#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
SSH2	85464	broad.mit.edu	37	17	27958126	27958126	+	Silent	SNP	C	C	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr17:27958126C>T	ENST00000269033.3	-	15	4156	c.4005G>A	c.(4003-4005)caG>caA	p.Q1335Q	SSH2_ENST00000540801.1_Silent_p.Q1362Q|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1335					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGGCTTGCTCTGCACAATAC	0.507																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(4003-4005)caG>caA		slingshot protein phosphatase 2							63.0	55.0	58.0					17																	27958126		2203	4300	6503	SO:0001819	synonymous_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27958126C>T	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.4005G>A	17.37:g.27958126C>T						RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.Q1362Q	p.Q1335Q	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			15	4156	-			1335					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Silent	SNP	ENST00000269033.3	37	c.4005G>A	CCDS11253.1																																																																																				0.507	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		4	54	0	0	0	0.000248	0	4	54				
MAGEA6	4105	broad.mit.edu	37	X	151870027	151870027	+	Missense_Mutation	SNP	C	C	G	rs144083108		TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chrX:151870027C>G	ENST00000329342.5	+	3	942	c.717C>G	c.(715-717)ttC>ttG	p.F239L		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	239	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.F239L(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					ACAGTATCTTCGGGGATCCCA	0.537																																						ENST00000329342.5																			1	Substitution - Missense(1)	p.F239L(1)	endometrium(1)	breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(715-717)ttC>ttG		melanoma antigen family A, 6		G	LEU/PHE,LEU/PHE	0,3834		0,0,1632,570	157.0	152.0	154.0		717,717	-1.2	0.0	X	dbSNP_134	154	1,6727		0,1,2427,1872	no	missense,missense	MAGEA6	NM_005363.2,NM_175868.1	22,22	0,1,4059,2442	GG,GC,CC,C		0.0149,0.0,0.0095	benign,benign	239/315,239/315	151870027	1,10561	2202	4300	6502	SO:0001583	missense	4105						protein binding	g.chrX:151870027C>G		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.717C>G	X.37:g.151870027C>G	ENSP00000329199:p.Phe239Leu						p.F239L	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	942	+	Acute lymphoblastic leukemia(192;6.56e-05)		239			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.717C>G	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	c	3.282	-0.146853	0.06627	0.0	1.49E-4	ENSG00000197172	ENST00000329342	T	0.04317	3.65	0.605	-1.21	0.09524	.	.	.	.	.	T	0.05135	0.0137	L	0.58810	1.83	0.09310	N	1	B	0.06786	0.001	B	0.15870	0.014	T	0.41251	-0.9519	8	0.56958	D	0.05	.	.	.	.	.	239	P43360	MAGA6_HUMAN	L	239	ENSP00000329199:F239L	ENSP00000329199:F239L	F	+	3	2	MAGEA6	151620683	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-1.446000	0.02398	-1.215000	0.02610	-1.114000	0.02060	TTC		0.537	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		10	124	0	0	0	0.006214	0	10	124				
CHAMP1	283489	broad.mit.edu	37	13	115090169	115090169	+	Silent	SNP	A	A	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr13:115090169A>T	ENST00000361283.1	+	3	1161	c.852A>T	c.(850-852)tcA>tcT	p.S284S		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	284	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										CATCCCCTTCAGAGTCTCCTG	0.617																																						ENST00000361283.1																			0											c.(850-852)tcA>tcT		chromosome alignment maintaining phosphoprotein 1							55.0	64.0	61.0					13																	115090169		2203	4300	6503	SO:0001819	synonymous_variant	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115090169A>T	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.852A>T	13.37:g.115090169A>T							p.S284S	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN			3	1161	+			284			Mediates interaction with MAD2L2.|Pro-rich.		B3KU06|Q6P181|Q8NC88|Q9BST0	Silent	SNP	ENST00000361283.1	37	c.852A>T	CCDS9545.1																																																																																				0.617	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		5	73	0	0	0	0.001168	0	5	73				
SPTA1	6708	broad.mit.edu	37	1	158627412	158627412	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr1:158627412C>A	ENST00000368147.4	-	19	2840	c.2660G>T	c.(2659-2661)cGa>cTa	p.R887L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	887					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTAGCAGCTCGAGCACGGAG	0.473																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2659-2661)cGa>cTa		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							169.0	165.0	166.0					1																	158627412		2003	4185	6188	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158627412C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2660G>T	1.37:g.158627412C>A	ENSP00000357129:p.Arg887Leu					SPTA1_ENST00000368147.3_Missense_Mutation_p.R887L	p.R887L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			19	2840	-	all_hematologic(112;0.0378)		887					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2660G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819215	0.50633	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.40476	1.03;1.03	4.53	4.53	0.55603	.	0.000000	0.27563	N	0.018812	T	0.27205	0.0667	N	0.20685	0.6	0.40066	D	0.975953	D	0.61080	0.989	D	0.64321	0.924	T	0.04752	-1.0929	10	0.20046	T	0.44	.	7.0171	0.24895	0.0:0.8136:0.0:0.1864	.	887	P02549	SPTA1_HUMAN	L	887	ENSP00000357130:R887L;ENSP00000357129:R887L	ENSP00000357129:R887L	R	-	2	0	SPTA1	156894036	1.000000	0.71417	0.981000	0.43875	0.119000	0.20118	5.035000	0.64158	2.504000	0.84457	0.561000	0.74099	CGA		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		6	140	1	0	0.00198382	0.001984	0.00249728	6	140				
ZMAT1	84460	broad.mit.edu	37	X	101138797	101138797	+	Silent	SNP	A	A	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chrX:101138797A>G	ENST00000372782.3	-	7	1649	c.1602T>C	c.(1600-1602)caT>caC	p.H534H	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Silent_p.H363H|ZMAT1_ENST00000540921.1_Silent_p.H534H	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	534						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						GTTTCTGTTTATGACCTGCTT	0.383																																						ENST00000458570.1																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						c.(1087-1089)caT>caC		zinc finger, matrin-type 1							174.0	142.0	153.0					X																	101138797		2203	4300	6503	SO:0001819	synonymous_variant	84460					nucleus	zinc ion binding	g.chrX:101138797A>G	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1602T>C	X.37:g.101138797A>G						ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Silent_p.H534H|ZMAT1_ENST00000372782.3_Silent_p.H534H	p.H363H			A7MD47	A7MD47_HUMAN			9	2419	-			363					Q8NDS3|Q96JN6	Silent	SNP	ENST00000372782.3	37	c.1089T>C	CCDS35348.1																																																																																				0.383	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			4	51	0	0	0	0.000602	0	4	51				
BOLA3	388962	broad.mit.edu	37	2	74362737	74362737	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr2:74362737A>G	ENST00000327428.5	-	4	426	c.307T>C	c.(307-309)Tct>Cct	p.S103P	BOLA3_ENST00000295326.4_Missense_Mutation_p.L73P	NM_212552.2	NP_997717.2	Q53S33	BOLA3_HUMAN	bolA family member 3	103						extracellular region (GO:0005576)				large_intestine(1)|lung(1)	2						TTGGGGACAGAGGTAAATATC	0.428																																						ENST00000327428.5																			0				large_intestine(1)|lung(1)	2						c.(307-309)Tct>Cct		bolA family member 3							232.0	196.0	208.0					2																	74362737		2203	4300	6503	SO:0001583	missense	388962					extracellular region		g.chr2:74362737A>G	BC017744	CCDS33224.1, CCDS33225.1	2p13.1	2013-09-02	2013-09-02		ENSG00000163170	ENSG00000163170			24415	protein-coding gene	gene with protein product		613183	"""bolA-like 3 (E. coli)"", ""bolA homolog 3 (E. coli)"""			14718656	Standard	NM_001035505		Approved		uc002skc.1	Q53S33	OTTHUMG00000152834	ENST00000327428.5:c.307T>C	2.37:g.74362737A>G	ENSP00000331369:p.Ser103Pro					BOLA3_ENST00000295326.4_Missense_Mutation_p.L73P	p.S103P	NM_212552.2	NP_997717.2	Q53S33	BOLA3_HUMAN			4	426	-			103					G3XAB0	Missense_Mutation	SNP	ENST00000327428.5	37	c.307T>C	CCDS33225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.10|16.10	3.026954|3.026954	0.54683|0.54683	.|.	.|.	ENSG00000163170|ENSG00000163170	ENST00000295326|ENST00000327428	.|T	.|0.63913	.|-0.07	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	.|0.307881	.|0.35179	.|N	.|0.003392	T|T	0.73377|0.73377	0.3579|0.3579	M|M	0.86028|0.86028	2.79|2.79	0.41483|0.41483	D|D	0.988179|0.988179	D|D	0.58268|0.61080	0.982|0.989	P|P	0.58454|0.55055	0.839|0.767	T|T	0.77384|0.77384	-0.2608|-0.2608	8|9	0.87932|.	D|.	0|.	-7.9204|-7.9204	8.4717|8.4717	0.32988|0.32988	0.8269:0.0:0.0:0.173|0.8269:0.0:0.0:0.173	.|.	73|103	G3XAB0|Q53S33	.|BOLA3_HUMAN	P|P	73|103	.|ENSP00000331369:S103P	ENSP00000295326:L73P|.	L|S	-|-	2|1	0|0	BOLA3|BOLA3	74216245|74216245	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.735000|0.735000	0.41995|0.41995	2.602000|2.602000	0.46257|0.46257	2.263000|2.263000	0.75096|0.75096	0.533000|0.533000	0.62120|0.62120	CTC|TCT		0.428	BOLA3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328207.2	NM_212552		3	67	0	0	0	0.000602	0	3	67				
PIWIL1	9271	broad.mit.edu	37	12	130831541	130831541	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr12:130831541C>A	ENST00000245255.3	+	6	859	c.587C>A	c.(586-588)aCt>aAt	p.T196N		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	196					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATAACGATCACTTTAACAAAT	0.348																																						ENST00000245255.3																			0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(586-588)aCt>aAt		piwi-like RNA-mediated gene silencing 1							127.0	122.0	123.0					12																	130831541		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130831541C>A	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.587C>A	12.37:g.130831541C>A	ENSP00000245255:p.Thr196Asn						p.T196N	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	6	859	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		196					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.587C>A	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311638	0.81358	.	.	ENSG00000125207	ENST00000245255;ENST00000540672	T;T	0.09350	2.99;2.99	5.73	5.73	0.89815	Argonaute/Dicer protein, PAZ (1);	0.000000	0.85682	D	0.000000	T	0.34629	0.0904	M	0.79693	2.465	0.80722	D	1	P;P	0.51240	0.84;0.943	B;P	0.60012	0.432;0.867	T	0.01748	-1.1282	10	0.49607	T	0.09	-6.6344	18.8981	0.92432	0.0:1.0:0.0:0.0	.	196;196	Q96J94;Q96J94-2	PIWL1_HUMAN;.	N	196;57	ENSP00000245255:T196N;ENSP00000441695:T57N	ENSP00000245255:T196N	T	+	2	0	PIWIL1	129397494	1.000000	0.71417	0.910000	0.35882	0.514000	0.34195	7.791000	0.85805	2.691000	0.91804	0.650000	0.86243	ACT		0.348	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			5	49	1	0	0.00116845	0.001168	0.00150631	5	49				
LUZP1	7798	broad.mit.edu	37	1	23419092	23419092	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr1:23419092C>A	ENST00000302291.4	-	4	2464	c.1663G>T	c.(1663-1665)Gct>Tct	p.A555S	LUZP1_ENST00000314174.5_Missense_Mutation_p.A555S|LUZP1_ENST00000374623.3_Missense_Mutation_p.A555S|LUZP1_ENST00000418342.1_Missense_Mutation_p.A555S			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	555					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GAGTTTGCAGCCTGAGTTACT	0.537																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(1663-1665)Gct>Tct		leucine zipper protein 1							104.0	90.0	95.0					1																	23419092		2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23419092C>A	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1663G>T	1.37:g.23419092C>A	ENSP00000303758:p.Ala555Ser					LUZP1_ENST00000314174.5_Missense_Mutation_p.A555S|LUZP1_ENST00000374623.3_Missense_Mutation_p.A555S|LUZP1_ENST00000418342.1_Missense_Mutation_p.A555S	p.A555S			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	2464	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	555					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.1663G>T	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	C	8.870	0.949022	0.18356	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.15139	2.65;2.65;2.65;2.45	5.73	5.73	0.89815	.	0.444348	0.18988	N	0.125682	T	0.18923	0.0454	L	0.54323	1.7	0.27084	N	0.963003	B;B	0.19583	0.037;0.037	B;B	0.17979	0.02;0.02	T	0.10451	-1.0629	10	0.19590	T	0.45	.	15.369	0.74548	0.1397:0.8603:0.0:0.0	.	555;555	Q86V48-2;Q86V48	.;LUZP1_HUMAN	S	555	ENSP00000393460:A555S;ENSP00000363752:A555S;ENSP00000303758:A555S;ENSP00000313705:A555S	ENSP00000303758:A555S	A	-	1	0	LUZP1	23291679	0.096000	0.21769	0.689000	0.30133	0.263000	0.26337	3.120000	0.50430	2.723000	0.93209	0.650000	0.86243	GCT		0.537	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		4	97	1	0	0.000602214	0.000602	0.000795518	4	97				
CSMD1	64478	broad.mit.edu	37	8	4494966	4494966	+	Missense_Mutation	SNP	C	C	G	rs371015364		TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr8:4494966C>G	ENST00000520002.1	-	2	755	c.200G>C	c.(199-201)cGc>cCc	p.R67P	CSMD1_ENST00000539096.1_Missense_Mutation_p.R67P|CSMD1_ENST00000400186.3_Missense_Mutation_p.R67P|CSMD1_ENST00000542608.1_Missense_Mutation_p.R67P|CSMD1_ENST00000602557.1_Missense_Mutation_p.R67P|CSMD1_ENST00000602723.1_Missense_Mutation_p.R67P|CSMD1_ENST00000537824.1_Missense_Mutation_p.R67P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	67	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TATCCTATTGCGCTCGCCCGT	0.468																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(199-201)cGc>cCc		CUB and Sushi multiple domains 1							126.0	125.0	126.0					8																	4494966		1935	4174	6109	SO:0001583	missense	64478					integral to membrane		g.chr8:4494966C>G			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.200G>C	8.37:g.4494966C>G	ENSP00000430733:p.Arg67Pro					CSMD1_ENST00000542608.1_Missense_Mutation_p.R67P|CSMD1_ENST00000539096.1_Missense_Mutation_p.R67P|CSMD1_ENST00000537824.1_Missense_Mutation_p.R67P|CSMD1_ENST00000602723.1_Missense_Mutation_p.R67P|CSMD1_ENST00000602557.1_Missense_Mutation_p.R67P|CSMD1_ENST00000400186.3_Missense_Mutation_p.R67P	p.R67P			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	2	755	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	67			CUB 1.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.200G>C		.	.	.	.	.	.	.	.	.	.	C	19.04	3.749191	0.69533	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.12	5.12	0.69794	.	.	.	.	.	T	0.39733	0.1089	N	0.17838	0.53	0.33052	D	0.532829	D	0.71674	0.998	D	0.65874	0.939	T	0.49872	-0.8893	9	0.46703	T	0.11	.	16.0542	0.80782	0.0:1.0:0.0:0.0	.	67	E5RIG2	.	P	67	ENSP00000383047:R67P;ENSP00000430733:R67P;ENSP00000441462:R67P;ENSP00000446243:R67P;ENSP00000441675:R67P	ENSP00000383047:R67P	R	-	2	0	CSMD1	4482374	0.996000	0.38824	0.498000	0.27564	0.867000	0.49689	3.319000	0.51983	2.401000	0.81631	0.585000	0.79938	CGC		0.468	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		4	101	0	0	0	0.000248	0	4	101				
OR9A4	130075	broad.mit.edu	37	7	141618783	141618783	+	Silent	SNP	G	G	A			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr7:141618783G>A	ENST00000548136.1	+	1	167	c.108G>A	c.(106-108)gtG>gtA	p.V36V	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TCTACTTGGTGACATTAATGG	0.428																																						ENST00000548136.1																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22						c.(106-108)gtG>gtA		olfactory receptor, family 9, subfamily A, member 4							198.0	208.0	204.0					7																	141618783		2200	4300	6500	SO:0001819	synonymous_variant	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141618783G>A		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.108G>A	7.37:g.141618783G>A						MGAM_ENST00000497554.1_Intron	p.V36V	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN			1	167	+	Melanoma(164;0.0171)		36					B9EGV6|Q6IFI4	Silent	SNP	ENST00000548136.1	37	c.108G>A	CCDS43661.1																																																																																				0.428	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		6	157	0	0	0	0.001984	0	6	157				
MAGEC1	9947	broad.mit.edu	37	X	140994645	140994645	+	Silent	SNP	C	C	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chrX:140994645C>T	ENST00000285879.4	+	4	1741	c.1455C>T	c.(1453-1455)tcC>tcT	p.S485S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	485								p.S485S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGCTCCTCCTCCTCCTCCT	0.478										HNSCC(15;0.026)																												ENST00000285879.4																			1	Substitution - coding silent(1)	p.S485S(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1453-1455)tcC>tcT		melanoma antigen family C, 1							117.0	129.0	125.0					X																	140994645		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994645C>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1455C>T	X.37:g.140994645C>T		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.S485S	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1741	+	Acute lymphoblastic leukemia(192;6.56e-05)		485					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1455C>T	CCDS35417.1																																																																																				0.478	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		7	126	0	0	0	0.001984	0	7	126				
PLEKHM1	9842	broad.mit.edu	37	17	43522928	43522928	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr17:43522928C>A	ENST00000430334.3	-	9	2878	c.2745G>T	c.(2743-2745)atG>atT	p.M915I	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.M826I|PLEKHM1_ENST00000580404.1_5'UTR	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	915					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CAATGAGGTGCATCCGCTCCA	0.612																																						ENST00000430334.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(2743-2745)atG>atT		pleckstrin homology domain containing, family M (with RUN domain) member 1							65.0	63.0	64.0					17																	43522928		2202	4299	6501	SO:0001583	missense	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43522928C>A	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.2745G>T	17.37:g.43522928C>A	ENSP00000389913:p.Met915Ile					PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.M826I	p.M915I	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN			9	2878	-	Renal(3;0.0405)		915					Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	c.2745G>T	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688903	0.68271	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.65178	-0.13;-0.14	4.59	4.59	0.56863	.	0.047600	0.85682	D	0.000000	T	0.60663	0.2286	M	0.72118	2.19	0.58432	D	0.999999	P;P	0.43662	0.814;0.555	B;B	0.36989	0.212;0.238	T	0.70153	-0.4950	10	0.72032	D	0.01	.	15.3251	0.74154	0.0:1.0:0.0:0.0	.	826;915	F8W648;Q9Y4G2	.;PKHM1_HUMAN	I	915;864;826	ENSP00000389913:M915I;ENSP00000414352:M826I	ENSP00000414352:M826I	M	-	3	0	PLEKHM1	40878711	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.779000	0.75057	2.553000	0.86117	0.485000	0.47835	ATG		0.612	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		6	75	1	0	0.00448238	0.004482	0.00551281	6	75				
ZNF658	26149	broad.mit.edu	37	9	40774387	40774387	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr9:40774387G>C	ENST00000602553.1	-	5	1182	c.888C>G	c.(886-888)caC>caG	p.H296Q	ZNF658_ENST00000377626.3_Missense_Mutation_p.H296Q|ZNF658_ENST00000441795.1_Missense_Mutation_p.H294Q			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	296					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TACACTCATAGTGTGTCATAG	0.403																																						ENST00000602553.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.(886-888)caC>caG		zinc finger protein 658							63.0	64.0	64.0					9																	40774387		2199	4279	6478	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40774387G>C	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.888C>G	9.37:g.40774387G>C	ENSP00000473484:p.His296Gln					ZNF658_ENST00000377626.3_Missense_Mutation_p.H296Q|ZNF658_ENST00000441795.1_Missense_Mutation_p.H294Q	p.H296Q			Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	1182	-			296					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.888C>G	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	g	1.995	-0.430888	0.04669	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	T;T	0.27557	1.66;1.66	2.15	-0.942	0.10398	.	.	.	.	.	T	0.22437	0.0541	N	0.16166	0.38	0.09310	N	1	D;P	0.59767	0.986;0.797	P;B	0.50754	0.649;0.329	T	0.17531	-1.0366	9	0.62326	D	0.03	.	6.5473	0.22412	0.5713:0.0:0.4287:0.0	.	296;296	Q5TYW1-2;Q5TYW1	.;ZN658_HUMAN	Q	294;296	ENSP00000408462:H294Q;ENSP00000366853:H296Q	ENSP00000366853:H296Q	H	-	3	2	ZNF658	40764387	0.993000	0.37304	0.000000	0.03702	0.056000	0.15407	-0.105000	0.10907	-0.312000	0.08741	-1.249000	0.01516	CAC		0.403	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		18	167	0	0	0	0.005443	0	18	167				
NDUFAF3	25915	broad.mit.edu	37	3	49060398	49060398	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr3:49060398G>T	ENST00000326925.6	+	4	1561	c.427G>T	c.(427-429)Gtg>Ttg	p.V143L	NDUFAF3_ENST00000326912.4_Missense_Mutation_p.V86L|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.V86L|NDUFAF3_ENST00000395458.2_Missense_Mutation_p.V86L|DALRD3_ENST00000313778.5_5'Flank|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000496568.1_5'Flank|DALRD3_ENST00000440857.1_5'Flank|MIR191_ENST00000384873.1_RNA	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	143					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						TGCTGTGGAAGTGCAGGACAC	0.637																																						ENST00000326925.6																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						c.(427-429)Gtg>Ttg		NADH dehydrogenase (ubiquinone) complex I, assembly factor 3							78.0	83.0	81.0					3																	49060398		2203	4300	6503	SO:0001583	missense	25915				mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding	g.chr3:49060398G>T		CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.427G>T	3.37:g.49060398G>T	ENSP00000323076:p.Val143Leu					NDUFAF3_ENST00000395458.2_Missense_Mutation_p.V86L|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.V86L|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.V86L	p.V143L	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN			4	1561	+			143						Missense_Mutation	SNP	ENST00000326925.6	37	c.427G>T	CCDS2784.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828508	0.90955	.	.	ENSG00000178057	ENST00000326912;ENST00000326925;ENST00000395458;ENST00000451378	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.56	4.68	0.58851	.	0.129781	0.50627	D	0.000119	D	0.82788	0.5113	M	0.80332	2.49	0.52501	D	0.999958	P	0.36330	0.548	P	0.46452	0.517	T	0.82402	-0.0475	10	0.45353	T	0.12	-19.1297	11.613	0.51072	0.1475:0.0:0.8525:0.0	.	143	Q9BU61	NDUF3_HUMAN	L	86;143;86;86	ENSP00000323003:V86L;ENSP00000323076:V143L;ENSP00000378843:V86L;ENSP00000402465:V86L	ENSP00000323003:V86L	V	+	1	0	NDUFAF3	49035402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.624000	0.61254	1.319000	0.45190	0.655000	0.94253	GTG		0.637	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		4	95	1	0	0.00024832	0.000248	0.000336332	4	95				
SLC47A1	55244	broad.mit.edu	37	17	19470127	19470127	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr17:19470127G>T	ENST00000270570.4	+	13	1217	c.1131G>T	c.(1129-1131)caG>caT	p.Q377H	SLC47A1_ENST00000457293.1_Missense_Mutation_p.Q377H|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000395585.1_Missense_Mutation_p.Q377H|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000436810.2_Missense_Mutation_p.Q354H|SLC47A1_ENST00000571335.1_Missense_Mutation_p.Q182H	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	377					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	TGGTGGCTCAGGTGGTTCCAA	0.418																																						ENST00000270570.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(1129-1131)caG>caT		solute carrier family 47 (multidrug and toxin extrusion), member 1							228.0	198.0	208.0					17																	19470127		2203	4300	6503	SO:0001583	missense	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19470127G>T		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.1131G>T	17.37:g.19470127G>T	ENSP00000270570:p.Gln377His					SLC47A1_ENST00000571335.1_Missense_Mutation_p.Q182H|SLC47A1_ENST00000457293.1_Missense_Mutation_p.Q377H|SLC47A1_ENST00000395585.1_Missense_Mutation_p.Q377H|SLC47A1_ENST00000436810.2_Missense_Mutation_p.Q354H|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000575023.1_Intron	p.Q377H	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN			13	1217	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		377					Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	ENST00000270570.4	37	c.1131G>T	CCDS11209.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.188784	0.38609	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000395585;ENST00000455670;ENST00000424755	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.37	2.28	0.28536	.	0.503869	0.23734	N	0.045097	T	0.25382	0.0617	L	0.46741	1.465	0.80722	D	1	B;B;B;B;B	0.27140	0.024;0.169;0.059;0.041;0.054	B;B;B;B;B	0.30401	0.115;0.081;0.115;0.081;0.052	T	0.03910	-1.0993	10	0.37606	T	0.19	-13.4477	7.5675	0.27887	0.346:0.0:0.654:0.0	.	111;354;111;377;377	E7ENC3;E7EX57;B4DDH5;Q96FL8;Q96FL8-3	.;.;.;S47A1_HUMAN;.	H	354;377;377;377;111;89	ENSP00000407155:Q354H;ENSP00000270570:Q377H;ENSP00000415586:Q377H;ENSP00000378951:Q377H	ENSP00000270570:Q377H	Q	+	3	2	SLC47A1	19410719	0.851000	0.29673	0.999000	0.59377	0.993000	0.82548	0.559000	0.23485	0.242000	0.21303	0.655000	0.94253	CAG		0.418	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		5	57	1	0	0.00116845	0.001168	0.00150631	5	57				
HRC	3270	broad.mit.edu	37	19	49657229	49657229	+	Silent	SNP	G	G	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr19:49657229G>C	ENST00000252825.4	-	1	1452	c.1266C>G	c.(1264-1266)gtC>gtG	p.V422V	HRC_ENST00000595625.1_Silent_p.V422V	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	422					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CCTCCCTGGGGACTCTGTGGT	0.537																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(1264-1266)gtC>gtG		histidine rich calcium binding protein							108.0	105.0	106.0					19																	49657229		2203	4300	6503	SO:0001819	synonymous_variant	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49657229G>C		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1266C>G	19.37:g.49657229G>C						HRC_ENST00000595625.1_Silent_p.V422V	p.V422V	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	1452	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	422					Q504Y6	Silent	SNP	ENST00000252825.4	37	c.1266C>G	CCDS12759.1																																																																																				0.537	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		3	93	0	0	0	0.004672	0	3	93				
NUMB	8650	broad.mit.edu	37	14	73745999	73745999	+	Silent	SNP	G	G	A			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr14:73745999G>A	ENST00000355058.3	-	12	1508	c.1230C>T	c.(1228-1230)gcC>gcT	p.A410A	NUMB_ENST00000544991.3_Intron|NUMB_ENST00000556772.1_Silent_p.A266A|NUMB_ENST00000359560.3_Silent_p.A399A|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000535282.1_Silent_p.A399A|NUMB_ENST00000555738.2_Intron|NUMB_ENST00000555394.1_Intron|NUMB_ENST00000554546.1_Intron|NUMB_ENST00000560335.1_Intron|NUMB_ENST00000557597.1_Silent_p.A399A|NUMB_ENST00000356296.4_Intron|NUMB_ENST00000454166.4_Intron|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000555238.1_Silent_p.A410A			P49757	NUMB_HUMAN	numb homolog (Drosophila)	410					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		CCGAACATGTGGCTGCAATTT	0.527																																						ENST00000556772.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(796-798)gcC>gcT		numb homolog (Drosophila)							107.0	86.0	93.0					14																	73745999		2203	4300	6503	SO:0001819	synonymous_variant	8650				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane		g.chr14:73745999G>A	L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"""numb (Drosophila) homolog"", ""chromosome 14 open reading frame 41"""	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.1230C>T	14.37:g.73745999G>A						NUMB_ENST00000560335.1_Intron|NUMB_ENST00000356296.4_Intron|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000355058.3_Silent_p.A410A|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000555394.1_Intron|NUMB_ENST00000454166.4_Intron|NUMB_ENST00000555738.2_Intron|NUMB_ENST00000555238.1_Silent_p.A410A|NUMB_ENST00000554546.1_Intron|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000535282.1_Silent_p.A399A|NUMB_ENST00000557597.1_Silent_p.A399A|NUMB_ENST00000359560.3_Silent_p.A399A	p.A266A			P49757	NUMB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)	6	3085	-			410					B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Silent	SNP	ENST00000355058.3	37	c.798C>T	CCDS32116.1																																																																																				0.527	NUMB-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414416.1			4	71	0	0	0	0.000602	0	4	71				
DCHS2	54798	broad.mit.edu	37	4	155278384	155278384	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr4:155278384G>C	ENST00000357232.4	-	6	786	c.787C>G	c.(787-789)Cta>Gta	p.L263V	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	263	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		aagtgccttagcagaggtaaa	0.398																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(787-789)Cta>Gta		dachsous cadherin-related 2							151.0	161.0	158.0					4																	155278384		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155278384G>C	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.787C>G	4.37:g.155278384G>C	ENSP00000349768:p.Leu263Val					DCHS2_ENST00000339452.1_Intron	p.L263V	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	6	786	-	all_hematologic(180;0.208)	Renal(120;0.0854)	263			Cadherin 2.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.787C>G	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	0.057	-1.234083	0.01505	.	.	ENSG00000197410	ENST00000357232	T	0.54279	0.58	0.392	0.392	0.16288	Cadherin (1);	.	.	.	.	T	0.30198	0.0757	N	0.14661	0.345	0.09310	N	1	B	0.17465	0.022	B	0.10450	0.005	T	0.18587	-1.0332	8	0.25751	T	0.34	.	.	.	.	.	263	Q6V1P9	PCD23_HUMAN	V	263	ENSP00000349768:L263V	ENSP00000349768:L263V	L	-	1	2	DCHS2	155497834	0.030000	0.19436	0.114000	0.21550	0.107000	0.19398	-0.951000	0.03885	0.430000	0.26230	0.430000	0.28490	CTA		0.398	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		11	136	0	0	0	0.000978	0	11	136				
PIK3CA	5290	broad.mit.edu	37	3	178947827	178947827	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr3:178947827G>T	ENST00000263967.3	+	19	2859	c.2702G>T	c.(2701-2703)tGt>tTt	p.C901F		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	901	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.C901F(7)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ACACGTTCATGTGCTGGATAC	0.388		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		7	Substitution - Missense(7)	p.C901F(7)	endometrium(4)|large_intestine(2)|stomach(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(2701-2703)tGt>tTt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							220.0	207.0	211.0					3																	178947827		1906	4131	6037	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178947827G>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2702G>T	3.37:g.178947827G>T	ENSP00000263967:p.Cys901Phe	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.C901F	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		19	2859	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		901			PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.2702G>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506649	0.85282	.	.	ENSG00000121879	ENST00000263967	T	0.76060	-0.99	5.61	5.61	0.85477	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.090376	0.85682	D	0.000000	D	0.90051	0.6893	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91894	0.5526	10	0.87932	D	0	-11.1303	19.6363	0.95735	0.0:0.0:1.0:0.0	.	901	P42336	PK3CA_HUMAN	F	901	ENSP00000263967:C901F	ENSP00000263967:C901F	C	+	2	0	PIK3CA	180430521	1.000000	0.71417	0.987000	0.45799	0.949000	0.60115	9.367000	0.97148	2.648000	0.89879	0.585000	0.79938	TGT		0.388	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			16	174	1	0	2.48551e-13	0.004990	3.54599e-13	16	174				
SLC24A1	9187	broad.mit.edu	37	15	65936825	65936825	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr15:65936825A>G	ENST00000261892.6	+	5	2401	c.2114A>G	c.(2113-2115)cAg>cGg	p.Q705R	SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000546330.1_Missense_Mutation_p.Q687R|SLC24A1_ENST00000339868.6_Missense_Mutation_p.Q687R|SLC24A1_ENST00000544319.2_Intron|SLC24A1_ENST00000537259.1_Missense_Mutation_p.Q687R|SLC24A1_ENST00000399033.4_Missense_Mutation_p.Q705R	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	705					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GCCCAACCCCAGGCCAAAGCA	0.547																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2113-2115)cAg>cGg		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1							75.0	92.0	87.0					15																	65936825		1981	4158	6139	SO:0001583	missense	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65936825A>G	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.2114A>G	15.37:g.65936825A>G	ENSP00000261892:p.Gln705Arg					SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000339868.6_Missense_Mutation_p.Q687R|SLC24A1_ENST00000546330.1_Missense_Mutation_p.Q687R|SLC24A1_ENST00000399033.4_Missense_Mutation_p.Q705R|SLC24A1_ENST00000537259.1_Missense_Mutation_p.Q687R|SLC24A1_ENST00000544319.2_Intron	p.Q705R	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			5	2401	+			705					O43485|O75184|Q17RM9	Missense_Mutation	SNP	ENST00000261892.6	37	c.2114A>G	CCDS45284.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.910020	0.33721	.	.	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000399033;ENST00000546330	T;T;T;T;T	0.65178	0.08;-0.12;-0.14;-0.12;-0.14	4.69	2.32	0.28847	.	.	.	.	.	T	0.56232	0.1971	M	0.68952	2.095	0.19575	N	0.999961	B;B;B;B;P;P	0.51351	0.012;0.123;0.075;0.075;0.944;0.907	B;B;B;B;P;B	0.45037	0.004;0.038;0.017;0.017;0.467;0.276	T	0.44892	-0.9298	9	0.21540	T	0.41	.	3.9968	0.09561	0.6736:0.2177:0.1086:0.0	.	32;687;705;705;687;687	B4DUG1;O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;.;NCKX1_HUMAN;.;.	R	687;705;687;705;687	ENSP00000439693:Q687R;ENSP00000261892:Q705R;ENSP00000341837:Q687R;ENSP00000381991:Q705R;ENSP00000439190:Q687R	ENSP00000261892:Q705R	Q	+	2	0	SLC24A1	63723879	1.000000	0.71417	0.479000	0.27329	0.670000	0.39368	2.089000	0.41672	0.841000	0.35020	0.459000	0.35465	CAG		0.547	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		2	6	0	0	0	0.004672	0	2	6				
MT1A	4489	broad.mit.edu	37	16	56670369	56670369	+	5'Flank	SNP	C	C	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr16:56670369C>T	ENST00000290705.8	+	0	0				MT1JP_ENST00000564564.1_RNA	NM_005946.2	NP_005937.2	P04731	MT1A_HUMAN	metallothionein 1A						cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)	3					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TGCACGTGCGCCGGCTCCTGC	0.577																																						ENST00000564564.1																			0																																																	SO:0001631	upstream_gene_variant	4498							g.chr16:56670369C>T	BC029475	CCDS32454.1	16q13	2012-10-02	2007-03-02			ENSG00000205362		"""Metallothioneins"""	7393	protein-coding gene	gene with protein product		156350	"""metallothionein 1S"""	MT1, MT1S		6089206, 6327055	Standard	NM_005946		Approved		uc002ejq.3	P04731			16.37:g.56670369C>T	Exception_encountered													0	695	+								Q86YX5	RNA	SNP	ENST00000290705.8	37		CCDS32454.1	.	.	.	.	.	.	.	.	.	.	c	7.033	0.561081	0.13498	.	.	ENSG00000255986	ENST00000444023	.	.	.	2.52	2.52	0.30459	.	.	.	.	.	T	0.59348	0.2187	.	.	.	.	.	.	.	.	.	.	.	.	T	0.71813	-0.4479	4	0.87932	D	0	.	10.2455	0.43339	0.0:1.0:0.0:0.0	.	.	.	.	V	16	.	ENSP00000412277:A16V	A	+	2	0	AC026461.1	55227870	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.755000	0.26405	1.398000	0.46701	0.580000	0.79431	GCC		0.577	MT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434324.1	NM_005946		6	63	0	0	0	0.001168	0	6	63				
MYH6	4624	broad.mit.edu	37	14	23863348	23863348	+	Missense_Mutation	SNP	G	G	T	rs201193346	byFrequency	TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr14:23863348G>T	ENST00000356287.3	-	20	2643	c.2614C>A	c.(2614-2616)Cgc>Agc	p.R872S	MYH6_ENST00000405093.3_Missense_Mutation_p.R872S			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	872					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.R872C(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGCTCCTTGCGGCGAGCCTCG	0.592																																						ENST00000405093.3																			1	Substitution - Missense(1)	p.R872C(1)	upper_aerodigestive_tract(1)	breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(2614-2616)Cgc>Agc		myosin, heavy chain 6, cardiac muscle, alpha							107.0	89.0	95.0					14																	23863348		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23863348G>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2614C>A	14.37:g.23863348G>T	ENSP00000348634:p.Arg872Ser					MYH6_ENST00000356287.3_Missense_Mutation_p.R872S	p.R872S	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	21	2684	-	all_cancers(95;2.54e-05)		872					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.2614C>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	g	17.70	3.454964	0.63290	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.83250	-1.7;-1.7	4.57	4.57	0.56435	.	.	.	.	.	D	0.88962	0.6580	M	0.90145	3.09	0.46416	D	0.999039	P	0.40266	0.71	P	0.47430	0.547	D	0.91168	0.4966	9	0.87932	D	0	.	13.534	0.61638	0.0:0.0:0.7708:0.2292	.	872	P13533	MYH6_HUMAN	S	872	ENSP00000386041:R872S;ENSP00000348634:R872S	ENSP00000348634:R872S	R	-	1	0	MYH6	22933188	0.928000	0.31464	1.000000	0.80357	0.993000	0.82548	2.038000	0.41184	2.274000	0.75844	0.555000	0.69702	CGC		0.592	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			9	81	1	0	1.04858e-14	0.006214	1.51618e-14	9	81				
ADAM19	8728	broad.mit.edu	37	5	156934137	156934137	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr5:156934137A>G	ENST00000517905.1	-	10	961	c.917T>C	c.(916-918)tTc>tCc	p.F306S	ADAM19_ENST00000257527.4_Missense_Mutation_p.F306S|ADAM19_ENST00000394020.1_Missense_Mutation_p.F308S|ADAM19_ENST00000430702.2_Missense_Mutation_p.F39S			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	306	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTGCCGTGGAAGGACATGCC	0.617																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(916-918)tTc>tCc		ADAM metallopeptidase domain 19							76.0	71.0	73.0					5																	156934137		2203	4300	6503	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156934137A>G	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.917T>C	5.37:g.156934137A>G	ENSP00000428654:p.Phe306Ser					ADAM19_ENST00000517905.1_Missense_Mutation_p.F306S|ADAM19_ENST00000394020.1_Missense_Mutation_p.F308S|ADAM19_ENST00000430702.2_Missense_Mutation_p.F39S	p.F306S	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		10	995	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	306			Peptidase M12B.		Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.917T>C		.	.	.	.	.	.	.	.	.	.	A	33	5.194716	0.94960	.	.	ENSG00000135074	ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905	T;D;D;D	0.88509	2.73;-2.39;-2.39;-2.39	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000002	D	0.96030	0.8707	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97204	0.9866	10	0.87932	D	0	.	15.5379	0.76018	1.0:0.0:0.0:0.0	.	306;39	Q9H013-2;E9PD32	.;.	S	39;306;308;306	ENSP00000414088:F39S;ENSP00000257527:F306S;ENSP00000377588:F308S;ENSP00000428654:F306S	ENSP00000257527:F306S	F	-	2	0	ADAM19	156866715	1.000000	0.71417	0.982000	0.44146	0.990000	0.78478	9.235000	0.95353	2.071000	0.62044	0.528000	0.53228	TTC		0.617	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		3	80	0	0	0	0.004672	0	3	80				
SERPINA7	6906	broad.mit.edu	37	X	105280605	105280605	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chrX:105280605C>T	ENST00000327674.4	-	1	780	c.445G>A	c.(445-447)Gat>Aat	p.D149N	SERPINA7_ENST00000487487.1_5'Flank|SERPINA7_ENST00000372563.1_Missense_Mutation_p.D149N			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	149					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GTCTTGACATCATTCAAGAAC	0.428																																						ENST00000327674.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24						c.(445-447)Gat>Aat		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	Levothyroxine(DB00451)|Liothyronine(DB00279)						169.0	162.0	164.0					X																	105280605		2203	4300	6503	SO:0001583	missense	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105280605C>T	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.445G>A	X.37:g.105280605C>T	ENSP00000329374:p.Asp149Asn					SERPINA7_ENST00000372563.1_Missense_Mutation_p.D149N	p.D149N			P05543	THBG_HUMAN			1	780	-			149					D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	37	c.445G>A	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	C	3.029	-0.200089	0.06219	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.84370	-1.84;-1.84	4.7	1.87	0.25490	Serpin domain (3);	0.302431	0.31859	N	0.006948	T	0.78368	0.4272	L	0.45051	1.395	0.31468	N	0.668703	B	0.16603	0.018	B	0.17979	0.02	T	0.71371	-0.4613	10	0.36615	T	0.2	.	11.4403	0.50092	0.4349:0.5651:0.0:0.0	.	149	P05543	THBG_HUMAN	N	149	ENSP00000329374:D149N;ENSP00000361644:D149N	ENSP00000329374:D149N	D	-	1	0	SERPINA7	105167261	0.994000	0.37717	0.871000	0.34182	0.028000	0.11728	5.487000	0.66863	0.141000	0.18875	0.594000	0.82650	GAT		0.428	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		6	95	0	0	0	0.001984	0	6	95				
HNRNPA1L2	144983	broad.mit.edu	37	13	53217477	53217477	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr13:53217477A>T	ENST00000357495.2	+	1	910	c.850A>T	c.(850-852)Aga>Tga	p.R284*	HNRNPA1L2_ENST00000398039.1_Nonsense_Mutation_p.R284*|HNRNPA1L2_ENST00000342657.3_Nonsense_Mutation_p.R284*			Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	284	Gly-rich.|Nuclear targeting sequence. {ECO:0000250}.				alternative mRNA splicing, via spliceosome (GO:0000380)|mRNA transport (GO:0051028)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			cervix(1)|large_intestine(1)|lung(5)	7						TTTTGGAGGCAGAAGCTCTGG	0.478																																						ENST00000342657.3																			0				cervix(1)|large_intestine(1)|lung(5)	7						c.(850-852)Aga>Tga		heterogeneous nuclear ribonucleoprotein A1-like 2							42.0	51.0	48.0					13																	53217477		1538	2910	4448	SO:0001587	stop_gained	144983				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding	g.chr13:53217477A>T		CCDS31980.1	13q14.3	2013-02-12			ENSG00000139675	ENSG00000139675		"""RNA binding motif (RRM) containing"""	27067	protein-coding gene	gene with protein product						12477932	Standard	NM_001011724		Approved	LOC144983	uc001vgy.1	Q32P51	OTTHUMG00000016972	ENST00000357495.2:c.850A>T	13.37:g.53217477A>T	ENSP00000350090:p.Arg284*					HNRNPA1L2_ENST00000398039.1_Nonsense_Mutation_p.R284*|HNRNPA1L2_ENST00000357495.2_Nonsense_Mutation_p.R284*	p.R284*	NM_001011724.1	NP_001011724.1	Q32P51	RA1L2_HUMAN			7	1923	+			284			Gly-rich.|Nuclear targeting sequence (By similarity).		Q5TBS2	Nonsense_Mutation	SNP	ENST00000357495.2	37	c.850A>T	CCDS31980.1	.	.	.	.	.	.	.	.	.	.	a	13.77	2.336171	0.41398	.	.	ENSG00000139675	ENST00000342657;ENST00000398039;ENST00000357495	.	.	.	0.352	0.352	0.16051	.	0.000000	0.44097	U	0.000486	.	.	.	.	.	.	0.54753	D	0.999982	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.0981	0.14745	0.9998:0.0:2.0E-4:0.0	.	.	.	.	X	284	.	ENSP00000341285:R284X	R	+	1	2	HNRNPA1L2	52115478	0.012000	0.17670	0.975000	0.42487	0.187000	0.23431	-0.000000	0.12993	0.382000	0.24878	0.076000	0.15429	AGA		0.478	HNRNPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045098.1	NM_001011724		5	101	0	0	0	0.000978	0	5	101				
PLEKHM1	9842	broad.mit.edu	37	17	43522926	43522926	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr17:43522926T>G	ENST00000430334.3	-	9	2880	c.2747A>C	c.(2746-2748)cAc>cCc	p.H916P	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.H827P|PLEKHM1_ENST00000580404.1_5'UTR	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	916					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CCCAATGAGGTGCATCCGCTC	0.617																																						ENST00000430334.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(2746-2748)cAc>cCc		pleckstrin homology domain containing, family M (with RUN domain) member 1							65.0	62.0	63.0					17																	43522926		2202	4299	6501	SO:0001583	missense	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43522926T>G	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.2747A>C	17.37:g.43522926T>G	ENSP00000389913:p.His916Pro					PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.H827P	p.H916P	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN			9	2880	-	Renal(3;0.0405)		916					Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	c.2747A>C	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.814485	0.32053	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.63913	-0.07;-0.07	4.59	2.09	0.27110	.	0.775970	0.12301	N	0.481076	T	0.50257	0.1605	L	0.43152	1.355	0.35636	D	0.810569	B;P	0.38642	0.396;0.641	B;B	0.37888	0.192;0.26	T	0.50101	-0.8867	10	0.30854	T	0.27	.	7.0076	0.24846	0.0:0.2335:0.0:0.7665	.	827;916	F8W648;Q9Y4G2	.;PKHM1_HUMAN	P	916;865;827	ENSP00000389913:H916P;ENSP00000414352:H827P	ENSP00000414352:H827P	H	-	2	0	PLEKHM1	40878709	0.000000	0.05858	1.000000	0.80357	0.903000	0.53119	-1.096000	0.03353	0.266000	0.21894	0.397000	0.26171	CAC		0.617	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		6	73	0	0	0	0.004482	0	6	73				
RUFY2	55680	broad.mit.edu	37	10	70141060	70141060	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr10:70141060T>C	ENST00000602465.1	-	11	1136	c.1036A>G	c.(1036-1038)Act>Gct	p.T346A	RUFY2_ENST00000388768.2_Missense_Mutation_p.T381A|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000399200.2_Missense_Mutation_p.T312A|RUFY2_ENST00000454950.2_Missense_Mutation_p.T288A			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	395						nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						CCTATCAGAGTATCTTGTTTC	0.363																																						ENST00000388768.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						c.(1141-1143)Act>Gct		RUN and FYVE domain containing 2							224.0	202.0	209.0					10																	70141060		1884	4128	6012	SO:0001583	missense	55680					nucleus	metal ion binding	g.chr10:70141060T>C	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.1036A>G	10.37:g.70141060T>C	ENSP00000473462:p.Thr346Ala					RUFY2_ENST00000399200.2_Missense_Mutation_p.T312A|RUFY2_ENST00000454950.2_Missense_Mutation_p.T288A|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000602465.1_Missense_Mutation_p.T346A	p.T381A	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN			11	1467	-			395					B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Missense_Mutation	SNP	ENST00000602465.1	37	c.1141A>G		.	.	.	.	.	.	.	.	.	.	T	16.42	3.118100	0.56505	.	.	ENSG00000204130	ENST00000388768;ENST00000399200;ENST00000454950	T;T;T	0.52983	0.64;1.63;1.17	5.29	4.16	0.48862	.	0.051123	0.85682	N	0.000000	T	0.56717	0.2004	L	0.44542	1.39	0.58432	D	0.999999	D;D;B;B	0.61697	0.984;0.99;0.004;0.011	D;D;B;B	0.73380	0.956;0.98;0.011;0.016	T	0.51585	-0.8687	10	0.31617	T	0.26	.	10.9779	0.47478	0.0:0.0731:0.0:0.9269	.	288;346;312;381	B4DFR0;Q8WXA3-2;Q8WXA3-4;Q8WXA3-3	.;.;.;.	A	381;312;288	ENSP00000373420:T381A;ENSP00000382151:T312A;ENSP00000404986:T288A	ENSP00000373420:T381A	T	-	1	0	RUFY2	69811066	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	3.072000	0.50049	1.027000	0.39758	0.477000	0.44152	ACT		0.363	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		9	101	0	0	0	0.006214	0	9	101				
SEMA3C	10512	broad.mit.edu	37	7	80546045	80546045	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr7:80546045C>T	ENST00000265361.3	-	2	614	c.53G>A	c.(52-54)tGt>tAt	p.C18Y	SEMA3C_ENST00000487621.1_5'UTR|SEMA3C_ENST00000419255.2_Missense_Mutation_p.C18Y|SEMA3C_ENST00000536800.1_De_novo_Start_InFrame|SEMA3C_ENST00000544525.1_Missense_Mutation_p.C36Y	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	18					axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCCTTTCACACAGATAGAACA	0.348																																						ENST00000265361.3																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(52-54)tGt>tAt		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C							114.0	107.0	109.0					7																	80546045		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80546045C>T	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.53G>A	7.37:g.80546045C>T	ENSP00000265361:p.Cys18Tyr					SEMA3C_ENST00000487621.1_5'UTR|SEMA3C_ENST00000536800.1_De_novo_Start_InFrame|SEMA3C_ENST00000419255.2_Missense_Mutation_p.C18Y|SEMA3C_ENST00000544525.1_Missense_Mutation_p.C36Y	p.C18Y	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN			2	614	-			18					B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.53G>A	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	C	1.902	-0.452841	0.04540	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.26223	1.77;1.77;1.75	5.39	0.317	0.15861	.	0.524999	0.21015	N	0.081606	T	0.09905	0.0243	N	0.08118	0	0.58432	D	0.999999	B;B	0.16802	0.019;0.01	B;B	0.16289	0.015;0.007	T	0.24404	-1.0161	10	0.23891	T	0.37	.	4.7477	0.13045	0.1092:0.5247:0.2317:0.1344	.	36;18	F5H1Z7;Q99985	.;SEM3C_HUMAN	Y	18;18;36	ENSP00000265361:C18Y;ENSP00000411193:C18Y;ENSP00000445649:C36Y	ENSP00000265361:C18Y	C	-	2	0	SEMA3C	80383981	0.928000	0.31464	0.061000	0.19648	0.139000	0.21198	-0.117000	0.10708	-0.417000	0.07461	-2.801000	0.00113	TGT		0.348	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		9	54	0	0	0	0.000978	0	9	54				
CERS3	204219	broad.mit.edu	37	15	101016321	101016321	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr15:101016321T>A	ENST00000394113.1	-	10	1269	c.579A>T	c.(577-579)ttA>ttT	p.L193F	CERS3_ENST00000284382.4_Missense_Mutation_p.L193F|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000538112.2_Missense_Mutation_p.L193F			Q8IU89	CERS3_HUMAN	ceramide synthase 3	193	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CAAGTCTAAATAACAGAGACC	0.363																																						ENST00000284382.4																			0											c.(577-579)ttA>ttT		ceramide synthase 3							69.0	77.0	75.0					15																	101016321		2203	4298	6501	SO:0001583	missense	204219					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr15:101016321T>A		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.579A>T	15.37:g.101016321T>A	ENSP00000377672:p.Leu193Phe					CERS3_ENST00000394113.1_Missense_Mutation_p.L193F|CERS3_ENST00000538112.2_Missense_Mutation_p.L193F|CERS3_ENST00000560944.1_Intron	p.L193F	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN			9	1002	-			193			TLC.		Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	c.579A>T	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.207396	0.58343	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	D;D	0.87650	-2.28;-2.28	5.36	-2.65	0.06095	TRAM/LAG1/CLN8 homology domain (3);	0.469368	0.21918	N	0.067211	D	0.84853	0.5564	L	0.55017	1.72	0.42417	D	0.992625	P	0.42518	0.782	P	0.46585	0.521	T	0.81927	-0.0709	10	0.72032	D	0.01	-0.8791	11.8403	0.52350	0.0:0.7263:0.1276:0.1461	.	193	Q8IU89	CERS3_HUMAN	F	193;204;193	ENSP00000284382:L193F;ENSP00000437640:L193F	ENSP00000284382:L193F	L	-	3	2	CERS3	98833844	0.974000	0.33945	0.036000	0.18154	0.633000	0.38033	0.016000	0.13377	-0.587000	0.05890	-0.326000	0.08463	TTA		0.363	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		7	97	0	0	0	0.003080	0	7	97				
GPR139	124274	broad.mit.edu	37	16	20043921	20043921	+	Silent	SNP	G	G	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr16:20043921G>C	ENST00000570682.1	-	2	498	c.198C>G	c.(196-198)ctC>ctG	p.L66L		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	66					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CGAGTGCCAAGAGATAGTTGT	0.468																																						ENST00000570682.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(196-198)ctC>ctG		G protein-coupled receptor 139							69.0	70.0	69.0					16																	20043921		2203	4300	6503	SO:0001819	synonymous_variant	124274					integral to membrane|plasma membrane		g.chr16:20043921G>C	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.198C>G	16.37:g.20043921G>C							p.L66L	NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN			2	498	-			66					A8K5R9|Q86SP2|Q8TDU8	Silent	SNP	ENST00000570682.1	37	c.198C>G	CCDS32398.1																																																																																				0.468	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		3	44	0	0	0	0.004672	0	3	44				
EXTL1	2134	broad.mit.edu	37	1	26349468	26349468	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr1:26349468C>G	ENST00000374280.3	+	1	1198	c.331C>G	c.(331-333)Cat>Gat	p.H111D		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	111					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTGAGACTCATCGCAGGAT	0.577																																						ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(331-333)Cat>Gat		exostosin-like glycosyltransferase 1							81.0	83.0	83.0					1																	26349468		2203	4300	6503	SO:0001583	missense	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26349468C>G	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.331C>G	1.37:g.26349468C>G	ENSP00000363398:p.His111Asp						p.H111D	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	1	1198	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	111					Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	c.331C>G	CCDS271.1	.	.	.	.	.	.	.	.	.	.	C	8.941	0.965774	0.18583	.	.	ENSG00000158008	ENST00000374280	D	0.97256	-4.31	5.32	4.4	0.53042	.	0.487586	0.23169	N	0.051156	D	0.94663	0.8279	L	0.51422	1.61	0.20638	N	0.999877	P	0.38335	0.627	B	0.42062	0.374	D	0.90296	0.4326	10	0.62326	D	0.03	-0.001	4.6687	0.12678	0.0:0.6227:0.1957:0.1817	.	111	Q92935	EXTL1_HUMAN	D	111	ENSP00000363398:H111D	ENSP00000363398:H111D	H	+	1	0	EXTL1	26222055	1.000000	0.71417	0.003000	0.11579	0.010000	0.07245	5.762000	0.68809	1.461000	0.47929	-0.165000	0.13383	CAT		0.577	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		5	58	0	0	0	0.000602	0	5	58				
FAP	2191	broad.mit.edu	37	2	163039967	163039967	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr2:163039967T>G	ENST00000188790.4	-	21	2033	c.1826A>C	c.(1825-1827)gAa>gCa	p.E609A	FAP_ENST00000443424.1_Missense_Mutation_p.E584A	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GAAACCCATTTCTATGAATTT	0.284																																						ENST00000188790.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.(1825-1827)gAa>gCa		fibroblast activation protein, alpha							64.0	73.0	70.0					2																	163039967		2202	4294	6496	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163039967T>G	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1826A>C	2.37:g.163039967T>G	ENSP00000188790:p.Glu609Ala					FAP_ENST00000443424.1_Missense_Mutation_p.E584A	p.E609A	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN			21	2033	-			609						Missense_Mutation	SNP	ENST00000188790.4	37	c.1826A>C	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	T	10.04	1.241936	0.22796	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.43688	0.94;0.94	5.59	5.59	0.84812	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.303911	0.37955	N	0.001878	T	0.30947	0.0781	N	0.25647	0.755	0.46701	D	0.999169	B;B;B	0.09022	0.001;0.0;0.002	B;B;B	0.15870	0.014;0.001;0.013	T	0.07597	-1.0764	10	0.38643	T	0.18	-11.7812	11.9784	0.53105	0.0:0.0:0.1445:0.8555	.	584;88;609	B4DLR2;Q12884-2;Q12884	.;.;SEPR_HUMAN	A	609;584	ENSP00000188790:E609A;ENSP00000411391:E584A	ENSP00000188790:E609A	E	-	2	0	FAP	162748213	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	5.700000	0.68318	2.231000	0.72958	0.533000	0.62120	GAA		0.284	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			4	81	0	0	0	0.000248	0	4	81				
CSMD3	114788	broad.mit.edu	37	8	113249436	113249436	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr8:113249436A>T	ENST00000297405.5	-	67	10854	c.10610T>A	c.(10609-10611)aTg>aAg	p.M3537K	CSMD3_ENST00000352409.3_Missense_Mutation_p.M3467K|CSMD3_ENST00000455883.2_Missense_Mutation_p.M3368K|CSMD3_ENST00000343508.3_Missense_Mutation_p.M3497K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3537						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAGCAGCTCCATGTTGCTATT	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10609-10611)aTg>aAg		CUB and Sushi multiple domains 3							206.0	188.0	194.0					8																	113249436		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113249436A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10610T>A	8.37:g.113249436A>T	ENSP00000297405:p.Met3537Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Missense_Mutation_p.M3368K|CSMD3_ENST00000343508.3_Missense_Mutation_p.M3497K|CSMD3_ENST00000352409.3_Missense_Mutation_p.M3467K	p.M3537K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			67	10854	-			3537					Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10610T>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	16.04	3.010127	0.54361	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.25085	2.13;2.12;2.15;1.82;2.14	4.87	4.87	0.63330	.	0.057242	0.64402	D	0.000003	T	0.15089	0.0364	N	0.14661	0.345	0.47584	D	0.999467	B;B;P	0.37122	0.029;0.018;0.583	B;B;B	0.37144	0.033;0.009;0.242	T	0.06481	-1.0824	10	0.41790	T	0.15	.	9.1911	0.37200	0.919:0.0:0.081:0.0	.	3368;3537;3497	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	3497;3537;2807;3368;3467	ENSP00000345799:M3497K;ENSP00000297405:M3537K;ENSP00000341558:M2807K;ENSP00000412263:M3368K;ENSP00000343124:M3467K	ENSP00000297405:M3537K	M	-	2	0	CSMD3	113318612	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.093000	0.71422	2.034000	0.60081	0.383000	0.25322	ATG		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	94	0	0	0	0.000248	0	4	94				
NID2	22795	broad.mit.edu	37	14	52508964	52508964	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr14:52508964C>T	ENST00000216286.5	-	7	1683	c.1684G>A	c.(1684-1686)Gat>Aat	p.D562N	NID2_ENST00000541773.1_Missense_Mutation_p.D509N	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	562	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GCTCTGCCATCATTGCCCACG	0.597																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(1684-1686)Gat>Aat		nidogen 2 (osteonidogen)							130.0	134.0	133.0					14																	52508964		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52508964C>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1684G>A	14.37:g.52508964C>T	ENSP00000216286:p.Asp562Asn					NID2_ENST00000541773.1_Missense_Mutation_p.D509N	p.D562N	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			7	1683	-	Breast(41;0.0639)|all_epithelial(31;0.123)		562			Nidogen G2 beta-barrel.		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.1684G>A	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	35	5.433587	0.96150	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	T;T	0.33216	1.42;1.42	6.17	6.17	0.99709	G2 nidogen/fibulin G2F (3);Green fluorescent protein-like (1);	0.042507	0.85682	D	0.000000	T	0.63721	0.2535	M	0.85630	2.765	0.58432	D	0.999999	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.982;0.999;1.0;0.992	T	0.64732	-0.6338	10	0.62326	D	0.03	.	20.4745	0.99168	0.0:1.0:0.0:0.0	.	156;509;564;562	E7EPP3;Q14112-2;Q5CZI2;Q14112	.;.;.;NID2_HUMAN	N	562;156;509;564	ENSP00000216286:D562N;ENSP00000443730:D509N	ENSP00000216286:D562N	D	-	1	0	NID2	51578714	1.000000	0.71417	0.728000	0.30774	0.765000	0.43378	5.710000	0.68392	2.941000	0.99782	0.655000	0.94253	GAT		0.597	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			16	198	0	0	0	0.004007	0	16	198				
SSX6	280657	broad.mit.edu	37	X	47972589	47972589	+	IGR	SNP	G	G	A			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chrX:47972589G>A								snoU13 (31350 upstream) : SSX6 (3876 downstream)																							AACGTCCTCAGATGACTTTTG	0.448													.|||	1	0.000264901	0.0	0.0	3775	,	,		14282	0.0		0.0	False		,,,				2504	0.001					ENST00000319275.3																			0				large_intestine(6)|lung(4)|skin(2)|stomach(1)	13															122.0	133.0	129.0					X																	47972589		1506	2701	4207	SO:0001628	intergenic_variant	280657							g.chrX:47972589G>A																													X.37:g.47972589G>A						SSX6_ENST00000376932.2_Silent_p.Q98Q								0	366	+									Translation_Start_Site	SNP		37																																																																																					0	0.448									9	101	0	0	0	0.000978	0	9	101				
ARHGAP20	57569	broad.mit.edu	37	11	110450456	110450456	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr11:110450456C>T	ENST00000260283.4	-	16	3498	c.3214G>A	c.(3214-3216)Gag>Aag	p.E1072K	ARHGAP20_ENST00000527598.1_Missense_Mutation_p.E1036K|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.E1049K|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.E1036K|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.E615K|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.E1046K|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.E1046K	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1072					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GGGGGTGGCTCTAAGGGTCCT	0.498																																						ENST00000260283.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60						c.(3214-3216)Gag>Aag		Rho GTPase activating protein 20							91.0	101.0	98.0					11																	110450456		2201	4298	6499	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110450456C>T	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.3214G>A	11.37:g.110450456C>T	ENSP00000260283:p.Glu1072Lys					ARHGAP20_ENST00000528829.1_Missense_Mutation_p.E1036K|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.E1046K|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.E1046K|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.E1049K|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.E615K|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.E1036K	p.E1072K	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	16	3498	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	1072					A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.3214G>A	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767195	0.69878	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.12147	2.71;2.72;2.74;2.71;2.72;2.72;2.72	5.9	4.98	0.66077	.	0.164045	0.39985	N	0.001212	T	0.15132	0.0365	L	0.60455	1.87	0.19575	N	0.999968	P;B;B	0.38195	0.622;0.256;0.25	B;B;B	0.38194	0.267;0.055;0.117	T	0.21143	-1.0254	10	0.66056	D	0.02	.	7.6219	0.28189	0.0:0.7167:0.1376:0.1457	.	1046;1072;1049	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	K	1072;1046;615;1049;1036;1046;1036	ENSP00000260283:E1072K;ENSP00000349660:E1046K;ENSP00000437905:E615K;ENSP00000432076:E1049K;ENSP00000436319:E1036K;ENSP00000436522:E1046K;ENSP00000431399:E1036K	ENSP00000260283:E1072K	E	-	1	0	ARHGAP20	109955666	0.805000	0.28982	0.048000	0.18961	0.588000	0.36517	2.087000	0.41653	1.518000	0.48934	0.650000	0.86243	GAG		0.498	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		7	159	0	0	0	0.004482	0	7	159				
SHARPIN	81858	broad.mit.edu	37	8	145154650	145154650	+	Silent	SNP	C	C	G	rs554522364		TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr8:145154650C>G	ENST00000398712.2	-	4	1051	c.615G>C	c.(613-615)ctG>ctC	p.L205L	SHARPIN_ENST00000533948.1_5'UTR	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	205	Interaction with SHANK1. {ECO:0000250}.				apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTGAACACTCAGGGCCACAC	0.652																																						ENST00000398712.2																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7						c.(613-615)ctG>ctC		SHANK-associated RH domain interactor							50.0	61.0	57.0					8																	145154650		2097	4206	6303	SO:0001819	synonymous_variant	81858				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding	g.chr8:145154650C>G	AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.615G>C	8.37:g.145154650C>G						SHARPIN_ENST00000533948.1_5'UTR	p.L205L	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		4	1051	-	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		205			Interaction with SHANK1 (By similarity).		A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Silent	SNP	ENST00000398712.2	37	c.615G>C	CCDS43777.1																																																																																				0.652	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382901.1	NM_030974		3	74	0	0	0	0.000248	0	3	74				
RP11-24M17.5	0	broad.mit.edu	37	15	76067930	76067930	+	RNA	SNP	C	C	A			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr15:76067930C>A	ENST00000395215.3	+	0	37																											TGGAGGTGTTCGCTGATGTGG	0.537																																						ENST00000395215.3																			0																																																			0							g.chr15:76067930C>A																													15.37:g.76067930C>A														0	37	+									RNA	SNP	ENST00000395215.3	37																																																																																						0.537	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			5	60	1	0	3.59834e-05	0.001168	4.93618e-05	5	60				
PCDHB2	56133	broad.mit.edu	37	5	140476001	140476001	+	Silent	SNP	T	T	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr5:140476001T>C	ENST00000194155.4	+	1	1775	c.1627T>C	c.(1627-1629)Ttg>Ctg	p.L543L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	543	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCCCGGCGTTGAGCAGCGA	0.706																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1627-1629)Ttg>Ctg									39.0	43.0	42.0					5																	140476001		2200	4298	6498	SO:0001819	synonymous_variant	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476001T>C	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1627T>C	5.37:g.140476001T>C							p.L543L	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1775	+			543			Cadherin 5.		Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.1627T>C	CCDS4244.1																																																																																				0.706	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		6	89	0	0	0	0.004482	0	6	89				
RIMS1	22999	broad.mit.edu	37	6	72968708	72968708	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr6:72968708C>T	ENST00000521978.1	+	18	2947	c.2947C>T	c.(2947-2949)Cca>Tca	p.P983S	RIMS1_ENST00000517960.1_Missense_Mutation_p.P982S|RIMS1_ENST00000517827.1_Missense_Mutation_p.P442S|RIMS1_ENST00000523963.1_Missense_Mutation_p.P457S|RIMS1_ENST00000518273.1_Missense_Mutation_p.P983S|RIMS1_ENST00000264839.7_Missense_Mutation_p.P983S|RIMS1_ENST00000522291.1_Missense_Mutation_p.P982S|RIMS1_ENST00000491071.2_Missense_Mutation_p.P983S|RIMS1_ENST00000401910.3_Missense_Mutation_p.P456S|RIMS1_ENST00000520567.1_Missense_Mutation_p.P982S|RIMS1_ENST00000425662.2_Missense_Mutation_p.P376S|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000348717.5_Missense_Mutation_p.P982S	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	983					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGAAATTCATCCAACAAGAAG	0.388																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(2947-2949)Cca>Tca		regulating synaptic membrane exocytosis 1							129.0	128.0	128.0					6																	72968708		1916	4125	6041	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72968708C>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2947C>T	6.37:g.72968708C>T	ENSP00000428417:p.Pro983Ser					RIMS1_ENST00000518273.1_Missense_Mutation_p.P983S|RIMS1_ENST00000523963.1_Missense_Mutation_p.P457S|RIMS1_ENST00000491071.2_Missense_Mutation_p.P983S|RIMS1_ENST00000517960.1_Missense_Mutation_p.P982S|RIMS1_ENST00000517827.1_Missense_Mutation_p.P442S|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000425662.2_Missense_Mutation_p.P376S|RIMS1_ENST00000522291.1_Missense_Mutation_p.P982S|RIMS1_ENST00000401910.3_Missense_Mutation_p.P456S|RIMS1_ENST00000348717.5_Missense_Mutation_p.P982S|RIMS1_ENST00000521978.1_Missense_Mutation_p.P983S|RIMS1_ENST00000520567.1_Missense_Mutation_p.P982S	p.P983S			Q86UR5	RIMS1_HUMAN			18	2947	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	983					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.2947C>T	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.49|14.49	2.550245|2.550245	0.45383|0.45383	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420|ENST00000517433	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.16196|.	2.61;2.75;2.72;2.75;2.76;2.78;2.75;2.71;2.77;2.78;2.75;2.64;2.74;2.36|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.091258|.	0.47093|.	D|.	0.000249|.	T|T	0.45054|0.45054	0.1323|0.1323	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	B;B;P;B;B;B;B;B;B;B;P;B|.	0.38300|.	0.002;0.018;0.485;0.003;0.001;0.027;0.304;0.059;0.376;0.0;0.626;0.148|.	B;B;B;B;B;B;B;B;B;B;B;B|.	0.37888|.	0.004;0.017;0.26;0.005;0.004;0.04;0.077;0.029;0.141;0.004;0.219;0.05|.	T|T	0.35001|0.35001	-0.9806|-0.9806	10|5	0.08837|.	T|.	0.75|.	-16.0319|-16.0319	19.5526|19.5526	0.95328|0.95328	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	442;457;983;442;456;982;235;983;982;236;983;983|.	B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.	S|F	983;983;983;982;983;982;983;982;983;982;982;983;456;457;376;376;442;208|556	ENSP00000430101:P983S;ENSP00000275037:P982S;ENSP00000264839:P983S;ENSP00000429959:P982S;ENSP00000430408:P983S;ENSP00000430502:P982S;ENSP00000430932:P982S;ENSP00000428417:P983S;ENSP00000385649:P456S;ENSP00000428328:P457S;ENSP00000411235:P376S;ENSP00000389503:P376S;ENSP00000428367:P442S;ENSP00000359448:P208S|.	ENSP00000264839:P983S|.	P|S	+|+	1|2	0|0	RIMS1|RIMS1	73025429|73025429	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	5.610000|5.610000	0.67668|0.67668	2.701000|2.701000	0.92244|0.92244	0.563000|0.563000	0.77884|0.77884	CCA|TCC		0.388	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			6	90	0	0	0	0.001168	0	6	90				
PLPPR1	54886	broad.mit.edu	37	9	104075140	104075140	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr9:104075140C>A	ENST00000374874.3	+	6	1136	c.697C>A	c.(697-699)Ctc>Atc	p.L233I	LPPR1_ENST00000395056.2_Missense_Mutation_p.L233I	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		233					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										GGTGCTGTGCCTCGGAACTCT	0.567																																						ENST00000374874.3																			0											c.(697-699)Ctc>Atc									134.0	125.0	128.0					9																	104075140		2203	4300	6503	SO:0001583	missense	54886					integral to membrane	catalytic activity	g.chr9:104075140C>A																												ENST00000374874.3:c.697C>A	9.37:g.104075140C>A	ENSP00000364008:p.Leu233Ile					LPPR1_ENST00000395056.2_Missense_Mutation_p.L233I	p.L233I	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN			6	1136	+			233					Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000374874.3	37	c.697C>A	CCDS6751.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692586	0.88735	.	.	ENSG00000148123	ENST00000374874;ENST00000374871;ENST00000395056	T;T	0.75260	-0.92;-0.92	5.8	3.95	0.45737	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.64402	D	0.000004	T	0.81118	0.4756	L	0.53671	1.685	0.51233	D	0.999911	D;P	0.76494	0.999;0.945	D;P	0.71414	0.973;0.53	T	0.80148	-0.1503	10	0.52906	T	0.07	-9.4772	11.0897	0.48108	0.0:0.8612:0.0:0.1388	.	217;233	B7Z8P4;Q8TBJ4	.;LPPR1_HUMAN	I	233	ENSP00000364008:L233I;ENSP00000378496:L233I	ENSP00000364005:L233I	L	+	1	0	RP11-35N6.1	103114961	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	2.485000	0.45250	0.784000	0.33661	0.462000	0.41574	CTC		0.567	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1			10	94	1	0	0.00136819	0.001368	0.00174282	10	94				
PCDHGA4	56111	broad.mit.edu	37	5	140734835	140734835	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr5:140734835T>C	ENST00000571252.1	+	1	68	c.68T>C	c.(67-69)cTg>cCg	p.L23P	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	23					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGGGTTCTGGTGGAAATC	0.637																																						ENST00000571252.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(67-69)cTg>cCg									36.0	43.0	41.0					5																	140734835		2015	4210	6225	SO:0001583	missense	56111							g.chr5:140734835T>C	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.68T>C	5.37:g.140734835T>C	ENSP00000458570:p.Leu23Pro					PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.L23P	NM_018917.2	NP_061740.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	68	+								Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.68T>C	CCDS58979.1																																																																																				0.637	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		6	73	0	0	0	0.001168	0	6	73				
ATP5G3	518	broad.mit.edu	37	2	176043850	176043850	+	Silent	SNP	T	T	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr2:176043850T>C	ENST00000284727.4	-	4	3273	c.249A>G	c.(247-249)gtA>gtG	p.V83V	ATP5G3_ENST00000392541.3_Silent_p.V83V|ATP5G3_ENST00000409194.1_Silent_p.V83V|Y_RNA_ENST00000363251.1_RNA	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	83					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			CAGCCACTCCTACTGTTGCAG	0.443																																					GBM(30;387 605 18606 28805 47989)	ENST00000284727.4																			0				large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						c.(247-249)gtA>gtG		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)							101.0	95.0	97.0					2																	176043850		2203	4300	6503	SO:0001819	synonymous_variant	518				ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding	g.chr2:176043850T>C	BC106881	CCDS2263.1	2q31.1	2012-10-12	2010-06-11		ENSG00000154518	ENSG00000154518		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	843	protein-coding gene	gene with protein product		602736	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) isoform 3"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)"""			7698763	Standard	NM_001002258		Approved		uc002ujz.4	P48201	OTTHUMG00000132425	ENST00000284727.4:c.249A>G	2.37:g.176043850T>C						ATP5G3_ENST00000392541.3_Silent_p.V83V|ATP5G3_ENST00000409194.1_Silent_p.V83V	p.V83V	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.147)		4	3273	-			83					B2R4Z0|D3DPF0|Q4ZFX7	Silent	SNP	ENST00000284727.4	37	c.249A>G	CCDS2263.1																																																																																				0.443	ATP5G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255563.1	NM_001689		3	67	0	0	0	0.004672	0	3	67				
USP53	54532	broad.mit.edu	37	4	120169908	120169908	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr4:120169908A>G	ENST00000274030.6	+	7	1422	c.243A>G	c.(241-243)atA>atG	p.I81M	USP53_ENST00000450251.1_Missense_Mutation_p.I81M	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						CCCAGACGATATTTGCACAGT	0.378																																						ENST00000450251.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						c.(241-243)atA>atG		ubiquitin specific peptidase 53							153.0	133.0	140.0					4																	120169908		1915	4119	6034	SO:0001583	missense	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120169908A>G	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.243A>G	4.37:g.120169908A>G	ENSP00000274030:p.Ile81Met					USP53_ENST00000274030.6_Missense_Mutation_p.I81M	p.I81M			Q70EK8	UBP53_HUMAN			3	787	+			81						Missense_Mutation	SNP	ENST00000274030.6	37	c.243A>G	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.307819	0.60305	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.33865	1.39;1.39	6.01	-2.56	0.06268	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.326314	0.38897	N	0.001528	T	0.44891	0.1315	M	0.84683	2.71	0.32489	N	0.54049	P	0.38440	0.631	P	0.50109	0.631	T	0.52155	-0.8613	10	0.72032	D	0.01	-10.4761	2.2436	0.04025	0.3428:0.3163:0.2386:0.1023	.	81	Q70EK8	UBP53_HUMAN	M	81	ENSP00000274030:I81M;ENSP00000409906:I81M	ENSP00000274030:I81M	I	+	3	3	USP53	120389356	0.912000	0.30974	0.846000	0.33378	0.921000	0.55340	0.100000	0.15231	-0.630000	0.05567	0.528000	0.53228	ATA		0.378	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		4	49	0	0	0	0.000248	0	4	49				
HUWE1	10075	broad.mit.edu	37	X	53571698	53571698	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chrX:53571698T>G	ENST00000342160.3	-	71	11531	c.11074A>C	c.(11074-11076)Att>Ctt	p.I3692L	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.I3692L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3692					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GATGCCACAATTACCACATTC	0.483																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(11074-11076)Att>Ctt		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							79.0	65.0	70.0					X																	53571698		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53571698T>G	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.11074A>C	X.37:g.53571698T>G	ENSP00000340648:p.Ile3692Leu					HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.I3692L	p.I3692L			Q7Z6Z7	HUWE1_HUMAN			71	11531	-			3692					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.11074A>C	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	13.78|13.78	2.340473|2.340473	0.41498|0.41498	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.40756|.	1.02;1.02|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.064020|.	0.64402|.	D|.	0.000009|.	T|T	0.69160|0.69160	0.3080|0.3080	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	B;P;P|.	0.38863|.	0.053;0.518;0.65|.	B;P;P|.	0.51079|.	0.01;0.456;0.658|.	T|T	0.68198|0.68198	-0.5472|-0.5472	10|5	0.30078|.	T|.	0.28|.	.|.	13.6255|13.6255	0.62161|0.62161	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	529;3692;3676|.	Q5H935;Q7Z6Z7;Q7Z6Z7-2|.	.;HUWE1_HUMAN;.|.	L|T	3692|2725;529	ENSP00000340648:I3692L;ENSP00000262854:I3692L|.	ENSP00000262854:I3692L|.	I|N	-|-	1|2	0|0	HUWE1|HUWE1	53588423|53588423	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.226000|7.226000	0.78060|0.78060	1.861000|1.861000	0.53984|0.53984	0.433000|0.433000	0.28618|0.28618	ATT|AAT		0.483	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		4	39	0	0	0	0.000248	0	4	39				
PXDNL	137902	broad.mit.edu	37	8	52320759	52320759	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr8:52320759A>G	ENST00000356297.4	-	17	3525	c.3425T>C	c.(3424-3426)aTt>aCt	p.I1142T	PXDNL_ENST00000543296.1_Missense_Mutation_p.I1142T	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1142					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ACCCCTTTGAATGATGGTGGC	0.493																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(3424-3426)aTt>aCt		peroxidasin homolog (Drosophila)-like							92.0	96.0	95.0					8																	52320759		1868	4104	5972	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52320759A>G		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3425T>C	8.37:g.52320759A>G	ENSP00000348645:p.Ile1142Thr					PXDNL_ENST00000543296.1_Missense_Mutation_p.I1142T	p.I1142T	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			17	3525	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1142					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3425T>C	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.103|8.103	0.777090|0.777090	0.16120|0.16120	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000522933|ENST00000356297;ENST00000543296	.|T;T	.|0.79352	.|-1.26;-1.26	3.82|3.82	1.29|1.29	0.21616|0.21616	.|.	.|0.601943	.|0.14523	.|N	.|0.314376	D|D	0.88009|0.88009	0.6322|0.6322	M|M	0.93462|0.93462	3.42|3.42	0.09310|0.09310	N|N	1|1	.|D	.|0.67145	.|0.996	.|D	.|0.72625	.|0.978	T|T	0.76369|0.76369	-0.2984|-0.2984	5|10	.|0.66056	.|D	.|0.02	.|.	4.1627|4.1627	0.10291|0.10291	0.7141:0.0:0.1071:0.1788|0.7141:0.0:0.1071:0.1788	.|.	.|1142	.|A1KZ92	.|PXDNL_HUMAN	L|T	261|1142	.|ENSP00000348645:I1142T;ENSP00000444865:I1142T	.|ENSP00000348645:I1142T	F|I	-|-	1|2	0|0	PXDNL|PXDNL	52483312|52483312	0.998000|0.998000	0.40836|0.40836	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	6.222000|6.222000	0.72249|0.72249	-0.035000|-0.035000	0.13691|0.13691	-1.182000|-1.182000	0.01712|0.01712	TTC|ATT		0.493	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		5	122	0	0	0	0.001984	0	5	122				
CASKIN2	57513	broad.mit.edu	37	17	73499583	73499583	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr17:73499583G>T	ENST00000321617.3	-	17	2292	c.1706C>A	c.(1705-1707)gCa>gAa	p.A569E	CASKIN2_ENST00000433559.2_Missense_Mutation_p.A487E	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	569	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGCCCCAGTGCACACAGCCA	0.642																																						ENST00000321617.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1705-1707)gCa>gAa		CASK interacting protein 2							31.0	30.0	30.0					17																	73499583		2200	4291	6491	SO:0001583	missense	57513					cytoplasm		g.chr17:73499583G>T	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.1706C>A	17.37:g.73499583G>T	ENSP00000325355:p.Ala569Glu					CASKIN2_ENST00000433559.2_Missense_Mutation_p.A487E	p.A569E	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		17	2292	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		569			SAM 2.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.1706C>A	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537464	0.65085	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.49720	0.77;0.77	4.79	3.82	0.43975	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.46442	D	0.000293	T	0.46580	0.1400	L	0.60904	1.88	0.80722	D	1	P	0.41748	0.761	P	0.44359	0.447	T	0.44003	-0.9356	10	0.51188	T	0.08	.	8.4422	0.32822	0.0791:0.0:0.7686:0.1523	.	569	Q8WXE0	CSKI2_HUMAN	E	569;487	ENSP00000325355:A569E;ENSP00000406963:A487E	ENSP00000325355:A569E	A	-	2	0	CASKIN2	71011178	0.996000	0.38824	0.959000	0.39883	0.990000	0.78478	3.293000	0.51779	1.130000	0.42092	0.655000	0.94253	GCA		0.642	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		4	41	1	0	1.024e-07	0.000602	1.44168e-07	4	41				
CSMD3	114788	broad.mit.edu	37	8	113662433	113662433	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr8:113662433G>T	ENST00000297405.5	-	19	3394	c.3150C>A	c.(3148-3150)tgC>tgA	p.C1050*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.C1050*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.C946*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.C1010*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1050	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTTTTTTTCGCATAGAAGGG	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(3148-3150)tgC>tgA		CUB and Sushi multiple domains 3							114.0	112.0	113.0					8																	113662433		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113662433G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3150C>A	8.37:g.113662433G>T	ENSP00000297405:p.Cys1050*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Nonsense_Mutation_p.C946*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.C1010*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.C1050*	p.C1050*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			19	3394	-			1050			Sushi 5.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.3150C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	42	9.594862	0.99214	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.74	2.1	0.27182	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5624	0.76258	0.9356:0.0:0.0644:0.0	.	.	.	.	X	1010;1050;390;946;1050	.	ENSP00000297405:C1050X	C	-	3	2	CSMD3	113731609	1.000000	0.71417	0.998000	0.56505	0.766000	0.43426	2.634000	0.46528	0.128000	0.18479	-2.262000	0.00279	TGC		0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	90	1	0	0.000602214	0.000602	0.000795518	4	90				
RFXAP	5994	broad.mit.edu	37	13	37399599	37399599	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr13:37399599A>C	ENST00000255476.2	+	2	769	c.635A>C	c.(634-636)cAa>cCa	p.Q212P	RFXAP_ENST00000472888.1_3'UTR	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein	212					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		ATTGTTAAACAAAGAACAGGA	0.318																																						ENST00000255476.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(634-636)cAa>cCa		regulatory factor X-associated protein							107.0	108.0	108.0					13																	37399599		2203	4297	6500	SO:0001583	missense	5994					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr13:37399599A>C	Y12812	CCDS9359.1	13q14	2014-09-17			ENSG00000133111	ENSG00000133111			9988	protein-coding gene	gene with protein product		601861				9118943	Standard	NM_000538		Approved		uc001uvu.1	O00287	OTTHUMG00000016738	ENST00000255476.2:c.635A>C	13.37:g.37399599A>C	ENSP00000255476:p.Gln212Pro					RFXAP_ENST00000472888.1_3'UTR	p.Q212P	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)	2	769	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	212					B2R9T8|Q5VZM6|Q8TC40	Missense_Mutation	SNP	ENST00000255476.2	37	c.635A>C	CCDS9359.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.321315	0.81580	.	.	ENSG00000133111	ENST00000255476	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.77018	0.4069	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78991	-0.1985	9	0.72032	D	0.01	-14.5064	15.1871	0.73012	1.0:0.0:0.0:0.0	.	212	O00287	RFXAP_HUMAN	P	212	.	ENSP00000255476:Q212P	Q	+	2	0	RFXAP	36297599	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.935000	0.87658	2.266000	0.75297	0.533000	0.62120	CAA		0.318	RFXAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044521.1	NM_000538		4	81	0	0	0	0.000602	0	4	81				
SENP5	205564	broad.mit.edu	37	3	196612189	196612189	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr3:196612189G>A	ENST00000323460.5	+	2	386	c.137G>A	c.(136-138)aGg>aAg	p.R46K	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.R46K	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	46					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AAGCTGGGAAGGCCAGTTACT	0.413																																					Ovarian(47;891 1095 11174 13858 51271)	ENST00000323460.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32						c.(136-138)aGg>aAg		SUMO1/sentrin specific peptidase 5							87.0	88.0	88.0					3																	196612189		2203	4300	6503	SO:0001583	missense	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196612189G>A	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.137G>A	3.37:g.196612189G>A	ENSP00000327197:p.Arg46Lys					SENP5_ENST00000445299.2_Missense_Mutation_p.R46K|SENP5_ENST00000419026.1_Intron	p.R46K	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	2	386	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		46					B4DY82|Q96SA5	Missense_Mutation	SNP	ENST00000323460.5	37	c.137G>A	CCDS3322.1	.	.	.	.	.	.	.	.	.	.	G	8.044	0.764530	0.15914	.	.	ENSG00000119231	ENST00000323460;ENST00000445299	T;T	0.23348	2.25;1.91	5.18	3.37	0.38596	.	0.284712	0.32147	N	0.006506	T	0.17619	0.0423	N	0.24115	0.695	0.80722	D	1	B;B	0.31318	0.319;0.039	B;B	0.24701	0.055;0.024	T	0.04915	-1.0918	10	0.59425	D	0.04	-8.2623	14.3242	0.66507	0.0:0.2827:0.7173:0.0	.	46;46	B4DY82;Q96HI0	.;SENP5_HUMAN	K	46	ENSP00000327197:R46K;ENSP00000390231:R46K	ENSP00000327197:R46K	R	+	2	0	SENP5	198096586	1.000000	0.71417	1.000000	0.80357	0.596000	0.36781	2.195000	0.42677	0.827000	0.34685	-0.150000	0.13652	AGG		0.413	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		4	46	0	0	0	0.000602	0	4	46				
ALPK2	115701	broad.mit.edu	37	18	56203268	56203268	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr18:56203268T>C	ENST00000361673.3	-	5	4364	c.4151A>G	c.(4150-4152)gAt>gGt	p.D1384G	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1384						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGCAGTGTGATCCATCTTGAG	0.428																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(4150-4152)gAt>gGt		alpha-kinase 2							107.0	106.0	107.0					18																	56203268		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56203268T>C	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.4151A>G	18.37:g.56203268T>C	ENSP00000354991:p.Asp1384Gly					RP11-1151B14.4_ENST00000591360.1_RNA	p.D1384G	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			5	4364	-			1384					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.4151A>G	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	t	15.13	2.742173	0.49151	.	.	ENSG00000198796	ENST00000361673	T	0.42900	0.96	5.77	-11.5	0.00074	.	2.619140	0.01166	N	0.006750	T	0.28699	0.0711	L	0.48642	1.525	0.09310	N	1	B;B	0.20988	0.05;0.003	B;B	0.18561	0.022;0.003	T	0.04752	-1.0929	10	0.25106	T	0.35	0.2305	7.0916	0.25287	0.0826:0.1917:0.5334:0.1922	.	1379;1384	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	G	1384	ENSP00000354991:D1384G	ENSP00000354991:D1384G	D	-	2	0	ALPK2	54354248	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.018000	0.01444	-1.695000	0.01423	-0.470000	0.05040	GAT		0.428	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		4	118	0	0	0	0.001984	0	4	118				
KIR3DX1	90011	broad.mit.edu	37	19	55048220	55048220	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr19:55048220G>C	ENST00000335056.3	+	5	825	c.787G>C	c.(787-789)Gga>Cga	p.G263R	KIR3DX1_ENST00000482404.1_3'UTR			Q9H7L2	KI3X1_HUMAN	killer cell immunoglobulin-like receptor, three domains, X1	263	Ig-like C2-type 2.					extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GGTTGCTCATGGACAGTGGCT	0.557																																					Colon(183;529 2002 28270 32358 35845)|Esophageal Squamous(50;443 1006 2278 10294 37938)	ENST00000335056.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24						c.(787-789)Gga>Cga									90.0	90.0	90.0					19																	55048220		1976	4160	6136	SO:0001583	missense	90011							g.chr19:55048220G>C	BC033195		19q13.42	2013-03-26	2006-09-12	2006-09-12	ENSG00000104970	ENSG00000104970		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	25043	other	unknown			"""leukocyte receptor cluster (LRC) member 12"""	LENG12		11441184	Standard	NR_026716		Approved	FLJ00060	uc010erm.2	Q9H7L2	OTTHUMG00000065696	ENST00000335056.3:c.787G>C	19.37:g.55048220G>C	ENSP00000335388:p.Gly263Arg					KIR3DX1_ENST00000482404.1_3'UTR	p.G263R						GBM - Glioblastoma multiforme(193;0.099)	5	825	+								B7WNL0|Q8N0S4	Missense_Mutation	SNP	ENST00000335056.3	37	c.787G>C		.	.	.	.	.	.	.	.	.	.	G	9.477	1.097198	0.20552	.	.	ENSG00000104970	ENST00000335056	T	0.03181	4.02	1.9	0.837	0.18896	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.11367	0.0277	.	.	.	0.09310	N	1	D	0.71674	0.998	D	0.77004	0.989	T	0.15867	-1.0422	8	0.72032	D	0.01	.	4.3511	0.11157	0.207:0.0:0.793:0.0	.	263	Q9H7L2	KI3X1_HUMAN	R	263	ENSP00000335388:G263R	ENSP00000221567:G263R	G	+	1	0	KIR3DX1	59740032	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.183000	0.09712	0.380000	0.24823	-0.142000	0.14014	GGA		0.557	KIR3DX1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000140800.2	NR_026716		4	94	0	0	0	0.000602	0	4	94				
CD8A	925	broad.mit.edu	37	2	87013080	87013080	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr2:87013080G>T	ENST00000409511.2	-	9	1701	c.671C>A	c.(670-672)tCg>tAg	p.S224*	CD8A_ENST00000409781.1_Nonsense_Mutation_p.S187*|CD8A_ENST00000352580.3_Nonsense_Mutation_p.S187*|CD8A_ENST00000283635.3_Nonsense_Mutation_p.S224*|CD8A_ENST00000538832.1_Nonsense_Mutation_p.S265*|CD8A_ENST00000456996.2_Nonsense_Mutation_p.S187*	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	224					antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						CTTGTCTCCCGATTTGACCAC	0.547																																						ENST00000409511.2																			0				lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						c.(670-672)tCg>tAg		CD8a molecule							164.0	161.0	162.0					2																	87013080		2203	4300	6503	SO:0001587	stop_gained	925				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87013080G>T		CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1706	protein-coding gene	gene with protein product		186910	"""CD8 antigen, alpha polypeptide (p32)"", ""T-cell surface glycoprotein CD8 alpha chain"""	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.671C>A	2.37:g.87013080G>T	ENSP00000386559:p.Ser224*					CD8A_ENST00000456996.2_Nonsense_Mutation_p.S187*|CD8A_ENST00000283635.3_Nonsense_Mutation_p.S224*|CD8A_ENST00000352580.3_Nonsense_Mutation_p.S187*|CD8A_ENST00000538832.1_Nonsense_Mutation_p.S265*|CD8A_ENST00000409781.1_Nonsense_Mutation_p.S187*	p.S224*	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN			9	1701	-			224					B4DT80|D6W5M8|Q13970|Q4ZG17	Nonsense_Mutation	SNP	ENST00000409511.2	37	c.671C>A	CCDS1992.1	.	.	.	.	.	.	.	.	.	.	G	41	8.574681	0.98870	.	.	ENSG00000153563	ENST00000456996;ENST00000352580;ENST00000283635;ENST00000409511;ENST00000442577;ENST00000538832;ENST00000409781	.	.	.	3.94	-0.521	0.11931	.	1.259980	0.05539	N	0.565468	.	.	.	.	.	.	0.42441	D	0.992714	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-0.3756	10.8006	0.46487	0.0:0.0:0.2899:0.7101	.	.	.	.	X	187;187;224;224;209;265;187	.	ENSP00000283635:S224X	S	-	2	0	CD8A	86866591	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.623000	0.02040	-0.095000	0.12351	0.655000	0.94253	TCG		0.547	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330784.3	NM_001768		7	163	1	0	5.18039e-06	0.003080	7.19873e-06	7	163				
ATF6	22926	broad.mit.edu	37	1	161928411	161928411	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr1:161928411C>G	ENST00000367942.3	+	16	2047	c.1980C>G	c.(1978-1980)caC>caG	p.H660Q		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	660					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	AGGCAACCCACGTTGTCAGCA	0.522																																						ENST00000367942.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34						c.(1978-1980)caC>caG		activating transcription factor 6							124.0	119.0	121.0					1																	161928411		2203	4300	6503	SO:0001583	missense	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161928411C>G	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1980C>G	1.37:g.161928411C>G	ENSP00000356919:p.His660Gln						p.H660Q	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		16	2047	+	all_hematologic(112;0.156)		660					O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	c.1980C>G	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780824	0.31502	.	.	ENSG00000118217	ENST00000367942	T	0.14266	2.52	5.41	-4.51	0.03483	.	0.073745	0.53938	D	0.000041	T	0.02380	0.0073	L	0.40543	1.245	0.31581	N	0.655146	B	0.14438	0.01	B	0.09377	0.004	T	0.31166	-0.9953	9	0.62326	D	0.03	-4.5891	2.18	0.03872	0.1087:0.2471:0.2141:0.4301	.	660	P18850	ATF6A_HUMAN	Q	660	ENSP00000356919:H660Q	ENSP00000356919:H660Q	H	+	3	2	ATF6	160195035	0.000000	0.05858	0.004000	0.12327	0.270000	0.26580	-1.477000	0.02331	-0.933000	0.03737	-0.145000	0.13849	CAC		0.522	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		5	112	0	0	0	0.000602	0	5	112				
THEG	51298	broad.mit.edu	37	19	371324	371324	+	Splice_Site	SNP	T	T	A			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr19:371324T>A	ENST00000342640.4	-	6	678		c.e6-2		THEG_ENST00000346878.2_Splice_Site	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein						cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGTCGTCCTGGGGGAGGTC	0.582																																						ENST00000342640.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29						c.e6-2		theg spermatid protein							84.0	91.0	88.0					19																	371324		2203	4300	6503	SO:0001630	splice_region_variant	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:371324T>A	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.636-2A>T	19.37:g.371324T>A						THEG_ENST00000346878.2_Splice_Site		NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	678	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)						A6NMJ8	Splice_Site	SNP	ENST00000342640.4	37		CCDS12025.1	.	.	.	.	.	.	.	.	.	.	T	12.57	1.977955	0.34942	.	.	ENSG00000105549	ENST00000342640;ENST00000346878	.	.	.	4.25	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9231	0.41476	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	THEG	322324	0.970000	0.33590	0.719000	0.30619	0.011000	0.07611	2.941000	0.49011	1.914000	0.55421	0.533000	0.62120	.		0.582	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2		Intron	6	163	0	0	0	0.004482	0	6	163				
DNAH14	127602	broad.mit.edu	37	1	225155247	225155247	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr1:225155247A>G	ENST00000445597.2	+	7	994	c.994A>G	c.(994-996)Aaa>Gaa	p.K332E	DNAH14_ENST00000430092.1_Missense_Mutation_p.K205E|DNAH14_ENST00000366848.1_Missense_Mutation_p.K205E|DNAH14_ENST00000439375.2_Missense_Mutation_p.K205E|DNAH14_ENST00000400952.3_Missense_Mutation_p.K205E|DNAH14_ENST00000366850.3_Missense_Mutation_p.K205E|DNAH14_ENST00000366849.1_Intron			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	332					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						TAAACATTGCAAAGAATTTTG	0.323																																						ENST00000430092.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						c.(613-615)Aaa>Gaa		dynein, axonemal, heavy chain 14							144.0	137.0	139.0					1																	225155247		1823	4077	5900	SO:0001583	missense	127602				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|microtubule motor activity	g.chr1:225155247A>G	U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.994A>G	1.37:g.225155247A>G	ENSP00000409472:p.Lys332Glu					DNAH14_ENST00000439375.2_Missense_Mutation_p.K205E|DNAH14_ENST00000366850.3_Missense_Mutation_p.K205E|DNAH14_ENST00000366848.1_Missense_Mutation_p.K205E|DNAH14_ENST00000400952.3_Missense_Mutation_p.K205E|DNAH14_ENST00000366849.1_Intron	p.K205E	NM_001373.1	NP_001364.1	Q0VDD8	DYH14_HUMAN			6	828	+			332					A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	ENST00000445597.2	37	c.613A>G		.	.	.	.	.	.	.	.	.	.	A	4.781	0.145266	0.09134	.	.	ENSG00000185842	ENST00000445597;ENST00000430092;ENST00000366850;ENST00000400952;ENST00000366848;ENST00000439375	T;T;T;T;T;T	0.31247	2.52;1.53;1.5;1.51;1.5;1.53	5.63	3.14	0.36123	.	.	.	.	.	T	0.26738	0.0654	.	.	.	0.09310	N	1	B;P;P	0.50943	0.192;0.94;0.461	B;P;B	0.47015	0.043;0.534;0.191	T	0.05971	-1.0853	8	0.26408	T	0.33	.	7.7555	0.28921	0.7664:0.1503:0.0833:0.0	.	205;205;205	Q0VDD8-4;Q0VDD8-3;Q0VDD8-2	.;.;.	E	332;205;205;205;205;205	ENSP00000409472:K332E;ENSP00000414402:K205E;ENSP00000355815:K205E;ENSP00000383737:K205E;ENSP00000355813:K205E;ENSP00000392061:K205E	ENSP00000355813:K205E	K	+	1	0	DNAH14	223221870	0.987000	0.35691	0.499000	0.27577	0.272000	0.26649	3.049000	0.49869	0.964000	0.38108	0.443000	0.29094	AAA		0.323	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000331217.3	XM_059166		7	71	0	0	0	0.001984	0	7	71				
RYR2	6262	broad.mit.edu	37	1	237777923	237777923	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr1:237777923G>C	ENST00000366574.2	+	37	5812	c.5495G>C	c.(5494-5496)gGc>gCc	p.G1832A	RYR2_ENST00000360064.6_Missense_Mutation_p.G1830A|RYR2_ENST00000542537.1_Missense_Mutation_p.G1816A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1832	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGATCATGGGCATCTTTCAC	0.502																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(5494-5496)gGc>gCc		ryanodine receptor 2 (cardiac)							139.0	132.0	134.0					1																	237777923		1958	4171	6129	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777923G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5495G>C	1.37:g.237777923G>C	ENSP00000355533:p.Gly1832Ala					RYR2_ENST00000360064.6_Missense_Mutation_p.G1830A|RYR2_ENST00000542537.1_Missense_Mutation_p.G1816A	p.G1832A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5812	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1832			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5495G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618702	0.87460	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.73789	-0.78;-0.78;-0.78	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000009	D	0.86843	0.6030	M	0.75884	2.315	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87596	0.2494	10	0.87932	D	0	.	19.6609	0.95871	0.0:0.0:1.0:0.0	.	1832	Q92736	RYR2_HUMAN	A	1832;1830;1816	ENSP00000355533:G1832A;ENSP00000353174:G1830A;ENSP00000443798:G1816A	ENSP00000353174:G1830A	G	+	2	0	RYR2	235844546	1.000000	0.71417	0.963000	0.40424	0.976000	0.68499	9.813000	0.99286	2.665000	0.90641	0.650000	0.86243	GGC		0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		5	160	0	0	0	0.001168	0	5	160				
NPTX2	4885	broad.mit.edu	37	7	98254269	98254269	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr7:98254269G>C	ENST00000265634.3	+	3	844	c.679G>C	c.(679-681)Gtg>Ctg	p.V227L		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	227	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TGCGTTCAAGGTGTCCCTCCC	0.607																																						ENST00000265634.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(679-681)Gtg>Ctg		neuronal pentraxin II							241.0	193.0	210.0					7																	98254269		2203	4300	6503	SO:0001583	missense	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98254269G>C		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.679G>C	7.37:g.98254269G>C	ENSP00000265634:p.Val227Leu						p.V227L	NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	844	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		227			Pentaxin.		A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP	ENST00000265634.3	37	c.679G>C	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	G	2.262	-0.369117	0.05069	.	.	ENSG00000106236	ENST00000265634	T	0.06608	3.28	5.57	5.57	0.84162	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.02230	0.0069	N	0.00707	-1.245	0.80722	D	1	B	0.18863	0.031	B	0.17098	0.017	T	0.43605	-0.9381	10	0.02654	T	1	-2.0266	18.5305	0.90990	0.0:0.0:1.0:0.0	.	227	P47972	NPTX2_HUMAN	L	227	ENSP00000265634:V227L	ENSP00000265634:V227L	V	+	1	0	NPTX2	98092205	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	3.786000	0.55431	2.619000	0.88677	0.561000	0.74099	GTG		0.607	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		19	226	0	0	0	0.007413	0	19	226				
STXBP2	6813	broad.mit.edu	37	19	7709561	7709561	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr19:7709561T>C	ENST00000221283.5	+	14	1200	c.1169T>C	c.(1168-1170)gTt>gCt	p.V390A	STXBP2_ENST00000602355.1_5'Flank|STXBP2_ENST00000441779.2_Missense_Mutation_p.V401A|STXBP2_ENST00000414284.2_Missense_Mutation_p.V387A	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	390					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						AAGCTGATCGTTCCGGTGCTG	0.652																																						ENST00000441779.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1201-1203)gTt>gCt		syntaxin binding protein 2							74.0	53.0	60.0					19																	7709561		2203	4300	6503	SO:0001583	missense	6813				leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	g.chr19:7709561T>C	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.1169T>C	19.37:g.7709561T>C	ENSP00000221283:p.Val390Ala					STXBP2_ENST00000414284.2_Missense_Mutation_p.V387A|STXBP2_ENST00000221283.5_Missense_Mutation_p.V390A	p.V401A	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN			14	1239	+			390					B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	c.1202T>C	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.028199	0.75390	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.80480	-1.38;-1.38;-1.38	4.02	4.02	0.46733	.	0.000000	0.64402	D	0.000001	D	0.87341	0.6153	M	0.79475	2.455	0.80722	D	1	D;D;B;D;D	0.69078	0.997;0.995;0.447;0.994;0.995	D;D;B;P;D	0.63957	0.92;0.92;0.316;0.869;0.92	D	0.88561	0.3123	10	0.87932	D	0	-11.1855	10.9608	0.47385	0.0:0.0:0.0:1.0	.	401;401;356;387;390	E7EQD5;B4E175;B4DY46;Q15833-2;Q15833	.;.;.;.;STXB2_HUMAN	A	390;387;401;390	ENSP00000221283:V390A;ENSP00000409471:V387A;ENSP00000413606:V401A	ENSP00000221283:V390A	V	+	2	0	STXBP2	7615561	1.000000	0.71417	0.698000	0.30274	0.625000	0.37756	7.799000	0.85936	1.698000	0.51180	0.482000	0.46254	GTT		0.652	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		4	53	0	0	0	0.000248	0	4	53				
SLC6A14	11254	broad.mit.edu	37	X	115582641	115582641	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chrX:115582641C>T	ENST00000371900.4	+	8	1053	c.965C>T	c.(964-966)tCc>tTc	p.S322F		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	322					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	ATATTTTACTCCCTTTCAGTG	0.318																																						ENST00000371900.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(964-966)tCc>tTc		solute carrier family 6 (amino acid transporter), member 14	L-Proline(DB00172)						120.0	104.0	109.0					X																	115582641		2203	4300	6503	SO:0001583	missense	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115582641C>T	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.965C>T	X.37:g.115582641C>T	ENSP00000360967:p.Ser322Phe						p.S322F	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN			8	1053	+			322					Q5H942	Missense_Mutation	SNP	ENST00000371900.4	37	c.965C>T	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357718	0.82243	.	.	ENSG00000087916	ENST00000371900	T	0.80994	-1.44	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.93562	0.7945	H	0.97896	4.1	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.95806	0.8837	10	0.87932	D	0	.	15.2781	0.73756	0.0:1.0:0.0:0.0	.	322	Q9UN76	S6A14_HUMAN	F	322	ENSP00000360967:S322F	ENSP00000360967:S322F	S	+	2	0	SLC6A14	115496669	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.462000	0.80851	2.198000	0.70561	0.544000	0.68410	TCC		0.318	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			5	46	0	0	0	0.001168	0	5	46				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	38	0	0	0	0.000248	0	4	38				
DENND2D	79961	broad.mit.edu	37	1	111742266	111742266	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr1:111742266T>C	ENST00000357640.4	-	2	451	c.222A>G	c.(220-222)atA>atG	p.I74M	CHI3L2_ENST00000445067.2_5'Flank|DENND2D_ENST00000369752.5_Missense_Mutation_p.I71M|DENND2D_ENST00000473682.1_5'UTR	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	74	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		GGTAGGTGATTATAGGCTCGT	0.522																																						ENST00000357640.4																			0				breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(220-222)atA>atG		DENN/MADD domain containing 2D							119.0	124.0	122.0					1																	111742266		2203	4300	6503	SO:0001583	missense	79961							g.chr1:111742266T>C		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.222A>G	1.37:g.111742266T>C	ENSP00000350266:p.Ile74Met					DENND2D_ENST00000369752.5_Missense_Mutation_p.I71M|DENND2D_ENST00000473682.1_5'UTR	p.I74M	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	2	451	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	74			UDENN.		Q5T5V6|Q9BSU0	Missense_Mutation	SNP	ENST00000357640.4	37	c.222A>G	CCDS831.1	.	.	.	.	.	.	.	.	.	.	T	7.756	0.704320	0.15172	.	.	ENSG00000162777	ENST00000357640;ENST00000369752	T;T	0.41400	1.0;1.0	5.73	-11.5	0.00074	uDENN (3);	0.438835	0.26045	N	0.026674	T	0.06371	0.0164	N	0.14661	0.345	0.09310	N	1	B;P	0.34522	0.4;0.455	B;B	0.40444	0.318;0.329	T	0.41716	-0.9493	10	0.35671	T	0.21	-1.2372	5.9315	0.19142	0.0596:0.2313:0.288:0.421	.	71;74	Q9H6A0-2;Q9H6A0	.;DEN2D_HUMAN	M	74;71	ENSP00000350266:I74M;ENSP00000358767:I71M	ENSP00000350266:I74M	I	-	3	3	DENND2D	111543789	0.000000	0.05858	0.020000	0.16555	0.379000	0.30106	-2.125000	0.01317	-4.139000	0.00070	-0.912000	0.02778	ATA		0.522	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901		11	156	0	0	0	0.008291	0	11	156				
FREM2	341640	broad.mit.edu	37	13	39358893	39358893	+	Silent	SNP	C	C	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr13:39358893C>T	ENST00000280481.7	+	6	6183	c.5967C>T	c.(5965-5967)atC>atT	p.I1989I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1989					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGGGAAGAATCGGATCAGAGT	0.448																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(5965-5967)atC>atT		FRAS1 related extracellular matrix protein 2							102.0	98.0	99.0					13																	39358893		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39358893C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.5967C>T	13.37:g.39358893C>T							p.I1989I	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	6	6183	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1989					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.5967C>T	CCDS31960.1																																																																																				0.448	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		4	39	0	0	0	0.000248	0	4	39				
OR2L8	391190	broad.mit.edu	37	1	248112599	248112599	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr1:248112599C>T	ENST00000357191.3	+	1	440	c.440C>T	c.(439-441)tCt>tTt	p.S147F	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATAACAGGGTCTTGGATCATA	0.438																																						ENST00000357191.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42						c.(439-441)tCt>tTt		olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)							284.0	225.0	245.0					1																	248112599		2203	4300	6503	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112599C>T	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.440C>T	1.37:g.248112599C>T	ENSP00000349719:p.Ser147Phe					OR2L13_ENST00000366478.2_Intron	p.S147F	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	440	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		147					Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.440C>T	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	11.90	1.777601	0.31502	.	.	ENSG00000196936	ENST00000357191	T	0.39056	1.1	1.64	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31673	U	0.007242	T	0.67487	0.2898	M	0.94021	3.485	0.09310	N	1	D	0.76494	0.999	D	0.74023	0.982	T	0.58405	-0.7642	10	0.87932	D	0	.	8.6971	0.34303	0.0:0.763:0.2369:0.0	.	147	Q8NGY9	OR2L8_HUMAN	F	147	ENSP00000349719:S147F	ENSP00000349719:S147F	S	+	2	0	OR2L8	246179222	0.000000	0.05858	0.043000	0.18650	0.230000	0.25150	0.878000	0.28126	0.905000	0.36596	0.479000	0.44913	TCT		0.438	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			8	167	0	0	0	0.008291	0	8	167				
PDE1C	5137	broad.mit.edu	37	7	31862847	31862847	+	Silent	SNP	G	G	A			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr7:31862847G>A	ENST00000396191.1	-	14	1877	c.1422C>T	c.(1420-1422)agC>agT	p.S474S	PDE1C_ENST00000396182.2_Silent_p.S474S|PDE1C_ENST00000396184.3_Silent_p.S474S|PDE1C_ENST00000479980.1_5'Flank|PDE1C_ENST00000321453.7_Silent_p.S474S|PDE1C_ENST00000396193.1_Silent_p.S534S	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	474	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CATCTGACGAGCTGATGCTAT	0.438																																						ENST00000396184.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(1420-1422)agC>agT		phosphodiesterase 1C, calmodulin-dependent 70kDa							65.0	62.0	63.0					7																	31862847		2203	4300	6503	SO:0001819	synonymous_variant	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31862847G>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1422C>T	7.37:g.31862847G>A						PDE1C_ENST00000396191.1_Silent_p.S474S|PDE1C_ENST00000321453.7_Silent_p.S474S|PDE1C_ENST00000396193.1_Silent_p.S534S|PDE1C_ENST00000396182.2_Silent_p.S474S	p.S474S	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		15	1626	-			474			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	ENST00000396191.1	37	c.1422C>T	CCDS55099.1																																																																																				0.438	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			4	54	0	0	0	0.000248	0	4	54				
GBP4	115361	broad.mit.edu	37	1	89655859	89655859	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr1:89655859C>G	ENST00000355754.6	-	7	1156	c.1059G>C	c.(1057-1059)atG>atC	p.M353I		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	353						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GTTGCTGGGCCATCTGCTGGC	0.602																																						ENST00000355754.6																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33						c.(1057-1059)atG>atC		guanylate binding protein 4							78.0	72.0	74.0					1																	89655859		2203	4300	6503	SO:0001583	missense	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89655859C>G	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1059G>C	1.37:g.89655859C>G	ENSP00000359490:p.Met353Ile						p.M353I	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	7	1156	-			353					B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	c.1059G>C	CCDS721.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139487	0.37728	.	.	ENSG00000162654	ENST00000355754	T	0.61980	0.06	5.07	4.17	0.49024	Guanylate-binding protein, C-terminal (3);	0.042322	0.85682	D	0.000000	T	0.63674	0.2531	M	0.88570	2.965	0.31645	N	0.647523	P	0.39116	0.66	P	0.46419	0.516	T	0.68006	-0.5523	10	0.56958	D	0.05	.	11.8697	0.52513	0.0:0.9153:0.0:0.0847	.	353	Q96PP9	GBP4_HUMAN	I	353	ENSP00000359490:M353I	ENSP00000359490:M353I	M	-	3	0	GBP4	89428447	0.911000	0.30947	0.998000	0.56505	0.104000	0.19210	2.854000	0.48325	1.521000	0.48983	-0.119000	0.15052	ATG		0.602	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		4	57	0	0	0	0.000248	0	4	57				
TTN	7273	broad.mit.edu	37	2	179399269	179399269	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr2:179399269C>G	ENST00000591111.1	-	308	97374	c.97150G>C	c.(97150-97152)Gag>Cag	p.E32384Q	TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31457Q|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25152Q|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25085Q|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E24960Q|TTN_ENST00000589042.1_Missense_Mutation_p.E34025Q|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000431259.2_RNA			Q8WZ42	TITIN_HUMAN	titin	32384	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGATATTCTCAATGATCTGT	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(102073-102075)Gag>Cag		titin							125.0	122.0	123.0					2																	179399269		1956	4158	6114	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179399269C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.97150G>C	2.37:g.179399269C>G	ENSP00000465570:p.Glu32384Gln					TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25085Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E32384Q|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31457Q|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25152Q|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E24960Q|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000450692.2_RNA	p.E34025Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	102297	-			32384			Ig-like 150.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.102073G>C		.	.	.	.	.	.	.	.	.	.	C	15.54	2.865021	0.51482	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.63581	0.2523	N	0.04387	-0.21	0.58432	D	0.999992	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.73294	-0.4028	9	0.87932	D	0	.	19.3087	0.94175	0.0:1.0:0.0:0.0	.	24960;25085;25152;32384	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	31457;24960;25152;25085;24957	ENSP00000343764:E31457Q;ENSP00000434586:E24960Q;ENSP00000340554:E25152Q;ENSP00000352154:E25085Q	ENSP00000340554:E25152Q	E	-	1	0	TTN	179107515	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.794000	0.85869	2.857000	0.98124	0.650000	0.86243	GAG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	103	0	0	0	0.004672	0	3	103				
IGHV3-16	28447	broad.mit.edu	37	14	106622313	106622313	+	RNA	SNP	A	A	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr14:106622313A>T	ENST00000390604.2	-	0	106									immunoglobulin heavy variable 3-16 (non-functional)																		TTAAAATACCAGCAAGAAAAA	0.448																																						ENST00000390604.2																			0																				99.0	88.0	91.0					14																	106622313		1836	4087	5923			28447							g.chr14:106622313A>T	M99655		14q32.33	2012-02-08	2008-08-22		ENSG00000211944	ENSG00000211944		"""Immunoglobulins / IGH locus"""	5583	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-16"""				Standard	NG_001019		Approved				OTTHUMG00000152273		14.37:g.106622313A>T														0	106	-									RNA	SNP	ENST00000390604.2	37																																																																																						0.448	IGHV3-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325661.1	NG_001019		7	109	0	0	0	0.003080	0	7	109				
RAB33B	83452	broad.mit.edu	37	4	140394046	140394046	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr4:140394046G>C	ENST00000305626.5	+	2	845	c.456G>C	c.(454-456)ttG>ttC	p.L152F		NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	152					autophagy (GO:0006914)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of retrograde vesicle-mediated transport, Golgi to ER (GO:2000156)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					AATGTGACTTGAGAAGTGCCA	0.398																																						ENST00000305626.5																			0				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						c.(454-456)ttG>ttC		RAB33B, member RAS oncogene family							141.0	141.0	141.0					4																	140394046		2203	4300	6503	SO:0001583	missense	83452				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr4:140394046G>C	AF350420	CCDS3747.1	4q28	2008-02-05			ENSG00000172007	ENSG00000172007		"""RAB, member RAS oncogene"""	16075	protein-coding gene	gene with protein product		605950					Standard	NM_031296		Approved	DKFZP434G099	uc003ihv.3	Q9H082	OTTHUMG00000133384	ENST00000305626.5:c.456G>C	4.37:g.140394046G>C	ENSP00000306496:p.Leu152Phe						p.L152F	NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN			2	845	+	all_hematologic(180;0.162)		152					B2R987|Q4W5B0	Missense_Mutation	SNP	ENST00000305626.5	37	c.456G>C	CCDS3747.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.505552	0.64410	.	.	ENSG00000172007	ENST00000305626	D	0.84944	-1.92	5.82	3.99	0.46301	Small GTP-binding protein domain (1);	0.062079	0.64402	D	0.000004	D	0.93559	0.7944	H	0.94264	3.515	0.54753	D	0.999984	D	0.71674	0.998	D	0.69142	0.962	D	0.93790	0.7091	10	0.87932	D	0	.	11.6425	0.51242	0.1527:0.0:0.8473:0.0	.	152	Q9H082	RB33B_HUMAN	F	152	ENSP00000306496:L152F	ENSP00000306496:L152F	L	+	3	2	RAB33B	140613496	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.864000	0.39469	0.707000	0.31934	0.561000	0.74099	TTG		0.398	RAB33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257235.2	NM_031296		4	126	0	0	0	0.000248	0	4	126				
FGF7	2252	broad.mit.edu	37	15	49776562	49776562	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr15:49776562A>G	ENST00000267843.4	+	4	1057	c.446A>G	c.(445-447)aAc>aGc	p.N149S	FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560704.1_3'UTR	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	149					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		AACCATTACAACACATATGCA	0.328																																						ENST00000267843.4																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(445-447)aAc>aGc		fibroblast growth factor 7	Palifermin(DB00039)						49.0	49.0	49.0					15																	49776562		2034	3874	5908	SO:0001583	missense	2252				actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	g.chr15:49776562A>G	M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"""Endogenous ligands"""	3685	protein-coding gene	gene with protein product	"""keratinocyte growth factor"""	148180	"""fibroblast growth factor 7 (keratinocyte growth factor)"""			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.446A>G	15.37:g.49776562A>G	ENSP00000267843:p.Asn149Ser					FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron	p.N149S	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	4	1057	+		all_lung(180;0.00391)	149					H0YNY5|Q6FGV5|Q96FG5	Missense_Mutation	SNP	ENST00000267843.4	37	c.446A>G	CCDS10131.1	.	.	.	.	.	.	.	.	.	.	A	13.64	2.297159	0.40694	.	.	ENSG00000140285	ENST00000267843	D	0.83250	-1.7	5.92	4.77	0.60923	.	0.093037	0.64402	D	0.000001	T	0.81626	0.4862	.	.	.	0.80722	D	1	P	0.41366	0.747	B	0.41860	0.368	T	0.81795	-0.0769	9	0.66056	D	0.02	.	12.8405	0.57800	0.8635:0.1365:0.0:0.0	.	149	P21781	FGF7_HUMAN	S	149	ENSP00000267843:N149S	ENSP00000267843:N149S	N	+	2	0	FGF7	47563854	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.299000	0.78831	1.026000	0.39733	0.528000	0.53228	AAC		0.328	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	NM_002009		3	47	0	0	0	0.004672	0	3	47				
CPOX	1371	broad.mit.edu	37	3	98304334	98304334	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr3:98304334C>T	ENST00000264193.2	-	5	1341	c.1123G>A	c.(1123-1125)Gac>Aac	p.D375N		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	375					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to arsenic-containing substance (GO:0046685)|response to insecticide (GO:0017085)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to methylmercury (GO:0051597)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	coproporphyrinogen oxidase activity (GO:0004109)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GTGAATGAGTCATCACAGTGC	0.517																																					Esophageal Squamous(75;7 1223 22300 43648 48951)	ENST00000264193.2																			0				endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(1123-1125)Gac>Aac		coproporphyrinogen oxidase							168.0	177.0	174.0					3																	98304334		2203	4300	6503	SO:0001583	missense	1371					mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity	g.chr3:98304334C>T	BC017210	CCDS2932.1	3q12	2012-10-02		2004-01-30		ENSG00000080819	1.3.3.3		2321	protein-coding gene	gene with protein product	"""coproporphyria"""	612732	"""coproporphyrinogen oxidase (coproporphyria, harderoporphyria)"""	CPO		7757079, 8407975	Standard	NM_000097		Approved	CPX, HCP	uc003dsx.3	P36551		ENST00000264193.2:c.1123G>A	3.37:g.98304334C>T	ENSP00000264193:p.Asp375Asn						p.D375N	NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN			5	1341	-			375					A8K275|B4DSD5|Q14060|Q53F08|Q8IZ45|Q96AF3	Missense_Mutation	SNP	ENST00000264193.2	37	c.1123G>A	CCDS2932.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317096	0.81469	.	.	ENSG00000080819	ENST00000264193	D	0.93019	-3.15	5.9	5.9	0.94986	.	0.041938	0.85682	D	0.000000	D	0.95233	0.8454	M	0.90814	3.15	0.80722	D	1	P	0.38455	0.632	B	0.43413	0.419	D	0.93778	0.7081	10	0.21540	T	0.41	-20.4368	17.776	0.88508	0.0:1.0:0.0:0.0	.	375	P36551	HEM6_HUMAN	N	375	ENSP00000264193:D375N	ENSP00000264193:D375N	D	-	1	0	CPOX	99787024	1.000000	0.71417	0.679000	0.29978	0.990000	0.78478	7.487000	0.81328	2.806000	0.96561	0.655000	0.94253	GAC		0.517	CPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358900.1	NM_000097		7	234	0	0	0	0.001984	0	7	234				
FCN1	2219	broad.mit.edu	37	9	137801651	137801651	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr9:137801651G>T	ENST00000371806.3	-	9	1065	c.974C>A	c.(973-975)cCc>cAc	p.P325H		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	325	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.|P domain.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CGTCTAGGCGGGCCGCACCTT	0.592																																						ENST00000371806.3																			0				endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(973-975)cCc>cAc		ficolin (collagen/fibrinogen domain containing) 1							64.0	65.0	64.0					9																	137801651		2203	4300	6503	SO:0001583	missense	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137801651G>T	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.974C>A	9.37:g.137801651G>T	ENSP00000360871:p.Pro325His						p.P325H	NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	9	1065	-		Myeloproliferative disorder(178;0.0333)	325			Fibrinogen C-terminal.		Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	c.974C>A	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926685	0.34002	.	.	ENSG00000085265	ENST00000371806	T	0.31247	1.5	3.13	-5.69	0.02428	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);	.	.	.	.	T	0.57888	0.2084	H	0.95294	3.65	0.35515	D	0.800946	D	0.89917	1.0	D	0.81914	0.995	T	0.65311	-0.6199	9	0.87932	D	0	.	7.2697	0.26250	0.1496:0.0:0.7144:0.136	.	325	O00602	FCN1_HUMAN	H	325	ENSP00000360871:P325H	ENSP00000360871:P325H	P	-	2	0	FCN1	136941472	0.806000	0.28996	0.020000	0.16555	0.390000	0.30446	1.058000	0.30504	-1.528000	0.01756	-0.492000	0.04666	CCC		0.592	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		8	73	1	0	0.00307968	0.003080	0.00383169	8	73				
THSD7B	80731	broad.mit.edu	37	2	137928343	137928343	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr2:137928343G>A	ENST00000409968.1	+	7	1736	c.1558G>A	c.(1558-1560)Gaa>Aaa	p.E520K	THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000272643.3_Missense_Mutation_p.E520K|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.E489K			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	520	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGTCCTCATGGAATCTACAGG	0.473																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(1558-1560)Gaa>Aaa		thrombospondin, type I, domain containing 7B							116.0	110.0	112.0					2																	137928343		1970	4165	6135	SO:0001583	missense	80731							g.chr2:137928343G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1558G>A	2.37:g.137928343G>A	ENSP00000387145:p.Glu520Lys					THSD7B_ENST00000413152.2_Missense_Mutation_p.E489K|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000272643.3_Missense_Mutation_p.E520K	p.E520K						BRCA - Breast invasive adenocarcinoma(221;0.19)	7	1736	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.1558G>A		.	.	.	.	.	.	.	.	.	.	G	24.7	4.562776	0.86335	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60548	0.18;0.18;0.18	5.76	5.76	0.90799	.	0.092578	0.64402	D	0.000001	T	0.69178	0.3082	L	0.58925	1.835	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.70227	0.968;0.968	T	0.62144	-0.6916	10	0.08179	T	0.78	.	16.8927	0.86092	0.0:0.0:1.0:0.0	.	520;489	Q9C0I4;C9JKN6	THS7B_HUMAN;.	K	520;520;489	ENSP00000387145:E520K;ENSP00000272643:E520K;ENSP00000413841:E489K	ENSP00000272643:E520K	E	+	1	0	THSD7B	137644813	1.000000	0.71417	0.998000	0.56505	0.932000	0.56968	6.704000	0.74639	2.713000	0.92767	0.655000	0.94253	GAA		0.473	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		4	60	0	0	0	0.000602	0	4	60				
TRIM58	25893	broad.mit.edu	37	1	248023998	248023998	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr1:248023998A>G	ENST00000366481.3	+	2	548	c.500A>G	c.(499-501)aAg>aGg	p.K167R		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	167						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTGGGGAAAAAGACTGTCATT	0.478																																						ENST00000366481.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.(499-501)aAg>aGg		tripartite motif containing 58							105.0	106.0	106.0					1																	248023998		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248023998A>G	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.500A>G	1.37:g.248023998A>G	ENSP00000355437:p.Lys167Arg						p.K167R	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		2	548	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	167					Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.500A>G	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	G	7.004	0.555396	0.13436	.	.	ENSG00000162722	ENST00000366481	T	0.05649	3.41	4.02	2.89	0.33648	.	0.233460	0.29853	N	0.011038	T	0.08358	0.0208	L	0.53561	1.675	0.09310	N	1	P	0.36392	0.551	B	0.40602	0.334	T	0.18681	-1.0329	10	0.36615	T	0.2	.	7.9403	0.29955	0.89:0.0:0.11:0.0	.	167	Q8NG06	TRI58_HUMAN	R	167	ENSP00000355437:K167R	ENSP00000355437:K167R	K	+	2	0	TRIM58	246090621	0.998000	0.40836	0.109000	0.21407	0.002000	0.02628	2.076000	0.41548	0.222000	0.20900	-1.042000	0.02369	AAG		0.478	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		5	72	0	0	0	0.001168	0	5	72				
GRIN3A	116443	broad.mit.edu	37	9	104448991	104448991	+	Silent	SNP	T	T	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr9:104448991T>G	ENST00000361820.3	-	2	1791	c.1191A>C	c.(1189-1191)gcA>gcC	p.A397A		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	397					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CTACAGCTCTTGCGACCAGCT	0.498																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(1189-1191)gcA>gcC		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						123.0	94.0	104.0					9																	104448991		2203	4300	6503	SO:0001819	synonymous_variant	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104448991T>G		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1191A>C	9.37:g.104448991T>G							p.A397A	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			2	1791	-		Acute lymphoblastic leukemia(62;0.0568)	397					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.1191A>C	CCDS6758.1																																																																																				0.498	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			14	69	0	0	0	0.001855	0	14	69				
PARD3	56288	broad.mit.edu	37	10	34673066	34673066	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr10:34673066C>T	ENST00000374789.3	-	8	1332	c.1007G>A	c.(1006-1008)aGa>aAa	p.R336K	PARD3_ENST00000374790.3_Missense_Mutation_p.R292K|PARD3_ENST00000374773.1_Missense_Mutation_p.R336K|PARD3_ENST00000346874.4_Missense_Mutation_p.R336K|PARD3_ENST00000350537.4_Missense_Mutation_p.R336K|PARD3_ENST00000544292.1_Missense_Mutation_p.R66K|PARD3_ENST00000545260.1_Missense_Mutation_p.R292K|PARD3_ENST00000340077.5_Missense_Mutation_p.R336K|PARD3_ENST00000545693.1_Missense_Mutation_p.R336K|PARD3_ENST00000374788.3_Missense_Mutation_p.R336K|PARD3_ENST00000374776.1_Missense_Mutation_p.R336K|PARD3_ENST00000374794.3_Missense_Mutation_p.R292K	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	336	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CTGTTCAAATCTTCTATTTCG	0.398																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(1006-1008)aGa>aAa		par-3 family cell polarity regulator							138.0	122.0	127.0					10																	34673066		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34673066C>T	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1007G>A	10.37:g.34673066C>T	ENSP00000363921:p.Arg336Lys					PARD3_ENST00000340077.5_Missense_Mutation_p.R336K|PARD3_ENST00000374773.1_Missense_Mutation_p.R336K|PARD3_ENST00000545693.1_Missense_Mutation_p.R336K|PARD3_ENST00000374776.1_Missense_Mutation_p.R336K|PARD3_ENST00000374788.3_Missense_Mutation_p.R336K|PARD3_ENST00000545260.1_Missense_Mutation_p.R292K|PARD3_ENST00000544292.1_Missense_Mutation_p.R66K|PARD3_ENST00000374790.3_Missense_Mutation_p.R292K|PARD3_ENST00000374794.3_Missense_Mutation_p.R292K|PARD3_ENST00000350537.4_Missense_Mutation_p.R336K|PARD3_ENST00000346874.4_Missense_Mutation_p.R336K	p.R336K	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			8	1332	-		Breast(68;0.0707)	336			PDZ 1.		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.1007G>A	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936467	0.92458	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	D;D;D;D;D;D;D;D;D;D;D;T	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;1.59	5.98	5.07	0.68467	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	D	0.88804	0.6536	L	0.54323	1.7	0.54753	D	0.999988	D;D;D;D;D;D;D;P;D;D;D;P;D;D	0.76494	0.998;0.968;0.988;0.998;0.988;0.999;0.998;0.951;0.978;0.996;0.999;0.942;0.989;0.984	D;D;D;D;D;D;D;P;P;D;D;P;D;P	0.85130	0.995;0.954;0.992;0.995;0.992;0.997;0.995;0.684;0.766;0.989;0.983;0.835;0.92;0.839	D	0.88748	0.3248	10	0.59425	D	0.04	.	15.6243	0.76840	0.0:0.9334:0.0:0.0666	.	292;292;336;336;336;336;336;336;292;336;336;336;336;66	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.	K	336;292;336;336;336;292;336;292;336;336;336;66	ENSP00000443147:R336K;ENSP00000440857:R292K;ENSP00000363921:R336K;ENSP00000363920:R336K;ENSP00000340591:R336K;ENSP00000363926:R292K;ENSP00000311986:R336K;ENSP00000363922:R292K;ENSP00000363908:R336K;ENSP00000341844:R336K;ENSP00000363905:R336K;ENSP00000444429:R66K	ENSP00000341844:R336K	R	-	2	0	PARD3	34713072	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.652000	0.54439	2.835000	0.97688	0.650000	0.86243	AGA		0.398	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		4	60	0	0	0	0.001168	0	4	60				
SOGA3	387104	broad.mit.edu	37	6	127796926	127796926	+	Frame_Shift_Del	DEL	G	G	-	rs373735607		TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr6:127796926delG	ENST00000525778.1	-	6	2990	c.2245delC	c.(2245-2247)cgcfs	p.R749fs	SOGA3_ENST00000556132.1_Frame_Shift_Del_p.R749fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.R749fs|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.R749fs|SOGA3_ENST00000368268.2_Frame_Shift_Del_p.R749fs			Q5TF21	SOGA3_HUMAN	SOGA family member 3	749					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TCGCTGTCGCGGGGGCTGCCG	0.692																																						ENST00000556132.1																			0											c.(2245-2247)gcfs		SOGA family member 3							46.0	53.0	51.0					6																	127796926		2142	4262	6404	SO:0001589	frameshift_variant	387104					integral to membrane		g.chr6:127796926delG	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2245delC	6.37:g.127796926delG	ENSP00000434570:p.Arg749fs					SOGA3_ENST00000481848.2_Frame_Shift_Del_p.R749fs|SOGA3_ENST00000368268.2_Frame_Shift_Del_p.R749fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.R749fs|SOGA3_ENST00000525778.1_Frame_Shift_Del_p.R749fs	p.R749fs	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	3109	-			749						Frame_Shift_Del	DEL	ENST00000525778.1	37	c.2245delC	CCDS43505.1																																																																																				0.692	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		9	165						9	165	---	---	---	---
SP8	221833	broad.mit.edu	37	7	20824941	20824943	+	In_Frame_Del	DEL	GCC	GCC	-	rs372591893	byFrequency	TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr7:20824941_20824943delGCC	ENST00000361443.4	-	3	676_678	c.439_441delGGC	c.(439-441)ggcdel	p.G147del	SP8_ENST00000418710.2_In_Frame_Del_p.G165del	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	147					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|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.G165delG(1)|p.G147delG(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGCGGAGGAgccgccgccgccg	0.729														461	0.0920527	0.0098	0.1124	5008	,	,		5525	0.002		0.2664	False		,,,				2504	0.1022					ENST00000361443.4																			2	Deletion - In frame(2)	p.G165delG(1)|p.G147delG(1)	central_nervous_system(2)	NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(439-441)del		Sp8 transcription factor			,	50,654		19,12,321					,	0.5	0.3			2	602,1424		217,168,628	no	coding,coding	SP8	NM_198956.2,NM_182700.4	,	236,180,949	A1A1,A1R,RR		29.7137,7.1023,23.8828	,	,		652,2078				SO:0001651	inframe_deletion	221833				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:20824941_20824943delGCC		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.439_441delGGC	7.37:g.20824950_20824952delGCC	ENSP00000354482:p.Gly147del					SP8_ENST00000418710.2_In_Frame_Del_p.G165del	p.G147del	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN			3	676_678	-			147					Q7Z615|Q7Z616|Q96MJ1	In_Frame_Del	DEL	ENST00000361443.4	37	c.439_441delGGC	CCDS5372.1																																																																																				0.729	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			7	10						7	10	---	---	---	---
DRGX	644168	broad.mit.edu	37	10	50574313	50574313	+	Frame_Shift_Del	DEL	G	G	-	rs370735058		TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr10:50574313delG	ENST00000374139.2	-	6	650	c.640delC	c.(640-642)cgcfs	p.R214fs	DRGX_ENST00000434016.1_Frame_Shift_Del_p.R219fs			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	214					axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GAGTGCTCGCGGGCCTTCATG	0.672																																						ENST00000374139.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						c.(640-642)gcfs		dorsal root ganglia homeobox							55.0	65.0	62.0					10																	50574313		2142	4230	6372	SO:0001589	frameshift_variant	644168				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:50574313delG		CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"""Homeoboxes / PRD class"""	21536	protein-coding gene	gene with protein product	"""paired-like homeodomain trancription factor DRG11"""	606701	"""paired related homeobox-like 1"""	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.640delC	10.37:g.50574313delG	ENSP00000363254:p.Arg214fs					DRGX_ENST00000434016.1_Frame_Shift_Del_p.R219fs	p.R214fs			C9JW76	C9JW76_HUMAN			6	650	-			219						Frame_Shift_Del	DEL	ENST00000374139.2	37	c.640delC																																																																																					0.672	DRGX-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047987.2	XM_060970		11	111						11	111	---	---	---	---
LMTK3	114783	broad.mit.edu	37	19	49014769	49014769	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr19:49014769delG	ENST00000600059.1	-	1	292	c.65delC	c.(64-66)ccgfs	p.P22fs	CTC-273B12.10_ENST00000598924.1_lincRNA|LMTK3_ENST00000270238.3_Frame_Shift_Del_p.P51fs			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	22					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGGGTGGGCCGGGGACGCCAG	0.741																																						ENST00000600059.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(64-66)cgfs		lemur tyrosine kinase 3							5.0	7.0	7.0					19																	49014769		1787	3878	5665	SO:0001589	frameshift_variant	114783							g.chr19:49014769delG	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.65delC	19.37:g.49014769delG	ENSP00000472020:p.Pro22fs					LMTK3_ENST00000270238.3_Frame_Shift_Del_p.P51fs	p.P22fs						OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	1	292	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Frame_Shift_Del	DEL	ENST00000600059.1	37	c.65delC																																																																																					0.741	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		2	4						2	4	---	---	---	---
