAACACGTTGTAGTTAT	0.532																																						ENST00000262418.6																			1	Substitution - coding silent(1)	p.N556N(1)	prostate(1)	central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.(1666-1668)aaC>aaT		solute carrier family 4 (anion exchanger), member 1							196.0	186.0	189.0					17																	42333173		2203	4300	6503	SO:0001819	synonymous_variant	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42333173G>A		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1668C>T	17.37:g.42333173G>A							p.N556N	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	14	1823	-		Breast(137;0.014)|Prostate(33;0.0181)	556			Membrane (anion exchange).		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	ENST00000262418.6	37	c.1668C>T	CCDS11481.1																																																																																				0.532	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		25	131	0	0	0	0.034045	0	25	131				
CLASP2	23122	broad.mit.edu	37	3	33602330	33602330	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr3:33602330G>C	ENST00000468888.2	-	28	2970	c.2924C>G	c.(2923-2925)gCa>gGa	p.A975G	CLASP2_ENST00000480013.1_Missense_Mutation_p.A754G|CLASP2_ENST00000359576.5_Missense_Mutation_p.A966G|CLASP2_ENST00000307312.7_Missense_Mutation_p.A456G|CLASP2_ENST00000461133.3_Missense_Mutation_p.A734G|CLASP2_ENST00000399362.4_Missense_Mutation_p.A974G|CLASP2_ENST00000539981.1_Missense_Mutation_p.A744G			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	755	Interaction with RSN and localization to the Golgi and kinetochores.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)	p.A967G(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CTGAACTTTTGCCTGAACAGA	0.338																																						ENST00000399362.4																			1	Substitution - Missense(1)	p.A967G(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(2920-2922)gCa>gGa		cytoplasmic linker associated protein 2							198.0	195.0	196.0					3																	33602330		1825	4097	5922	SO:0001583	missense	23122							g.chr3:33602330G>C	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2924C>G	3.37:g.33602330G>C	ENSP00000419974:p.Ala975Gly					CLASP2_ENST00000480013.1_Missense_Mutation_p.A754G|CLASP2_ENST00000307312.7_Missense_Mutation_p.A456G|CLASP2_ENST00000468888.2_Missense_Mutation_p.A975G|CLASP2_ENST00000539981.1_Missense_Mutation_p.A744G|CLASP2_ENST00000461133.3_Missense_Mutation_p.A734G|CLASP2_ENST00000359576.5_Missense_Mutation_p.A966G	p.A974G	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			28	3274	-			976					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.2921C>G		.	.	.	.	.	.	.	.	.	.	G	25.1	4.602670	0.87157	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133	T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.62	5.62	0.85841	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75199	0.3817	L	0.32530	0.975	0.80722	D	1	D;D;P	0.76494	0.999;0.998;0.803	D;D;P	0.80764	0.993;0.994;0.573	T	0.73014	-0.4116	10	0.37606	T	0.19	-22.908	19.6764	0.95936	0.0:0.0:1.0:0.0	.	755;966;974	O75122;F5H604;E7ERI8	CLAP2_HUMAN;.;.	G	975;974;966;456;744;754;734	ENSP00000419974:A975G;ENSP00000382297:A974G;ENSP00000352581:A966G;ENSP00000304743:A456G;ENSP00000439039:A744G;ENSP00000417518:A754G;ENSP00000419305:A734G	ENSP00000304743:A456G	A	-	2	0	CLASP2	33577334	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.496000	0.97967	2.660000	0.90430	0.655000	0.94253	GCA		0.338	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		31	177	0	0	0	0.054565	0	31	177				
ADAM29	11086	broad.mit.edu	37	4	175897858	175897858	+	Silent	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr4:175897858C>T	ENST00000359240.3	+	5	1852	c.1182C>T	c.(1180-1182)atC>atT	p.I394I	ADAM29_ENST00000445694.1_Silent_p.I394I|ADAM29_ENST00000514159.1_Silent_p.I394I|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Silent_p.I394I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	394					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I394I(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CAAAGGACATCTTTAATGTGA	0.393																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			2	Substitution - coding silent(2)	p.I394I(2)	prostate(2)	NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(1180-1182)atC>atT		ADAM metallopeptidase domain 29							214.0	209.0	211.0					4																	175897858		2203	4300	6503	SO:0001819	synonymous_variant	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897858C>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1182C>T	4.37:g.175897858C>T						ADAM29_ENST00000514159.1_Silent_p.I394I|ADAM29_ENST00000404450.4_Silent_p.I394I|ADAM29_ENST00000445694.1_Silent_p.I394I	p.I394I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1852	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	394					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	c.1182C>T	CCDS3823.1																																																																																				0.393	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				28	129	0	0	0	0.030593	0	28	129				
MLLT4	4301	broad.mit.edu	37	6	168297653	168297653	+	Splice_Site	SNP	G	G	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr6:168297653G>T	ENST00000447894.2	+	10	1317		c.e10+1		MLLT4_ENST00000344191.4_Splice_Site|MLLT4_ENST00000392108.3_Splice_Site|MLLT4_ENST00000366806.2_Splice_Site|MLLT4_ENST00000392112.1_Splice_Site|MLLT4_ENST00000351017.4_Splice_Site|MLLT4_ENST00000400822.3_Splice_Site			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.?(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTCTATCCAGGTACGTAGTCT	0.433			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		2	Unknown(2)	p.?(2)	prostate(2)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.e10+1		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							89.0	84.0	86.0					6																	168297653		2203	4300	6503	SO:0001630	splice_region_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168297653G>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.1317+1G>T	6.37:g.168297653G>T						MLLT4_ENST00000447894.2_Splice_Site|MLLT4_ENST00000392108.3_Splice_Site|MLLT4_ENST00000392112.1_Splice_Site|MLLT4_ENST00000400822.3_Splice_Site|MLLT4_ENST00000351017.4_Splice_Site|MLLT4_ENST00000344191.4_Splice_Site				P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	10	1459	+		Breast(66;1.07e-05)|Ovarian(120;0.024)						O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Splice_Site	SNP	ENST00000447894.2	37			.	.	.	.	.	.	.	.	.	.	G	19.93	3.917946	0.73098	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894;ENST00000423229	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8669	0.92296	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLLT4	168040502	1.000000	0.71417	0.995000	0.50966	0.691000	0.40173	9.467000	0.97671	2.447000	0.82792	0.591000	0.81541	.		0.433	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936	Intron	5	22	1	0	0.000602214	0.014758	0.000718772	5	22				
HERC2	8924	broad.mit.edu	37	15	28386775	28386775	+	Splice_Site	SNP	G	G	A	rs149707599	byFrequency	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr15:28386775G>A	ENST00000261609.7	-	78	11926	c.11818C>T	c.(11818-11820)Cga>Tga	p.R3940*		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.R3940*(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCATCTGGTCGCCTACAATAC	0.478																																						ENST00000261609.7																			2	Substitution - Nonsense(2)	p.R3940*(2)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.e78-1		HECT and RLD domain containing E3 ubiquitin protein ligase 2							110.0	107.0	108.0					15																	28386775		2203	4300	6503	SO:0001630	splice_region_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28386775G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11817-1C>T	15.37:g.28386775G>A							p.R3940_splice	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	78	11926	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3940						Splice_Site	SNP	ENST00000261609.7	37	c.11816_splice	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	52	19.589338	0.99921	.	.	ENSG00000128731	ENST00000261609	.	.	.	5.69	1.49	0.22878	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.458	0.38767	0.0645:0.0:0.5784:0.3571	.	.	.	.	X	3940	.	ENSP00000261609:R3940X	R	-	1	2	HERC2	26060370	0.989000	0.36119	0.927000	0.36925	0.295000	0.27426	0.877000	0.28106	0.022000	0.15160	0.556000	0.70494	CGA		0.478	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	Nonsense_Mutation	29	119	0	0	0	0.030593	0	29	119				
GALNTL5	168391	broad.mit.edu	37	7	151664547	151664547	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr7:151664547G>C	ENST00000392800.2	+	2	470	c.216G>C	c.(214-216)agG>agC	p.R72S	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R72S	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	72					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.R72S(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TAGTCAAAAGGACTGATGAAG	0.373																																						ENST00000392800.2																			1	Substitution - Missense(1)	p.R72S(1)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32						c.(214-216)agG>agC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5							79.0	83.0	82.0					7																	151664547		2203	4300	6503	SO:0001583	missense	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151664547G>C	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.216G>C	7.37:g.151664547G>C	ENSP00000376548:p.Arg72Ser					GALNTL5_ENST00000431418.2_Missense_Mutation_p.R72S	p.R72S	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	2	470	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	72					Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	c.216G>C	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	G	3.114	-0.182007	0.06340	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.58652	0.32;0.32	4.1	-8.2	0.01045	.	7745.180000	0.00166	N	0.000000	T	0.31979	0.0814	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19910	-1.0291	10	0.25106	T	0.35	.	2.4594	0.04538	0.1424:0.2518:0.1415:0.4643	.	72	Q7Z4T8	GLTL5_HUMAN	S	72	ENSP00000392582:R72S;ENSP00000376548:R72S	ENSP00000376548:R72S	R	+	3	2	GALNTL5	151295480	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.389000	0.02530	-2.868000	0.00324	-0.257000	0.10917	AGG		0.373	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		4	39	0	0	0	0.014758	0	4	39				
PACSIN2	11252	broad.mit.edu	37	22	43267420	43267420	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr22:43267420G>A	ENST00000263246.3	-	11	1605	c.1404C>T	c.(1402-1404)cgC>cgT	p.R468R	PACSIN2_ENST00000403744.3_Silent_p.R468R|PACSIN2_ENST00000337959.4_Silent_p.R427R|PACSIN2_ENST00000407585.1_Silent_p.R427R|PACSIN2_ENST00000402229.1_Silent_p.R468R	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	468	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)	p.R468R(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CGTTGTCCAAGCGTCCCTTGC	0.622																																						ENST00000263246.3																			1	Substitution - coding silent(1)	p.R468R(1)	prostate(1)	NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(1402-1404)cgC>cgT		protein kinase C and casein kinase substrate in neurons 2							112.0	128.0	123.0					22																	43267420		2162	4269	6431	SO:0001819	synonymous_variant	11252				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity	g.chr22:43267420G>A	AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"""syndapin II"""	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.1404C>T	22.37:g.43267420G>A						PACSIN2_ENST00000407585.1_Silent_p.R427R|PACSIN2_ENST00000403744.3_Silent_p.R468R|PACSIN2_ENST00000402229.1_Silent_p.R468R|PACSIN2_ENST00000496919.1_Intron|PACSIN2_ENST00000337959.4_Silent_p.R427R	p.R468R	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN			11	1605	-		Glioma(61;0.222)	468			SH3.		O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Silent	SNP	ENST00000263246.3	37	c.1404C>T	CCDS43023.1																																																																																				0.622	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319665.1	NM_007229		10	45	0	0	0	0.080935	0	10	45				
TMEM200A	114801	broad.mit.edu	37	6	130762197	130762197	+	Silent	SNP	C	C	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr6:130762197C>A	ENST00000296978.3	+	3	1501	c.630C>A	c.(628-630)atC>atA	p.I210I	TMEM200A_ENST00000545622.1_Silent_p.I210I|TMEM200A_ENST00000392429.1_Silent_p.I210I	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	210						integral component of membrane (GO:0016021)		p.I210I(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CAAATACGATCGCCTCTTTCT	0.468																																						ENST00000392429.1																			2	Substitution - coding silent(2)	p.I210I(2)	prostate(2)	NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(628-630)atC>atA		transmembrane protein 200A							71.0	68.0	69.0					6																	130762197		2203	4300	6503	SO:0001819	synonymous_variant	114801					integral to membrane		g.chr6:130762197C>A	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.630C>A	6.37:g.130762197C>A						TMEM200A_ENST00000296978.3_Silent_p.I210I|TMEM200A_ENST00000545622.1_Silent_p.I210I	p.I210I	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	2	3008	+			210					Q96PX5	Silent	SNP	ENST00000296978.3	37	c.630C>A	CCDS5140.1																																																																																				0.468	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		3	38	1	0	0.004672	0.004672	0.00531889	3	38				
GAD2	2572	broad.mit.edu	37	10	26575384	26575384	+	Silent	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr10:26575384C>T	ENST00000376261.3	+	13	1850	c.1347C>T	c.(1345-1347)caC>caT	p.H449H	GAD2_ENST00000259271.3_Silent_p.H449H	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	449					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.H449H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCGGACGCCACGTTGATGTTT	0.443																																						ENST00000376261.3																			1	Substitution - coding silent(1)	p.H449H(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1345-1347)caC>caT		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						122.0	100.0	108.0					10																	26575384		2203	4300	6503	SO:0001819	synonymous_variant	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26575384C>T	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1347C>T	10.37:g.26575384C>T						GAD2_ENST00000259271.3_Silent_p.H449H	p.H449H	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			13	1850	+			449					Q9UD87	Silent	SNP	ENST00000376261.3	37	c.1347C>T	CCDS7149.1																																																																																				0.443	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		9	61	0	0	0	0.058154	0	9	61				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	69	0	0	0	0.014758	0	3	69				
SLC37A4	2542	broad.mit.edu	37	11	118900037	118900037	+	Missense_Mutation	SNP	A	A	C	rs528095472		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr11:118900037A>C	ENST00000545985.1	-	3	799	c.43T>G	c.(43-45)Tca>Gca	p.S15A	SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000538950.1_Intron|SLC37A4_ENST00000330775.7_Missense_Mutation_p.S15A|SLC37A4_ENST00000357590.5_Missense_Mutation_p.S15A	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	15					carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphate transmembrane transporter activity (GO:0015152)|transporter activity (GO:0005215)	p.S15A(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		AACATGGCTGAGAAGATCACA	0.517																																						ENST00000545985.1																			1	Substitution - Missense(1)	p.S15A(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6						c.(43-45)Tca>Gca		solute carrier family 37 (glucose-6-phosphate transporter), member 4							86.0	85.0	85.0					11																	118900037		2038	4186	6224	SO:0001583	missense	2542				glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity	g.chr11:118900037A>C	Y15409		11q23.3	2014-09-17	2007-03-28	2003-09-10		ENSG00000137700		"""Solute carriers"""	4061	protein-coding gene	gene with protein product		602671	"""glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1"""	G6PT1, G6PT2, G6PT3		9428641, 9463334	Standard	NM_001164277		Approved	GSD1b, GSD1c, GSD1d	uc010ryt.1	O43826		ENST00000545985.1:c.43T>G	11.37:g.118900037A>C	ENSP00000475241:p.Ser15Ala					SLC37A4_ENST00000330775.7_Missense_Mutation_p.S15A|SLC37A4_ENST00000538950.1_Intron|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000357590.5_Missense_Mutation_p.S15A	p.S15A	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)	3	799	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)	15					O96016|Q5J7V4|Q9UI19|Q9UNS4	Missense_Mutation	SNP	ENST00000545985.1	37	c.43T>G																																																																																					0.517	SLC37A4-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001467		4	24	0	0	0	0.014758	0	4	24				
MFN2	9927	broad.mit.edu	37	1	12058937	12058937	+	Splice_Site	SNP	T	T	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr1:12058937T>A	ENST00000235329.5	+	7	1030		c.e7+2		MFN2_ENST00000444836.1_Splice_Site	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2						apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)	p.?(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		ATGCAGACGGTAACTCCTCCT	0.577																																						ENST00000235329.5																			1	Unknown(1)	p.?(1)	prostate(1)	endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20						c.e7+2		mitofusin 2							202.0	171.0	181.0					1																	12058937		2203	4300	6503	SO:0001630	splice_region_variant	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12058937T>A	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.708+2T>A	1.37:g.12058937T>A						MFN2_ENST00000444836.1_Splice_Site		NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	7	1030	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)						A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Splice_Site	SNP	ENST00000235329.5	37		CCDS30587.1	.	.	.	.	.	.	.	.	.	.	T	13.32	2.201407	0.38905	.	.	ENSG00000116688	ENST00000444836;ENST00000235329	.	.	.	4.9	3.75	0.43078	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2221	0.43203	0.1486:0.0:0.0:0.8514	.	.	.	.	.	-1	.	.	.	+	.	.	MFN2	11981524	1.000000	0.71417	0.949000	0.38748	0.414000	0.31173	7.666000	0.83877	0.704000	0.31869	-0.336000	0.08194	.		0.577	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874	Intron	14	120	0	0	0	0.105934	0	14	120				
ARHGAP30	257106	broad.mit.edu	37	1	161022538	161022538	+	Silent	SNP	T	T	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr1:161022538T>C	ENST00000368013.3	-	7	1034	c.714A>G	c.(712-714)tcA>tcG	p.S238S	ARHGAP30_ENST00000368015.1_Silent_p.S61S|ARHGAP30_ENST00000368016.3_Silent_p.S238S	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	238					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)	p.S238S(2)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CGGGGCTGCCTGATGCCCGGG	0.607																																						ENST00000368013.3																			2	Substitution - coding silent(2)	p.S238S(2)	prostate(2)	breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(712-714)tcA>tcG		Rho GTPase activating protein 30							59.0	61.0	60.0					1																	161022538		2203	4300	6503	SO:0001819	synonymous_variant	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161022538T>C	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.714A>G	1.37:g.161022538T>C						ARHGAP30_ENST00000368016.3_Silent_p.S238S|ARHGAP30_ENST00000368015.1_Silent_p.S61S	p.S238S	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		7	1034	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		238					Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Silent	SNP	ENST00000368013.3	37	c.714A>G	CCDS30918.1																																																																																				0.607	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		3	63	0	0	0	0.004672	0	3	63				
ATXN7L3	56970	broad.mit.edu	37	17	42274671	42274671	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr17:42274671G>A	ENST00000454077.2	-	3	280	c.281C>T	c.(280-282)gCc>gTc	p.A94V	ATXN7L3_ENST00000389384.4_Missense_Mutation_p.A94V|CTB-175E5.7_ENST00000586560.1_RNA|ATXN7L3_ENST00000593073.1_Intron	NM_020218.1	NP_064603.1			ataxin 7-like 3											kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCGGGAGGCGGCAATGCTGCG	0.597																																						ENST00000389384.4																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						c.(280-282)gCc>gTc		ataxin 7-like 3							83.0	96.0	92.0					17																	42274671		2047	4190	6237	SO:0001583	missense	56970				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding	g.chr17:42274671G>A	AK056002	CCDS42345.1, CCDS45697.1	17q21	2010-03-10			ENSG00000087152	ENSG00000087152			25416	protein-coding gene	gene with protein product						15115762	Standard	NM_001098833		Approved	DKFZp761G2113	uc002ifz.3	Q14CW9		ENST00000454077.2:c.281C>T	17.37:g.42274671G>A	ENSP00000397259:p.Ala94Val					ATXN7L3_ENST00000454077.2_Missense_Mutation_p.A94V|ATXN7L3_ENST00000593073.1_Intron	p.A94V	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	3	589	-		Breast(137;0.00765)|Prostate(33;0.0181)	94						Missense_Mutation	SNP	ENST00000454077.2	37	c.281C>T	CCDS45697.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333869	0.81801	.	.	ENSG00000087152	ENST00000454077;ENST00000389384	.	.	.	4.75	4.75	0.60458	.	0.000000	0.64402	D	0.000001	T	0.76183	0.3952	M	0.74258	2.255	0.58432	D	0.999997	D;D	0.64830	0.975;0.994	P;P	0.60789	0.85;0.879	T	0.78145	-0.2318	9	0.46703	T	0.11	.	16.5408	0.84384	0.0:0.0:1.0:0.0	.	94;94	Q14CW9;Q14CW9-2	AT7L3_HUMAN;.	V	94	.	ENSP00000374035:A94V	A	-	2	0	ATXN7L3	39630197	1.000000	0.71417	0.927000	0.36925	0.902000	0.53008	9.086000	0.94088	2.192000	0.70111	0.655000	0.94253	GCC		0.597	ATXN7L3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457724.1			4	139	0	0	0	0.014758	0	4	139				
HOXB3	3213	broad.mit.edu	37	17	46628435	46628435	+	Missense_Mutation	SNP	G	G	T	rs574439147	byFrequency	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr17:46628435G>T	ENST00000470495.1	-	2	2004	c.557C>A	c.(556-558)gCg>gAg	p.A186E	HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.A54E|HOXB3_ENST00000476342.1_Missense_Mutation_p.A186E|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.A186E|HOXB3_ENST00000472863.1_Missense_Mutation_p.A113E|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000311626.4_Missense_Mutation_p.A186E|HOXB3_ENST00000489475.1_Missense_Mutation_p.A113E|HOXB3_ENST00000490677.1_Missense_Mutation_p.A52E|HOXB3_ENST00000485909.2_Missense_Mutation_p.A54E|HOXB-AS1_ENST00000508688.1_RNA			P14651	HXB3_HUMAN	homeobox B3	186					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A186E(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CTTGGACGCCGCCGACCCCGG	0.751																																						ENST00000470495.1																			1	Substitution - Missense(1)	p.A186E(1)	prostate(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(556-558)gCg>gAg		homeobox B3							26.0	29.0	28.0					17																	46628435		2202	4298	6500	SO:0001583	missense	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46628435G>T		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.557C>A	17.37:g.46628435G>T	ENSP00000417207:p.Ala186Glu					HOXB3_ENST00000476342.1_Missense_Mutation_p.A186E|HOXB3_ENST00000485909.2_Missense_Mutation_p.A54E|HOXB3_ENST00000460160.1_Missense_Mutation_p.A54E|HOXB3_ENST00000472863.1_Missense_Mutation_p.A113E|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.A52E|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000489475.1_Missense_Mutation_p.A113E|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000311626.4_Missense_Mutation_p.A186E|HOXB3_ENST00000498678.1_Missense_Mutation_p.A186E	p.A186E			P14651	HXB3_HUMAN			2	2004	-			186					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation	SNP	ENST00000470495.1	37	c.557C>A	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174477	0.57692	.	.	ENSG00000120093	ENST00000470495;ENST00000472863;ENST00000311626;ENST00000498678;ENST00000490677;ENST00000460160;ENST00000485909;ENST00000489475;ENST00000476342	D;D;D;D;T;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-0.93;-1.55;-1.55;-2.04;-2.04	4.09	3.09	0.35607	Homeodomain-related (1);Homeobox (1);	0.199562	0.43260	D	0.000584	T	0.80237	0.4586	L	0.46819	1.47	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.76323	-0.3001	10	0.46703	T	0.11	.	13.3674	0.60692	0.0:0.0:0.8412:0.1588	.	186	P14651	HXB3_HUMAN	E	186;113;186;186;52;54;54;113;186	ENSP00000417207:A186E;ENSP00000419676:A113E;ENSP00000308252:A186E;ENSP00000420595:A186E;ENSP00000449977:A52E;ENSP00000418035:A54E;ENSP00000438747:A54E;ENSP00000418729:A113E;ENSP00000418892:A186E	ENSP00000308252:A186E	A	-	2	0	HOXB3	43983434	0.997000	0.39634	0.983000	0.44433	0.977000	0.68977	8.212000	0.89756	1.042000	0.40150	0.655000	0.94253	GCG		0.751	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			9	56	1	0	2.74318e-10	0.058154	3.49992e-10	9	56				
GRIK3	2899	broad.mit.edu	37	1	37324731	37324731	+	Missense_Mutation	SNP	C	C	T	rs569112734		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr1:37324731C>T	ENST00000373091.3	-	7	1098	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	GRIK3_ENST00000462621.1_5'UTR|GRIK3_ENST00000373093.4_Missense_Mutation_p.R361H	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	361					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.R361H(2)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GTTCATGAAGCGGCCGCCAAA	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		18567	0.0		0.0	False		,,,				2504	0.001					ENST00000373091.3																			2	Substitution - Missense(2)	p.R361H(2)	prostate(1)|lung(1)	breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(1081-1083)cGc>cAc		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						77.0	81.0	80.0					1																	37324731		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37324731C>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1082G>A	1.37:g.37324731C>T	ENSP00000362183:p.Arg361His					GRIK3_ENST00000462621.1_5'UTR|GRIK3_ENST00000373093.4_Missense_Mutation_p.R361H	p.R361H	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			7	1098	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	361					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.1082G>A	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	35	5.578993	0.96565	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.83163	-1.69;-1.69	5.68	5.68	0.88126	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89037	0.6601	M	0.71581	2.175	0.80722	D	1	D;D	0.55605	0.972;0.963	P;P	0.55545	0.778;0.703	D	0.88965	0.3396	10	0.54805	T	0.06	.	19.7849	0.96432	0.0:1.0:0.0:0.0	.	361;361	A9Z1Z8;Q13003	.;GRIK3_HUMAN	H	361	ENSP00000362183:R361H;ENSP00000362185:R361H	ENSP00000362183:R361H	R	-	2	0	GRIK3	37097318	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.785000	0.68998	2.671000	0.90904	0.650000	0.86243	CGC		0.627	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		20	88	0	0	0	0.043863	0	20	88				
LRRC49	54839	broad.mit.edu	37	15	71329574	71329574	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr15:71329574A>G	ENST00000260382.5	+	15	2020	c.1760A>G	c.(1759-1761)aAc>aGc	p.N587S	LRRC49_ENST00000560158.2_Missense_Mutation_p.N275S|LRRC49_ENST00000560691.1_Missense_Mutation_p.N293S|LRRC49_ENST00000443425.2_Missense_Mutation_p.N543S|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.N577S|LRRC49_ENST00000560369.1_Missense_Mutation_p.N592S	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	587						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.N587S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GGTATTATCAACGAAGAAAAT	0.318																																						ENST00000260382.5																			1	Substitution - Missense(1)	p.N587S(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.(1759-1761)aAc>aGc		leucine rich repeat containing 49							85.0	93.0	91.0					15																	71329574		2199	4295	6494	SO:0001583	missense	54839					cytoplasm|microtubule		g.chr15:71329574A>G		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1760A>G	15.37:g.71329574A>G	ENSP00000260382:p.Asn587Ser					LRRC49_ENST00000560691.1_Missense_Mutation_p.N293S|LRRC49_ENST00000544974.2_Missense_Mutation_p.N577S|LRRC49_ENST00000443425.2_Missense_Mutation_p.N543S|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.N592S|LRRC49_ENST00000560158.2_Missense_Mutation_p.N275S	p.N587S	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN			15	2020	+			587					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.1760A>G	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	A	0.837	-0.743241	0.03088	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.33438	1.41;1.42;1.41	5.04	-6.24	0.02046	.	0.634375	0.17060	N	0.188588	T	0.11580	0.0282	N	0.03115	-0.41	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0	T	0.19943	-1.0290	10	0.13470	T	0.59	-0.4476	17.7229	0.88357	0.2339:0.0:0.7661:0.0	.	592;559;543;587;577	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	S	577;587;543;559	ENSP00000439600:N577S;ENSP00000260382:N587S;ENSP00000414065:N543S	ENSP00000260382:N587S	N	+	2	0	LRRC49	69116628	0.100000	0.21855	0.026000	0.17262	0.927000	0.56198	-0.553000	0.06012	-1.105000	0.03011	0.533000	0.62120	AAC		0.318	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		4	114	0	0	0	0.009096	0	4	114				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		4	58	0	0	0	0.014758	0	4	58				
PDXDC2P	283970	broad.mit.edu	37	16	70010511	70010511	+	RNA	SNP	A	A	G			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr16:70010511A>G	ENST00000531894.1	-	0	3872				RP11-419C5.2_ENST00000525562.1_RNA	NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)	p.I256T(2)									GTTATCAGTTATAGAATGTTG	0.498																																						ENST00000532298.1																			2	Substitution - Missense(2)	p.I256T(2)	prostate(2)	breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						c.(766-768)aTa>aCa																																								0							g.chr16:70010511A>G			16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70010511A>G						PDXDC2P_ENST00000531894.1_RNA	p.I256T							7	766	-								A8K9Z5	Missense_Mutation	SNP	ENST00000531894.1	37	c.767T>C		.	.	.	.	.	.	.	.	.	.	.	9.134	1.012196	0.19277	.	.	ENSG00000226232	ENST00000532298	T	0.54866	0.55	.	.	.	.	.	.	.	.	T	0.52677	0.1749	.	.	.	.	.	.	.	.	.	.	.	.	T	0.61277	-0.7095	3	0.87932	D	0	.	.	.	.	.	.	.	.	T	256	ENSP00000448651:I256T	ENSP00000448651:I256T	I	-	2	0	RP11-419C5.2	68568012	.	.	0.506000	0.27664	0.222000	0.24845	.	.	0.064000	0.16427	0.063000	0.15292	ATA		0.498	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000395258.1			8	46	0	0	0	0.047766	0	8	46				
JUND	3727	broad.mit.edu	37	19	18391297	18391297	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr19:18391297T>C	ENST00000252818.3	-	1	1135	c.998A>G	c.(997-999)aAc>aGc	p.N333S	MIR3188_ENST00000583494.1_RNA	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	333					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|circadian rhythm (GO:0007623)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|nucleus (GO:0005634)|protein complex (GO:0043234)	double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.N289S(1)		lung(2)|prostate(1)	3						GCAGCCGCTGTTGACGTGGCT	0.706																																						ENST00000252818.3																			1	Substitution - Missense(1)	p.N289S(1)	prostate(1)	lung(2)|prostate(1)	3						c.(997-999)aAc>aGc		jun D proto-oncogene							10.0	11.0	11.0					19																	18391297		2188	4276	6464	SO:0001583	missense	3727				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr19:18391297T>C		CCDS32959.1	19p13.2	2013-01-10				ENSG00000130522		"""basic leucine zipper proteins"""	6206	protein-coding gene	gene with protein product	"""transcription factor jun-D"", ""JunD-FL isoform"", ""activator protein 1"""	165162				2112242, 1903194	Standard	NM_005354		Approved	AP-1	uc002nip.2	P17535		ENST00000252818.3:c.998A>G	19.37:g.18391297T>C	ENSP00000252818:p.Asn333Ser						p.N333S	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN			1	1135	-			333					Q53EK9	Missense_Mutation	SNP	ENST00000252818.3	37	c.998A>G	CCDS32959.1	.	.	.	.	.	.	.	.	.	.	.	10.08	1.253437	0.22965	.	.	ENSG00000130522	ENST00000252818	T	0.22945	1.93	3.2	3.2	0.36748	.	0.055387	0.64402	U	0.000002	T	0.16938	0.0407	L	0.37630	1.12	0.40612	D	0.981681	B	0.32781	0.384	B	0.27262	0.078	T	0.07868	-1.0750	10	0.27082	T	0.32	.	9.7586	0.40519	0.0:0.0:0.0:1.0	.	333	P17535	JUND_HUMAN	S	333	ENSP00000252818:N333S	ENSP00000252818:N333S	N	-	2	0	JUND	18252297	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.063000	0.30567	1.465000	0.48006	0.375000	0.23000	AAC		0.706	JUND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466318.2	NM_005354		5	9	0	0	0	0.014758	0	5	9				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	67	0	0	0	0.009096	0	3	67				
CHIA	27159	broad.mit.edu	37	1	111854851	111854851	+	Missense_Mutation	SNP	C	C	A	rs149356213	byFrequency	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr1:111854851C>A	ENST00000369740.1	+	4	198	c.95C>A	c.(94-96)gCc>gAc	p.A32D	CHIA_ENST00000430615.1_Intron|CHIA_ENST00000353665.6_Intron|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000343320.6_Missense_Mutation_p.A32D|CHIA_ENST00000451398.2_Intron	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	32					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)	p.A32D(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		ACCAACTGGGCCCAGTACCGG	0.582																																						ENST00000369740.1																			1	Substitution - Missense(1)	p.A32D(1)	prostate(1)	central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23						c.(94-96)gCc>gAc		chitinase, acidic							67.0	71.0	70.0					1																	111854851		2110	4230	6340	SO:0001583	missense	27159				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	g.chr1:111854851C>A	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.95C>A	1.37:g.111854851C>A	ENSP00000358755:p.Ala32Asp					CHIA_ENST00000451398.2_Intron|CHIA_ENST00000353665.6_Intron|CHIA_ENST00000343320.6_Missense_Mutation_p.A32D|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_Intron	p.A32D	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	4	198	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	32					Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	c.95C>A	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857960	0.91433	.	.	ENSG00000134216	ENST00000369740;ENST00000343320	T;T	0.04454	3.62;3.62	5.08	5.08	0.68730	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.248234	0.25666	U	0.029101	T	0.16727	0.0402	M	0.87097	2.86	0.80722	D	1	P	0.49447	0.924	P	0.61275	0.886	T	0.00288	-1.1845	10	0.66056	D	0.02	-12.4651	16.3361	0.83062	0.0:1.0:0.0:0.0	.	32	Q9BZP6	CHIA_HUMAN	D	32	ENSP00000358755:A32D;ENSP00000341828:A32D	ENSP00000341828:A32D	A	+	2	0	CHIA	111656374	0.993000	0.37304	0.999000	0.59377	0.981000	0.71138	1.545000	0.36169	2.506000	0.84524	0.655000	0.94253	GCC		0.582	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			5	97	1	0	1.23904e-05	0.014758	1.5031e-05	5	97				
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C	rs371325185	byFrequency	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398													g|||	29	0.00579073	0.0008	0.0072	5008	,	,		22210	0.002		0.0109	False		,,,				2504	0.0102					ENST00000418868.1																			0																																																			0							g.chr3:197348739G>C																													3.37:g.197348739G>C								NR_003266.2						0	520	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.398	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			3	82	0	0	0	0.029380	0	3	82				
MOXD1	26002	broad.mit.edu	37	6	132641814	132641814	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr6:132641814A>G	ENST00000367963.3	-	9	1437	c.1319T>C	c.(1318-1320)aTt>aCt	p.I440T	MOXD1_ENST00000336749.3_Missense_Mutation_p.I372T|MOXD1_ENST00000489128.1_5'UTR	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	440						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)	p.I440T(1)|p.I372T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		ACACTCAGTAATTAGGTTATC	0.308																																						ENST00000367963.3																			2	Substitution - Missense(2)	p.I440T(1)|p.I372T(1)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37						c.(1318-1320)aTt>aCt		monooxygenase, DBH-like 1							73.0	73.0	73.0					6																	132641814		2203	4300	6503	SO:0001583	missense	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132641814A>G	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.1319T>C	6.37:g.132641814A>G	ENSP00000356940:p.Ile440Thr					MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Missense_Mutation_p.I372T	p.I440T	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	9	1437	-	Breast(56;0.0495)		440					Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	c.1319T>C	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	A	15.92	2.974684	0.53720	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.76968	-1.06;-1.06	5.58	5.58	0.84498	PHM/PNGase F domain (1);Copper type II, ascorbate-dependent monooxygenase-like, C-terminal (1);	0.058074	0.64402	D	0.000003	T	0.73024	0.3534	L	0.47078	1.49	0.80722	D	1	B;P	0.49559	0.118;0.925	B;P	0.49752	0.217;0.621	T	0.77362	-0.2616	10	0.62326	D	0.03	-22.7767	15.7142	0.77655	1.0:0.0:0.0:0.0	.	440;372	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	T	440;372	ENSP00000356940:I440T;ENSP00000336998:I372T	ENSP00000336998:I372T	I	-	2	0	MOXD1	132683507	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.373000	0.79623	2.244000	0.73946	0.460000	0.39030	ATT		0.308	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		6	24	0	0	0	0.021553	0	6	24				
TUBB1	81027	broad.mit.edu	37	20	57598857	57598857	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr20:57598857G>C	ENST00000217133.1	+	4	644	c.375G>C	c.(373-375)gaG>gaC	p.E125D		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	125					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.E125D(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	ACGAGAGTGAGAGCTGTGACT	0.602																																						ENST00000217133.1																			2	Substitution - Missense(2)	p.E125D(2)	prostate(2)	endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16						c.(373-375)gaG>gaC		tubulin, beta 1 class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)						91.0	99.0	96.0					20																	57598857		2203	4300	6503	SO:0001583	missense	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57598857G>C	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.375G>C	20.37:g.57598857G>C	ENSP00000217133:p.Glu125Asp						p.E125D	NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		4	644	+	all_lung(29;0.00711)		125						Missense_Mutation	SNP	ENST00000217133.1	37	c.375G>C	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245667	0.59103	.	.	ENSG00000101162	ENST00000217133	T	0.73047	-0.71	5.39	4.44	0.53790	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	T	0.82051	0.4953	M	0.81179	2.53	0.53688	D	0.99997	P	0.51057	0.941	D	0.66196	0.942	T	0.83316	-0.0020	10	0.87932	D	0	.	9.3959	0.38401	0.1619:0.0:0.8381:0.0	.	125	Q9H4B7	TBB1_HUMAN	D	125	ENSP00000217133:E125D	ENSP00000217133:E125D	E	+	3	2	TUBB1	57032252	1.000000	0.71417	0.294000	0.24946	0.784000	0.44337	4.882000	0.63121	1.287000	0.44583	0.655000	0.94253	GAG		0.602	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		19	108	0	0	0	0.049695	0	19	108				
NRXN1	9378	broad.mit.edu	37	2	51255226	51255226	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr2:51255226G>A	ENST00000406316.2	-	2	1662	c.186C>T	c.(184-186)agC>agT	p.S62S	NRXN1_ENST00000401669.2_Silent_p.S62S|NRXN1_ENST00000405472.3_Silent_p.S62S|NRXN1_ENST00000404971.1_Silent_p.S62S|NRXN1_ENST00000402717.3_Silent_p.S62S|NRXN1_ENST00000405581.1_Silent_p.S62S|NRXN1_ENST00000406859.3_Silent_p.S62S	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	62	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.S62S(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGCCGCGGGCGCTGCGAGTCT	0.662																																						ENST00000404971.1																			3	Substitution - coding silent(3)	p.S62S(3)	prostate(3)	breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(184-186)agC>agT		neurexin 1							10.0	14.0	13.0					2																	51255226		1986	4148	6134	SO:0001819	synonymous_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51255226G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.186C>T	2.37:g.51255226G>A						NRXN1_ENST00000402717.3_Silent_p.S62S|NRXN1_ENST00000405581.1_Silent_p.S62S|NRXN1_ENST00000401669.2_Silent_p.S62S|NRXN1_ENST00000406859.3_Silent_p.S62S|NRXN1_ENST00000406316.2_Silent_p.S62S|NRXN1_ENST00000405472.3_Silent_p.S62S	p.S62S	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1525	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	62			Laminin G-like 1.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.186C>T	CCDS54360.1																																																																																				0.662	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			4	10	0	0	0	0.014758	0	4	10				
SCN7A	6332	broad.mit.edu	37	2	167262810	167262810	+	Silent	SNP	A	A	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr2:167262810A>T	ENST00000409855.1	-	25	4455	c.4329T>A	c.(4327-4329)atT>atA	p.I1443I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1443					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.I1443I(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TACTGTTGAAAATTGCATCAA	0.383																																						ENST00000409855.1																			3	Substitution - coding silent(3)	p.I1443I(3)	prostate(3)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(4327-4329)atT>atA		sodium channel, voltage-gated, type VII, alpha subunit							142.0	135.0	138.0					2																	167262810		1875	4134	6009	SO:0001819	synonymous_variant	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167262810A>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4329T>A	2.37:g.167262810A>T							p.I1443I	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			25	4455	-			1443						Silent	SNP	ENST00000409855.1	37	c.4329T>A	CCDS46442.1																																																																																				0.383	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			32	132	0	0	0	0.037714	0	32	132				
LRRIQ3	127255	broad.mit.edu	37	1	74507397	74507397	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr1:74507397C>A	ENST00000395089.1	-	6	1217	c.1218G>T	c.(1216-1218)gaG>gaT	p.E406D	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.E406D			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	406								p.E406D(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GTGCAAAAAACTCTTTCATAC	0.343																																						ENST00000354431.4																			1	Substitution - Missense(1)	p.E406D(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(1216-1218)gaG>gaT		leucine-rich repeats and IQ motif containing 3							121.0	109.0	113.0					1																	74507397		1841	4084	5925	SO:0001583	missense	127255							g.chr1:74507397C>A	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1218G>T	1.37:g.74507397C>A	ENSP00000378524:p.Glu406Asp					LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E406D	p.E406D	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			7	1409	-			406					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.1218G>T	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120528	0.37436	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.09350	2.99;2.99	5.56	-3.38	0.04883	.	0.977354	0.08343	N	0.960578	T	0.02304	0.0071	L	0.32530	0.975	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.48854	-0.8998	10	0.66056	D	0.02	.	5.3268	0.15910	0.2353:0.2276:0.4624:0.0748	.	406	A6PVS8	LRIQ3_HUMAN	D	406	ENSP00000378524:E406D;ENSP00000346414:E406D	ENSP00000346414:E406D	E	-	3	2	LRRIQ3	74279985	0.002000	0.14202	0.043000	0.18650	0.073000	0.16967	-0.540000	0.06106	-0.428000	0.07339	-0.283000	0.09986	GAG		0.343	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		15	74	1	0	3.27435e-08	0.020292	4.10682e-08	15	74				
GALNTL5	168391	broad.mit.edu	37	7	151664546	151664546	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr7:151664546G>A	ENST00000392800.2	+	2	469	c.215G>A	c.(214-216)aGg>aAg	p.R72K	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R72K	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	72					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.R72K(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		ATAGTCAAAAGGACTGATGAA	0.373																																						ENST00000392800.2																			1	Substitution - Missense(1)	p.R72K(1)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32						c.(214-216)aGg>aAg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5							80.0	83.0	82.0					7																	151664546		2203	4300	6503	SO:0001583	missense	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151664546G>A	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.215G>A	7.37:g.151664546G>A	ENSP00000376548:p.Arg72Lys					GALNTL5_ENST00000431418.2_Missense_Mutation_p.R72K	p.R72K	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	2	469	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	72					Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	c.215G>A	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.954945	0.00470	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.58060	0.36;0.36	4.1	-8.2	0.01045	.	7745.180000	0.00166	N	0.000000	T	0.17323	0.0416	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30060	-0.9991	10	0.07482	T	0.82	.	0.8812	0.01234	0.3225:0.2472:0.0986:0.3317	.	72	Q7Z4T8	GLTL5_HUMAN	K	72	ENSP00000392582:R72K;ENSP00000376548:R72K	ENSP00000376548:R72K	R	+	2	0	GALNTL5	151295479	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.326000	0.00511	-3.776000	0.00108	-1.150000	0.01838	AGG		0.373	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		4	41	0	0	0	0.014758	0	4	41				
TNN	63923	broad.mit.edu	37	1	175086262	175086262	+	Silent	SNP	G	G	A	rs138969989		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr1:175086262G>A	ENST00000239462.4	+	10	2420	c.2307G>A	c.(2305-2307)ccG>ccA	p.P769P		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	769	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.P769P(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCTGAGGCCGGGTGTGGAGT	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		18803	0.001		0.0	False		,,,				2504	0.0					ENST00000239462.4																			1	Substitution - coding silent(1)	p.P769P(1)	prostate(1)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(2305-2307)ccG>ccA		tenascin N							88.0	82.0	84.0					1																	175086262		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175086262G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2307G>A	1.37:g.175086262G>A							p.P769P	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	10	2420	+		Breast(1374;0.000962)	769			Fibronectin type-III 6.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.2307G>A	CCDS30943.1																																																																																				0.617	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		19	101	0	0	0	0.038395	0	19	101				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		6	43	0	0	0	0.047766	0	6	43				
GALNT13	114805	broad.mit.edu	37	2	155099377	155099377	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr2:155099377delA	ENST00000392825.3	+	6	1212	c.645delA	c.(643-645)ttafs	p.L215fs	GALNT13_ENST00000409237.1_Frame_Shift_Del_p.L215fs	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	215	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AATGCACGTTAGGATGGCTGG	0.473																																						ENST00000392825.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						c.(643-645)ttfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)							82.0	77.0	78.0					2																	155099377		2203	4300	6503	SO:0001589	frameshift_variant	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155099377delA	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.645delA	2.37:g.155099377delA	ENSP00000376570:p.Leu215fs					GALNT13_ENST00000409237.1_Frame_Shift_Del_p.L215fs	p.L215fs	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN			6	1212	+			215			Catalytic subdomain A.		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Frame_Shift_Del	DEL	ENST00000392825.3	37	c.645delA	CCDS2199.1																																																																																				0.473	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		8	51						8	51	---	---	---	---
TMPRSS11D	9407	broad.mit.edu	37	4	68719842	68719845	+	Frame_Shift_Del	DEL	ACTG	ACTG	-			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr4:68719842_68719845delACTG	ENST00000283916.6	-	3	288_291	c.190_193delCAGT	c.(190-195)cagttafs	p.QL64fs	TMPRSS11D_ENST00000545541.1_5'UTR|TMPRSS11D_ENST00000509584.1_5'UTR|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	64	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.Q64*(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGTGAATTTAACTGACTATTATAT	0.304																																						ENST00000283916.6																			1	Substitution - Nonsense(1)	p.Q64*(1)	kidney(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(190-195)tafs		transmembrane protease, serine 11D																																				SO:0001589	frameshift_variant	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68719842_68719845delACTG	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.190_193delCAGT	4.37:g.68719842_68719845delACTG	ENSP00000283916:p.Gln64fs					RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_5'UTR|TMPRSS11D_ENST00000509584.1_5'UTR	p.QL64fs	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN			3	288_291	-			64			SEA.		Q08AF6	Frame_Shift_Del	DEL	ENST00000283916.6	37	c.190_193delCAGT	CCDS3518.1																																																																																				0.304	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		7	119						7	119	---	---	---	---
RP11-941H19.3	0	broad.mit.edu	37	8	81213784	81213784	+	lincRNA	DEL	A	A	-	rs149914873|rs7842505	byFrequency	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr8:81213784delA	ENST00000522044.1	+	0	404																											CTCACCCCCCACCACcacaca	0.552													|||unknown(STR3?)	180	0.0359425	0.1256	0.0202	5008	,	,		10543	0.0		0.0	False		,,,				2504	0.0					ENST00000522044.1																			0																																																			0							g.chr8:81213784delA																													8.37:g.81213784delA														0	404	+									RNA	DEL	ENST00000522044.1	37																																																																																						0.552	RP11-941H19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000379180.1			4	3						4	3	---	---	---	---
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	-	rs371843007|rs77846840|rs540699806|rs267607656	byFrequency	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENST00000252244.3	-	9	1714_1734	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tatggctccggaggtagcagctac>tac	p.552_559YGSGGSSY>Y		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688																																						ENST00000252244.3																			3	Deletion - In frame(3)	p.S557_G563delSSYGSGG(3)	prostate(2)|central_nervous_system(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						c.(1654-1677)tac>ta		keratin 1				1239,2109		396,447,831				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		-4.4	0.0		dbSNP_129	4	2732,4060		826,1080,1490	no	coding	KRT1	NM_006121.3		1222,1527,2321	A1A1,A1R,RR		40.2238,37.0072,39.1617				3971,6169				SO:0001651	inframe_deletion	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	12.37:g.53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENSP00000252244:p.Tyr552_Ser558del						p.YGSGGSSY552del	NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN			9	1714_1734	-			552			Gly/Ser-rich.|Tail.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	In_Frame_Del	DEL	ENST00000252244.3	37	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	CCDS8836.1																																																																																				0.688	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		5	2						5	2	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs397827801|rs11353924|rs532713769|rs398078750		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438																																						ENST00000429810.2																			0																																																			0							g.chr16:74372915delT																													16.37:g.74372915delT														0	1404	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.438	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			4	8						4	8	---	---	---	---
VEZF1	7716	broad.mit.edu	37	17	56060635	56060635	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:56060635delT	ENST00000581208.1	-	2	193	c.153delA	c.(151-153)aaafs	p.K51fs	VEZF1_ENST00000584396.1_Frame_Shift_Del_p.K42fs	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	51					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						CACCCTGAGGTTTCTGAGTTA	0.473																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(124-126)aafs		vascular endothelial zinc finger 1							121.0	126.0	124.0					17																	56060635		2203	4300	6503	SO:0001589	frameshift_variant	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56060635delT	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.153delA	17.37:g.56060635delT	ENSP00000462337:p.Lys51fs					VEZF1_ENST00000581208.1_Frame_Shift_Del_p.K51fs	p.K42fs			Q14119	VEZF1_HUMAN			2	214	-			51						Frame_Shift_Del	DEL	ENST00000581208.1	37	c.126delA	CCDS32687.1																																																																																				0.473	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			7	212						7	212	---	---	---	---
ZNF333	84449	broad.mit.edu	37	19	14829233	14829251	+	Frame_Shift_Del	DEL	CCTATGCATGTAACAAATG	CCTATGCATGTAACAAATG	-	rs376718643		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:14829233_14829251delCCTATGCATGTAACAAATG	ENST00000292530.6	+	12	1185_1203	c.1094_1112delCCTATGCATGTAACAAATG	c.(1093-1113)tcctatgcatgtaacaaatgtfs	p.SYACNKC365fs	ZNF333_ENST00000536363.1_Frame_Shift_Del_p.SYACNKC256fs|ZNF333_ENST00000540689.2_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	365					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GGGGATAAATCCTATGCATGTAACAAATGTGAAAAATCC	0.438																																					NSCLC(60;75 1281 16985 25154 29885)	ENST00000292530.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						c.(1093-1113)ttfs		zinc finger protein 333																																				SO:0001589	frameshift_variant	84449				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:14829233_14829251delCCTATGCATGTAACAAATG		CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.1094_1112delCCTATGCATGTAACAAATG	19.37:g.14829233_14829251delCCTATGCATGTAACAAATG	ENSP00000292530:p.Ser365fs					ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Frame_Shift_Del_p.SYACNKC256fs	p.SYACNKC365fs	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN			12	1185_1203	+			365					Q6P2E6|Q86WS6|Q8TDL0	Frame_Shift_Del	DEL	ENST00000292530.6	37	c.1094_1112delCCTATGCATGTAACAAATG	CCDS12316.1																																																																																				0.438	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433		8	67						8	67	---	---	---	---
HNRNPL	3191	broad.mit.edu	37	19	39330958	39330959	+	Frame_Shift_Ins	INS	-	-	G			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:39330958_39330959insG	ENST00000221419.5	-	8	1376_1377	c.1010_1011insC	c.(1009-1011)ccafs	p.P337fs	AC104534.3_ENST00000594769.1_5'Flank|HNRNPL_ENST00000600873.1_Frame_Shift_Ins_p.P204fs	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	337	Pro-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CGTAGTGAGGTGGGGGGGGCCC	0.668																																						ENST00000221419.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(1009-1011)cccfs		heterogeneous nuclear ribonucleoprotein L																																				SO:0001589	frameshift_variant	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39330958_39330959insG	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1011dupC	19.37:g.39330966_39330966dupG	ENSP00000221419:p.Pro337fs					HNRNPL_ENST00000600873.1_Frame_Shift_Ins_p.P204fs	p.P337fs	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		8	1376_1377	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		337			Pro-rich.		A6ND69|A6NIT8|Q9H3P3	Frame_Shift_Ins	INS	ENST00000221419.5	37	c.1010_1011insC	CCDS33015.1																																																																																				0.668	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			8	30						8	30	---	---	---	---
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT	rs372553636		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0.0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		7	18						7	18	---	---	---	---
GALNT13	114805	broad.mit.edu	37	2	155099377	155099377	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr2:155099377delA	ENST00000392825.3	+	6	1212	c.645delA	c.(643-645)ttafs	p.L215fs	GALNT13_ENST00000409237.1_Frame_Shift_Del_p.L215fs	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	215	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AATGCACGTTAGGATGGCTGG	0.473																																						ENST00000392825.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						c.(643-645)ttfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)							82.0	77.0	78.0					2																	155099377		2203	4300	6503	SO:0001589	frameshift_variant	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155099377delA	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.645delA	2.37:g.155099377delA	ENSP00000376570:p.Leu215fs					GALNT13_ENST00000409237.1_Frame_Shift_Del_p.L215fs	p.L215fs	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN			6	1212	+			215			Catalytic subdomain A.		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Frame_Shift_Del	DEL	ENST00000392825.3	37	c.645delA	CCDS2199.1																																																																																				0.473	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		8	51						8	51	---	---	---	---
TMPRSS11D	9407	broad.mit.edu	37	4	68719842	68719845	+	Frame_Shift_Del	DEL	ACTG	ACTG	-			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr4:68719842_68719845delACTG	ENST00000283916.6	-	3	288_291	c.190_193delCAGT	c.(190-195)cagttafs	p.QL64fs	TMPRSS11D_ENST00000545541.1_5'UTR|TMPRSS11D_ENST00000509584.1_5'UTR|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	64	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.Q64*(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGTGAATTTAACTGACTATTATAT	0.304																																						ENST00000283916.6																			1	Substitution - Nonsense(1)	p.Q64*(1)	kidney(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(190-195)tafs		transmembrane protease, serine 11D																																				SO:0001589	frameshift_variant	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68719842_68719845delACTG	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.190_193delCAGT	4.37:g.68719842_68719845delACTG	ENSP00000283916:p.Gln64fs					TMPRSS11D_ENST00000509584.1_5'UTR|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_5'UTR	p.QL64fs	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN			3	288_291	-			64			SEA.		Q08AF6	Frame_Shift_Del	DEL	ENST00000283916.6	37	c.190_193delCAGT	CCDS3518.1																																																																																				0.304	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		7	119						7	119	---	---	---	---
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	-	rs371843007|rs77846840|rs540699806|rs267607656	byFrequency	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENST00000252244.3	-	9	1714_1734	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tatggctccggaggtagcagctac>tac	p.552_559YGSGGSSY>Y		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688																																						ENST00000252244.3																			3	Deletion - In frame(3)	p.S557_G563delSSYGSGG(3)	prostate(2)|central_nervous_system(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						c.(1654-1677)tac>ta		keratin 1				1239,2109		396,447,831				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		-4.4	0.0		dbSNP_129	4	2732,4060		826,1080,1490	no	coding	KRT1	NM_006121.3		1222,1527,2321	A1A1,A1R,RR		40.2238,37.0072,39.1617				3971,6169				SO:0001651	inframe_deletion	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	12.37:g.53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENSP00000252244:p.Tyr552_Ser558del						p.YGSGGSSY552del	NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN			9	1714_1734	-			552			Gly/Ser-rich.|Tail.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	In_Frame_Del	DEL	ENST00000252244.3	37	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	CCDS8836.1																																																																																				0.688	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		5	2						5	2	---	---	---	---
RP11-991C1.2	0	broad.mit.edu	37	14	95516588	95516610	+	lincRNA	DEL	GGAAGGAAGGAAGGAAAGAAGAA	GGAAGGAAGGAAGGAAAGAAGAA	-	rs141805851|rs370630614|rs373606592		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr14:95516588_95516610delGGAAGGAAGGAAGGAAAGAAGAA	ENST00000554033.1	+	0	41																											aagaaggaagggaaggaaggaaggaaagaagaaggaaggaagg	0.448																																						ENST00000554033.1																			0																																																			0							g.chr14:95516588_95516610delGGAAGGAAGGAAGGAAAGAAGAA																													14.37:g.95516588_95516610delGGAAGGAAGGAAGGAAAGAAGAA														0	41	+									RNA	DEL	ENST00000554033.1	37																																																																																						0.448	RP11-991C1.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414512.1			2	4						2	4	---	---	---	---
HERC2P4	100289574	broad.mit.edu	37	16	32126912	32126912	+	IGR	DEL	A	A	-	rs371297979		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr16:32126912delA								RP11-1166P10.6 (30806 upstream) : HERC2P4 (54392 downstream)																							TATTTTGCCCACCCGCCGCCG	0.602																																						ENST00000564145.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr16:32126912delA																													16.37:g.32126912delA														0	456	-									RNA	DEL		37																																																																																					0	0.602									3	5						3	5	---	---	---	---
VEZF1	7716	broad.mit.edu	37	17	56060635	56060635	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr17:56060635delT	ENST00000581208.1	-	2	193	c.153delA	c.(151-153)aaafs	p.K51fs	VEZF1_ENST00000584396.1_Frame_Shift_Del_p.K42fs	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	51					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						CACCCTGAGGTTTCTGAGTTA	0.473																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(124-126)aafs		vascular endothelial zinc finger 1							121.0	126.0	124.0					17																	56060635		2203	4300	6503	SO:0001589	frameshift_variant	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56060635delT	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.153delA	17.37:g.56060635delT	ENSP00000462337:p.Lys51fs					VEZF1_ENST00000581208.1_Frame_Shift_Del_p.K51fs	p.K42fs			Q14119	VEZF1_HUMAN			2	214	-			51						Frame_Shift_Del	DEL	ENST00000581208.1	37	c.126delA	CCDS32687.1																																																																																				0.473	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			7	212						7	212	---	---	---	---
ZNF333	84449	broad.mit.edu	37	19	14829233	14829251	+	Frame_Shift_Del	DEL	CCTATGCATGTAACAAATG	CCTATGCATGTAACAAATG	-	rs376718643		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr19:14829233_14829251delCCTATGCATGTAACAAATG	ENST00000292530.6	+	12	1185_1203	c.1094_1112delCCTATGCATGTAACAAATG	c.(1093-1113)tcctatgcatgtaacaaatgtfs	p.SYACNKC365fs	ZNF333_ENST00000536363.1_Frame_Shift_Del_p.SYACNKC256fs|ZNF333_ENST00000540689.2_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	365					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GGGGATAAATCCTATGCATGTAACAAATGTGAAAAATCC	0.438																																					NSCLC(60;75 1281 16985 25154 29885)	ENST00000292530.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						c.(1093-1113)ttfs		zinc finger protein 333																																				SO:0001589	frameshift_variant	84449				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:14829233_14829251delCCTATGCATGTAACAAATG		CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.1094_1112delCCTATGCATGTAACAAATG	19.37:g.14829233_14829251delCCTATGCATGTAACAAATG	ENSP00000292530:p.Ser365fs					ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Frame_Shift_Del_p.SYACNKC256fs	p.SYACNKC365fs	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN			12	1185_1203	+			365					Q6P2E6|Q86WS6|Q8TDL0	Frame_Shift_Del	DEL	ENST00000292530.6	37	c.1094_1112delCCTATGCATGTAACAAATG	CCDS12316.1																																																																																				0.438	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433		8	67						8	67	---	---	---	---
