#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
BBS12	166379	broad.mit.edu	37	4	123663151	123663151	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr4:123663151C>T	ENST00000314218.3	+	2	297	c.104C>T	c.(103-105)tCa>tTa	p.S35L	BBS12_ENST00000542236.1_Missense_Mutation_p.S35L	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	35					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						CCACTAAAATCATCCAAATTT	0.383									Bardet-Biedl syndrome																													ENST00000542236.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						c.(103-105)tCa>tTa		Bardet-Biedl syndrome 12							82.0	82.0	82.0					4																	123663151		2203	4300	6503	SO:0001583	missense	166379	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123663151C>T	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.104C>T	4.37:g.123663151C>T	ENSP00000319062:p.Ser35Leu					BBS12_ENST00000314218.3_Missense_Mutation_p.S35L	p.S35L	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN			3	485	+			35					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	37	c.104C>T	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864891	0.51482	.	.	ENSG00000181004	ENST00000314218;ENST00000542236;ENST00000433287	T;T;T	0.77877	-1.13;-1.13;-1.13	5.2	4.36	0.52297	.	0.842857	0.10551	N	0.661472	T	0.75027	0.3794	M	0.61703	1.905	0.22541	N	0.999004	B	0.18968	0.032	B	0.21917	0.037	T	0.60026	-0.7343	10	0.13470	T	0.59	-13.085	13.9164	0.63899	0.0:0.9268:0.0:0.0732	.	35	Q6ZW61	BBS12_HUMAN	L	35	ENSP00000319062:S35L;ENSP00000438273:S35L;ENSP00000398912:S35L	ENSP00000319062:S35L	S	+	2	0	BBS12	123882601	0.837000	0.29446	0.993000	0.49108	0.993000	0.82548	1.169000	0.31871	1.333000	0.45449	0.650000	0.86243	TCA		0.383	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		14	58	0	0	0	1	0	14	58				
KIAA1549	57670	broad.mit.edu	37	7	138546052	138546052	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr7:138546052C>T	ENST00000422774.1	-	16	5128	c.5080G>A	c.(5080-5082)Gcc>Acc	p.A1694T	KIAA1549_ENST00000242365.4_Missense_Mutation_p.A1644T|KIAA1549_ENST00000440172.1_Missense_Mutation_p.A1694T			Q9HCM3	K1549_HUMAN	KIAA1549	1694						integral component of membrane (GO:0016021)		p.A1644S(1)|p.A1694S(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGGGCAAAGGCGTCGTCCAGG	0.697			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	2	Substitution - Missense(2)	p.A1644S(1)|p.A1694S(1)	lung(2)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(5080-5082)Gcc>Acc		KIAA1549							41.0	51.0	48.0					7																	138546052		2110	4205	6315	SO:0001583	missense	57670					integral to membrane		g.chr7:138546052C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.5080G>A	7.37:g.138546052C>T	ENSP00000416040:p.Ala1694Thr					KIAA1549_ENST00000422774.1_Missense_Mutation_p.A1694T|KIAA1549_ENST00000242365.4_Missense_Mutation_p.A1644T	p.A1694T	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			16	5128	-			1694					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.5080G>A	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620881	0.87460	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.65178	-0.12;-0.11;-0.14	4.6	3.71	0.42584	.	0.000000	0.85682	D	0.000000	T	0.77980	0.4212	M	0.77820	2.39	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.958;0.99;0.958	T	0.81376	-0.0961	10	0.87932	D	0	.	13.5219	0.61572	0.1572:0.8428:0.0:0.0	.	1694;478;1694;478	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	T	1694;1644;1694	ENSP00000406661:A1694T;ENSP00000242365:A1644T;ENSP00000416040:A1694T	ENSP00000242365:A1644T	A	-	1	0	KIAA1549	138196592	1.000000	0.71417	0.893000	0.35052	0.753000	0.42808	7.231000	0.78106	1.273000	0.44346	0.563000	0.77884	GCC		0.697	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			21	61	0	0	0	1	0	21	61				
KIAA0100	9703	broad.mit.edu	37	17	26960084	26960084	+	Silent	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr17:26960084G>A	ENST00000528896.2	-	20	3755	c.3681C>T	c.(3679-3681)gtC>gtT	p.V1227V	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.V1084V|KIAA0100_ENST00000544884.1_Silent_p.V1084V|RP11-192H23.7_ENST00000583787.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1227						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CCCGCAGAGTGACACTATGGT	0.587																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(3679-3681)gtC>gtT		KIAA0100							75.0	76.0	75.0					17																	26960084		2203	4300	6503	SO:0001819	synonymous_variant	9703					extracellular region		g.chr17:26960084G>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.3681C>T	17.37:g.26960084G>A						KIAA0100_ENST00000389003.3_Silent_p.V1084V|KIAA0100_ENST00000544884.1_Silent_p.V1084V	p.V1227V	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			20	3755	-	Lung NSC(42;0.00431)		1227					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	c.3681C>T	CCDS32595.1																																																																																				0.587	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		16	58	0	0	0	1	0	16	58				
SLAMF9	89886	broad.mit.edu	37	1	159922091	159922091	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:159922091C>T	ENST00000368093.3	-	3	741	c.625G>A	c.(625-627)Gtc>Atc	p.V209I	SLAMF9_ENST00000466773.1_5'UTR|SLAMF9_ENST00000368092.3_Intron	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	209	Ig-like C2-type.					integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAGAACTGACGTTGCTGATG	0.567																																						ENST00000368093.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(625-627)Gtc>Atc		SLAM family member 9							126.0	119.0	122.0					1																	159922091		2203	4300	6503	SO:0001583	missense	89886					integral to membrane		g.chr1:159922091C>T	AY034613	CCDS1191.1, CCDS53392.1	1q23.1	2013-01-11			ENSG00000162723	ENSG00000162723		"""Immunoglobulin superfamily / V-set domain containing"""	18430	protein-coding gene	gene with protein product		608589				11685473	Standard	NM_033438		Approved	CD2F-10, CD84-H1, SF2001	uc001fus.3	Q96A28	OTTHUMG00000024074	ENST00000368093.3:c.625G>A	1.37:g.159922091C>T	ENSP00000357072:p.Val209Ile					SLAMF9_ENST00000466773.1_5'UTR|SLAMF9_ENST00000368092.3_Intron	p.V209I	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	741	-	all_hematologic(112;0.093)		209			Ig-like C2-type.		Q5JRQ9|Q5JRR0|Q6UWG1	Missense_Mutation	SNP	ENST00000368093.3	37	c.625G>A	CCDS1191.1	.	.	.	.	.	.	.	.	.	.	C	1.289	-0.608156	0.03717	.	.	ENSG00000162723	ENST00000368093	T	0.21734	1.99	3.61	-7.23	0.01480	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.774840	0.02505	N	0.090880	T	0.01765	0.0056	N	0.01410	-0.885	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.20405	-1.0276	9	.	.	.	-14.9675	13.9379	0.64036	0.0:0.1846:0.0:0.8154	.	209	Q96A28	SLAF9_HUMAN	I	209	ENSP00000357072:V209I	.	V	-	1	0	SLAMF9	158188715	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.759000	0.00787	-1.901000	0.01096	-1.223000	0.01593	GTC		0.567	SLAMF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060630.1	NM_033438		13	99	0	0	0	1	0	13	99				
ARHGAP31	57514	broad.mit.edu	37	3	119112315	119112315	+	Splice_Site	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr3:119112315C>T	ENST00000264245.4	+	8	1415	c.883C>T	c.(883-885)Cga>Tga	p.R295*		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	295					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TTCTTTTAGGCGAAAGCTCTC	0.373																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.e8-1		Rho GTPase activating protein 31							121.0	114.0	116.0					3																	119112315		1838	4084	5922	SO:0001630	splice_region_variant	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119112315C>T		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.882-1C>T	3.37:g.119112315C>T							p.R295_splice	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			8	1415	+			295					Q9ULL6	Splice_Site	SNP	ENST00000264245.4	37	c.881_splice	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	C	42	9.391028	0.99156	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	.	.	.	5.96	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5861	0.56419	0.8549:0.1451:0.0:0.0	.	.	.	.	X	295	.	ENSP00000264245:R295X	R	+	1	2	ARHGAP31	120595005	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.875000	0.75551	1.091000	0.41335	-0.262000	0.10625	CGA		0.373	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2		Nonsense_Mutation	21	115	0	0	0	1	0	21	115				
ADAM21P1	145241	broad.mit.edu	37	14	70713090	70713090	+	RNA	SNP	G	G	T	rs572545694	byFrequency	TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr14:70713090G>T	ENST00000530196.1	-	0	1428					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		CAGGCATCTTGTTCACACTGC	0.493													G|||	2	0.000399361	0.0	0.0	5008	,	,		23725	0.002		0.0	False		,,,				2504	0.0					ENST00000530196.1																			0																																																			145241							g.chr14:70713090G>T			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713090G>T								NR_003951.1						0	1428	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.493	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		12	66	1	0	3.07112e-06	1	3.22804e-06	12	66				
APOB	338	broad.mit.edu	37	2	21245909	21245909	+	Silent	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr2:21245909C>T	ENST00000233242.1	-	18	2737	c.2610G>A	c.(2608-2610)caG>caA	p.Q870Q		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	870					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGTTCAGCCTGCATCTATA	0.468																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(2608-2610)caG>caA		apolipoprotein B	Atorvastatin(DB01076)						87.0	91.0	89.0					2																	21245909		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21245909C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2610G>A	2.37:g.21245909C>T							p.Q870Q	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			18	2737	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		870					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.2610G>A	CCDS1703.1																																																																																				0.468	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			16	68	0	0	0	1	0	16	68				
ZNF516	9658	broad.mit.edu	37	18	74091257	74091257	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr18:74091257C>T	ENST00000443185.2	-	4	3130	c.2813G>A	c.(2812-2814)cGg>cAg	p.R938Q	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	938					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CGCGCCAGCCCGGGCGATGAC	0.701																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2812-2814)cGg>cAg		zinc finger protein 516							16.0	21.0	19.0					18																	74091257		1745	3868	5613	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091257C>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2813G>A	18.37:g.74091257C>T	ENSP00000394757:p.Arg938Gln					ZNF516_ENST00000524431.2_5'UTR	p.R938Q	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	4	3130	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	938						Missense_Mutation	SNP	ENST00000443185.2	37	c.2813G>A		.	.	.	.	.	.	.	.	.	.	C	14.11	2.438514	0.43326	.	.	ENSG00000101493	ENST00000443185	T	0.12984	2.63	4.13	4.13	0.48395	.	1.522980	0.04550	N	0.389680	T	0.27169	0.0666	.	.	.	0.28340	N	0.921378	D	0.71674	0.998	P	0.54372	0.75	T	0.13308	-1.0514	9	0.87932	D	0	-34.9481	9.86	0.41109	0.0:0.9047:0.0:0.0953	.	938	Q92618	ZN516_HUMAN	Q	938	ENSP00000394757:R938Q	ENSP00000394757:R938Q	R	-	2	0	ZNF516	72220245	0.986000	0.35501	0.315000	0.25238	0.112000	0.19704	2.887000	0.48586	2.314000	0.78098	0.491000	0.48974	CGG		0.701	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		10	45	0	0	0	1	0	10	45				
HAUS4	54930	broad.mit.edu	37	14	23417081	23417081	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr14:23417081G>C	ENST00000206474.7	-	7	956	c.704C>G	c.(703-705)tCc>tGc	p.S235C	HAUS4_ENST00000555986.1_Missense_Mutation_p.S190C|HAUS4_ENST00000490506.1_Missense_Mutation_p.S111C|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000541587.1_Missense_Mutation_p.S235C|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000397409.4_Intron|HAUS4_ENST00000554446.1_Intron|RP11-298I3.5_ENST00000555074.1_Silent_p.L64L|HAUS4_ENST00000555367.1_Missense_Mutation_p.S190C|HAUS4_ENST00000342454.8_Missense_Mutation_p.S190C|HAUS4_ENST00000347758.2_Intron			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	235					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						ATAAACCTGGGAGTAAGCAGC	0.542																																						ENST00000206474.7																			0				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						c.(703-705)tCc>tGc		HAUS augmin-like complex, subunit 4							122.0	112.0	116.0					14																	23417081		2203	4300	6503	SO:0001583	missense	54930				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr14:23417081G>C	AK000431	CCDS9580.1, CCDS53886.1	14q11.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000092036	ENSG00000092036		"""HAUS augmin-like complex subunits"""	20163	protein-coding gene	gene with protein product		613431	"""chromosome 14 open reading frame 94"""	C14orf94		19427217	Standard	NM_017815		Approved	FLJ20424	uc001wht.3	Q9H6D7	OTTHUMG00000028710	ENST00000206474.7:c.704C>G	14.37:g.23417081G>C	ENSP00000206474:p.Ser235Cys					HAUS4_ENST00000555986.1_Missense_Mutation_p.S190C|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000397409.4_Intron|HAUS4_ENST00000490506.1_Missense_Mutation_p.S111C|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000555367.1_Missense_Mutation_p.S190C|HAUS4_ENST00000541587.1_Missense_Mutation_p.S235C|RP11-298I3.5_ENST00000555074.1_Silent_p.L64L|HAUS4_ENST00000347758.2_Intron|HAUS4_ENST00000342454.8_Missense_Mutation_p.S190C|HAUS4_ENST00000554446.1_Intron	p.S235C			Q9H6D7	HAUS4_HUMAN			7	956	-			235					B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	Missense_Mutation	SNP	ENST00000206474.7	37	c.704C>G	CCDS9580.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666661	0.47677	.	.	ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000259132	ENST00000206474;ENST00000490506;ENST00000541587;ENST00000342454;ENST00000555367;ENST00000555986;ENST00000555040;ENST00000555074	.	.	.	5.24	5.24	0.73138	.	0.182306	0.49916	D	0.000125	T	0.62853	0.2462	L	0.51422	1.61	0.80722	D	1	D;D	0.63880	0.961;0.993	P;P	0.53360	0.639;0.724	T	0.63319	-0.6664	9	0.45353	T	0.12	-5.6813	14.3679	0.66817	0.0:0.0:1.0:0.0	.	190;235	Q9H6D7-4;Q9H6D7	.;HAUS4_HUMAN	C	235;111;235;190;190;190;235;12	.	ENSP00000206474:S235C	S	-	2	0	RP11-298I3.5;HAUS4	22486921	1.000000	0.71417	1.000000	0.80357	0.212000	0.24457	2.355000	0.44107	2.456000	0.83038	0.585000	0.79938	TCC		0.542	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071680.3			17	132	0	0	0	1	0	17	132				
FAT3	120114	broad.mit.edu	37	11	92531574	92531574	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr11:92531574C>T	ENST00000298047.6	+	9	5412	c.5395C>T	c.(5395-5397)Cga>Tga	p.R1799*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.R1799*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.R1649*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1799	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACTGGTGATTCGAGCCACAGA	0.483										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(5395-5397)Cga>Tga		FAT atypical cadherin 3							27.0	27.0	27.0					11																	92531574		1939	4160	6099	SO:0001587	stop_gained	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92531574C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5395C>T	11.37:g.92531574C>T	ENSP00000298047:p.Arg1799*	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Nonsense_Mutation_p.R1649*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.R1799*	p.R1799*			Q8TDW7	FAT3_HUMAN			9	5412	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1799			Cadherin 16.		B5MDB0|Q96AU6	Nonsense_Mutation	SNP	ENST00000298047.6	37	c.5395C>T		.	.	.	.	.	.	.	.	.	.	C	46	12.180617	0.99644	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	.	.	.	5.93	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0051	0.64459	0.2752:0.7248:0.0:0.0	.	.	.	.	X	1799;1799;1649	.	ENSP00000298047:R1799X	R	+	1	2	FAT3	92171222	0.969000	0.33509	1.000000	0.80357	0.997000	0.91878	1.951000	0.40333	1.469000	0.48083	0.591000	0.81541	CGA		0.483	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		6	23	0	0	0	1	0	6	23				
ITPR1	3708	broad.mit.edu	37	3	4774816	4774816	+	Silent	SNP	C	C	T	rs61757111		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr3:4774816C>T	ENST00000443694.2	+	40	5220	c.5220C>T	c.(5218-5220)aaC>aaT	p.N1740N	ITPR1_ENST00000423119.2_Silent_p.N1707N|ITPR1_ENST00000354582.6_Silent_p.N1740N|ITPR1_ENST00000302640.8_Silent_p.N1740N|ITPR1_ENST00000357086.4_Silent_p.N1707N|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Silent_p.N1692N			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1755					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	ACTATGGAAACGTCAGACCTT	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		19072	0.0		0.001	False		,,,				2504	0.0					ENST00000354582.6																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(5218-5220)aaC>aaT		inositol 1,4,5-trisphosphate receptor, type 1		C	,,	3,3937		0,3,1967	71.0	72.0	72.0		5121,5220,5076	4.7	1.0	3	dbSNP_129	72	23,8261		0,23,4119	no	coding-synonymous,coding-synonymous,coding-synonymous	ITPR1	NM_001099952.2,NM_001168272.1,NM_002222.5	,,	0,26,6086	TT,TC,CC		0.2776,0.0761,0.2127	,,	1707/2711,1740/2744,1692/2696	4774816	26,12198	1970	4142	6112	SO:0001819	synonymous_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4774816C>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.5220C>T	3.37:g.4774816C>T						ITPR1_ENST00000456211.2_Silent_p.N1692N|ITPR1_ENST00000443694.2_Silent_p.N1740N|ITPR1_ENST00000423119.2_Silent_p.N1707N|ITPR1_ENST00000357086.4_Silent_p.N1707N|ITPR1_ENST00000302640.8_Silent_p.N1740N|ITPR1_ENST00000544951.1_Intron	p.N1740N			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	42	5570	+			1755					E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	c.5220C>T	CCDS54551.1																																																																																				0.527	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		7	17	0	0	0	1	0	7	17				
DNM2	1785	broad.mit.edu	37	19	10883259	10883259	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr19:10883259G>A	ENST00000355667.6	+	3	420	c.340G>A	c.(340-342)Ggc>Agc	p.G114S	DNM2_ENST00000389253.4_Missense_Mutation_p.G114S|DNM2_ENST00000585892.1_Missense_Mutation_p.G114S|DNM2_ENST00000314646.5_Missense_Mutation_p.G114S|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000408974.4_Missense_Mutation_p.G114S|DNM2_ENST00000359692.6_Missense_Mutation_p.G114S	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	114	Dynamin-type G.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GACCAACAAAGGCATCTCCCC	0.547			"""F, N, Splice, Mis, O"""		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"""F, N, Splice, Mis, O"""	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(340-342)Ggc>Agc		dynamin 2							112.0	81.0	91.0					19																	10883259		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10883259G>A		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.340G>A	19.37:g.10883259G>A	ENSP00000347890:p.Gly114Ser					DNM2_ENST00000585892.1_Missense_Mutation_p.G114S|DNM2_ENST00000408974.4_Missense_Mutation_p.G114S|DNM2_ENST00000359692.6_Missense_Mutation_p.G114S|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000355667.6_Missense_Mutation_p.G114S|DNM2_ENST00000389253.4_Missense_Mutation_p.G114S	p.G114S			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		3	504	+			114					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.340G>A	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	G	36	5.692831	0.96793	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	D;D;D;D;D	0.96073	-3.9;-3.9;-3.9;-3.9;-3.9	5.47	5.47	0.80525	Dynamin, GTPase domain (2);	0.000000	0.85682	D	0.000000	D	0.97832	0.9288	M	0.82716	2.605	0.80722	D	1	D;D;D;D	0.89917	0.995;0.999;1.0;1.0	D;D;D;D	0.97110	0.97;0.991;0.995;1.0	D	0.98446	1.0589	10	0.72032	D	0.01	6.8957	18.096	0.89490	0.0:0.0:1.0:0.0	.	114;114;114;114	A8K1B6;P50570-2;P50570;E9PEQ4	.;.;DYN2_HUMAN;.	S	103;114;114;114;114;114	ENSP00000386192:G114S;ENSP00000347890:G114S;ENSP00000352721:G114S;ENSP00000373905:G114S;ENSP00000313164:G114S	ENSP00000313164:G114S	G	+	1	0	DNM2	10744259	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.858000	0.99539	2.581000	0.87130	0.563000	0.77884	GGC		0.547	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		14	61	0	0	0	1	0	14	61				
PIK3CB	5291	broad.mit.edu	37	3	138433537	138433537	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr3:138433537G>C	ENST00000477593.1	-	8	1148	c.1075C>G	c.(1075-1077)Cat>Gat	p.H359D	PIK3CB_ENST00000544716.1_5'Flank|PIK3CB_ENST00000289153.2_Missense_Mutation_p.H359D			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	359	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|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)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	TCAGTACCATGAAAAAGACCA	0.363																																						ENST00000477593.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(1075-1077)Cat>Gat		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta							121.0	124.0	123.0					3																	138433537		2203	4299	6502	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138433537G>C		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1075C>G	3.37:g.138433537G>C	ENSP00000418143:p.His359Asp					PIK3CB_ENST00000289153.2_Missense_Mutation_p.H359D	p.H359D			P42338	PK3CB_HUMAN			8	1148	-			359			C2 PI3K-type.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.1075C>G	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.009489|5.009489	0.93346|0.93346	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000493568;ENST00000462294|ENST00000477593;ENST00000289153	T;T|T;T	0.77489|0.70045	-1.1;-0.43|-0.45;-0.45	5.62|5.62	5.62|5.62	0.85841|0.85841	.|C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84723|0.84723	0.5535|0.5535	M|M	0.85542|0.85542	2.76|2.76	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.86061|0.86061	0.1532|0.1532	7|10	0.72032|0.72032	D|D	0.01|0.01	-24.5735|-24.5735	20.0114|20.0114	0.97452|0.97452	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|359	.|P42338	.|PK3CB_HUMAN	L|D	7;169|359	ENSP00000417869:F7L;ENSP00000418834:F169L|ENSP00000418143:H359D;ENSP00000289153:H359D	ENSP00000418834:F169L|ENSP00000289153:H359D	F|H	-|-	3|1	2|0	PIK3CB|PIK3CB	139916227|139916227	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.352000|9.352000	0.97076|0.97076	2.795000|2.795000	0.96236|0.96236	0.655000|0.655000	0.94253|0.94253	TTC|CAT		0.363	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			14	154	0	0	0	1	0	14	154				
SPPL3	121665	broad.mit.edu	37	12	121206807	121206807	+	Silent	SNP	G	G	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr12:121206807G>C	ENST00000353487.2	-	7	1061	c.558C>G	c.(556-558)ctC>ctG	p.L186L		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3	187						Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGAGACCTTGAGGCTCGGCA	0.557																																						ENST00000353487.2																			0											c.(556-558)ctC>ctG		signal peptide peptidase like 3							47.0	43.0	45.0					12																	121206807		2203	4300	6503	SO:0001819	synonymous_variant	121665					integral to membrane	aspartic-type endopeptidase activity	g.chr12:121206807G>C		CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"""intramembrane protease 2"", ""presenilin-like protein 4"""	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.558C>G	12.37:g.121206807G>C							p.L186L	NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN			7	1061	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		187					Q3MJ04|Q8TAU4|Q96DD9	Silent	SNP	ENST00000353487.2	37	c.558C>G	CCDS9208.1																																																																																				0.557	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402980.2	NM_139015		4	9	0	0	0	1	0	4	9				
RBM8A	9939	broad.mit.edu	37	1	145508277	145508277	+	Silent	SNP	A	A	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:145508277A>T	ENST00000330165.8	+	3	267	c.198A>T	c.(196-198)ccA>ccT	p.P66P	RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RBM8A_ENST00000369307.3_Silent_p.P65P|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|GNRHR2_ENST00000312753.5_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A	66					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AACCCGGACCACAACGCTGTG	0.488																																						ENST00000330165.7																			0				kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(196-198)ccA>ccT		RNA binding motif protein 8A							104.0	107.0	106.0					1																	145508277		2203	4300	6503	SO:0001819	synonymous_variant	9939				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr1:145508277A>T	AF127761	CCDS72872.1	1q21.1	2013-02-12			ENSG00000131795			"""RNA binding motif (RRM) containing"""	9905	protein-coding gene	gene with protein product		605313		RBM8		11004516, 11013075	Standard	NM_005105		Approved	ZNRP, BOV-1A, BOV-1B, BOV-1C, RBM8B, Y14	uc001ent.2	Q9Y5S9	OTTHUMG00000013736	ENST00000330165.8:c.198A>T	1.37:g.145508277A>T						RBM8A_ENST00000369307.3_Silent_p.P65P|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000447686.2_RNA	p.P66P	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN			3	267	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		66					B3KQI9|Q6FHD1|Q6IQ40|Q9GZX8|Q9NZI4	Silent	SNP	ENST00000330165.8	37	c.198A>T	CCDS916.1																																																																																				0.488	RBM8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038503.2	NM_005105		12	78	0	0	0	1	0	12	78				
TMEM225	338661	broad.mit.edu	37	11	123753921	123753921	+	Missense_Mutation	SNP	C	C	T	rs114104204		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr11:123753921C>T	ENST00000375026.2	-	4	818	c.602G>A	c.(601-603)cGt>cAt	p.R201H		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	201					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GACAATGCTACGAGGCATTGC	0.418													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19832	0.0		0.0	False		,,,				2504	0.0					ENST00000375026.2																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						c.(601-603)cGt>cAt		transmembrane protein 225							173.0	158.0	163.0					11																	123753921		2202	4299	6501	SO:0001583	missense	338661					integral to membrane		g.chr11:123753921C>T	AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"""PMP22 claudin domain containing"", ""protein phosphatase 1, regulatory subunit 154"""						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.602G>A	11.37:g.123753921C>T	ENSP00000364166:p.Arg201His						p.R201H	NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN			4	818	-			201						Missense_Mutation	SNP	ENST00000375026.2	37	c.602G>A	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.468554	0.26335	.	.	ENSG00000204300	ENST00000375026	T	0.47528	0.84	3.89	0.927	0.19437	.	0.162130	0.29814	N	0.011138	T	0.27765	0.0683	L	0.34521	1.04	0.09310	N	1	P	0.43392	0.805	B	0.36418	0.224	T	0.17776	-1.0358	10	0.56958	D	0.05	-6.2455	4.1276	0.10134	0.0:0.5893:0.1933:0.2174	.	201	Q6GV28	TM225_HUMAN	H	201	ENSP00000364166:R201H	ENSP00000364166:R201H	R	-	2	0	TMEM225	123259131	0.187000	0.23238	0.019000	0.16419	0.054000	0.15201	0.095000	0.15127	0.213000	0.20722	-0.136000	0.14681	CGT		0.418	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743		12	70	0	0	0	1	0	12	70				
GRN	2896	broad.mit.edu	37	17	42427098	42427098	+	Nonsense_Mutation	SNP	C	C	T	rs63750411		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr17:42427098C>T	ENST00000053867.3	+	4	390	c.328C>T	c.(328-330)Cga>Tga	p.R110*	GRN_ENST00000589265.1_Nonsense_Mutation_p.R110*	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	110					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGCAGACGGGCGATCCTGCTT	0.657																																						ENST00000053867.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	GRCh37	CM074264	GRN	M	rs63750411	c.(328-330)Cga>Tga		granulin							40.0	35.0	37.0					17																	42427098		2203	4300	6503	SO:0001587	stop_gained	2896				signal transduction	extracellular space	cytokine activity|growth factor activity	g.chr17:42427098C>T	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.328C>T	17.37:g.42427098C>T	ENSP00000053867:p.Arg110*					GRN_ENST00000589265.1_Nonsense_Mutation_p.R110*	p.R110*	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	4	390	+		Prostate(33;0.0181)	110					D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Nonsense_Mutation	SNP	ENST00000053867.3	37	c.328C>T	CCDS11483.1	.	.	.	.	.	.	.	.	.	.	c	22.9	4.350336	0.82132	.	.	ENSG00000030582	ENST00000053867;ENST00000357351	.	.	.	4.11	-0.683	0.11335	.	1.620550	0.04033	N	0.301813	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	0.1814	7.8826	0.29631	0.4665:0.3906:0.1429:0.0	rs63750411	.	.	.	X	110	.	ENSP00000053867:R110X	R	+	1	2	GRN	39782624	0.000000	0.05858	0.011000	0.14972	0.167000	0.22549	-1.139000	0.03213	-0.264000	0.09365	0.450000	0.29827	CGA		0.657	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	NM_002087		6	31	0	0	0	1	0	6	31				
CAPZB	832	broad.mit.edu	37	1	19712105	19712105	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:19712105C>T	ENST00000375142.1	-	3	155	c.109G>A	c.(109-111)Gag>Aag	p.E37K	CAPZB_ENST00000433834.1_Missense_Mutation_p.E66K|CAPZB_ENST00000264203.3_Missense_Mutation_p.E63K|CAPZB_ENST00000401084.2_Missense_Mutation_p.E37K|CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000375144.1_Missense_Mutation_p.E25K|CAPZB_ENST00000264202.6_Missense_Mutation_p.E37K	NM_001206540.1	NP_001193469.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	37					actin cytoskeleton organization (GO:0030036)|barbed-end actin filament capping (GO:0051016)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|muscle fiber development (GO:0048747)|negative regulation of microtubule polymerization (GO:0031115)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)|regulation of protein kinase C signaling (GO:0090036)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|membrane (GO:0016020)|WASH complex (GO:0071203)|Z disc (GO:0030018)	actin binding (GO:0003779)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		AGGAGATCCTCACATAGACTG	0.478																																						ENST00000264203.3																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7						c.(187-189)Gag>Aag		capping protein (actin filament) muscle Z-line, beta							69.0	71.0	70.0					1																	19712105		1975	4148	6123	SO:0001583	missense	832				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding	g.chr1:19712105C>T	U03271	CCDS41277.1, CCDS55579.1, CCDS72717.1, CCDS72718.1	1p36.1	2014-05-09			ENSG00000077549	ENSG00000077549			1491	protein-coding gene	gene with protein product		601572					Standard	NM_004930		Approved		uc021ohr.1	P47756	OTTHUMG00000002556	ENST00000375142.1:c.109G>A	1.37:g.19712105C>T	ENSP00000364284:p.Glu37Lys					CAPZB_ENST00000401084.2_Missense_Mutation_p.E37K|CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000433834.1_Missense_Mutation_p.E66K|CAPZB_ENST00000375144.1_Missense_Mutation_p.E25K|CAPZB_ENST00000264202.6_Missense_Mutation_p.E37K|CAPZB_ENST00000375142.1_Missense_Mutation_p.E37K	p.E63K			P47756	CAPZB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)	4	680	-		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)	37					Q32Q68|Q5U0L4|Q8TB49|Q9NUC4	Missense_Mutation	SNP	ENST00000375142.1	37	c.187G>A	CCDS55579.1	.	.	.	.	.	.	.	.	.	.	C	33	5.260546	0.95368	.	.	ENSG00000077549	ENST00000401084;ENST00000264203;ENST00000375144;ENST00000375142;ENST00000433834;ENST00000375145;ENST00000264202;ENST00000413711;ENST00000457768	.	.	.	5.61	5.61	0.85477	.	0.092039	0.85682	D	0.000000	D	0.86863	0.6035	M	0.93375	3.41	0.80722	D	1	D;D;D;D	0.69078	0.987;0.997;0.992;0.976	D;D;D;D	0.87578	0.977;0.998;0.963;0.966	D	0.89628	0.3853	9	0.66056	D	0.02	-12.8355	18.2012	0.89839	0.0:1.0:0.0:0.0	.	66;63;37;25	B1AK88;B1AK85;P47756-2;B1AK87	.;.;.;.	K	37;63;25;37;66;99;37;25;9	.	ENSP00000264202:E37K	E	-	1	0	CAPZB	19584692	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.090000	0.76916	2.642000	0.89623	0.561000	0.74099	GAG		0.478	CAPZB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007260.1			15	65	0	0	0	1	0	15	65				
CALML3	810	broad.mit.edu	37	10	5567421	5567421	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr10:5567421A>G	ENST00000315238.1	+	1	498	c.373A>G	c.(373-375)Atg>Gtg	p.M125V	CALML3-AS1_ENST00000545372.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000543008.1_RNA|CALML3-AS1_ENST00000542093.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	125	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(3)|lung(2)	5						GGTGGACGAGATGATCCGGGC	0.652																																					Colon(173;2070 2647 27580 52203)	ENST00000315238.1																			0				endometrium(3)|lung(2)	5						c.(373-375)Atg>Gtg		calmodulin-like 3							78.0	67.0	70.0					10																	5567421		2203	4300	6503	SO:0001583	missense	810						calcium ion binding	g.chr10:5567421A>G	X13461	CCDS7069.1	10p15.1	2013-01-10			ENSG00000178363	ENSG00000178363		"""EF-hand domain containing"""	1452	protein-coding gene	gene with protein product		114184				8476923	Standard	NM_005185		Approved	CLP	uc001iie.1	P27482	OTTHUMG00000017597	ENST00000315238.1:c.373A>G	10.37:g.5567421A>G	ENSP00000315299:p.Met125Val					CALML3-AS1_ENST00000545372.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000542093.1_RNA	p.M125V	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN			1	498	+			125			EF-hand 4.		B2R9V6|Q5SQI4	Missense_Mutation	SNP	ENST00000315238.1	37	c.373A>G	CCDS7069.1	.	.	.	.	.	.	.	.	.	.	A	13.79	2.342846	0.41498	.	.	ENSG00000178363	ENST00000315238	T	0.37915	1.17	5.11	5.11	0.69529	EF-hand-like domain (1);	0.000000	0.64402	D	0.000008	T	0.42832	0.1220	N	0.17278	0.47	0.58432	D	0.999997	D	0.89917	1.0	D	0.68192	0.956	T	0.48758	-0.9007	10	0.87932	D	0	-45.0356	13.7413	0.62849	1.0:0.0:0.0:0.0	.	125	P27482	CALL3_HUMAN	V	125	ENSP00000315299:M125V	ENSP00000315299:M125V	M	+	1	0	CALML3	5557421	1.000000	0.71417	0.998000	0.56505	0.128000	0.20619	6.203000	0.72137	1.917000	0.55516	0.455000	0.32223	ATG		0.652	CALML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046555.1	NM_005185		9	50	0	0	0	1	0	9	50				
LPP	4026	broad.mit.edu	37	3	188584112	188584112	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr3:188584112T>G	ENST00000312675.4	+	9	1781	c.1535T>G	c.(1534-1536)aTc>aGc	p.I512S	LPP_ENST00000543006.1_Missense_Mutation_p.I512S	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	512	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CTGGATGGGATCCCATTCACT	0.567			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	"""HMGA2, MLL, C12orf9"""		"""lipoma, leukemia"""	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(1534-1536)aTc>aGc		LIM domain containing preferred translocation partner in lipoma							129.0	104.0	112.0					3																	188584112		2203	4300	6503	SO:0001583	missense	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188584112T>G	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1535T>G	3.37:g.188584112T>G	ENSP00000318089:p.Ile512Ser					LPP_ENST00000543006.1_Missense_Mutation_p.I512S	p.I512S	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	9	1781	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	512			LIM zinc-binding 2.		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	c.1535T>G	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	T	32	5.190045	0.94923	.	.	ENSG00000145012	ENST00000312675;ENST00000543006	D;D	0.86497	-2.13;-2.13	5.86	5.86	0.93980	Zinc finger, LIM-type (4);	0.044035	0.85682	D	0.000000	D	0.86830	0.6027	L	0.27053	0.805	0.80722	D	1	D;P	0.59767	0.986;0.862	P;P	0.60473	0.875;0.794	D	0.83530	0.0090	10	0.13470	T	0.59	.	15.4218	0.75018	0.0:0.0:0.0:1.0	.	365;512	B7Z8W0;Q93052	.;LPP_HUMAN	S	512	ENSP00000318089:I512S;ENSP00000438891:I512S	ENSP00000318089:I512S	I	+	2	0	LPP	190066806	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.698000	0.84413	2.234000	0.73211	0.533000	0.62120	ATC		0.567	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		6	64	0	0	0	1	0	6	64				
BSCL2	26580	broad.mit.edu	37	11	62459942	62459942	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr11:62459942C>T	ENST00000403550.1	-	6	1000	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	LRRN4CL_ENST00000317449.4_5'Flank|BSCL2_ENST00000278893.7_Missense_Mutation_p.V193M|BSCL2_ENST00000405837.1_Missense_Mutation_p.V257M|BSCL2_ENST00000537604.1_5'Flank|BSCL2_ENST00000421906.1_Missense_Mutation_p.V193M|BSCL2_ENST00000433053.1_Missense_Mutation_p.V257M|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000407022.3_Missense_Mutation_p.V193M|BSCL2_ENST00000360796.5_Missense_Mutation_p.V257M			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	193					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GTGGTCGGCACGTACTGTGAG	0.617																																						ENST00000433053.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						c.(769-771)Gtg>Atg		Berardinelli-Seip congenital lipodystrophy 2 (seipin)							80.0	64.0	69.0					11																	62459942		2202	4299	6501	SO:0001583	missense	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62459942C>T		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.577G>A	11.37:g.62459942C>T	ENSP00000385561:p.Val193Met					BSCL2_ENST00000278893.7_Missense_Mutation_p.V193M|BSCL2_ENST00000421906.1_Missense_Mutation_p.V193M|BSCL2_ENST00000405837.1_Missense_Mutation_p.V257M|BSCL2_ENST00000407022.3_Missense_Mutation_p.V193M|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000360796.5_Missense_Mutation_p.V257M|BSCL2_ENST00000403550.1_Missense_Mutation_p.V193M	p.V257M			Q96G97	BSCL2_HUMAN			7	1325	-			193					G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Missense_Mutation	SNP	ENST00000403550.1	37	c.769G>A	CCDS8031.1	.	.	.	.	.	.	.	.	.	.	C	7.724	0.697769	0.15106	.	.	ENSG00000168000	ENST00000405837;ENST00000433053;ENST00000278893;ENST00000360796;ENST00000403098;ENST00000403550;ENST00000407022;ENST00000421906;ENST00000448568	D;D;D;D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	5.53	4.42	0.53409	.	0.775483	0.11501	U	0.557713	T	0.80696	0.4672	L	0.40543	1.245	0.09310	N	1	P;P;P;P	0.45212	0.608;0.656;0.814;0.853	B;B;B;B	0.34093	0.055;0.116;0.118;0.175	T	0.71241	-0.4651	10	0.31617	T	0.26	-2.5188	8.4492	0.32860	0.0:0.8187:0.0:0.1813	.	193;193;257;193	Q96G97-3;Q53EN3;G3XAE4;Q96G97	.;.;.;BSCL2_HUMAN	M	257;257;193;257;31;193;193;193;193	ENSP00000385332:V257M;ENSP00000414002:V257M;ENSP00000278893:V193M;ENSP00000354032:V257M;ENSP00000384258:V31M;ENSP00000385561:V193M;ENSP00000384080:V193M;ENSP00000413209:V193M;ENSP00000413340:V193M	ENSP00000278893:V193M	V	-	1	0	BSCL2	62216518	0.221000	0.23642	0.973000	0.42090	0.094000	0.18550	0.932000	0.28884	2.596000	0.87737	0.561000	0.74099	GTG		0.617	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		5	48	0	0	0	1	0	5	48				
TTN	7273	broad.mit.edu	37	2	179537198	179537198	+	Silent	SNP	T	T	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr2:179537198T>C	ENST00000591111.1	-	150	33968	c.33744A>G	c.(33742-33744)gtA>gtG	p.V11248V	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Silent_p.V11622V|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V10321V|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	11248	Glu-rich.|Pro-rich.				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)			CTTTCTTTGGTACTTCAGGCA	0.373																																						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.(34864-34866)gtA>gtG		titin							173.0	175.0	175.0					2																	179537198		1826	4078	5904	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179537198T>C	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.33744A>G	2.37:g.179537198T>C						TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.V11248V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.V10321V|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA	p.V11622V	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)		154	35090	-			11455			Glu-rich.|Pro-rich.		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	Silent	SNP	ENST00000591111.1	37	c.34866A>G																																																																																					0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		40	181	0	0	0	1	0	40	181				
SDHAP3	728609	broad.mit.edu	37	5	1593261	1593261	+	lincRNA	SNP	A	A	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr5:1593261A>T	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							CTCAGGGCACATGCCTGACCA	0.542																																						ENST00000436493.2																			0																																																			728609							g.chr5:1593261A>T																													5.37:g.1593261A>T														0	364	-									RNA	SNP	ENST00000605200.1	37																																																																																						0.542	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			4	54	0	0	0	1	0	4	54				
RELN	5649	broad.mit.edu	37	7	103175930	103175930	+	Splice_Site	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr7:103175930C>T	ENST00000428762.1	-	46	7341	c.7182G>A	c.(7180-7182)gcG>gcA	p.A2394A	RELN_ENST00000424685.2_Splice_Site_p.A2394A|RELN_ENST00000343529.5_Splice_Site_p.A2394A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2394					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCAATTCAATCGCTGAAACAG	0.383																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.e46-1		reelin							112.0	97.0	102.0					7																	103175930		2203	4300	6503	SO:0001630	splice_region_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103175930C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7181-1G>A	7.37:g.103175930C>T						RELN_ENST00000343529.5_Splice_Site_p.A2394_splice|RELN_ENST00000424685.2_Splice_Site_p.A2394_splice	p.A2394_splice	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	46	7341	-			2394					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Splice_Site	SNP	ENST00000428762.1	37	c.7180_splice	CCDS47680.1																																																																																				0.383	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	Silent	7	35	0	0	0	1	0	7	35				
GRIK4	2900	broad.mit.edu	37	11	120702618	120702618	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr11:120702618C>A	ENST00000527524.2	+	7	856	c.569C>A	c.(568-570)tCc>tAc	p.S190Y	GRIK4_ENST00000438375.2_Missense_Mutation_p.S190Y	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	190					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GACACGCTGTCCGTCCGCATG	0.602																																						ENST00000527524.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69						c.(568-570)tCc>tAc		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						99.0	95.0	96.0					11																	120702618		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120702618C>A	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.569C>A	11.37:g.120702618C>A	ENSP00000435648:p.Ser190Tyr					GRIK4_ENST00000438375.2_Missense_Mutation_p.S190Y	p.S190Y			Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	7	856	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	190					A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.569C>A	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999591	0.54147	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.23348	1.91;1.91	4.81	3.88	0.44766	Extracellular ligand-binding receptor (1);	0.539658	0.21236	N	0.077888	T	0.45696	0.1355	M	0.63428	1.95	0.58432	D	0.999999	D;D	0.71674	0.998;0.998	D;D	0.72075	0.965;0.976	T	0.28744	-1.0034	10	0.28530	T	0.3	.	14.2607	0.66083	0.15:0.85:0.0:0.0	.	190;190	A6H8K8;Q16099	.;GRIK4_HUMAN	Y	190	ENSP00000435648:S190Y;ENSP00000404063:S190Y	ENSP00000404063:S190Y	S	+	2	0	GRIK4	120207828	1.000000	0.71417	0.693000	0.30195	0.980000	0.70556	7.314000	0.78988	1.189000	0.43028	0.561000	0.74099	TCC		0.602	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		12	76	1	0	0.000978159	1	0.000991936	12	76				
DOPEY2	9980	broad.mit.edu	37	21	37650303	37650303	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr21:37650303C>T	ENST00000399151.3	+	29	5828	c.5743C>T	c.(5743-5745)Cga>Tga	p.R1915*		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1915					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CATGGTTTATCGAAGTGATGA	0.478																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(5743-5745)Cga>Tga		dopey family member 2							195.0	172.0	180.0					21																	37650303		2203	4300	6503	SO:0001587	stop_gained	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37650303C>T	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.5743C>T	21.37:g.37650303C>T	ENSP00000382104:p.Arg1915*						p.R1915*	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			29	5828	+			1915					D3DSG5|Q6PJQ7|Q9UEZ3	Nonsense_Mutation	SNP	ENST00000399151.3	37	c.5743C>T	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	C	46	12.928018	0.99707	.	.	ENSG00000142197	ENST00000399151	.	.	.	5.09	4.18	0.49190	.	0.063981	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	12.8272	0.57726	0.2974:0.7026:0.0:0.0	.	.	.	.	X	1915	.	ENSP00000382104:R1915X	R	+	1	2	DOPEY2	36572173	0.961000	0.32948	0.823000	0.32752	0.939000	0.58152	2.269000	0.43346	1.244000	0.43870	0.650000	0.86243	CGA		0.478	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		14	57	0	0	0	1	0	14	57				
TUBGCP6	85378	broad.mit.edu	37	22	50659212	50659212	+	Silent	SNP	A	A	C	rs141527317	byFrequency	TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr22:50659212A>C	ENST00000248846.5	-	16	3680	c.3576T>G	c.(3574-3576)tcT>tcG	p.S1192S	TUBGCP6_ENST00000439308.2_Silent_p.S1192S|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1192	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCAGACACGTGTC	0.617																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(3574-3576)tcT>tcG		tubulin, gamma complex associated protein 6							74.0	68.0	70.0					22																	50659212		2203	4300	6503	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50659212A>C	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3576T>G	22.37:g.50659212A>C						TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Silent_p.S1192S	p.S1192S	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	16	4068	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1192			9 X 27 AA tandem repeats.		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.3576T>G	CCDS14087.1																																																																																				0.617	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		11	65	0	0	0	1	0	11	65				
ATP7B	540	broad.mit.edu	37	13	52524492	52524492	+	Missense_Mutation	SNP	C	C	T	rs374592960		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr13:52524492C>T	ENST00000242839.4	-	10	2647	c.2491G>A	c.(2491-2493)Gtc>Atc	p.V831I	ATP7B_ENST00000448424.2_Missense_Mutation_p.V753I|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000417240.2_Missense_Mutation_p.V103I|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000418097.2_Missense_Mutation_p.V831I|ATP7B_ENST00000344297.5_Missense_Mutation_p.V669I|ATP7B_ENST00000400366.3_Missense_Mutation_p.V720I	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	831					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ACCACCTTGACGATATCGCCC	0.557									Wilson disease																													ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55						c.(2491-2493)Gtc>Atc		ATPase, Cu++ transporting, beta polypeptide		C	ILE/VAL,ILE/VAL	0,4244		0,0,2122	75.0	79.0	78.0		2491,2005	4.4	1.0	13		78	2,8496		0,2,4247	no	missense,missense	ATP7B	NM_000053.3,NM_001005918.2	29,29	0,2,6369	TT,TC,CC		0.0235,0.0,0.0157	benign,benign	831/1466,669/1259	52524492	2,12740	2122	4249	6371	SO:0001583	missense	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52524492C>T	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.2491G>A	13.37:g.52524492C>T	ENSP00000242839:p.Val831Ile					ATP7B_ENST00000400366.3_Missense_Mutation_p.V720I|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000418097.2_Missense_Mutation_p.V831I|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Missense_Mutation_p.V753I|ATP7B_ENST00000417240.2_Missense_Mutation_p.V103I|ATP7B_ENST00000344297.5_Missense_Mutation_p.V669I	p.V831I	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	10	2647	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	831					Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.2491G>A	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	3.737	-0.054291	0.07362	0.0	2.35E-4	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000418097	D;D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01;-3.01	5.54	4.37	0.52481	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.163004	0.52532	N	0.000064	T	0.75532	0.3862	N	0.04387	-0.21	0.80722	D	1	B;B;P;B;P;B;B	0.39216	0.002;0.004;0.487;0.002;0.664;0.005;0.005	B;B;B;B;B;B;B	0.34489	0.002;0.01;0.184;0.002;0.079;0.003;0.009	T	0.76149	-0.3065	10	0.02654	T	1	-15.5354	7.8425	0.29406	0.0:0.2956:0.0:0.7044	.	753;783;831;103;720;669;831	E7ET55;B7ZLR4;F5H748;E7EQQ2;P35670-3;P35670-2;P35670	.;.;.;.;.;.;ATP7B_HUMAN	I	831;720;669;103;753;831	ENSP00000242839:V831I;ENSP00000383217:V720I;ENSP00000342559:V669I;ENSP00000390360:V103I;ENSP00000416738:V753I;ENSP00000393343:V831I	ENSP00000242839:V831I	V	-	1	0	ATP7B	51422493	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.568000	0.45965	0.946000	0.37632	-0.302000	0.09304	GTC		0.557	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		8	41	0	0	0	1	0	8	41				
GRM6	2916	broad.mit.edu	37	5	178413416	178413416	+	Silent	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr5:178413416C>T	ENST00000517717.1	-	9	1877	c.1839G>A	c.(1837-1839)acG>acA	p.T613T	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Silent_p.T613T			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	613					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGACGATGGGCGTGTTGTTGT	0.677																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1837-1839)acG>acA		glutamate receptor, metabotropic 6							37.0	35.0	36.0					5																	178413416		2203	4300	6503	SO:0001819	synonymous_variant	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178413416C>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1839G>A	5.37:g.178413416C>T						GRM6_ENST00000517717.1_Silent_p.T613T|RP11-281O15.4_ENST00000519491.1_RNA	p.T613T	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	8	2017	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	613						Silent	SNP	ENST00000517717.1	37	c.1839G>A	CCDS4442.1																																																																																				0.677	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			5	34	0	0	0	1	0	5	34				
ARHGEF17	9828	broad.mit.edu	37	11	73021441	73021441	+	Silent	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr11:73021441C>T	ENST00000263674.3	+	1	2108	c.1758C>T	c.(1756-1758)atC>atT	p.I586I	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	586					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGCCCCTCATCGTCCAGGACC	0.647																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(1756-1758)atC>atT		Rho guanine nucleotide exchange factor (GEF) 17							47.0	49.0	49.0					11																	73021441		2200	4293	6493	SO:0001819	synonymous_variant	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73021441C>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1758C>T	11.37:g.73021441C>T							p.I586I	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	2108	+			586					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.1758C>T	CCDS8221.1																																																																																				0.647	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		12	78	0	0	0	1	0	12	78				
GALNTL6	442117	broad.mit.edu	37	4	173730662	173730662	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr4:173730662G>A	ENST00000506823.1	+	6	1361	c.704G>A	c.(703-705)tGc>tAc	p.C235Y	GALNTL6_ENST00000508122.1_Missense_Mutation_p.C218Y	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	235	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GACTCCCACTGCGAGGTCAAT	0.552																																						ENST00000506823.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						c.(703-705)tGc>tAc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6							75.0	68.0	70.0					4																	173730662		2203	4300	6503	SO:0001583	missense	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173730662G>A		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.704G>A	4.37:g.173730662G>A	ENSP00000423313:p.Cys235Tyr					GALNTL6_ENST00000508122.1_Missense_Mutation_p.C218Y	p.C235Y	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN			6	1361	+			235			Catalytic subdomain A.		Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	c.704G>A	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506675	0.85282	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.59772	0.24;0.24	5.45	5.45	0.79879	Glycosyl transferase, family 2 (1);	0.000000	0.64402	D	0.000001	D	0.83667	0.5304	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87821	0.2638	10	0.87932	D	0	.	19.6346	0.95724	0.0:0.0:1.0:0.0	.	235	Q49A17	GLTL6_HUMAN	Y	235;218	ENSP00000423313:C235Y;ENSP00000423827:C218Y	ENSP00000423313:C235Y	C	+	2	0	GALNTL6	173967237	1.000000	0.71417	0.999000	0.59377	0.880000	0.50808	9.813000	0.99286	2.720000	0.93068	0.491000	0.48974	TGC		0.552	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		15	43	0	0	0	1	0	15	43				
EHBP1	23301	broad.mit.edu	37	2	63086364	63086364	+	Nonsense_Mutation	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr2:63086364C>G	ENST00000263991.5	+	9	1282	c.800C>G	c.(799-801)tCa>tGa	p.S267*	EHBP1_ENST00000354487.3_Nonsense_Mutation_p.S232*|AC007098.1_ENST00000452397.1_RNA|EHBP1_ENST00000405015.3_Nonsense_Mutation_p.S232*|EHBP1_ENST00000405289.1_Nonsense_Mutation_p.S232*|EHBP1_ENST00000431489.1_Nonsense_Mutation_p.S232*	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	267						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			ACCGTGAATTCAAATCCATTT	0.348																																						ENST00000263991.5																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47						c.(799-801)tCa>tGa		EH domain binding protein 1							123.0	120.0	121.0					2																	63086364		2203	4300	6503	SO:0001587	stop_gained	23301					cytoplasm|membrane		g.chr2:63086364C>G	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.800C>G	2.37:g.63086364C>G	ENSP00000263991:p.Ser267*					EHBP1_ENST00000354487.3_Nonsense_Mutation_p.S232*|EHBP1_ENST00000405289.1_Nonsense_Mutation_p.S232*|EHBP1_ENST00000405015.3_Nonsense_Mutation_p.S232*|EHBP1_ENST00000431489.1_Nonsense_Mutation_p.S232*	p.S267*	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		9	1282	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		267					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Nonsense_Mutation	SNP	ENST00000263991.5	37	c.800C>G	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	C	37	6.470812	0.97594	.	.	ENSG00000115504	ENST00000405015;ENST00000405482;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	.	.	.	4.35	3.4	0.38934	.	0.809090	0.10539	N	0.662917	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	6.7269	0.23361	0.0:0.716:0.0:0.284	.	.	.	.	X	232;232;232;267;232;232	.	ENSP00000263991:S267X	S	+	2	0	EHBP1	62939868	0.977000	0.34250	1.000000	0.80357	0.944000	0.59088	0.780000	0.26760	0.887000	0.36136	0.591000	0.81541	TCA		0.348	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		17	52	0	0	0	1	0	17	52				
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G	rs369741558		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1				BMS1 pseudogene 20																		CAGATCAAGAAAGCACTCTGA	0.498																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664186A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664186A>G								NR_027293.1						0	709	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	62	0	0	0	1	0	3	62				
TPR	7175	broad.mit.edu	37	1	186329077	186329077	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:186329077C>G	ENST00000367478.4	-	12	1539	c.1243G>C	c.(1243-1245)Gag>Cag	p.E415Q	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	415					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTTTTGTTCTCTAGTTTCTCC	0.373			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(1243-1245)Gag>Cag		translocated promoter region, nuclear basket protein							137.0	120.0	125.0					1																	186329077		1832	4080	5912	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186329077C>G	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.1243G>C	1.37:g.186329077C>G	ENSP00000356448:p.Glu415Gln					TPR_ENST00000474852.1_5'UTR	p.E415Q	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	12	1539	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	415					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.1243G>C	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	31	5.092423	0.94149	.	.	ENSG00000047410	ENST00000367478	T	0.01059	5.39	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.08133	0.0203	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.94	T	0.01162	-1.1432	10	0.54805	T	0.06	.	20.1991	0.98252	0.0:1.0:0.0:0.0	.	415;415	Q15624;P12270	.;TPR_HUMAN	Q	415	ENSP00000356448:E415Q	ENSP00000356448:E415Q	E	-	1	0	TPR	184595700	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.731000	0.68554	2.775000	0.95449	0.650000	0.86243	GAG		0.373	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		6	39	0	0	0	1	0	6	39				
MIR518C	574477	broad.mit.edu	37	19	54214313	54214313	+	RNA	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr19:54214313C>T	ENST00000384822.1	+	0	101				MIR517A_ENST00000385001.1_RNA|MIR524_ENST00000385242.1_RNA|MIR519D_ENST00000385246.1_RNA	NR_030199.1				microRNA 518c																		GAAAAGAAGGCGCTTCCCTTT	0.438																																						ENST00000385242.1																			0																				112.0	105.0	107.0					19																	54214313		1568	3582	5150			574478							g.chr19:54214313C>T			19q13.42	2011-09-12		2008-12-18	ENSG00000207553	ENSG00000207553		"""ncRNAs / Micro RNAs"""	32109	non-coding RNA	RNA, micro				MIRN518C			Standard	NR_030199		Approved	hsa-mir-518c	uc021vac.1				19.37:g.54214313C>T								NR_030200.1						0	58	+									RNA	SNP	ENST00000384822.1	37																																																																																						0.438	MIR518C-201	KNOWN	basic	miRNA	miRNA		NR_030199		12	85	0	0	0	1	0	12	85				
SLC4A4	8671	broad.mit.edu	37	4	72352674	72352674	+	Nonsense_Mutation	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr4:72352674C>G	ENST00000264485.5	+	15	2030	c.1913C>G	c.(1912-1914)tCa>tGa	p.S638*	SLC4A4_ENST00000340595.3_Nonsense_Mutation_p.S594*|SLC4A4_ENST00000351898.6_Nonsense_Mutation_p.S638*|SLC4A4_ENST00000425175.1_Nonsense_Mutation_p.S638*	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	638					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GCTAATATCTCAATATCTAAT	0.299																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1780-1782)tCa>tGa		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							69.0	64.0	66.0					4																	72352674		2202	4297	6499	SO:0001587	stop_gained	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72352674C>G	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1913C>G	4.37:g.72352674C>G	ENSP00000264485:p.Ser638*					SLC4A4_ENST00000264485.5_Nonsense_Mutation_p.S638*|SLC4A4_ENST00000425175.1_Nonsense_Mutation_p.S638*|SLC4A4_ENST00000351898.6_Nonsense_Mutation_p.S638*	p.S594*	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		12	1977	+			638					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Nonsense_Mutation	SNP	ENST00000264485.5	37	c.1781C>G	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	C	37	6.361403	0.97507	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	.	.	.	5.65	5.65	0.86999	.	0.301032	0.37761	N	0.001943	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.5728	0.84629	0.0:1.0:0.0:0.0	.	.	.	.	X	638;638;638;594	.	ENSP00000264485:S638X	S	+	2	0	SLC4A4	72571538	0.982000	0.34865	0.969000	0.41365	0.169000	0.22640	3.296000	0.51802	2.941000	0.99782	0.655000	0.94253	TCA		0.299	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		9	23	0	0	0	1	0	9	23				
NEO1	4756	broad.mit.edu	37	15	73562474	73562474	+	Missense_Mutation	SNP	C	C	T	rs374229611		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr15:73562474C>T	ENST00000339362.5	+	18	3065	c.2618C>T	c.(2617-2619)aCg>aTg	p.T873M	NEO1_ENST00000558964.1_Missense_Mutation_p.T873M|NEO1_ENST00000560262.1_Missense_Mutation_p.T873M|NEO1_ENST00000261908.6_Missense_Mutation_p.T873M			Q92859	NEO1_HUMAN	neogenin 1	873	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.T873M(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						ATCAGGATTACGTGGGCAGAC	0.507																																						ENST00000339362.5																			1	Substitution - Missense(1)	p.T873M(1)	endometrium(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(2617-2619)aCg>aTg		neogenin 1		C	MET/THR,MET/THR,MET/THR	0,4396		0,0,2198	151.0	150.0	150.0		2618,2618,2618	5.4	0.2	15		150	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense,missense	NEO1	NM_001172623.1,NM_001172624.1,NM_002499.3	81,81,81	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	873/1409,873/1451,873/1462	73562474	1,12989	2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73562474C>T	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.2618C>T	15.37:g.73562474C>T	ENSP00000341198:p.Thr873Met					NEO1_ENST00000261908.6_Missense_Mutation_p.T873M|NEO1_ENST00000558964.1_Missense_Mutation_p.T873M|NEO1_ENST00000560262.1_Missense_Mutation_p.T873M	p.T873M			Q92859	NEO1_HUMAN			18	3065	+			873			Fibronectin type-III 5.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.2618C>T	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853063	0.71719	0.0	1.16E-4	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.58940	0.3;0.3	5.41	5.41	0.78517	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.090664	0.85682	D	0.000000	T	0.70527	0.3234	L	0.43152	1.355	0.80722	D	1	D;P;P;D	0.89917	1.0;0.893;0.935;1.0	D;B;B;D	0.78314	0.991;0.426;0.426;0.973	T	0.67577	-0.5635	10	0.39692	T	0.17	-9.754	19.5534	0.95331	0.0:1.0:0.0:0.0	.	873;873;595;873	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	M	873;595;873	ENSP00000341198:T873M;ENSP00000261908:T873M	ENSP00000261908:T873M	T	+	2	0	NEO1	71349527	1.000000	0.71417	0.184000	0.23157	0.938000	0.57974	4.944000	0.63561	2.697000	0.92050	0.563000	0.77884	ACG		0.507	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		18	152	0	0	0	1	0	18	152				
THAP11	57215	broad.mit.edu	37	16	67876805	67876805	+	Silent	SNP	A	A	G	rs28434205	byFrequency	TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr16:67876805A>G	ENST00000303596.1	+	1	593	c.348A>G	c.(346-348)caA>caG	p.Q116Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	116	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Q116Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		aacagcagcaacagcagcagc	0.682																																						ENST00000303596.1																			1	Substitution - coding silent(1)	p.Q116Q(1)	lung(1)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8						c.(346-348)caA>caG		THAP domain containing 11		G	,	14,3828		0,14,1907	21.0	26.0	24.0		348,	-3.2	0.7	16	dbSNP_125	24	20,7612		0,20,3796	no	coding-synonymous,intron	THAP11,CENPT	NM_020457.2,NM_025082.3	,	0,34,5703	GG,GA,AA		0.2621,0.3644,0.2963	,	116/315,	67876805	34,11440	1921	3816	5737	SO:0001819	synonymous_variant	57215				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding	g.chr16:67876805A>G	AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"""THAP (C2CH-type zinc finger) domain containing"""	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.348A>G	16.37:g.67876805A>G						CENPT_ENST00000562787.1_Intron	p.Q116Q	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	1	593	+		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	116			Gln-rich.		A4UCT5|A8K002|O94795	Silent	SNP	ENST00000303596.1	37	c.348A>G	CCDS10847.1																																																																																				0.682	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1	NM_020457		15	121	0	0	0	1	0	15	121				
RASGRF2	5924	broad.mit.edu	37	5	80508245	80508245	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr5:80508245G>A	ENST00000265080.4	+	23	3284	c.3217G>A	c.(3217-3219)Gcc>Acc	p.A1073T	CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1073	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CCGTGCCAACGCCATCGAGAA	0.537																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(3217-3219)Gcc>Acc		Ras protein-specific guanine nucleotide-releasing factor 2							60.0	54.0	56.0					5																	80508245		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80508245G>A	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.3217G>A	5.37:g.80508245G>A	ENSP00000265080:p.Ala1073Thr					CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000503483.2_RNA	p.A1073T	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	23	3284	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	1073			Ras-GEF.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.3217G>A	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886853	0.51908	.	.	ENSG00000113319	ENST00000265080	T	0.28255	1.62	5.84	3.9	0.45041	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.153474	0.64402	D	0.000011	T	0.20251	0.0487	L	0.31845	0.965	0.30924	N	0.727684	P	0.43542	0.81	B	0.37451	0.25	T	0.12967	-1.0527	10	0.39692	T	0.17	.	8.8213	0.35027	0.0831:0.0:0.6756:0.2413	.	1073	O14827	RGRF2_HUMAN	T	1073	ENSP00000265080:A1073T	ENSP00000265080:A1073T	A	+	1	0	RASGRF2	80544001	0.997000	0.39634	0.579000	0.28588	0.899000	0.52679	2.179000	0.42528	1.473000	0.48159	0.655000	0.94253	GCC		0.537	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		3	27	0	0	0	1	0	3	27				
LRIG3	121227	broad.mit.edu	37	12	59271288	59271288	+	Silent	SNP	G	G	A	rs375163124		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr12:59271288G>A	ENST00000320743.3	-	15	2716	c.2430C>T	c.(2428-2430)gtC>gtT	p.V810V	LRIG3_ENST00000379141.4_Silent_p.V750V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	810					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CTATGATCACGACACCCACAG	0.562			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2428-2430)gtC>gtT		leucine-rich repeats and immunoglobulin-like domains 3		A	,	1,4405	2.1+/-5.4	0,1,2202	212.0	121.0	152.0		2250,2430	-6.6	0.9	12		152	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LRIG3	NM_001136051.1,NM_153377.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	750/1060,810/1120	59271288	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59271288G>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2430C>T	12.37:g.59271288G>A						LRIG3_ENST00000379141.4_Silent_p.V750V	p.V810V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		15	2716	-			810					Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.2430C>T	CCDS8960.1																																																																																				0.562	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		17	55	0	0	0	1	0	17	55				
MEF2B	100271849	broad.mit.edu	37	19	19258545	19258545	+	Missense_Mutation	SNP	C	C	T	rs368616462		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr19:19258545C>T	ENST00000602424.2	-	6	1081	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	MEF2B_ENST00000424583.2_Missense_Mutation_p.E119K|MEF2B_ENST00000162023.5_Missense_Mutation_p.E119K|MEF2B_ENST00000409447.2_Missense_Mutation_p.E119K|MEF2B_ENST00000410050.1_Missense_Mutation_p.E119K|MEF2B_ENST00000409224.1_Missense_Mutation_p.E122K|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.E136K|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.E119K|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B	119					muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			TCACCCCCTTCGCCTGCCAGC	0.622																																						ENST00000602424.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(355-357)Gaa>Aaa		myocyte enhancer factor 2B		C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	63.0	64.0	64.0		355,355	5.2	0.8	19		64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MEF2BNB-MEF2B,MEF2B	NM_001145785.1,NM_005919.3	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	119/369,119/366	19258545	1,13005	2203	4300	6503	SO:0001583	missense	100271849							g.chr19:19258545C>T	X63380	CCDS12394.1, CCDS46024.1	19p13.11	2010-05-12	2007-04-24					"""Myocyte enhancer factors"""	6995	protein-coding gene	gene with protein product		600661				1516833, 8575763	Standard	NM_001145785		Approved	RSRFR2	uc002nll.2	Q02080		ENST00000602424.2:c.355G>A	19.37:g.19258545C>T	ENSP00000473308:p.Glu119Lys					MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.E136K|MEF2B_ENST00000162023.5_Missense_Mutation_p.E119K|MEF2B_ENST00000409447.2_Missense_Mutation_p.E119K|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.E119K|MEF2B_ENST00000424583.2_Missense_Mutation_p.E119K|MEF2B_ENST00000409224.1_Missense_Mutation_p.E122K|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000410050.1_Missense_Mutation_p.E119K	p.E119K	NM_005919.3	NP_005910.1			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)		6	1081	-								A0AV80|B4DVH7|B7ZVY1|G5E9M1	Missense_Mutation	SNP	ENST00000602424.2	37	c.355G>A	CCDS12394.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038894	0.75617	0.0	1.16E-4	ENSG00000213999	ENST00000409224;ENST00000424583;ENST00000410050;ENST00000444486;ENST00000409447;ENST00000162023	D;D;D;D;D	0.87571	-2.15;-2.2;-2.27;-2.2;-2.2	5.15	5.15	0.70609	.	0.406771	0.22640	N	0.057474	T	0.75561	0.3866	N	0.19112	0.55	0.42183	D	0.991691	D;P;B;P;P	0.54772	0.968;0.688;0.082;0.683;0.555	B;B;B;B;B	0.34242	0.178;0.04;0.012;0.057;0.026	T	0.81024	-0.1120	10	0.62326	D	0.03	-2.8896	14.1065	0.65093	0.0:1.0:0.0:0.0	.	119;166;119;119;122	Q02080;B8ZZJ5;C9J4J4;G5E9M1;B3KQ23	MEF2B_HUMAN;.;.;.;.	K	122;119;119;119;166;119	ENSP00000386480:E122K;ENSP00000402154:E119K;ENSP00000386374:E119K;ENSP00000390762:E119K;ENSP00000162023:E119K	ENSP00000162023:E119K	E	-	1	0	MEF2B	19119545	0.997000	0.39634	0.815000	0.32552	0.992000	0.81027	5.497000	0.66924	2.401000	0.81631	0.561000	0.74099	GAA		0.622	MEF2B-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_005919		26	94	0	0	0	1	0	26	94				
CCT6B	10693	broad.mit.edu	37	17	33281470	33281470	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr17:33281470G>T	ENST00000314144.5	-	4	600	c.485C>A	c.(484-486)gCt>gAt	p.A162D	CCT6B_ENST00000421975.3_Missense_Mutation_p.A162D|CCT6B_ENST00000436961.3_Missense_Mutation_p.A117D	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	162					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				AGCCAGTTCAGCATGAACTTT	0.323																																						ENST00000314144.5																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20						c.(484-486)gCt>gAt		chaperonin containing TCP1, subunit 6B (zeta 2)							152.0	136.0	141.0					17																	33281470		2202	4299	6501	SO:0001583	missense	10693				chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding	g.chr17:33281470G>T	D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"""Heat Shock Proteins / Chaperonins"""	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.485C>A	17.37:g.33281470G>T	ENSP00000327191:p.Ala162Asp					CCT6B_ENST00000421975.3_Missense_Mutation_p.A162D|CCT6B_ENST00000436961.3_Missense_Mutation_p.A117D	p.A162D	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN			4	600	-		Ovarian(249;0.17)	162					B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	ENST00000314144.5	37	c.485C>A	CCDS32617.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.288069	0.23478	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	T;T;T	0.21543	2.0;2.0;2.0	5.15	4.18	0.49190	.	0.417116	0.30020	N	0.010609	T	0.22282	0.0537	L	0.56396	1.775	0.33235	D	0.556405	B;B;B	0.15473	0.003;0.006;0.013	B;B;B	0.19666	0.02;0.02;0.026	T	0.18366	-1.0339	10	0.34782	T	0.22	-3.3076	11.7901	0.52065	0.0857:0.0:0.9143:0.0	.	117;162;162	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	D	162;162;117	ENSP00000398044:A162D;ENSP00000327191:A162D;ENSP00000400917:A117D	ENSP00000327191:A162D	A	-	2	0	CCT6B	30305583	0.999000	0.42202	1.000000	0.80357	0.605000	0.37080	3.332000	0.52083	1.543000	0.49345	-0.145000	0.13849	GCT		0.323	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448014.1	NM_006584		5	27	1	0	3.59834e-05	1	3.6749e-05	5	27				
TAF1L	138474	broad.mit.edu	37	9	32634014	32634014	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr9:32634014C>G	ENST00000242310.4	-	1	1653	c.1564G>C	c.(1564-1566)Gat>Cat	p.D522H	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	522					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCATTGGGATCAAGTGCCAAA	0.488																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(1564-1566)Gat>Cat		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							135.0	129.0	131.0					9																	32634014		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32634014C>G	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1564G>C	9.37:g.32634014C>G	ENSP00000418379:p.Asp522His					RP11-555J4.4_ENST00000430787.1_RNA	p.D522H	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1653	-			522					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.1564G>C	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689365	0.48097	.	.	ENSG00000122728	ENST00000242310	T	0.15487	2.42	0.479	0.479	0.16796	.	0.105802	0.64402	D	0.000004	T	0.30727	0.0774	M	0.64997	1.995	0.47737	D	0.999503	D	0.89917	1.0	D	0.71184	0.972	T	0.04360	-1.0957	10	0.87932	D	0	.	6.6915	0.23174	0.0:0.9998:0.0:2.0E-4	.	522	Q8IZX4	TAF1L_HUMAN	H	522	ENSP00000418379:D522H	ENSP00000418379:D522H	D	-	1	0	TAF1L	32624014	0.945000	0.32115	0.996000	0.52242	0.660000	0.38997	1.730000	0.38125	0.507000	0.28148	0.195000	0.17529	GAT		0.488	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			18	197	0	0	0	1	0	18	197				
MEPE	56955	broad.mit.edu	37	4	88766758	88766758	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr4:88766758G>C	ENST00000424957.3	+	4	811	c.738G>C	c.(736-738)gaG>gaC	p.E246D	MEPE_ENST00000560249.1_Missense_Mutation_p.E133D|MEPE_ENST00000540395.1_Missense_Mutation_p.E133D|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.E246D|MEPE_ENST00000497649.2_Missense_Mutation_p.E222D|MEPE_ENST00000395102.4_Missense_Mutation_p.E277D	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	246					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ATCTTCAAGAGAGAGGGGACA	0.433																																						ENST00000497649.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(664-666)gaG>gaC		matrix extracellular phosphoglycoprotein							72.0	73.0	72.0					4																	88766758		2203	4300	6503	SO:0001583	missense	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88766758G>C	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.738G>C	4.37:g.88766758G>C	ENSP00000416984:p.Glu246Asp					MEPE_ENST00000395102.4_Missense_Mutation_p.E277D|MEPE_ENST00000424957.3_Missense_Mutation_p.E246D|MEPE_ENST00000540395.1_Missense_Mutation_p.E133D|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000560249.1_Missense_Mutation_p.E133D|MEPE_ENST00000361056.3_Missense_Mutation_p.E246D	p.E222D			Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	6	1044	+		Hepatocellular(203;0.114)	246					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	c.666G>C	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	G	7.615	0.675515	0.14841	.	.	ENSG00000152595	ENST00000535138;ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.49432	0.79;0.79;0.78;0.8;0.79	4.7	-0.22	0.13130	.	1.024980	0.07772	N	0.952001	T	0.51719	0.1691	M	0.67397	2.05	0.09310	N	1	D	0.53151	0.958	P	0.54815	0.761	T	0.43015	-0.9417	10	0.19147	T	0.46	-0.79	4.0073	0.09607	0.3494:0.0:0.4936:0.157	.	246	Q9NQ76	MEPE_HUMAN	D	246;246;277;222;133;246	ENSP00000416984:E246D;ENSP00000378534:E277D;ENSP00000422747:E222D;ENSP00000443491:E133D;ENSP00000354341:E246D	ENSP00000354341:E246D	E	+	3	2	MEPE	88985782	0.000000	0.05858	0.000000	0.03702	0.288000	0.27193	-0.957000	0.03861	0.002000	0.14630	-0.258000	0.10820	GAG		0.433	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			14	71	0	0	0	1	0	14	71				
DHX32	55760	broad.mit.edu	37	10	127541142	127541142	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr10:127541142G>A	ENST00000284690.3	-	5	1652	c.1162C>T	c.(1162-1164)Cgc>Tgc	p.R388C	DHX32_ENST00000368721.1_Missense_Mutation_p.R12C|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.R307C	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	388						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATCTGCTTGCGTATCTCTGCC	0.453																																						ENST00000284690.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29						c.(1162-1164)Cgc>Tgc		DEAH (Asp-Glu-Ala-His) box polypeptide 32							144.0	131.0	135.0					10																	127541142		2203	4300	6503	SO:0001583	missense	55760					mitochondrion|nucleus	ATP binding|helicase activity	g.chr10:127541142G>A		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1162C>T	10.37:g.127541142G>A	ENSP00000284690:p.Arg388Cys					DHX32_ENST00000368721.1_Missense_Mutation_p.R12C|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.R307C	p.R388C	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN			5	1652	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	388					A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	ENST00000284690.3	37	c.1162C>T	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668340	0.88348	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.03580	3.88;3.88;3.88	5.71	5.71	0.89125	.	0.056439	0.64402	D	0.000002	T	0.32436	0.0829	H	0.97491	4.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.92	T	0.51772	-0.8663	10	0.87932	D	0	-29.8285	17.0332	0.86467	0.0:0.0:1.0:0.0	.	307;388	Q7L7V1-2;Q7L7V1	.;DHX32_HUMAN	C	12;388;307	ENSP00000357710:R12C;ENSP00000284690:R388C;ENSP00000284688:R307C	ENSP00000284688:R307C	R	-	1	0	DHX32	127531132	1.000000	0.71417	0.950000	0.38849	0.658000	0.38924	6.929000	0.75852	2.686000	0.91538	0.650000	0.86243	CGC		0.453	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180		7	79	0	0	0	1	0	7	79				
PRKX	5613	broad.mit.edu	37	X	3573222	3573222	+	Silent	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chrX:3573222C>T	ENST00000262848.5	-	3	921	c.567G>A	c.(565-567)acG>acA	p.T189T	PRKX_ENST00000425240.1_5'UTR	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial tube morphogenesis (GO:0060562)|kidney morphogenesis (GO:0060993)|myeloid cell differentiation (GO:0030099)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				ACCCAAAGTCCGTGAGCTTAA	0.507																																						ENST00000262848.5																			0				kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12						c.(565-567)acG>acA		protein kinase, X-linked							151.0	125.0	134.0					X																	3573222		2203	4300	6503	SO:0001819	synonymous_variant	5613						ATP binding|cAMP-dependent protein kinase activity	g.chrX:3573222C>T		CCDS14125.1	Xp22.3	2008-08-01			ENSG00000183943	ENSG00000183943	2.7.11.1		9441	protein-coding gene	gene with protein product		300083				7633447	Standard	NM_005044		Approved	PKX1	uc010nde.3	P51817	OTTHUMG00000021087	ENST00000262848.5:c.567G>A	X.37:g.3573222C>T						PRKX_ENST00000425240.1_5'UTR	p.T189T	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN			3	921	-		all_lung(23;0.000396)|Lung NSC(23;0.00123)	189			Protein kinase.			Silent	SNP	ENST00000262848.5	37	c.567G>A	CCDS14125.1																																																																																				0.507	PRKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055659.1	NM_005044		21	38	0	0	0	1	0	21	38				
SLC27A6	28965	broad.mit.edu	37	5	128324295	128324295	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr5:128324295C>G	ENST00000262462.4	+	3	1698	c.688C>G	c.(688-690)Cta>Gta	p.L230V	SLC27A6_ENST00000395266.1_Missense_Mutation_p.L230V|SLC27A6_ENST00000506176.1_Missense_Mutation_p.L230V			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	230					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TCTTCCAGGTCTACCAAAAGC	0.363																																						ENST00000262462.4																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(688-690)Cta>Gta		solute carrier family 27 (fatty acid transporter), member 6							139.0	142.0	141.0					5																	128324295		2203	4300	6503	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128324295C>G	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.688C>G	5.37:g.128324295C>G	ENSP00000262462:p.Leu230Val					SLC27A6_ENST00000395266.1_Missense_Mutation_p.L230V|SLC27A6_ENST00000506176.1_Missense_Mutation_p.L230V	p.L230V			Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	3	1698	+		all_cancers(142;0.0483)|Prostate(80;0.055)	230					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.688C>G	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864596	0.51482	.	.	ENSG00000113396	ENST00000508645;ENST00000262462;ENST00000395266;ENST00000506176	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.18	1.49	0.22878	AMP-dependent synthetase/ligase (1);AMP-binding, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.70622	0.3245	H	0.96048	3.76	0.54753	D	0.99998	D	0.76494	0.999	D	0.78314	0.991	T	0.74191	-0.3745	9	.	.	.	-6.6084	9.2917	0.37791	0.0:0.6944:0.0:0.3056	.	230	Q9Y2P4	S27A6_HUMAN	V	49;230;230;230	ENSP00000421759:L49V;ENSP00000262462:L230V;ENSP00000378684:L230V;ENSP00000421024:L230V	.	L	+	1	2	SLC27A6	128352194	0.987000	0.35691	1.000000	0.80357	0.924000	0.55760	0.621000	0.24418	0.336000	0.23639	-0.137000	0.14449	CTA		0.363	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		13	76	0	0	0	1	0	13	76				
EML4	27436	broad.mit.edu	37	2	42553383	42553383	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr2:42553383C>G	ENST00000318522.5	+	21	2594	c.2332C>G	c.(2332-2334)Caa>Gaa	p.Q778E	EML4_ENST00000402711.2_Missense_Mutation_p.Q720E|EML4_ENST00000453191.2_Missense_Mutation_p.Q42E|EML4_ENST00000401738.3_Missense_Mutation_p.Q789E	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	778					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GCTAGGATTTCAAGTATTTGG	0.323			T	ALK	NSCLC																																	ENST00000318522.5				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(543)	0				NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2332-2334)Caa>Gaa		echinoderm microtubule associated protein like 4							131.0	125.0	127.0					2																	42553383		2203	4300	6503	SO:0001583	missense	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42553383C>G	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.2332C>G	2.37:g.42553383C>G	ENSP00000320663:p.Gln778Glu					EML4_ENST00000402711.2_Missense_Mutation_p.Q720E|EML4_ENST00000453191.2_Missense_Mutation_p.Q42E|EML4_ENST00000401738.3_Missense_Mutation_p.Q789E	p.Q778E	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN			21	2594	+			778					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	c.2332C>G	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.052543	0.36181	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738;ENST00000453191	T;T;T;T	0.40476	2.31;1.28;2.31;1.03	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.236189	0.51477	D	0.000089	T	0.20129	0.0484	N	0.02315	-0.6	0.58432	D	0.999999	B;B;B;B	0.22276	0.067;0.0;0.003;0.067	B;B;B;B	0.24006	0.05;0.002;0.008;0.05	T	0.19095	-1.0316	10	0.02654	T	1	-3.6812	19.5755	0.95441	0.0:1.0:0.0:0.0	.	720;720;789;778	A6H8Y6;B5MCW9;B5MBZ0;Q9HC35	.;.;.;EMAL4_HUMAN	E	778;720;789;42	ENSP00000320663:Q778E;ENSP00000385059:Q720E;ENSP00000384939:Q789E;ENSP00000400590:Q42E	ENSP00000320663:Q778E	Q	+	1	0	EML4	42406887	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.554000	0.82212	2.865000	0.98341	0.655000	0.94253	CAA		0.323	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		13	88	0	0	0	1	0	13	88				
PRKG1	5592	broad.mit.edu	37	10	52913070	52913070	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr10:52913070C>T	ENST00000401604.2	+	2	607	c.413C>T	c.(412-414)tCa>tTa	p.S138L	PRKG1_ENST00000373980.4_Missense_Mutation_p.S153L|PRKG1_ENST00000373985.1_Missense_Mutation_p.S126L			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	138	cGMP-binding, high affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GACGTGGGGTCACTGGTGTAT	0.448																																						ENST00000373980.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53						c.(457-459)tCa>tTa		protein kinase, cGMP-dependent, type I							175.0	160.0	165.0					10																	52913070		2203	4299	6502	SO:0001583	missense	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:52913070C>T		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.413C>T	10.37:g.52913070C>T	ENSP00000384200:p.Ser138Leu					PRKG1_ENST00000373985.1_Missense_Mutation_p.S126L|PRKG1_ENST00000401604.2_Missense_Mutation_p.S138L	p.S153L	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	2	875	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	138					A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	c.458C>T	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015037	0.75161	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000373976	D;D;D;D	0.96856	-4.15;-4.15;-1.91;-1.91	5.48	5.48	0.80851	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.64402	D	0.000002	D	0.97250	0.9101	M	0.80508	2.5	0.80722	D	1	P;P;P	0.46656	0.882;0.503;0.559	P;B;B	0.51079	0.658;0.151;0.234	D	0.97807	1.0248	10	0.87932	D	0	-6.2599	17.1989	0.86901	0.0:1.0:0.0:0.0	.	138;153;138	B4DT93;Q13976-2;Q13976	.;.;KGP1_HUMAN	L	138;126;153;11	ENSP00000384200:S138L;ENSP00000363097:S126L;ENSP00000363092:S153L;ENSP00000363087:S11L	ENSP00000363087:S11L	S	+	2	0	PRKG1	52583076	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.252000	0.78309	2.713000	0.92767	0.655000	0.94253	TCA		0.448	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				11	51	0	0	0	1	0	11	51				
DYNC1H1	1778	broad.mit.edu	37	14	102461416	102461416	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr14:102461416C>T	ENST00000360184.4	+	14	3591	c.3427C>T	c.(3427-3429)Cat>Tat	p.H1143Y		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1143	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GACGGAATTCCATTCCCAGAT	0.458																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(3427-3429)Cat>Tat		dynein, cytoplasmic 1, heavy chain 1							111.0	101.0	105.0					14																	102461416		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102461416C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.3427C>T	14.37:g.102461416C>T	ENSP00000348965:p.His1143Tyr						p.H1143Y	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			14	3591	+			1143			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.3427C>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032352	0.35893	.	.	ENSG00000197102	ENST00000360184	T	0.57436	0.4	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.38719	0.1051	N	0.20881	0.62	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36456	-0.9747	10	0.02654	T	1	.	20.1346	0.98019	0.0:1.0:0.0:0.0	.	1143	Q14204	DYHC1_HUMAN	Y	1143	ENSP00000348965:H1143Y	ENSP00000348965:H1143Y	H	+	1	0	DYNC1H1	101531169	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.811000	0.86092	2.763000	0.94921	0.557000	0.71058	CAT		0.458	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		9	100	0	0	0	1	0	9	100				
NOTCH3	4854	broad.mit.edu	37	19	15281581	15281581	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr19:15281581C>G	ENST00000263388.2	-	26	4867	c.4792G>C	c.(4792-4794)Gat>Cat	p.D1598H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1598					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AAGCAGTGATCATTCTCAGGC	0.632																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(4792-4794)Gat>Cat		notch 3							33.0	30.0	31.0					19																	15281581		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15281581C>G	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.4792G>C	19.37:g.15281581C>G	ENSP00000263388:p.Asp1598His						p.D1598H	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		26	4867	-			1598					Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.4792G>C	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123231	0.56613	.	.	ENSG00000074181	ENST00000263388	T	0.33216	1.42	3.78	1.48	0.22813	Notch, NODP domain (1);	.	.	.	.	T	0.45094	0.1325	L	0.60455	1.87	0.29058	N	0.884112	D	0.64830	0.994	D	0.67382	0.951	T	0.30119	-0.9989	9	0.66056	D	0.02	.	7.0644	0.25143	0.0:0.739:0.0:0.261	.	1598	Q9UM47	NOTC3_HUMAN	H	1598	ENSP00000263388:D1598H	ENSP00000263388:D1598H	D	-	1	0	NOTCH3	15142581	0.645000	0.27286	0.965000	0.40720	0.815000	0.46073	1.276000	0.33156	0.816000	0.34421	0.485000	0.47835	GAT		0.632	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		6	26	0	0	0	1	0	6	26				
ROCK2	9475	broad.mit.edu	37	2	11341164	11341164	+	Silent	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr2:11341164C>T	ENST00000315872.6	-	23	3277	c.2829G>A	c.(2827-2829)aaG>aaA	p.K943K	ROCK2_ENST00000401753.1_Silent_p.K700K	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	943					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CTTTCATGATCTTCTCTTTTT	0.413																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(2827-2829)aaG>aaA		Rho-associated, coiled-coil containing protein kinase 2							212.0	191.0	198.0					2																	11341164		1864	4100	5964	SO:0001819	synonymous_variant	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11341164C>T	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.2829G>A	2.37:g.11341164C>T						ROCK2_ENST00000401753.1_Silent_p.K700K	p.K943K	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	23	3277	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		943					Q53QZ0|Q53SJ7|Q9UQN5	Silent	SNP	ENST00000315872.6	37	c.2829G>A	CCDS42654.1																																																																																				0.413	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			45	95	0	0	0	1	0	45	95				
PRDM16	63976	broad.mit.edu	37	1	3335245	3335245	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:3335245T>G	ENST00000270722.5	+	12	2925	c.2876T>G	c.(2875-2877)aTc>aGc	p.I959S	PRDM16_ENST00000441472.2_Missense_Mutation_p.I958S|PRDM16_ENST00000442529.2_Missense_Mutation_p.I958S|PRDM16_ENST00000511072.1_Missense_Mutation_p.I960S|PRDM16_ENST00000514189.1_Missense_Mutation_p.I959S|PRDM16_ENST00000378391.2_Missense_Mutation_p.I959S|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378398.3_Missense_Mutation_p.I959S			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	959	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TGTGGGAAGATCTTCCCCAGA	0.607			T	EVI1	"""MDS, AML"""																																	ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"""MDS, AML"""		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(2875-2877)aTc>aGc		PR domain containing 16							57.0	65.0	62.0					1																	3335245		2091	4218	6309	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3335245T>G	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.2876T>G	1.37:g.3335245T>G	ENSP00000270722:p.Ile959Ser					PRDM16_ENST00000442529.2_Missense_Mutation_p.I958S|PRDM16_ENST00000378391.2_Missense_Mutation_p.I959S|PRDM16_ENST00000441472.2_Missense_Mutation_p.I958S|PRDM16_ENST00000514189.1_Missense_Mutation_p.I959S|PRDM16_ENST00000511072.1_Missense_Mutation_p.I960S|PRDM16_ENST00000270722.5_Missense_Mutation_p.I959S|PRDM16_ENST00000512462.1_3'UTR	p.I959S			Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	13	2958	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	959			Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.2876T>G	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	T	18.58	3.655285	0.67472	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28;0.28;0.28;0.28;0.28	4.44	3.3	0.37823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.114764	0.36591	N	0.002513	T	0.51363	0.1670	M	0.68593	2.085	0.58432	D	0.999992	P;B;B;B	0.42456	0.78;0.082;0.038;0.138	B;B;B;B	0.37508	0.252;0.037;0.047;0.065	T	0.51004	-0.8760	10	0.46703	T	0.11	.	9.5784	0.39472	0.0:0.0858:0.0:0.9141	.	959;959;958;958	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	S	960;959;958;958;959;959;959;775;775;767	ENSP00000426975:I960S;ENSP00000367651:I959S;ENSP00000407968:I958S;ENSP00000405253:I958S;ENSP00000367643:I959S;ENSP00000421400:I959S;ENSP00000270722:I959S;ENSP00000422504:I775S;ENSP00000425796:I767S	ENSP00000270722:I959S	I	+	2	0	PRDM16	3325105	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.919000	0.87513	0.679000	0.31345	0.533000	0.62120	ATC		0.607	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		11	54	0	0	0	1	0	11	54				
HTR6	3362	broad.mit.edu	37	1	20005587	20005587	+	Missense_Mutation	SNP	C	C	T	rs201409930		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:20005587C>T	ENST00000289753.1	+	3	1516	c.1049C>T	c.(1048-1050)tCg>tTg	p.S350L		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	350					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	AGCCTGGCCTCGCCATCACTG	0.687																																					Esophageal Squamous(168;1879 2619 6848 21062)	ENST00000289753.1																			0				endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1048-1050)tCg>tTg		5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						29.0	34.0	32.0					1																	20005587		2201	4296	6497	SO:0001583	missense	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:20005587C>T	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.1049C>T	1.37:g.20005587C>T	ENSP00000289753:p.Ser350Leu						p.S350L	NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	3	1516	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	350					Q13640|Q5TGZ1	Missense_Mutation	SNP	ENST00000289753.1	37	c.1049C>T	CCDS197.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.764533	0.49574	.	.	ENSG00000158748	ENST00000289753	T	0.38722	1.12	5.39	5.39	0.77823	.	0.000000	0.40554	N	0.001067	T	0.53206	0.1782	L	0.29908	0.895	0.37945	D	0.932449	D	0.89917	1.0	D	0.80764	0.994	T	0.51841	-0.8654	9	.	.	.	.	18.0883	0.89464	0.0:1.0:0.0:0.0	.	350	P50406	5HT6R_HUMAN	L	350	ENSP00000289753:S350L	.	S	+	2	0	HTR6	19878174	1.000000	0.71417	0.972000	0.41901	0.071000	0.16799	4.653000	0.61462	2.698000	0.92095	0.561000	0.74099	TCG		0.687	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		18	64	0	0	0	1	0	18	64				
CYP7B1	9420	broad.mit.edu	37	8	65509365	65509365	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr8:65509365C>T	ENST00000310193.3	-	6	1528	c.1355G>A	c.(1354-1356)cGa>cAa	p.R452Q	CYP7B1_ENST00000523954.1_Intron	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	452					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TGCAAAAAATCGGCCTGGACA	0.343																																						ENST00000310193.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1354-1356)cGa>cAa		cytochrome P450, family 7, subfamily B, polypeptide 1							60.0	61.0	61.0					8																	65509365		2203	4299	6502	SO:0001583	missense	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65509365C>T	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.1355G>A	8.37:g.65509365C>T	ENSP00000310721:p.Arg452Gln					CYP7B1_ENST00000523954.1_Intron	p.R452Q	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN			6	1528	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	452					B2RN07|Q9UNF5	Missense_Mutation	SNP	ENST00000310193.3	37	c.1355G>A	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	C	34	5.404664	0.96051	.	.	ENSG00000172817	ENST00000310193	T	0.69175	-0.38	5.55	5.55	0.83447	.	0.060533	0.64402	D	0.000004	T	0.76877	0.4049	L	0.38733	1.17	0.53005	D	0.999962	D	0.89917	1.0	D	0.97110	1.0	T	0.78743	-0.2085	10	0.87932	D	0	-12.7965	19.5081	0.95127	0.0:1.0:0.0:0.0	.	452	O75881	CP7B1_HUMAN	Q	452	ENSP00000310721:R452Q	ENSP00000310721:R452Q	R	-	2	0	CYP7B1	65671919	1.000000	0.71417	0.981000	0.43875	0.853000	0.48598	7.818000	0.86416	2.601000	0.87937	0.563000	0.77884	CGA		0.343	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			6	49	0	0	0	1	0	6	49				
ARSB	411	broad.mit.edu	37	5	78181427	78181427	+	Silent	SNP	G	G	A	rs149886659		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr5:78181427G>A	ENST00000264914.4	-	5	1658	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F	ARSB_ENST00000521800.1_5'UTR|ARSB_ENST00000565165.1_Silent_p.F374F|ARSB_ENST00000396151.3_Silent_p.F374F	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	374					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		TCCACACGTCGAAGCCATCCA	0.542																																					Melanoma(169;563 1968 25780 26156 52266)	ENST00000264914.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1120-1122)ttC>ttT		arylsulfatase B		G	,	0,4406		0,0,2203	123.0	111.0	115.0		1122,1122	1.1	1.0	5	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ARSB	NM_000046.3,NM_198709.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	374/534,374/414	78181427	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	411				lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78181427G>A	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.1122C>T	5.37:g.78181427G>A						ARSB_ENST00000521800.1_5'UTR|ARSB_ENST00000396151.3_Silent_p.F374F|ARSB_ENST00000565165.1_Silent_p.F374F	p.F374F	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	5	1658	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	374					B2RC20|Q8N322|Q9UDI9	Silent	SNP	ENST00000264914.4	37	c.1122C>T	CCDS4043.1																																																																																				0.542	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		19	69	0	0	0	1	0	19	69				
PRMT3	10196	broad.mit.edu	37	11	20486034	20486034	+	Nonsense_Mutation	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr11:20486034C>G	ENST00000331079.6	+	13	1506	c.1289C>G	c.(1288-1290)tCa>tGa	p.S430*	PRMT3_ENST00000437750.2_Nonsense_Mutation_p.S368*	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	430	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						ACGTCTATCTCAGATTTGGAA	0.323																																						ENST00000331079.6																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						c.(1288-1290)tCa>tGa		protein arginine methyltransferase 3							110.0	109.0	110.0					11																	20486034		2203	4300	6503	SO:0001587	stop_gained	10196						zinc ion binding	g.chr11:20486034C>G	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"""Protein arginine methyltransferases"""	30163	protein-coding gene	gene with protein product		603190	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"""	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.1289C>G	11.37:g.20486034C>G	ENSP00000331879:p.Ser430*					PRMT3_ENST00000437750.2_Nonsense_Mutation_p.S368*	p.S430*	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN			13	1506	+			430					B4DUC7	Nonsense_Mutation	SNP	ENST00000331079.6	37	c.1289C>G	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.865074	0.51482	.	.	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	.	.	.	5.98	4.02	0.46733	.	0.582472	0.19448	N	0.114004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-2.0515	7.9251	0.29870	0.1144:0.689:0.1236:0.0729	.	.	.	.	X	430;430;368	.	ENSP00000331879:S430X	S	+	2	0	PRMT3	20442610	0.718000	0.27976	0.965000	0.40720	0.051000	0.14879	1.154000	0.31688	1.551000	0.49450	-0.194000	0.12790	TCA		0.323	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		7	31	0	0	0	1	0	7	31				
ANKRD19P	138649	broad.mit.edu	37	9	95599598	95599598	+	RNA	SNP	T	T	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr9:95599598T>C	ENST00000473204.1	+	0	1679							Q9H560	ANR19_HUMAN	ankyrin repeat domain 19, pseudogene							extracellular vesicular exosome (GO:0070062)											GCCAGGCGAGTTCTTCTCCAG	0.622																																						ENST00000473204.1																			0																																																			138649							g.chr9:95599598T>C	BC038951		9q22.32	2011-04-27	2011-04-27	2011-04-27	ENSG00000187984	ENSG00000187984			22567	pseudogene	pseudogene			"""ankyrin repeat domain 19"", ""ankyrin repeat domain 19 pseudogene"""	ANKRD19			Standard	NR_026868		Approved	FLJ36178	uc011lua.1	Q9H560	OTTHUMG00000020237		9.37:g.95599598T>C														0	1679	+								A8K853|Q17RD3	RNA	SNP	ENST00000473204.1	37																																																																																						0.622	ANKRD19P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000053116.3	NR_026868		6	69	0	0	0	1	0	6	69				
GPR174	84636	broad.mit.edu	37	X	78427418	78427418	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chrX:78427418G>A	ENST00000276077.1	+	1	950	c.914G>A	c.(913-915)aGa>aAa	p.R305K		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CGGCTTTCAAGACAAGATTTG	0.393										HNSCC(63;0.18)																												ENST00000276077.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						c.(913-915)aGa>aAa		G protein-coupled receptor 174							110.0	94.0	99.0					X																	78427418		2203	4300	6503	SO:0001583	missense	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78427418G>A	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.914G>A	X.37:g.78427418G>A	ENSP00000276077:p.Arg305Lys	HNSCC(63;0.18)					p.R305K	NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN			1	950	+			305					Q2M3F7	Missense_Mutation	SNP	ENST00000276077.1	37	c.914G>A	CCDS14443.1	.	.	.	.	.	.	.	.	.	.	g	10.54	1.379410	0.24944	.	.	ENSG00000147138	ENST00000276077	T	0.22539	1.95	5.25	5.25	0.73442	.	0.111218	0.64402	D	0.000017	T	0.12305	0.0299	N	0.08118	0	0.39804	D	0.972616	B	0.24963	0.115	B	0.27796	0.083	T	0.18023	-1.0350	10	0.14252	T	0.57	.	16.358	0.83243	0.0:0.0:1.0:0.0	.	305	Q9BXC1	GP174_HUMAN	K	305	ENSP00000276077:R305K	ENSP00000276077:R305K	R	+	2	0	GPR174	78314074	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	6.263000	0.72521	2.172000	0.68678	0.534000	0.68092	AGA		0.393	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		17	26	0	0	0	1	0	17	26				
DHCR24	1718	broad.mit.edu	37	1	55337057	55337057	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:55337057G>A	ENST00000371269.3	-	5	940	c.842C>T	c.(841-843)aCa>aTa	p.T281I	DHCR24_ENST00000535035.1_Missense_Mutation_p.T240I|DHCR24_ENST00000537443.1_Missense_Mutation_p.T113I	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	281					amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CATGACCCCTGTCATAATGAC	0.587																																					Pancreas(39;516 1021 24601 30715 32780)	ENST00000371269.3																			0				large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(841-843)aCa>aTa		24-dehydrocholesterol reductase							54.0	47.0	50.0					1																	55337057		2203	4300	6503	SO:0001583	missense	1718				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding	g.chr1:55337057G>A	AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.842C>T	1.37:g.55337057G>A	ENSP00000360316:p.Thr281Ile					DHCR24_ENST00000537443.1_Missense_Mutation_p.T113I|DHCR24_ENST00000535035.1_Missense_Mutation_p.T240I	p.T281I	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN			5	940	-			281					B7Z817|D3DQ51|Q9HBA8	Missense_Mutation	SNP	ENST00000371269.3	37	c.842C>T	CCDS600.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.748952	0.69533	.	.	ENSG00000116133	ENST00000371269;ENST00000537443;ENST00000535035	D;D;D	0.93426	-3.22;-2.15;-3.22	5.31	5.31	0.75309	.	0.096849	0.64402	D	0.000001	D	0.95953	0.8682	M	0.85197	2.74	0.80722	D	1	D;D;D	0.62365	0.984;0.991;0.982	P;P;P	0.56343	0.757;0.796;0.65	D	0.94251	0.7493	10	0.17369	T	0.5	-16.7503	19.369	0.94477	0.0:0.0:1.0:0.0	.	240;240;281	B7Z817;B7ZAV4;Q15392	.;.;DHC24_HUMAN	I	281;113;240	ENSP00000360316:T281I;ENSP00000439852:T113I;ENSP00000440191:T240I	ENSP00000360316:T281I	T	-	2	0	DHCR24	55109645	1.000000	0.71417	0.973000	0.42090	0.255000	0.26057	9.785000	0.99042	2.657000	0.90304	0.655000	0.94253	ACA		0.587	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1	NM_014762		11	55	0	0	0	1	0	11	55				
TP53	7157	broad.mit.edu	37	17	7576853	7576853	+	Splice_Site	SNP	C	C	A	rs11575996		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr17:7576853C>A	ENST00000269305.4	-	9	1182	c.993G>T	c.(991-993)caG>caT	p.Q331H	TP53_ENST00000455263.2_Splice_Site_p.Q331H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Splice_Site_p.Q331H|TP53_ENST00000359597.4_Splice_Site_p.Q331H|TP53_ENST00000420246.2_Splice_Site_p.Q331H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.Q331H(7)|p.Q331P(2)|p.Q331fs*6(1)|p.I332fs*49(1)|p.?(1)|p.Q331Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GACTTAGTACCTGAAGGGTGA	0.453		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		21	Substitution - Missense(9)|Whole gene deletion(8)|Insertion - Frameshift(2)|Unknown(1)|Substitution - coding silent(1)	p.0?(8)|p.Q331H(7)|p.Q331P(2)|p.Q331fs*6(1)|p.I332fs*49(1)|p.?(1)|p.Q331Q(1)	bone(4)|large_intestine(3)|lung(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|stomach(1)|urinary_tract(1)|liver(1)|skin(1)|breast(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e9+1	Other conserved DNA damage response genes	tumor protein p53							115.0	108.0	110.0					17																	7576853		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576853C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.993+1G>T	17.37:g.7576853C>A		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Splice_Site_p.Q331_splice|TP53_ENST00000445888.2_Splice_Site_p.Q331_splice|TP53_ENST00000269305.4_Splice_Site_p.Q331_splice|TP53_ENST00000359597.4_Splice_Site_p.Q331_splice|TP53_ENST00000413465.2_Intron	p.Q331_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1125	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	331		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	c.993_splice	CCDS11118.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.16|15.16	2.749999|2.749999	0.49257|0.49257	.|.	.|.	ENSG00000141510|ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690|ENST00000419024	D;D;D;D;D;D|.	0.99771|.	-5.93;-3.18;-5.92;-5.91;-3.18;-6.71|.	4.95|4.95	4.95|4.95	0.65309|0.65309	p53, tetramerisation domain (3);|.	0.253251|.	0.40469|.	N|.	0.001098|.	T|T	0.59662|0.59662	0.2210|0.2210	L|L	0.45352|0.45352	1.415|1.415	0.41463|0.41463	D|D	0.988058|0.988058	B;B;B;B|.	0.24963|.	0.112;0.013;0.026;0.115|.	B;B;B;B|.	0.32762|.	0.152;0.012;0.052;0.072|.	T|T	0.56414|0.56414	-0.7983|-0.7983	9|5	.|.	.|.	.|.	-17.7352|-17.7352	13.5611|13.5611	0.61790|0.61790	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	331;331;331;331|.	P04637-2;P04637-3;P04637;Q1MSW8|.	.;.;P53_HUMAN;.|.	H|I	331;331;331;331;331;320;199|18	ENSP00000352610:Q331H;ENSP00000269305:Q331H;ENSP00000398846:Q331H;ENSP00000391127:Q331H;ENSP00000391478:Q331H;ENSP00000425104:Q199H|.	.|.	Q|S	-|-	3|2	2|0	TP53|TP53	7517578|7517578	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.665000|0.665000	0.39181|0.39181	3.347000|3.347000	0.52200|0.52200	2.578000|2.578000	0.87016|0.87016	0.561000|0.561000	0.74099|0.74099	CAG|AGC		0.453	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Missense_Mutation	21	49	1	0	1.50039e-11	1	1.63679e-11	21	49				
CDCA4	55038	broad.mit.edu	37	14	105478001	105478001	+	Missense_Mutation	SNP	C	C	T	rs372232233		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr14:105478001C>T	ENST00000336219.3	-	2	421	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	CDCA4_ENST00000392590.3_Missense_Mutation_p.R89Q	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	89						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		GAGCGGCGCCCGCTCTGCAGC	0.672																																						ENST00000336219.3																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(265-267)cGg>cAg		cell division cycle associated 4		C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	45.0	37.0	40.0		266,266	-3.7	0.0	14		40	0,8598		0,0,4299	no	missense,missense	CDCA4	NM_017955.3,NM_145701.2	43,43	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	89/242,89/242	105478001	1,13003	2203	4299	6502	SO:0001583	missense	55038					nucleus		g.chr14:105478001C>T	BG354577	CCDS9996.1	14q32.33	2014-02-14			ENSG00000170779	ENSG00000170779			14625	protein-coding gene	gene with protein product	"""hematopoietic progenitor protein"""	612270				12188893	Standard	NM_145701		Approved	FLJ20764, Hepp	uc001yqb.2	Q9BXL8	OTTHUMG00000170767	ENST00000336219.3:c.266G>A	14.37:g.105478001C>T	ENSP00000337226:p.Arg89Gln					CDCA4_ENST00000392590.3_Missense_Mutation_p.R89Q	p.R89Q	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)	2	421	-		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	89					Q8TB18|Q9NWK7	Missense_Mutation	SNP	ENST00000336219.3	37	c.266G>A	CCDS9996.1	.	.	.	.	.	.	.	.	.	.	C	9.304	1.053772	0.19907	2.27E-4	0.0	ENSG00000170779	ENST00000336219;ENST00000392590	T;T	0.44482	0.92;0.92	4.65	-3.72	0.04411	.	0.324812	0.33005	N	0.005389	T	0.12347	0.0300	N	0.08118	0	0.09310	N	1	B	0.18166	0.026	B	0.04013	0.001	T	0.17258	-1.0375	10	0.10377	T	0.69	-3.1	0.8897	0.01252	0.178:0.1518:0.27:0.4002	.	89	Q9BXL8	CDCA4_HUMAN	Q	89	ENSP00000337226:R89Q;ENSP00000376369:R89Q	ENSP00000337226:R89Q	R	-	2	0	CDCA4	104549046	0.003000	0.15002	0.000000	0.03702	0.008000	0.06430	0.083000	0.14871	-0.457000	0.07033	-0.140000	0.14226	CGG		0.672	CDCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410311.1	NM_145701		15	49	0	0	0	1	0	15	49				
TMEM225	338661	broad.mit.edu	37	11	123754841	123754841	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr11:123754841T>C	ENST00000375026.2	-	3	620	c.404A>G	c.(403-405)tAt>tGt	p.Y135C		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	135					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GGTGATCCTATAATTAGAGAA	0.408																																						ENST00000375026.2																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						c.(403-405)tAt>tGt		transmembrane protein 225							126.0	120.0	122.0					11																	123754841		2202	4299	6501	SO:0001583	missense	338661					integral to membrane		g.chr11:123754841T>C	AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"""PMP22 claudin domain containing"", ""protein phosphatase 1, regulatory subunit 154"""						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.404A>G	11.37:g.123754841T>C	ENSP00000364166:p.Tyr135Cys						p.Y135C	NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN			3	620	-			135						Missense_Mutation	SNP	ENST00000375026.2	37	c.404A>G	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.326249	0.41197	.	.	ENSG00000204300	ENST00000375026;ENST00000528595	T;T	0.69306	-0.39;-0.39	4.84	-3.29	0.05017	.	0.596567	0.14095	N	0.341731	T	0.67822	0.2934	L	0.32530	0.975	0.09310	N	1	D	0.89917	1.0	D	0.74348	0.983	T	0.63056	-0.6722	10	0.87932	D	0	-6.5514	10.5008	0.44804	0.721:0.0:0.0:0.279	.	135	Q6GV28	TM225_HUMAN	C	135;85	ENSP00000364166:Y135C;ENSP00000431282:Y85C	ENSP00000364166:Y135C	Y	-	2	0	TMEM225	123260051	0.027000	0.19231	0.001000	0.08648	0.001000	0.01503	0.217000	0.17603	-0.311000	0.08754	-0.336000	0.08194	TAT		0.408	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743		4	47	0	0	0	1	0	4	47				
HCN4	10021	broad.mit.edu	37	15	73635971	73635971	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr15:73635971C>A	ENST00000261917.3	-	2	1957	c.964G>T	c.(964-966)Gac>Tac	p.D322Y	RP11-272D12.1_ENST00000558742.1_RNA|RP11-272D12.1_ENST00000557981.1_RNA	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	322					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TCTGTGTTGTCCTCCACCACG	0.493																																						ENST00000261917.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(964-966)Gac>Tac		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							100.0	82.0	88.0					15																	73635971		2198	4297	6495	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73635971C>A	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.964G>T	15.37:g.73635971C>A	ENSP00000261917:p.Asp322Tyr						p.D322Y	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	2	1957	-			322					Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.964G>T	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.895922	0.72639	.	.	ENSG00000138622	ENST00000261917	D	0.94417	-3.42	5.34	5.34	0.76211	Ion transport (1);	.	.	.	.	D	0.97583	0.9208	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98068	1.0397	9	0.87932	D	0	.	19.4036	0.94640	0.0:1.0:0.0:0.0	.	322	Q9Y3Q4	HCN4_HUMAN	Y	322	ENSP00000261917:D322Y	ENSP00000261917:D322Y	D	-	1	0	HCN4	71423024	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.671000	0.83941	2.657000	0.90304	0.655000	0.94253	GAC		0.493	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		23	25	1	0	7.41877e-09	1	7.91336e-09	23	25				
SNCA	6622	broad.mit.edu	37	4	90650392	90650392	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr4:90650392C>A	ENST00000394986.1	-	5	764	c.343G>T	c.(343-345)Gat>Tat	p.D115Y	SNCA_ENST00000345009.4_Intron|SNCA_ENST00000336904.3_Missense_Mutation_p.D115Y|SNCA_ENST00000420646.2_Intron|SNCA_ENST00000505199.1_Missense_Mutation_p.D101Y|SNCA_ENST00000394991.3_Missense_Mutation_p.D115Y|SNCA_ENST00000394989.2_Missense_Mutation_p.D101Y|SNCA_ENST00000506244.1_Missense_Mutation_p.D115Y|SNCA_ENST00000508895.1_Missense_Mutation_p.D115Y|RP11-115D19.1_ENST00000508021.1_RNA			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)	115					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adult locomotory behavior (GO:0008344)|aging (GO:0007568)|behavioral response to cocaine (GO:0048148)|cellular response to copper ion (GO:0071280)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to oxidative stress (GO:0034599)|dopamine biosynthetic process (GO:0042416)|dopamine uptake involved in synaptic transmission (GO:0051583)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|long-term synaptic potentiation (GO:0060291)|microglial cell activation (GO:0001774)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrial membrane organization (GO:0007006)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of dopamine uptake involved in synaptic transmission (GO:0051585)|negative regulation of exocytosis (GO:0045920)|negative regulation of histone acetylation (GO:0035067)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of monooxygenase activity (GO:0032769)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of norepinephrine uptake (GO:0051622)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of serotonin uptake (GO:0051612)|negative regulation of thrombin receptor signaling pathway (GO:0070495)|negative regulation of transporter activity (GO:0032410)|neutral lipid metabolic process (GO:0006638)|oxidation-reduction process (GO:0055114)|phospholipid metabolic process (GO:0006644)|positive regulation of endocytosis (GO:0045807)|positive regulation of glutathione peroxidase activity (GO:1903284)|positive regulation of hydrogen peroxide catabolic process (GO:1903285)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of receptor recycling (GO:0001921)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein destabilization (GO:0031648)|receptor internalization (GO:0031623)|regulation of acyl-CoA biosynthetic process (GO:0050812)|regulation of dopamine secretion (GO:0014059)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glutamate secretion (GO:0014048)|regulation of locomotion (GO:0040012)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of macrophage activation (GO:0043030)|regulation of neuron death (GO:1901214)|regulation of phospholipase activity (GO:0010517)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|response to iron(II) ion (GO:0010040)|response to lipopolysaccharide (GO:0032496)|response to magnesium ion (GO:0032026)|synapse organization (GO:0050808)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular region (GO:0005576)|fibril (GO:0043205)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nuclear outer membrane (GO:0005640)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribosome (GO:0005840)|rough endoplasmic reticulum (GO:0005791)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	alpha-tubulin binding (GO:0043014)|calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dynein binding (GO:0045502)|ferrous iron binding (GO:0008198)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|oxidoreductase activity (GO:0016491)|phospholipid binding (GO:0005543)|phosphoprotein binding (GO:0051219)|tau protein binding (GO:0048156)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)		ACAGGCATATCTTCCAGAATT	0.373																																						ENST00000394989.2																			0				kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(301-303)Gat>Tat		synuclein, alpha (non A4 component of amyloid precursor)	Melatonin(DB01065)						88.0	90.0	89.0					4																	90650392		2203	4300	6503	SO:0001583	missense	6622				activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis	actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse	alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding	g.chr4:90650392C>A	L08850	CCDS3634.1, CCDS43252.1	4q21.3-q22	2014-05-22			ENSG00000145335	ENSG00000145335		"""Parkinson disease"""	11138	protein-coding gene	gene with protein product		163890	"""Parkinson disease (autosomal dominant, Lewy body) 4"""	PARK1, PARK4		8248242, 14593171	Standard	NM_000345		Approved	NACP, PD1, alpha-synuclein	uc003hsr.3	P37840	OTTHUMG00000130948	ENST00000394986.1:c.343G>T	4.37:g.90650392C>A	ENSP00000378437:p.Asp115Tyr					SNCA_ENST00000394986.1_Missense_Mutation_p.D115Y|SNCA_ENST00000345009.4_Intron|SNCA_ENST00000394991.3_Missense_Mutation_p.D115Y|SNCA_ENST00000506244.1_Missense_Mutation_p.D115Y|SNCA_ENST00000420646.2_Intron|SNCA_ENST00000336904.3_Missense_Mutation_p.D115Y|SNCA_ENST00000508895.1_Missense_Mutation_p.D115Y|SNCA_ENST00000505199.1_Missense_Mutation_p.D101Y	p.D101Y			P37840	SYUA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)	4	563	-		Hepatocellular(203;0.114)	115					A8K2A4|Q13701|Q4JHI3|Q6IAU6	Missense_Mutation	SNP	ENST00000394986.1	37	c.301G>T	CCDS3634.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475515	0.26511	.	.	ENSG00000145335	ENST00000394989;ENST00000394986;ENST00000394991;ENST00000336904;ENST00000508895;ENST00000506244;ENST00000505199	D;D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	4.11	3.15	0.36227	.	0.275261	0.29876	N	0.010979	T	0.69196	0.3084	N	0.08118	0	0.80722	D	1	P;B	0.48589	0.912;0.095	B;B	0.40864	0.342;0.038	T	0.72354	-0.4319	10	0.66056	D	0.02	-14.4967	9.101	0.36669	0.0:0.8145:0.0:0.1855	.	101;115	P37840-3;P37840	.;SYUA_HUMAN	Y	101;115;115;115;115;115;101	ENSP00000378440:D101Y;ENSP00000378437:D115Y;ENSP00000378442:D115Y;ENSP00000338345:D115Y;ENSP00000426955:D115Y;ENSP00000422238:D115Y;ENSP00000421485:D101Y	ENSP00000338345:D115Y	D	-	1	0	SNCA	90869415	1.000000	0.71417	0.995000	0.50966	0.669000	0.39330	0.771000	0.26633	1.156000	0.42514	0.655000	0.94253	GAT		0.373	SNCA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253547.2			8	40	1	0	0.00307968	1	0.00310122	8	40				
SLC19A2	10560	broad.mit.edu	37	1	169437407	169437407	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:169437407G>A	ENST00000236137.5	-	5	1543	c.1307C>T	c.(1306-1308)aCg>aTg	p.T436M	SLC19A2_ENST00000367804.4_Missense_Mutation_p.T235M	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	436					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)	p.T436M(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	AGTGAGCAGCGTCTGCAGTGC	0.418																																						ENST00000236137.5																			1	Substitution - Missense(1)	p.T436M(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11						c.(1306-1308)aCg>aTg		solute carrier family 19 (thiamine transporter), member 2							103.0	92.0	96.0					1																	169437407		2203	4300	6503	SO:0001583	missense	10560				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr1:169437407G>A	AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"""Solute carriers"""	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.1307C>T	1.37:g.169437407G>A	ENSP00000236137:p.Thr436Met					SLC19A2_ENST00000367804.3_Missense_Mutation_p.T235M|SLC19A2_ENST00000367802.3_Missense_Mutation_p.T398M	p.T436M	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN			5	1543	-	all_hematologic(923;0.208)		436					B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Missense_Mutation	SNP	ENST00000236137.5	37	c.1307C>T	CCDS1280.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.670032	0.88348	.	.	ENSG00000117479	ENST00000236137;ENST00000367804;ENST00000367802	T;T;T	0.81415	-1.49;-1.42;-1.49	5.42	5.42	0.78866	Major facilitator superfamily domain, general substrate transporter (1);	0.110216	0.64402	D	0.000010	D	0.88362	0.6416	M	0.74389	2.26	0.37952	D	0.932670	P;D	0.89917	0.923;1.0	P;D	0.70716	0.462;0.97	D	0.88735	0.3239	9	0.72032	D	0.01	-19.2086	19.5833	0.95478	0.0:0.0:1.0:0.0	.	235;436	O60779-2;O60779	.;S19A2_HUMAN	M	436;235;398	ENSP00000236137:T436M;ENSP00000356778:T235M;ENSP00000356776:T398M	ENSP00000236137:T436M	T	-	2	0	SLC19A2	167704031	1.000000	0.71417	0.994000	0.49952	0.879000	0.50718	6.338000	0.72963	2.703000	0.92315	0.655000	0.94253	ACG		0.418	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1	NM_006996		5	65	0	0	0	1	0	5	65				
NUP188	23511	broad.mit.edu	37	9	131735480	131735480	+	Silent	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr9:131735480C>G	ENST00000372577.2	+	12	1176	c.1155C>G	c.(1153-1155)ctC>ctG	p.L385L		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	385					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ATGGACTGCTCTCTTTCGTTC	0.502																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(1153-1155)ctC>ctG		nucleoporin 188kDa							172.0	131.0	145.0					9																	131735480		2203	4300	6503	SO:0001819	synonymous_variant	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131735480C>G	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.1155C>G	9.37:g.131735480C>G							p.L385L	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			12	1176	+			385					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	ENST00000372577.2	37	c.1155C>G	CCDS35156.1																																																																																				0.502	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			15	30	0	0	0	1	0	15	30				
SARDH	1757	broad.mit.edu	37	9	136573530	136573530	+	Missense_Mutation	SNP	G	G	A	rs201111406		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr9:136573530G>A	ENST00000371872.4	-	11	1606	c.1349C>T	c.(1348-1350)aCg>aTg	p.T450M	SARDH_ENST00000439388.1_Missense_Mutation_p.T450M|SARDH_ENST00000422262.2_Missense_Mutation_p.T282M	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	450					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGGGTGGTCCGTGAGCGAGTG	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		14287	0.0		0.001	False		,,,				2504	0.0					ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(1348-1350)aCg>aTg		sarcosine dehydrogenase							57.0	65.0	62.0					9																	136573530		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136573530G>A		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1349C>T	9.37:g.136573530G>A	ENSP00000360938:p.Thr450Met					SARDH_ENST00000422262.2_Missense_Mutation_p.T282M|SARDH_ENST00000439388.1_Missense_Mutation_p.T450M	p.T450M	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	11	1606	-			450					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.1349C>T	CCDS6978.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.65	2.300782	0.40694	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227	D;D;D	0.85088	-1.94;-1.94;-1.94	5.15	5.15	0.70609	.	0.281286	0.39341	N	0.001396	T	0.81498	0.4835	L	0.45228	1.405	0.80722	D	1	P	0.40083	0.702	B	0.37091	0.241	T	0.82196	-0.0577	10	0.42905	T	0.14	-24.2495	18.6122	0.91290	0.0:0.0:1.0:0.0	.	450	Q9UL12	SARDH_HUMAN	M	450;450;282;450;450	ENSP00000360938:T450M;ENSP00000403084:T450M;ENSP00000415537:T282M	ENSP00000360938:T450M	T	-	2	0	SARDH	135563351	1.000000	0.71417	0.902000	0.35471	0.054000	0.15201	7.704000	0.84595	2.378000	0.81104	0.557000	0.71058	ACG		0.652	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			49	107	0	0	0	1	0	49	107				
TAF4B	6875	broad.mit.edu	37	18	23969873	23969873	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr18:23969873G>A	ENST00000269142.5	+	15	3484	c.2486G>A	c.(2485-2487)cGt>cAt	p.R829H	TAF4B_ENST00000578121.1_Missense_Mutation_p.R834H	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	829					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			CAGTTGCATCGTCCAAGAATC	0.423																																						ENST00000269142.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29						c.(2485-2487)cGt>cAt		TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa							114.0	109.0	111.0					18																	23969873		1900	4127	6027	SO:0001583	missense	6875				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	g.chr18:23969873G>A	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.2486G>A	18.37:g.23969873G>A	ENSP00000269142:p.Arg829His					TAF4B_ENST00000578121.1_Missense_Mutation_p.R834H	p.R829H	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		15	3484	+	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		829					Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	37	c.2486G>A	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	G	9.945	1.218495	0.22373	.	.	ENSG00000141384	ENST00000418698;ENST00000269142	T	0.33438	1.41	5.71	4.84	0.62591	Transcription initiation factor TFIID component TAF4 (1);	0.429311	0.24249	N	0.040185	T	0.30135	0.0755	M	0.81497	2.545	0.80722	D	1	P;P	0.45986	0.87;0.637	B;B	0.35971	0.215;0.142	T	0.20042	-1.0287	10	0.45353	T	0.12	-0.2979	6.8029	0.23762	0.1449:0.0:0.7118:0.1433	.	829;834	Q92750;A4PBF7	TAF4B_HUMAN;.	H	832;829	ENSP00000269142:R829H	ENSP00000269142:R829H	R	+	2	0	TAF4B	22223871	1.000000	0.71417	0.966000	0.40874	0.389000	0.30415	2.052000	0.41316	1.429000	0.47314	0.644000	0.83932	CGT		0.423	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640		24	90	0	0	0	1	0	24	90				
HEPACAM2	253012	broad.mit.edu	37	7	92844792	92844792	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr7:92844792C>T	ENST00000394468.2	-	3	714	c.637G>A	c.(637-639)Gac>Aac	p.D213N	HEPACAM2_ENST00000453812.2_Missense_Mutation_p.D236N|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.D201N|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.D201N	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	213	Ig-like C2-type 1.				centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TTCCCAATGTCTTCCTTGGTT	0.403																																						ENST00000394468.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						c.(637-639)Gac>Aac		HEPACAM family member 2							138.0	134.0	135.0					7																	92844792		2203	4300	6503	SO:0001583	missense	253012					integral to membrane		g.chr7:92844792C>T	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.637G>A	7.37:g.92844792C>T	ENSP00000377980:p.Asp213Asn					HEPACAM2_ENST00000341723.4_Missense_Mutation_p.D201N|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.D236N|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.D201N	p.D213N	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN			3	714	-			213			Ig-like C2-type 1.		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	c.637G>A	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837645	0.91117	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.39	4.45	0.53987	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.042931	0.85682	D	0.000000	D	0.90113	0.6911	M	0.85542	2.76	0.47994	D	0.999568	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.76071	0.987;0.985;0.981;0.968	D	0.91155	0.4956	10	0.62326	D	0.03	-22.0289	15.9079	0.79445	0.0:0.8646:0.1354:0.0	.	236;201;213;201	E9PDV5;C9JN07;A8MVW5;A8MVW5-2	.;.;HECA2_HUMAN;.	N	213;201;201;236	ENSP00000377980:D213N;ENSP00000340532:D201N;ENSP00000389592:D201N;ENSP00000390204:D236N	ENSP00000340532:D201N	D	-	1	0	HEPACAM2	92682728	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.884000	0.63135	2.698000	0.92095	0.591000	0.81541	GAC		0.403	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		14	65	0	0	0	1	0	14	65				
TMEM25	84866	broad.mit.edu	37	11	118403152	118403152	+	Missense_Mutation	SNP	G	G	A	rs149608668	byFrequency	TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr11:118403152G>A	ENST00000313236.5	+	3	411	c.358G>A	c.(358-360)Gcc>Acc	p.A120T	TMEM25_ENST00000411589.2_Missense_Mutation_p.A120T|TMEM25_ENST00000529001.1_3'UTR|TMEM25_ENST00000442938.2_Missense_Mutation_p.A120T|TMEM25_ENST00000359862.4_Missense_Mutation_p.A120T|TMEM25_ENST00000354064.7_Intron|RP11-770J1.3_ENST00000532597.1_RNA|TMEM25_ENST00000533102.1_Missense_Mutation_p.A120T|RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|TMEM25_ENST00000354284.4_Missense_Mutation_p.A120T|RP11-770J1.3_ENST00000556583.1_RNA|TMEM25_ENST00000544878.1_Missense_Mutation_p.A120T|TMEM25_ENST00000524725.1_Missense_Mutation_p.A120T|RP11-770J1.3_ENST00000554407.1_RNA	NM_032780.3	NP_116169.2	Q86YD3	TMM25_HUMAN	transmembrane protein 25	120	Ig-like.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		ATCAGCCAACGCCTCTGTCAT	0.612													G|||	3	0.000599042	0.0	0.0	5008	,	,		18528	0.0		0.0	False		,,,				2504	0.0031					ENST00000524725.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13						c.(358-360)Gcc>Acc		transmembrane protein 25		G	THR/ALA,THR/ALA,,THR/ALA,THR/ALA,THR/ALA	0,4400		0,0,2200	65.0	64.0	64.0		358,358,,358,358,358	5.3	1.0	11	dbSNP_134	64	1,8589	1.2+/-3.3	0,1,4294	no	missense,missense,intron,missense,missense,missense	TMEM25	NM_001144034.1,NM_001144035.1,NM_001144036.1,NM_001144037.1,NM_001144038.1,NM_032780.3	58,58,,58,58,58	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,,benign,benign,benign	120/323,120/323,,120/352,120/307,120/367	118403152	1,12989	2200	4295	6495	SO:0001583	missense	84866					extracellular region|integral to membrane|plasma membrane		g.chr11:118403152G>A	AK075437	CCDS8398.1, CCDS44745.1, CCDS44746.1, CCDS44747.1, CCDS44748.1	11q23.3	2013-01-11			ENSG00000149582	ENSG00000149582		"""Immunoglobulin superfamily / C2-set domain containing"""	25890	protein-coding gene	gene with protein product		613934				15254712, 12975309	Standard	NM_001144034		Approved	FLJ14399	uc010rye.2	Q86YD3	OTTHUMG00000166339	ENST00000313236.5:c.358G>A	11.37:g.118403152G>A	ENSP00000315635:p.Ala120Thr					TMEM25_ENST00000533102.1_Missense_Mutation_p.A120T|TMEM25_ENST00000529001.1_3'UTR|TMEM25_ENST00000442938.2_Missense_Mutation_p.A120T|TMEM25_ENST00000411589.2_Missense_Mutation_p.A120T|TMEM25_ENST00000354064.7_Intron|TMEM25_ENST00000354284.4_Missense_Mutation_p.A120T|TMEM25_ENST00000544878.1_Missense_Mutation_p.A120T|TMEM25_ENST00000313236.5_Missense_Mutation_p.A120T|TMEM25_ENST00000359862.4_Missense_Mutation_p.A120T	p.A120T			Q86YD3	TMM25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	2	770	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)	120			Ig-like.		A8K8J4|B0YJA6|B0YJA7|B0YJA9|G5E9U4|Q6UW89|Q86UA7|Q8NBL5|Q96KA6|Q96MW9	Missense_Mutation	SNP	ENST00000313236.5	37	c.358G>A	CCDS8398.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205626	0.79127	0.0	1.16E-4	ENSG00000149582	ENST00000411589;ENST00000442938;ENST00000359862;ENST00000528373;ENST00000544878;ENST00000354284;ENST00000533137;ENST00000532762;ENST00000533102;ENST00000313236;ENST00000524725;ENST00000533689	D;D;D;D;D;D;D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	5.31	5.31	0.75309	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82903	0.5138	L	0.32530	0.975	0.33116	D	0.541218	D;P;D;P;P;P;P;D	0.56287	0.975;0.835;0.957;0.835;0.897;0.897;0.865;0.975	P;B;B;B;B;B;B;B	0.47786	0.557;0.073;0.179;0.118;0.235;0.235;0.157;0.36	D	0.86345	0.1707	10	0.44086	T	0.13	-15.122	10.1064	0.42535	0.0923:0.0:0.9077:0.0	.	120;120;120;120;120;120;120;120	F5H294;Q86YD3;B7Z4E4;Q8NBL5;G5E9U4;Q86YD3-4;E9PKP3;Q86YD3-2	.;TMM25_HUMAN;.;.;.;.;.;.	T	120;120;120;120;120;120;88;120;120;120;120;120	ENSP00000411882:A120T;ENSP00000416071:A120T;ENSP00000352924:A120T;ENSP00000432040:A120T;ENSP00000439408:A120T;ENSP00000346237:A120T;ENSP00000433938:A88T;ENSP00000433906:A120T;ENSP00000431548:A120T;ENSP00000315635:A120T;ENSP00000431205:A120T;ENSP00000436746:A120T	ENSP00000315635:A120T	A	+	1	0	TMEM25	117908362	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	5.680000	0.68168	2.466000	0.83321	0.561000	0.74099	GCC		0.612	TMEM25-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389266.1	NM_032780		11	62	0	0	0	1	0	11	62				
TBCB	1155	broad.mit.edu	37	19	36616423	36616423	+	Silent	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr19:36616423C>G	ENST00000221855.3	+	5	1193	c.618C>G	c.(616-618)ggC>ggG	p.G206G	TBCB_ENST00000586868.1_Missense_Mutation_p.A59G|TBCB_ENST00000589996.1_Missense_Mutation_p.A190G|TBCB_ENST00000585746.1_Silent_p.G155G	NM_001281.2	NP_001272.2	Q99426	TBCB_HUMAN	tubulin folding cofactor B	206	CAP-Gly. {ECO:0000255|PROSITE- ProRule:PRU00045}.				'de novo' posttranslational protein folding (GO:0051084)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AAAATGATGGCAGGTAACAAG	0.512																																						ENST00000589996.1																			0				large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(568-570)gCa>gGa		tubulin folding cofactor B							190.0	197.0	195.0					19																	36616423		2203	4300	6503	SO:0001819	synonymous_variant	1155				'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding	g.chr19:36616423C>G	AF013488	CCDS12488.1, CCDS74344.1	19q13.11-q13.12	2008-02-05	2006-11-22	2006-11-22	ENSG00000105254	ENSG00000105254			1989	protein-coding gene	gene with protein product		601303	"""cytoskeleton-associated protein 1"", ""cytoskeleton associated protein 1"""	CKAP1		8978778	Standard	NM_001281		Approved	CG22, CKAPI	uc002odg.1	Q99426	OTTHUMG00000048143	ENST00000221855.3:c.618C>G	19.37:g.36616423C>G						TBCB_ENST00000221855.3_Silent_p.G206G|TBCB_ENST00000585746.1_Silent_p.G155G|TBCB_ENST00000586868.1_Missense_Mutation_p.A59G	p.A190G			Q99426	TBCB_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		5	611	+	Esophageal squamous(110;0.162)		0			CAP-Gly.		O00111|O00674|O14728|Q6FGY5	Missense_Mutation	SNP	ENST00000221855.3	37	c.569C>G	CCDS12488.1																																																																																				0.512	TBCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156291.2	NM_001281		16	132	0	0	0	1	0	16	132				
CYP2B7P	1556	broad.mit.edu	37	19	41448070	41448070	+	RNA	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr19:41448070G>A	ENST00000599198.1	+	0	977					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						ACCACTCTCCGCTACGGCTTC	0.557																																						ENST00000599198.1																			0				NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12																																														1556							g.chr19:41448070G>A																													19.37:g.41448070G>A								NR_001278.1						0	977	+									RNA	SNP	ENST00000599198.1	37			.	.	.	.	.	.	.	.	.	.	G	16.04	3.010775	0.54361	.	.	ENSG00000256612	ENST00000541697	.	.	.	3.35	3.35	0.38373	.	0.000000	0.85682	D	0.000000	T	0.66607	0.2806	.	.	.	.	.	.	.	.	.	.	.	.	T	0.78324	-0.2248	5	0.72032	D	0.01	.	12.5173	0.56040	0.0:0.0:1.0:0.0	.	.	.	.	H	308	.	ENSP00000441190:R308H	R	+	2	0	AC008537.4	46139910	0.000000	0.05858	0.955000	0.39395	0.568000	0.35870	0.266000	0.18534	1.874000	0.54306	0.195000	0.17529	CGC		0.557	CYP2B7P1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000465180.1			8	57	0	0	0	1	0	8	57				
GPR112	139378	broad.mit.edu	37	X	135429650	135429650	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chrX:135429650C>T	ENST00000394143.1	+	6	4076	c.3785C>T	c.(3784-3786)aCc>aTc	p.T1262I	GPR112_ENST00000287534.4_Missense_Mutation_p.T1199I|GPR112_ENST00000394141.1_Missense_Mutation_p.T1057I|GPR112_ENST00000370652.1_Missense_Mutation_p.T1262I|GPR112_ENST00000412101.1_Missense_Mutation_p.T1057I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1262					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GACCAGATGACCATATCCCTG	0.448																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(3784-3786)aCc>aTc		G protein-coupled receptor 112							127.0	108.0	115.0					X																	135429650		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135429650C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3785C>T	X.37:g.135429650C>T	ENSP00000377699:p.Thr1262Ile					GPR112_ENST00000287534.4_Missense_Mutation_p.T1199I|GPR112_ENST00000412101.1_Missense_Mutation_p.T1057I|GPR112_ENST00000394141.1_Missense_Mutation_p.T1057I|GPR112_ENST00000370652.1_Missense_Mutation_p.T1262I	p.T1262I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	4076	+	Acute lymphoblastic leukemia(192;0.000127)		1262					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.3785C>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	0.025	-1.383061	0.01194	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.32515	1.48;1.48;1.45;1.58;1.45	3.05	-2.0	0.07433	.	.	.	.	.	T	0.14830	0.0358	N	0.14661	0.345	0.09310	N	1	B;B;B	0.23891	0.039;0.093;0.012	B;B;B	0.22880	0.042;0.018;0.007	T	0.21552	-1.0242	9	0.87932	D	0	.	3.2046	0.06661	0.1947:0.3752:0.0:0.4301	.	1199;1057;1262	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	I	1262;1262;1057;1199;1057	ENSP00000377699:T1262I;ENSP00000359686:T1262I;ENSP00000416526:T1057I;ENSP00000287534:T1199I;ENSP00000377697:T1057I	ENSP00000287534:T1199I	T	+	2	0	GPR112	135257316	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.510000	0.06328	-0.793000	0.04475	0.525000	0.51046	ACC		0.448	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			20	44	0	0	0	1	0	20	44				
ARHGEF18	23370	broad.mit.edu	37	19	7509297	7509297	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr19:7509297G>A	ENST00000359920.6	+	4	1257	c.1004G>A	c.(1003-1005)cGg>cAg	p.R335Q	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R177Q|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.G293R	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	335	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GGCAGTGACCGGAATTATGTC	0.597																																						ENST00000359920.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(1003-1005)cGg>cAg		Rho/Rac guanine nucleotide exchange factor (GEF) 18							54.0	56.0	55.0					19																	7509297		2203	4300	6503	SO:0001583	missense	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7509297G>A	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.1004G>A	19.37:g.7509297G>A	ENSP00000352995:p.Arg335Gln					CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.G293R|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R177Q	p.R335Q	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN			4	1257	+		Renal(5;0.0902)	335			DH.		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.1004G>A	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732230	0.48939	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.67523	-0.27;-0.27	5.0	1.22	0.21188	Dbl homology (DH) domain (5);	0.275715	0.26119	N	0.026228	T	0.52725	0.1752	L	0.36672	1.1	0.51482	D	0.999928	B	0.31581	0.329	B	0.32583	0.148	T	0.49133	-0.8971	10	0.45353	T	0.12	-23.2678	9.2792	0.37718	0.2906:0.0:0.7094:0.0	.	335	Q6ZSZ5	ARHGI_HUMAN	Q	177;335	ENSP00000319200:R177Q;ENSP00000352995:R335Q	ENSP00000319200:R177Q	R	+	2	0	ARHGEF18	7415297	0.345000	0.24835	0.702000	0.30337	0.823000	0.46562	1.338000	0.33873	0.520000	0.28426	0.561000	0.74099	CGG		0.597	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		13	53	0	0	0	1	0	13	53				
GKAP1	80318	broad.mit.edu	37	9	86421373	86421373	+	Silent	SNP	T	T	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr9:86421373T>C	ENST00000376371.2	-	3	460	c.60A>G	c.(58-60)caA>caG	p.Q20Q	GKAP1_ENST00000376365.3_Silent_p.Q20Q	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	20					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						CACTATCCACTTGTAACAGGG	0.403																																						ENST00000376371.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						c.(58-60)caA>caG		G kinase anchoring protein 1							58.0	60.0	59.0					9																	86421373		2203	4300	6503	SO:0001819	synonymous_variant	80318				signal transduction	Golgi apparatus		g.chr9:86421373T>C	BC014476	CCDS35049.1, CCDS47988.1	9q22.1	2008-02-05			ENSG00000165113	ENSG00000165113			17496	protein-coding gene	gene with protein product	"""cGMP-dependent protein kinase anchoring protein 42kDa"""	611356					Standard	NM_025211		Approved	GKAP42, FKSG21	uc004amy.3	Q5VSY0	OTTHUMG00000020106	ENST00000376371.2:c.60A>G	9.37:g.86421373T>C						GKAP1_ENST00000376365.3_Silent_p.Q20Q	p.Q20Q	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN			3	460	-			20					Q96LI0|Q9BYI1|Q9BYI2|Q9H225	Silent	SNP	ENST00000376371.2	37	c.60A>G	CCDS35049.1																																																																																				0.403	GKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052839.2	NM_025211		5	35	0	0	0	1	0	5	35				
DBH	1621	broad.mit.edu	37	9	136501745	136501745	+	Silent	SNP	C	C	T	rs570356950		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr9:136501745C>T	ENST00000393056.2	+	1	264	c.252C>T	c.(250-252)ggC>ggT	p.G84G		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	84	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.				behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)	p.G84G(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	TCAAGGCTGGCGTCCTGTTTG	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		17929	0.0		0.001	False		,,,				2504	0.0					ENST00000393056.2																			1	Substitution - coding silent(1)	p.G84G(1)	large_intestine(1)	central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(250-252)ggC>ggT		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						80.0	59.0	66.0					9																	136501745		2203	4300	6503	SO:0001819	synonymous_variant	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136501745C>T	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.252C>T	9.37:g.136501745C>T							p.G84G	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	1	264	+			84			DOMON.		Q5T381|Q96AG2	Silent	SNP	ENST00000393056.2	37	c.252C>T	CCDS6977.2																																																																																				0.612	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		17	41	0	0	0	1	0	17	41				
GRIN2B	2904	broad.mit.edu	37	12	13716837	13716837	+	Missense_Mutation	SNP	C	C	T	rs557670363		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr12:13716837C>T	ENST00000609686.1	-	13	3544	c.3335G>A	c.(3334-3336)cGa>cAa	p.R1112Q		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1112					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCGGGGCGGTCGGCGACGGTA	0.602																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3334-3336)cGa>cAa		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						71.0	67.0	68.0					12																	13716837		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716837C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3335G>A	12.37:g.13716837C>T	ENSP00000477455:p.Arg1112Gln						p.R1112Q	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	3544	-			1112					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.3335G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121042	0.56613	.	.	ENSG00000150086	ENST00000279593	T	0.12672	2.66	5.66	5.66	0.87406	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.393988	0.25338	N	0.031390	T	0.15132	0.0365	L	0.46157	1.445	0.52099	D	0.999944	P	0.47484	0.896	B	0.40285	0.325	T	0.09509	-1.0671	10	0.13108	T	0.6	.	19.756	0.96291	0.0:1.0:0.0:0.0	.	1112	Q13224	NMDE2_HUMAN	Q	1112	ENSP00000279593:R1112Q	ENSP00000279593:R1112Q	R	-	2	0	GRIN2B	13608104	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	5.270000	0.65547	2.665000	0.90641	0.655000	0.94253	CGA		0.602	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			18	47	0	0	0	1	0	18	47				
TCEB3	6924	broad.mit.edu	37	1	24078328	24078328	+	Silent	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:24078328C>G	ENST00000418390.2	+	4	1582	c.1311C>G	c.(1309-1311)ctC>ctG	p.L437L	TCEB3_ENST00000609199.1_Silent_p.L411L	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	437					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AATCCTACCTCAGCTATGACC	0.428											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000418390.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(1309-1311)ctC>ctG		transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)							111.0	129.0	123.0					1																	24078328		2201	4300	6501	SO:0001819	synonymous_variant	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24078328C>G	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1311C>G	1.37:g.24078328C>G			OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	768		p.L437L	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	4	1582	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	437					B2R7Q8|Q8IXH1	Silent	SNP	ENST00000418390.2	37	c.1311C>G	CCDS239.2																																																																																				0.428	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		37	238	0	0	0	1	0	37	238				
DSCAML1	57453	broad.mit.edu	37	11	117376387	117376387	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr11:117376387A>T	ENST00000321322.6	-	9	2025	c.2024T>A	c.(2023-2025)aTt>aAt	p.I675N	DSCAML1_ENST00000527706.1_Missense_Mutation_p.I405N	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	615	Ig-like C2-type 7.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACACAGGGAATGTAGAGCAG	0.627																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(2023-2025)aTt>aAt		Down syndrome cell adhesion molecule like 1							106.0	82.0	90.0					11																	117376387		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117376387A>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2024T>A	11.37:g.117376387A>T	ENSP00000315465:p.Ile675Asn					DSCAML1_ENST00000527706.1_Missense_Mutation_p.I405N	p.I675N	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	9	2025	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	615			Ig-like C2-type 7.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.2024T>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.460260	0.84317	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.74002	-0.8;-0.8	5.06	5.06	0.68205	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88775	0.6528	M	0.92923	3.36	0.80722	D	1	D	0.64830	0.994	D	0.70227	0.968	D	0.91565	0.5267	9	0.87932	D	0	.	14.9676	0.71208	1.0:0.0:0.0:0.0	.	615	Q8TD84	DSCL1_HUMAN	N	405;675;382	ENSP00000434335:I405N;ENSP00000315465:I675N	ENSP00000315465:I675N	I	-	2	0	DSCAML1	116881597	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.139000	0.94554	2.118000	0.64928	0.402000	0.26972	ATT		0.627	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		6	51	0	0	0	1	0	6	51				
SYTL1	84958	broad.mit.edu	37	1	27676954	27676954	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:27676954C>T	ENST00000543823.1	+	9	1445	c.983C>T	c.(982-984)cCg>cTg	p.P328L	SYTL1_ENST00000318074.5_Missense_Mutation_p.P316L|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	328	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AATCTGAATCCGGTTTTCAAC	0.592																																						ENST00000543823.1																			0				NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12						c.(982-984)cCg>cTg		synaptotagmin-like 1							105.0	91.0	96.0					1																	27676954		2203	4300	6503	SO:0001583	missense	84958				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding	g.chr1:27676954C>T	AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.983C>T	1.37:g.27676954C>T	ENSP00000440704:p.Pro328Leu					SYTL1_ENST00000318074.5_Missense_Mutation_p.P316L|SYTL1_ENST00000490170.1_3'UTR	p.P328L			Q8IYJ3	SYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	9	1445	+		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)	328			C2 1.		Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Missense_Mutation	SNP	ENST00000543823.1	37	c.983C>T	CCDS53286.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.419487|4.419487	0.83559|0.83559	.|.	.|.	ENSG00000142765|ENSG00000142765	ENST00000318074;ENST00000543823;ENST00000485269|ENST00000496001	D;D|.	0.91295|.	-2.82;-2.82|.	3.87|3.87	3.87|3.87	0.44632|0.44632	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91686|0.91686	0.7372|0.7372	H|H	0.99911|0.99911	4.935|4.935	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|D	0.95407|0.95407	0.8495|0.8495	10|5	0.87932|.	D|.	0|.	-27.7595|-27.7595	15.1166|15.1166	0.72407|0.72407	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	328;328;316|.	A8KAH3;Q8IYJ3;Q8IYJ3-2|.	.;SYTL1_HUMAN;.|.	L|W	316;328;81|176	ENSP00000316464:P316L;ENSP00000440704:P328L|.	ENSP00000316464:P316L|.	P|R	+|+	2|1	0|2	SYTL1|SYTL1	27549541|27549541	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.860000|0.860000	0.49131|0.49131	5.591000|5.591000	0.67536|0.67536	2.155000|2.155000	0.67459|0.67459	0.462000|0.462000	0.41574|0.41574	CCG|CGG		0.592	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032872		21	97	0	0	0	1	0	21	97				
PCNXL3	399909	broad.mit.edu	37	11	65386040	65386040	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr11:65386040C>T	ENST00000355703.3	+	6	1746	c.1207C>T	c.(1207-1209)Cca>Tca	p.P403S		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	403						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						AAGACACTCTCCACCTGGCCG	0.662																																						ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(1207-1209)Cca>Tca		pecanex-like 3 (Drosophila)							18.0	20.0	19.0					11																	65386040		1991	4163	6154	SO:0001583	missense	399909					integral to membrane		g.chr11:65386040C>T	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.1207C>T	11.37:g.65386040C>T	ENSP00000347931:p.Pro403Ser						p.P403S	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			6	1746	+			403					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.1207C>T	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	C	9.885	1.202619	0.22121	.	.	ENSG00000197136	ENST00000355703	T	0.00949	5.51	5.0	5.0	0.66597	.	0.000000	0.37393	N	0.002104	T	0.01421	0.0046	N	0.19112	0.55	0.35736	D	0.818276	D	0.69078	0.997	P	0.57911	0.829	T	0.60929	-0.7165	10	0.02654	T	1	.	13.8064	0.63236	0.0:1.0:0.0:0.0	.	403	Q9H6A9	PCX3_HUMAN	S	403	ENSP00000347931:P403S	ENSP00000347931:P403S	P	+	1	0	PCNXL3	65142616	0.004000	0.15560	0.929000	0.37066	0.915000	0.54546	0.760000	0.26475	2.326000	0.78906	0.462000	0.41574	CCA		0.662	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		4	42	0	0	0	1	0	4	42				
CELSR2	1952	broad.mit.edu	37	1	109810195	109810195	+	Silent	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:109810195G>A	ENST00000271332.3	+	16	6100	c.6039G>A	c.(6037-6039)gaG>gaA	p.E2013E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2013					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ACTGTGATGAGCACAGGGGGT	0.587																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(6037-6039)gaG>gaA		cadherin, EGF LAG seven-pass G-type receptor 2							93.0	92.0	92.0					1																	109810195		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109810195G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.6039G>A	1.37:g.109810195G>A							p.E2013E	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	16	6100	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2013					Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.6039G>A	CCDS796.1																																																																																				0.587	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		12	80	0	0	0	1	0	12	80				
ANKRD19P	138649	broad.mit.edu	37	9	95599557	95599557	+	RNA	SNP	T	T	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr9:95599557T>C	ENST00000473204.1	+	0	1638							Q9H560	ANR19_HUMAN	ankyrin repeat domain 19, pseudogene							extracellular vesicular exosome (GO:0070062)											ATGGGAGACATGTGCTGGGTC	0.612																																						ENST00000473204.1																			0																																																			138649							g.chr9:95599557T>C	BC038951		9q22.32	2011-04-27	2011-04-27	2011-04-27	ENSG00000187984	ENSG00000187984			22567	pseudogene	pseudogene			"""ankyrin repeat domain 19"", ""ankyrin repeat domain 19 pseudogene"""	ANKRD19			Standard	NR_026868		Approved	FLJ36178	uc011lua.1	Q9H560	OTTHUMG00000020237		9.37:g.95599557T>C														0	1638	+								A8K853|Q17RD3	RNA	SNP	ENST00000473204.1	37																																																																																						0.612	ANKRD19P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000053116.3	NR_026868		4	101	0	0	0	1	0	4	101				
BROX	148362	broad.mit.edu	37	1	222905989	222905989	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:222905989A>C	ENST00000340934.5	+	13	1575	c.1169A>C	c.(1168-1170)gAa>gCa	p.E390A	BROX_ENST00000539697.1_Missense_Mutation_p.E358A|BROX_ENST00000537020.1_Missense_Mutation_p.K337Q	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	390	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						AAACCAGAAGAAGAAGTGAAA	0.363																																						ENST00000340934.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						c.(1168-1170)gAa>gCa		BRO1 domain and CAAX motif containing							72.0	69.0	70.0					1																	222905989		2203	4300	6503	SO:0001583	missense	148362					membrane		g.chr1:222905989A>C		CCDS1534.1, CCDS73036.1, CCDS73037.1	1q41	2010-11-30	2010-11-30	2010-11-30	ENSG00000162819	ENSG00000162819			26512	protein-coding gene	gene with protein product	"""BRO1 domain containing protein"""		"""chromosome 1 open reading frame 58"""	C1orf58		18190528	Standard	XM_005273065		Approved	FLJ32421	uc001hnq.1	Q5VW32	OTTHUMG00000037650	ENST00000340934.5:c.1169A>C	1.37:g.222905989A>C	ENSP00000343742:p.Glu390Ala					BROX_ENST00000537020.1_Missense_Mutation_p.K337Q|BROX_ENST00000539697.1_Missense_Mutation_p.E358A	p.E390A	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN			13	1575	+			390			BRO1.		B7Z9G5|Q96MG1	Missense_Mutation	SNP	ENST00000340934.5	37	c.1169A>C	CCDS1534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	19.71|19.71	3.878765|3.878765	0.72294|0.72294	.|.	.|.	ENSG00000162819|ENSG00000162819	ENST00000340934;ENST00000539697|ENST00000537020	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	BRO1 domain (1);|.	0.043299|.	0.85682|.	D|.	0.000000|.	T|T	0.54565|0.54565	0.1866|0.1866	L|L	0.50333|0.50333	1.59|1.59	0.34290|0.34290	D|D	0.68318|0.68318	P;P|B	0.38195|0.29301	0.457;0.622|0.241	B;B|B	0.32980|0.26310	0.112;0.156|0.068	T|T	0.65232|0.65232	-0.6218|-0.6218	9|8	0.25106|0.56958	T|D	0.35|0.05	-14.2726|-14.2726	16.4837|16.4837	0.84171|0.84171	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	358;390|337	B7Z9G5;Q5VW32|F5GXQ0	.;BROX_HUMAN|.	A|Q	390;358|337	.|.	ENSP00000343742:E390A|ENSP00000440041:K337Q	E|K	+|+	2|1	0|0	BROX|BROX	220972612|220972612	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.993000|0.993000	0.82548|0.82548	8.695000|8.695000	0.91298|0.91298	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	GAA|AAG		0.363	BROX-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091815.2	NM_144695		6	34	0	0	0	1	0	6	34				
OR9G4	283189	broad.mit.edu	37	11	56511269	56511269	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr11:56511269C>A	ENST00000302957.3	-	1	18	c.19G>T	c.(19-21)Gat>Tat	p.D7Y		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GCCTGACTATCATGAGAAGGG	0.403																																						ENST00000302957.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(19-21)Gat>Tat		olfactory receptor, family 9, subfamily G, member 4							82.0	78.0	80.0					11																	56511269		2201	4296	6497	SO:0001583	missense	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56511269C>A	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.19G>T	11.37:g.56511269C>A	ENSP00000307515:p.Asp7Tyr						p.D7Y	NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN			1	18	-			7					Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	c.19G>T	CCDS31537.1	.	.	.	.	.	.	.	.	.	.	C	8.198	0.797538	0.16327	.	.	ENSG00000172457	ENST00000302957	T	0.00510	6.9	4.2	-2.51	0.06365	.	3.687250	0.01465	N	0.016027	T	0.00271	0.0008	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47560	-0.9108	10	0.54805	T	0.06	13.9126	1.0028	0.01481	0.2209:0.1914:0.3711:0.2166	.	7	Q8NGQ1	OR9G4_HUMAN	Y	7	ENSP00000307515:D7Y	ENSP00000307515:D7Y	D	-	1	0	OR9G4	56267845	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	-0.014000	0.12656	-0.462000	0.06984	-0.189000	0.12847	GAT		0.403	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		10	98	1	0	1.76689e-08	1	1.87083e-08	10	98				
PTPRC	5788	broad.mit.edu	37	1	198668738	198668738	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:198668738C>G	ENST00000367376.2	+	5	509	c.338C>G	c.(337-339)tCg>tGg	p.S113W	PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000352140.3_Missense_Mutation_p.S113W|PTPRC_ENST00000442510.2_Missense_Mutation_p.S115W|PTPRC_ENST00000348564.6_Intron	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	113					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CACGCAGACTCGCAGACGCCC	0.532											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(337-339)tCg>tGg		protein tyrosine phosphatase, receptor type, C							119.0	122.0	121.0					1																	198668738		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198668738C>G	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.338C>G	1.37:g.198668738C>G	ENSP00000356346:p.Ser113Trp		OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2100	PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.S115W|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000352140.3_Missense_Mutation_p.S113W|PTPRC_ENST00000594404.1_Intron	p.S113W	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			5	509	+			113					A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.338C>G		.	.	.	.	.	.	.	.	.	.	C	16.22	3.062324	0.55432	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000271610;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000418674	T	0.05081	3.5	5.07	2.17	0.27698	.	0.336646	0.21714	N	0.070232	T	0.18509	0.0444	M	0.66939	2.045	0.43457	D	0.995654	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D	0.91635	0.999;0.996;0.996;0.994;0.969;0.925	T	0.00303	-1.1833	10	0.87932	D	0	.	7.0227	0.24922	0.0:0.7106:0.0:0.2894	.	49;49;49;154;113;113	F5GXZ3;B4DSZ5;Q5T9M4;Q6Q1P2;E9PC28;P08575	.;.;.;.;.;PTPRC_HUMAN	W	115;49;113;113;154;47;113;47;113	ENSP00000193532:S113W	ENSP00000271610:S154W	S	+	2	0	PTPRC	196935361	0.005000	0.15991	0.860000	0.33809	0.631000	0.37964	-0.499000	0.06413	0.173000	0.19788	0.555000	0.69702	TCG		0.532	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				29	192	0	0	0	1	0	29	192				
PNPT1	87178	broad.mit.edu	37	2	55920943	55920943	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr2:55920943A>G	ENST00000447944.2	-	1	102	c.16T>C	c.(16-18)Tac>Cac	p.Y6H		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	6					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAGCAGCAGTACCTGCAGGCC	0.652																																						ENST00000447944.2																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27						c.(16-18)Tac>Cac		polyribonucleotide nucleotidyltransferase 1							39.0	37.0	38.0					2																	55920943		2203	4300	6503	SO:0001583	missense	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55920943A>G	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.16T>C	2.37:g.55920943A>G	ENSP00000400646:p.Tyr6His						p.Y6H	NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		1	102	-			6					Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	ENST00000447944.2	37	c.16T>C	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	A	1.681	-0.506585	0.04231	.	.	ENSG00000138035	ENST00000447944	T	0.57107	0.42	5.03	1.01	0.19927	.	1.625750	0.03040	N	0.153233	T	0.30727	0.0774	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12760	-1.0535	10	0.20519	T	0.43	10.5996	4.4805	0.11764	0.2733:0.1625:0.5642:0.0	.	6	Q8TCS8	PNPT1_HUMAN	H	6	ENSP00000400646:Y6H	ENSP00000260604:Y6H	Y	-	1	0	PNPT1	55774447	0.001000	0.12720	0.121000	0.21740	0.298000	0.27526	-0.064000	0.11636	0.046000	0.15833	-1.969000	0.00466	TAC		0.652	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109		13	67	0	0	0	1	0	13	67				
EXTL1	2134	broad.mit.edu	37	1	26360198	26360198	+	Silent	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:26360198C>T	ENST00000374280.3	+	9	2397	c.1530C>T	c.(1528-1530)gcC>gcT	p.A510A		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	510					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)		TGGACTTTGCCTTTCTGGTGT	0.597																																						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.(1528-1530)gcC>gcT		exostosin-like glycosyltransferase 1							165.0	157.0	160.0					1																	26360198		2203	4300	6503	SO:0001819	synonymous_variant	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26360198C>T	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.1530C>T	1.37:g.26360198C>T							p.A510A	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)	9	2397	+		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)	510					Q6GSC1	Silent	SNP	ENST00000374280.3	37	c.1530C>T	CCDS271.1																																																																																				0.597	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		26	144	0	0	0	1	0	26	144				
PRB3	5544	broad.mit.edu	37	12	11420681	11420681	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr12:11420681G>C	ENST00000279573.7	-	3	637	c.502C>G	c.(502-504)Caa>Gaa	p.Q168E	PRB3_ENST00000440870.3_Intron|PRB3_ENST00000538488.1_Missense_Mutation_p.Q147E|PRB3_ENST00000381842.3_Missense_Mutation_p.Q168E			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	168	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).		defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTTCCTCCTTGTGGGGGTGGT	0.652																																						ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3							64.0	83.0	77.0					12																	11420681		1687	3870	5557	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420681G>C			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.502C>G	12.37:g.11420681G>C	ENSP00000279573:p.Gln168Glu					PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA		NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	539	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37			.	.	.	.	.	.	.	.	.	.	.	0.013	-1.630283	0.00813	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.07114	3.52;3.22	1.08	-0.0574	0.13801	.	1.161200	0.07107	N	0.841451	T	0.04227	0.0117	.	.	.	0.09310	N	1	B	0.16603	0.018	B	0.08055	0.003	T	0.46359	-0.9197	9	0.20046	T	0.44	.	2.8886	0.05669	0.2248:0.3907:0.3846:0.0	.	168	Q04118	PRB3_HUMAN	E	168;147	ENSP00000371264:Q168E;ENSP00000442626:Q147E	ENSP00000279573:Q168E	Q	-	1	0	PRB3	11311948	0.003000	0.15002	0.002000	0.10522	0.025000	0.11179	0.999000	0.29757	-0.005000	0.14395	0.134000	0.15878	CAA		0.652	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		31	133	0	0	0	1	0	31	133				
TNS3	64759	broad.mit.edu	37	7	47317713	47317713	+	Silent	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr7:47317713G>A	ENST00000398879.1	-	31	4665	c.4299C>T	c.(4297-4299)ttC>ttT	p.F1433F	TNS3_ENST00000355730.3_Silent_p.F1193F|TNS3_ENST00000311160.9_Silent_p.F1433F			Q68CZ2	TENS3_HUMAN	tensin 3	1433					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CCTTTGATACGAAGTTGACAA	0.572																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(4297-4299)ttC>ttT		tensin 3							56.0	62.0	60.0					7																	47317713		2129	4259	6388	SO:0001819	synonymous_variant	64759					focal adhesion	protein binding	g.chr7:47317713G>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.4299C>T	7.37:g.47317713G>A						TNS3_ENST00000311160.9_Silent_p.F1433F|TNS3_ENST00000355730.3_Silent_p.F1193F	p.F1433F			Q68CZ2	TENS3_HUMAN			31	4665	-			1433					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	ENST00000398879.1	37	c.4299C>T	CCDS5506.2																																																																																				0.572	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		11	41	0	0	0	1	0	11	41				
TRIM37	4591	broad.mit.edu	37	17	57093003	57093003	+	Silent	SNP	C	C	T	rs532325984	byFrequency	TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr17:57093003C>T	ENST00000262294.7	-	21	2803	c.2544G>A	c.(2542-2544)gcG>gcA	p.A848A	TRIM37_ENST00000393065.2_Silent_p.A814A|TRIM37_ENST00000393066.3_Silent_p.A848A|TRIM37_ENST00000376149.3_Silent_p.A726A	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	848					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTTCTCAACCGCAGGCAAGC	0.398									Mulibrey Nanism				A|||	2	0.000399361	0.0	0.0	5008	,	,		14102	0.0		0.0	False		,,,				2504	0.002					ENST00000376149.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2176-2178)gcG>gcA		tripartite motif containing 37							124.0	132.0	129.0					17																	57093003		2203	4300	6503	SO:0001819	synonymous_variant	4591	Mulibrey Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57093003C>T	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2544G>A	17.37:g.57093003C>T						TRIM37_ENST00000262294.7_Silent_p.A848A|TRIM37_ENST00000393065.2_Silent_p.A814A|TRIM37_ENST00000393066.3_Silent_p.A848A	p.A726A			O94972	TRI37_HUMAN			21	2987	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		848					Q7Z3E6|Q8IYF7|Q8WYF7	Silent	SNP	ENST00000262294.7	37	c.2178G>A	CCDS32694.1																																																																																				0.398	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		25	138	0	0	0	1	0	25	138				
TNXB	7148	broad.mit.edu	37	6	32038185	32038185	+	Missense_Mutation	SNP	C	C	T	rs560985106	byFrequency	TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr6:32038185C>T	ENST00000375244.3	-	14	5198	c.4997G>A	c.(4996-4998)cGa>cAa	p.R1666Q	TNXB_ENST00000375247.2_Missense_Mutation_p.R1666Q			P22105	TENX_HUMAN	tenascin XB	1748	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCGTCACCTCGGGCAACTGG	0.602													C|||	2	0.000399361	0.0	0.0029	5008	,	,		17179	0.0		0.0	False		,,,				2504	0.0					ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(4996-4998)cGa>cAa		tenascin XB							14.0	15.0	15.0					6																	32038185		1903	4093	5996	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32038185C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4997G>A	6.37:g.32038185C>T	ENSP00000364393:p.Arg1666Gln					TNXB_ENST00000375247.2_Missense_Mutation_p.R1666Q	p.R1666Q			P22105	TENX_HUMAN			14	5198	-			1748			Fibronectin type-III 9.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.4997G>A		.	.	.	.	.	.	.	.	.	.	C	6.718	0.501121	0.12822	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.55930	0.65;0.49	4.44	-8.89	0.00785	.	2.591370	0.01593	N	0.021670	T	0.06600	0.0169	N	0.02802	-0.49	0.09310	N	1	B	0.22211	0.066	B	0.16722	0.016	T	0.03103	-1.1072	10	0.13470	T	0.59	.	6.6454	0.22933	0.0:0.2625:0.3172:0.4203	.	1666	P22105-3	.	Q	1666	ENSP00000364393:R1666Q;ENSP00000364396:R1666Q	ENSP00000364393:R1666Q	R	-	2	0	TNXB	32146163	0.000000	0.05858	0.001000	0.08648	0.790000	0.44656	-2.452000	0.01005	-1.707000	0.01402	-0.233000	0.12211	CGA		0.602	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		9	31	0	0	0	1	0	9	31				
KIT	3815	broad.mit.edu	37	4	55569941	55569941	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr4:55569941G>A	ENST00000288135.5	+	5	905	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	270	Ig-like C2-type 3.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCAATTATGAACGTCAGGC	0.363		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(808-810)Gaa>Aaa		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						118.0	116.0	117.0					4																	55569941		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55569941G>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.808G>A	4.37:g.55569941G>A	ENSP00000288135:p.Glu270Lys						p.E270K	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	5	905	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		270			Ig-like C2-type 3.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.808G>A	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940042	0.52972	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.20738	2.05;2.05	6.01	3.37	0.38596	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.319853	0.26341	N	0.024931	T	0.26048	0.0635	L	0.59436	1.845	0.39053	D	0.960361	B;P	0.41643	0.14;0.758	B;P	0.49999	0.044;0.628	T	0.12553	-1.0543	10	0.06365	T	0.9	.	10.1042	0.42524	0.0695:0.275:0.6555:0.0	.	270;270	P10721-2;P10721	.;KIT_HUMAN	K	270	ENSP00000288135:E270K;ENSP00000390987:E270K	ENSP00000288135:E270K	E	+	1	0	KIT	55264698	1.000000	0.71417	0.092000	0.20876	0.646000	0.38490	1.982000	0.40638	0.432000	0.26286	0.650000	0.86243	GAA		0.363	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			11	48	0	0	0	1	0	11	48				
PLPPR4	9890	broad.mit.edu	37	1	99771528	99771528	+	Silent	SNP	G	G	A	rs202142961		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:99771528G>A	ENST00000370185.3	+	7	1751	c.1254G>A	c.(1252-1254)ccG>ccA	p.P418P	LPPR4_ENST00000457765.1_Silent_p.P360P|LPPR4_ENST00000370184.1_Silent_p.P260P	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		418					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.P418P(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ATACCTTGCCGCGAGCCAATA	0.498																																						ENST00000370185.3																			2	Substitution - coding silent(2)	p.P418P(2)	large_intestine(1)|prostate(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(1252-1254)ccG>ccA									54.0	56.0	55.0					1																	99771528		2203	4300	6503	SO:0001819	synonymous_variant	9890						phosphatidate phosphatase activity	g.chr1:99771528G>A																												ENST00000370185.3:c.1254G>A	1.37:g.99771528G>A						LPPR4_ENST00000370184.1_Silent_p.P260P|LPPR4_ENST00000457765.1_Silent_p.P360P	p.P418P	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1751	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	418					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Silent	SNP	ENST00000370185.3	37	c.1254G>A	CCDS757.1																																																																																				0.498	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			25	57	0	0	0	1	0	25	57				
MMP25	64386	broad.mit.edu	37	16	3100516	3100516	+	Silent	SNP	C	C	T	rs146506930		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr16:3100516C>T	ENST00000336577.4	+	4	867	c.630C>T	c.(628-630)gaC>gaT	p.D210D	RP11-473M20.7_ENST00000573130.1_RNA|MMP25_ENST00000570755.1_3'UTR|RP11-473M20.7_ENST00000576250.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	219					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	CTCACTTTGACGATGAGGAGA	0.532																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	ENST00000336577.4																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						c.(628-630)gaC>gaT		matrix metallopeptidase 25		C		1,4393	2.1+/-5.4	0,1,2196	43.0	46.0	45.0		630	-6.1	0.9	16	dbSNP_134	45	0,8600		0,0,4300	no	coding-synonymous	MMP25	NM_022468.4		0,1,6496	TT,TC,CC		0.0,0.0228,0.0077		210/563	3100516	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	64386				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr16:3100516C>T	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.630C>T	16.37:g.3100516C>T						MMP25_ENST00000570755.1_3'UTR	p.D210D	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN			4	867	+			210					Q96F04|Q96TE2	Silent	SNP	ENST00000336577.4	37	c.630C>T	CCDS10492.1																																																																																				0.532	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468		17	83	0	0	0	1	0	17	83				
ERLIN2	11160	broad.mit.edu	37	8	37610986	37610986	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr8:37610986G>A	ENST00000276461.5	+	11	825	c.758G>A	c.(757-759)cGg>cAg	p.R253Q	ERLIN2_ENST00000519638.1_Missense_Mutation_p.R253Q	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	253	Interaction with ERLIN1.				cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TTTCTGGCCCGGGAGAAGGCA	0.498																																						ENST00000276461.5																			0				NS(1)|large_intestine(1)|lung(5)	7						c.(757-759)cGg>cAg		ER lipid raft associated 2							61.0	55.0	57.0					8																	37610986		2203	4300	6503	SO:0001583	missense	11160				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding	g.chr8:37610986G>A	AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.758G>A	8.37:g.37610986G>A	ENSP00000276461:p.Arg253Gln					ERLIN2_ENST00000519638.1_Missense_Mutation_p.R253Q	p.R253Q	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		11	825	+		Lung NSC(58;0.174)	253			Interaction with ERLIN1.		A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Missense_Mutation	SNP	ENST00000276461.5	37	c.758G>A	CCDS6095.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702959	0.88924	.	.	ENSG00000147475	ENST00000276461;ENST00000521644;ENST00000519638	T;T;T	0.67523	-0.27;-0.27;-0.27	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.79730	0.4496	M	0.65498	2.005	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	T	0.72523	-0.4267	10	0.17832	T	0.49	-18.6767	20.4135	0.99023	0.0:0.0:1.0:0.0	.	253	O94905	ERLN2_HUMAN	Q	253	ENSP00000276461:R253Q;ENSP00000429621:R253Q;ENSP00000428112:R253Q	ENSP00000276461:R253Q	R	+	2	0	ERLIN2	37730144	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.835000	0.97688	0.591000	0.81541	CGG		0.498	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	NM_007175		10	36	0	0	0	1	0	10	36				
RSPH10B	222967	broad.mit.edu	37	7	5967840	5967840	+	Missense_Mutation	SNP	C	C	T	rs140401316	byFrequency	TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr7:5967840C>T	ENST00000405415.1	-	19	2805	c.2419G>A	c.(2419-2421)Gaa>Aaa	p.E807K	RSPH10B_ENST00000441023.2_Missense_Mutation_p.E807K|RSPH10B_ENST00000539903.1_3'UTR|RSPH10B_ENST00000535104.1_5'UTR|RSPH10B_ENST00000404406.1_Missense_Mutation_p.E807K|RSPH10B_ENST00000337579.3_Missense_Mutation_p.E807K			P0C881	R10B1_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	807										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		GCTTCCAGTTCGTCATCTTCC	0.517																																						ENST00000405415.1																			0				breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11						c.(2419-2421)Gaa>Aaa		radial spoke head 10 homolog B (Chlamydomonas)		C	LYS/GLU	2,4402	2.1+/-5.4	0,2,2200	131.0	110.0	117.0		2419	3.9	0.5	7	dbSNP_134	117	0,8582		0,0,4291	no	missense	RSPH10B	NM_173565.3	56	0,2,6491	TT,TC,CC		0.0,0.0454,0.0154	benign	807/871	5967840	2,12984	2202	4291	6493	SO:0001583	missense	222967							g.chr7:5967840C>T		CCDS34598.1	7p22.2	2008-07-04			ENSG00000155026	ENSG00000155026			27362	protein-coding gene	gene with protein product						16507594	Standard	NM_173565		Approved		uc003sph.1	P0C881	OTTHUMG00000152378	ENST00000405415.1:c.2419G>A	7.37:g.5967840C>T	ENSP00000385443:p.Glu807Lys					RSPH10B_ENST00000337579.3_Missense_Mutation_p.E807K|RSPH10B_ENST00000539903.1_3'UTR|RSPH10B_ENST00000404406.1_Missense_Mutation_p.E807K|RSPH10B_ENST00000441023.2_Missense_Mutation_p.E807K|RSPH10B_ENST00000535104.1_5'UTR	p.E807K			B2RC85	R10B2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)	19	2805	-		Ovarian(82;0.0694)	807					A6NMW7|Q86ST9|Q8NE68	Missense_Mutation	SNP	ENST00000405415.1	37	c.2419G>A	CCDS34598.1	.	.	.	.	.	.	.	.	.	.	C	9.764	1.170870	0.21621	4.54E-4	0.0	ENSG00000155026	ENST00000405415;ENST00000404406;ENST00000337579;ENST00000441023	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	4.79	3.91	0.45181	.	1.705140	0.03939	N	0.286539	T	0.67449	0.2894	L	0.41961	1.31	0.80722	D	1	B	0.19073	0.033	B	0.13407	0.009	T	0.49437	-0.8940	10	0.56958	D	0.05	.	10.7931	0.46445	0.0:0.9091:0.0:0.0909	.	807	P0C881	R10B1_HUMAN	K	807	ENSP00000385443:E807K;ENSP00000384097:E807K;ENSP00000338556:E807K;ENSP00000400988:E807K	ENSP00000338556:E807K	E	-	1	0	RSPH10B	5934366	0.880000	0.30214	0.549000	0.28204	0.022000	0.10575	4.218000	0.58554	1.179000	0.42884	-0.170000	0.13304	GAA		0.517	RSPH10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325465.2	NM_173565		23	219	0	0	0	1	0	23	219				
ZNF345	25850	broad.mit.edu	37	19	37369178	37369178	+	Silent	SNP	C	C	T	rs200753949		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr19:37369178C>T	ENST00000529555.1	+	2	2234	c.1446C>T	c.(1444-1446)tgC>tgT	p.C482C	ZNF345_ENST00000589046.1_Silent_p.C482C|ZNF345_ENST00000420450.1_Silent_p.C482C|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	482					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAAACTCTGCGAATTGGAAA	0.343																																						ENST00000529555.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24						c.(1444-1446)tgC>tgT		zinc finger protein 345							59.0	65.0	63.0					19																	37369178		2203	4300	6503	SO:0001819	synonymous_variant	25850				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	g.chr19:37369178C>T	X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.1446C>T	19.37:g.37369178C>T						ZNF345_ENST00000589046.1_Silent_p.C482C|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Silent_p.C482C	p.C482C			Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		2	2234	+	Esophageal squamous(110;0.183)		482						Silent	SNP	ENST00000529555.1	37	c.1446C>T	CCDS12497.1																																																																																				0.343	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			36	76	0	0	0	1	0	36	76				
BSN	8927	broad.mit.edu	37	3	49695531	49695531	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr3:49695531C>T	ENST00000296452.4	+	5	8656	c.8542C>T	c.(8542-8544)Cgg>Tgg	p.R2848W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2848					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GACCCTGCAGCGGTCCCTGTC	0.627																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(8542-8544)Cgg>Tgg		bassoon presynaptic cytomatrix protein							43.0	47.0	46.0					3																	49695531		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49695531C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.8542C>T	3.37:g.49695531C>T	ENSP00000296452:p.Arg2848Trp						p.R2848W	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	8656	+			2848					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.8542C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	9.070	0.996561	0.19043	.	.	ENSG00000164061	ENST00000296452	T	0.33438	1.41	5.54	3.54	0.40534	.	0.000000	0.85682	D	0.000000	T	0.52517	0.1739	M	0.69358	2.11	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.58364	-0.7649	10	0.87932	D	0	-22.7029	13.8493	0.63487	0.4198:0.5802:0.0:0.0	.	2848	Q9UPA5	BSN_HUMAN	W	2848	ENSP00000296452:R2848W	ENSP00000296452:R2848W	R	+	1	2	BSN	49670535	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.996000	0.29719	1.314000	0.45095	0.561000	0.74099	CGG		0.627	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		12	65	0	0	0	1	0	12	65				
ZNF646	9726	broad.mit.edu	37	16	31091514	31091514	+	Missense_Mutation	SNP	G	G	A	rs200908817		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr16:31091514G>A	ENST00000394979.2	+	1	4292	c.3869G>A	c.(3868-3870)cGa>cAa	p.R1290Q	ZNF646_ENST00000300850.5_Missense_Mutation_p.R1290Q			O15015	ZN646_HUMAN	zinc finger protein 646	1290					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.R1290Q(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GGGGGCACCCGAAAGGCGACT	0.701																																						ENST00000394979.2																			1	Substitution - Missense(1)	p.R1290Q(1)	lung(1)	NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(3868-3870)cGa>cAa		zinc finger protein 646							20.0	22.0	22.0					16																	31091514		2192	4297	6489	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31091514G>A	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3869G>A	16.37:g.31091514G>A	ENSP00000378429:p.Arg1290Gln					ZNF646_ENST00000300850.5_Missense_Mutation_p.R1290Q	p.R1290Q			O15015	ZN646_HUMAN			1	4292	+			1290					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.3869G>A		.	.	.	.	.	.	.	.	.	.	G	8.850	0.944397	0.18356	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.09073	3.02;3.04	5.75	2.72	0.32119	.	.	.	.	.	T	0.04588	0.0125	N	0.13168	0.305	0.09310	N	1	B	0.27971	0.196	B	0.24155	0.051	T	0.45131	-0.9282	9	0.11485	T	0.65	-2.0582	9.8137	0.40840	0.2232:0.0:0.7768:0.0	.	1290	O15015-2	.	Q	1290	ENSP00000300850:R1290Q;ENSP00000378429:R1290Q	ENSP00000300850:R1290Q	R	+	2	0	ZNF646	30999015	0.001000	0.12720	0.035000	0.18076	0.298000	0.27526	0.983000	0.29552	0.341000	0.23771	0.561000	0.74099	CGA		0.701	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		12	74	0	0	0	1	0	12	74				
CPA1	1357	broad.mit.edu	37	7	130025070	130025070	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr7:130025070G>C	ENST00000011292.3	+	8	1021	c.871G>C	c.(871-873)Gac>Cac	p.D291H	CPA1_ENST00000484324.1_Missense_Mutation_p.D203H	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	291					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GTCCATTGTAGACTTTGTGAA	0.537																																						ENST00000011292.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21						c.(871-873)Gac>Cac		carboxypeptidase A1 (pancreatic)							157.0	141.0	147.0					7																	130025070		2203	4300	6503	SO:0001583	missense	1357				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130025070G>C		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.871G>C	7.37:g.130025070G>C	ENSP00000011292:p.Asp291His					CPA1_ENST00000484324.1_Missense_Mutation_p.D203H	p.D291H	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN			8	1021	+	Melanoma(18;0.0435)		291					A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP	ENST00000011292.3	37	c.871G>C	CCDS5820.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948145	0.53186	.	.	ENSG00000091704	ENST00000011292;ENST00000476062;ENST00000484324	T;T;T	0.03920	3.76;3.76;3.76	5.84	3.08	0.35506	Peptidase M14, carboxypeptidase A (2);	0.129326	0.64402	D	0.000001	T	0.24275	0.0588	M	0.92412	3.305	0.80722	D	1	D;D	0.71674	0.998;0.991	D;D	0.67725	0.936;0.953	T	0.03761	-1.1006	10	0.87932	D	0	.	9.9578	0.41678	0.2172:0.0:0.7828:0.0	.	291;203	P15085;C9JUF9	CBPA1_HUMAN;.	H	291;203;203	ENSP00000011292:D291H;ENSP00000419408:D203H;ENSP00000419497:D203H	ENSP00000011292:D291H	D	+	1	0	CPA1	129812306	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	2.223000	0.42936	0.822000	0.34565	0.561000	0.74099	GAC		0.537	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		16	52	0	0	0	1	0	16	52				
PALLD	23022	broad.mit.edu	37	4	169842828	169842828	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr4:169842828C>G	ENST00000505667.1	+	18	3167	c.2994C>G	c.(2992-2994)atC>atG	p.I998M	PALLD_ENST00000507735.1_Missense_Mutation_p.I494M|PALLD_ENST00000512127.1_Missense_Mutation_p.I599M|PALLD_ENST00000261509.6_Missense_Mutation_p.I981M|PALLD_ENST00000335742.7_Missense_Mutation_p.I823M|CBR4_ENST00000509108.1_Intron			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1205					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		ATGCCGGCATCTACACATGTA	0.537									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	ENST00000335742.7																			0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(2467-2469)atC>atG		palladin, cytoskeletal associated protein							111.0	88.0	95.0					4																	169842828		2203	4300	6503	SO:0001583	missense	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169842828C>G	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2994C>G	4.37:g.169842828C>G	ENSP00000425556:p.Ile998Met					PALLD_ENST00000507735.1_Missense_Mutation_p.I494M|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000261509.6_Missense_Mutation_p.I981M|PALLD_ENST00000505667.1_Missense_Mutation_p.I998M|PALLD_ENST00000512127.1_Missense_Mutation_p.I599M	p.I823M			Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	18	3826	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	1205			Interaction with ARGBP2, SPIN90, SRC and PFN1.|Interaction with EPS8 (By similarity).|Interaction with VASP (By similarity).|Pro-rich.		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.2469C>G	CCDS54818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.59|14.59	2.579940|2.579940	0.46006|0.46006	.|.	.|.	ENSG00000129116|ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000507735|ENST00000503290	T;T;T;T;T|.	0.67865|.	-0.29;-0.29;-0.29;-0.29;-0.29|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.32593|.	U|.	0.005890|.	T|T	0.51381|0.51381	0.1671|0.1671	N|N	0.21373|0.21373	0.66|0.66	0.80722|0.80722	D|D	1|1	D;P;D;D|.	0.58970|.	0.984;0.934;0.966;0.984|.	P;P;P;P|.	0.60541|.	0.837;0.787;0.787;0.876|.	T|T	0.46176|0.46176	-0.9210|-0.9210	10|5	0.49607|.	T|.	0.09|.	.|.	14.1763|14.1763	0.65544|0.65544	0.1497:0.8503:0.0:0.0|0.1497:0.8503:0.0:0.0	.|.	998;1205;599;981|.	B7ZMM5;Q8WX93;B3KTG2;B2RTX2|.	.;PALLD_HUMAN;.;.|.	M|V	981;823;998;599;494|35	ENSP00000261509:I981M;ENSP00000336735:I823M;ENSP00000425556:I998M;ENSP00000426947:I599M;ENSP00000424016:I494M|.	ENSP00000261509:I981M|.	I|L	+|+	3|1	3|2	PALLD|PALLD	170079403|170079403	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.127000|0.127000	0.20565|0.20565	2.587000|2.587000	0.46128|0.46128	2.566000|2.566000	0.86566|0.86566	0.555000|0.555000	0.69702|0.69702	ATC|CTA		0.537	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		5	40	0	0	0	1	0	5	40				
LCP2	3937	broad.mit.edu	37	5	169701311	169701311	+	Silent	SNP	C	C	T	rs371208606		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr5:169701311C>T	ENST00000046794.5	-	6	933	c.318G>A	c.(316-318)tcG>tcA	p.S106S		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	106					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TCACAAAGGACGACCAGCCCC	0.537																																						ENST00000046794.5																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(316-318)tcG>tcA		lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)		C		1,4163		0,1,2081	115.0	124.0	121.0		318	-9.9	0.7	5		121	0,8432		0,0,4216	no	coding-synonymous	LCP2	NM_005565.3		0,1,6297	TT,TC,CC		0.0,0.024,0.0079		106/534	169701311	1,12595	2082	4216	6298	SO:0001819	synonymous_variant	3937				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	g.chr5:169701311C>T		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"""SH2 domain containing"""	6529	protein-coding gene	gene with protein product	"""76 kDa tyrosine phosphoprotein"", ""SH2 domain-containing leukocyte protein of 76kD"""	601603	"""lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"""	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.318G>A	5.37:g.169701311C>T							p.S106S	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)	6	933	-	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	106					A8KA25|Q53XV4	Silent	SNP	ENST00000046794.5	37	c.318G>A	CCDS47339.1																																																																																				0.537	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565		6	11	0	0	0	1	0	6	11				
PDE3A	5139	broad.mit.edu	37	12	20833109	20833109	+	Silent	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr12:20833109G>A	ENST00000359062.3	+	16	3370	c.3330G>A	c.(3328-3330)tcG>tcA	p.S1110S	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1110					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.S1110S(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CCCCTCAGTCGCACTCTTCAG	0.483																																						ENST00000359062.3																			1	Substitution - coding silent(1)	p.S1110S(1)	urinary_tract(1)	NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(3328-3330)tcG>tcA		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						101.0	99.0	100.0					12																	20833109		2203	4300	6503	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20833109G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.3330G>A	12.37:g.20833109G>A						PDE3A_ENST00000544307.1_3'UTR	p.S1110S	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			16	3370	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	1110					O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.3330G>A	CCDS31754.1																																																																																				0.483	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			45	672	0	0	0	1	0	45	672				
RGS22	26166	broad.mit.edu	37	8	101051204	101051204	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr8:101051204G>C	ENST00000360863.6	-	14	2315	c.2121C>G	c.(2119-2121)ttC>ttG	p.F707L	RGS22_ENST00000523287.1_Missense_Mutation_p.F526L|RGS22_ENST00000523437.1_Missense_Mutation_p.F695L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	707					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTTCTTGGTAGAAAAGCTGAT	0.358																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(2119-2121)ttC>ttG		regulator of G-protein signaling 22							120.0	108.0	112.0					8																	101051204		1854	4099	5953	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101051204G>C	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2121C>G	8.37:g.101051204G>C	ENSP00000354109:p.Phe707Leu					RGS22_ENST00000523437.1_Missense_Mutation_p.F695L|RGS22_ENST00000523287.1_Missense_Mutation_p.F526L	p.F707L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		14	2315	-			707					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.2121C>G	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997718	0.74818	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.66280	-0.15;-0.2;-0.17	5.17	5.17	0.71159	Regulator of G protein signalling (1);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74336	0.3703	M	0.63843	1.955	0.30869	N	0.732682	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.83275	0.996;0.996;0.994	T	0.75892	-0.3157	10	0.87932	D	0	.	10.348	0.43918	0.1529:0.0:0.8471:0.0	.	695;707;526	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	L	707;695;526;695	ENSP00000354109:F707L;ENSP00000429382:F526L;ENSP00000428212:F695L	ENSP00000354109:F707L	F	-	3	2	RGS22	101120380	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.047000	0.57383	2.405000	0.81733	0.591000	0.81541	TTC		0.358	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		7	22	0	0	0	1	0	7	22				
TEX13A	56157	broad.mit.edu	37	X	104463774	104463774	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chrX:104463774G>A	ENST00000413579.1	-	5	1213	c.1102C>T	c.(1102-1104)Cag>Tag	p.Q368*	TEX13A_ENST00000372578.3_3'UTR|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_3'UTR|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	368							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GGTCTTTGCTGATGAGGTTCG	0.547																																						ENST00000413579.1																			0				large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						c.(1102-1104)Cag>Tag		testis expressed 13A							168.0	151.0	157.0					X																	104463774		2142	4245	6387	SO:0001587	stop_gained	56157					intracellular	zinc ion binding	g.chrX:104463774G>A	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.1102C>T	X.37:g.104463774G>A	ENSP00000399753:p.Gln368*					TEX13A_ENST00000372575.1_3'UTR|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_3'UTR	p.Q368*			Q9BXU3	TX13A_HUMAN			5	1213	-			368					B1B1G8|Q32NB6	Nonsense_Mutation	SNP	ENST00000413579.1	37	c.1102C>T		.	.	.	.	.	.	.	.	.	.	G	14.91	2.677316	0.47886	.	.	ENSG00000133149	ENST00000413579	.	.	.	3.41	-1.44	0.08856	.	1.334610	0.05477	N	0.554116	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	3.0074	0.06033	0.2509:0.0:0.293:0.4561	.	.	.	.	X	368	.	ENSP00000399753:Q368X	Q	-	1	0	TEX13A	104350430	0.004000	0.15560	0.000000	0.03702	0.024000	0.10985	-0.026000	0.12392	-0.435000	0.07264	0.436000	0.28706	CAG		0.547	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		34	53	0	0	0	1	0	34	53				
MYO3B	140469	broad.mit.edu	37	2	171240310	171240310	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr2:171240310C>G	ENST00000408978.4	+	12	1419	c.1276C>G	c.(1276-1278)Ctc>Gtc	p.L426V	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.L426V|MYO3B_ENST00000334231.6_Missense_Mutation_p.L435V	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	426	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CATGGTTACTCTCAGCAAAGA	0.478																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(1303-1305)Ctc>Gtc		myosin IIIB							123.0	115.0	118.0					2																	171240310		1988	4161	6149	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171240310C>G		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1276C>G	2.37:g.171240310C>G	ENSP00000386213:p.Leu426Val					MYO3B_ENST00000409044.3_Missense_Mutation_p.L426V|MYO3B_ENST00000408978.4_Missense_Mutation_p.L426V|MYO3B_ENST00000602629.1_3'UTR	p.L435V			Q8WXR4	MYO3B_HUMAN			12	1303	+			426			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.1303C>G	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298964	0.23650	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21	5.9	4.68	0.58851	Myosin head, motor domain (2);	0.131543	0.64402	D	0.000001	T	0.78997	0.4372	L	0.28400	0.85	0.27212	N	0.95988	B;B;B	0.16396	0.017;0.007;0.008	B;B;B	0.22601	0.039;0.023;0.04	T	0.63800	-0.6555	10	0.20519	T	0.43	.	10.5649	0.45167	0.0:0.0838:0.0:0.9162	.	426;426;426	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	V	426;426;425;435;435	ENSP00000386497:L426V;ENSP00000386213:L426V;ENSP00000446237:L435V;ENSP00000335100:L435V	ENSP00000314213:L425V	L	+	1	0	MYO3B	170948556	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.104000	0.64584	0.966000	0.38159	-0.355000	0.07637	CTC		0.478	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			14	59	0	0	0	1	0	14	59				
C10orf107	219621	broad.mit.edu	37	10	63519826	63519826	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr10:63519826G>C	ENST00000330194.2	+	5	603	c.298G>C	c.(298-300)Gag>Cag	p.E100Q		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	100								p.E100Q(1)		breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					GCAAGTGATAGAGGTTGTCAA	0.413																																						ENST00000330194.2																			1	Substitution - Missense(1)	p.E100Q(1)	lung(1)	breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8						c.(298-300)Gag>Cag		chromosome 10 open reading frame 107							108.0	102.0	104.0					10																	63519826		2203	4300	6503	SO:0001583	missense	219621							g.chr10:63519826G>C	BC041932	CCDS7262.1	10q21.3	2012-06-01			ENSG00000183346	ENSG00000183346			28678	protein-coding gene	gene with protein product						12477932	Standard	NM_173554		Approved	bA63A2.1, Em:AC022398.2, MGC44593	uc010qik.2	Q8IVU9	OTTHUMG00000018295	ENST00000330194.2:c.298G>C	10.37:g.63519826G>C	ENSP00000328698:p.Glu100Gln						p.E100Q	NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN			5	603	+	Prostate(12;0.016)		100					Q5T1B8	Missense_Mutation	SNP	ENST00000330194.2	37	c.298G>C	CCDS7262.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161886	0.78226	.	.	ENSG00000183346	ENST00000330194	.	.	.	5.58	5.58	0.84498	.	0.194962	0.40222	N	0.001151	T	0.80199	0.4579	M	0.78637	2.42	0.37172	D	0.903104	D	0.89917	1.0	D	0.87578	0.998	D	0.84478	0.0603	9	0.72032	D	0.01	-14.6356	17.3402	0.87293	0.0:0.0:1.0:0.0	.	100	Q8IVU9	CJ107_HUMAN	Q	100	.	ENSP00000328698:E100Q	E	+	1	0	C10orf107	63189832	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	6.010000	0.70753	2.616000	0.88540	0.655000	0.94253	GAG		0.413	C10orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048228.2	NM_173554		10	40	0	0	0	1	0	10	40				
LIM2	3982	broad.mit.edu	37	19	51885814	51885814	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr19:51885814C>G	ENST00000596399.1	-	3	230	c.183G>C	c.(181-183)tgG>tgC	p.W61C	LIM2_ENST00000221973.3_Missense_Mutation_p.W103C	NM_001161748.1	NP_001155220.1	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	61					cell-cell junction assembly (GO:0007043)|lens development in camera-type eye (GO:0002088)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		GGGTGGCATTCCAGTATGCTG	0.567																																						ENST00000221973.3																			0				endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(307-309)tgG>tgC		lens intrinsic membrane protein 2, 19kDa							95.0	84.0	88.0					19																	51885814		2203	4300	6503	SO:0001583	missense	3982				cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens	g.chr19:51885814C>G		CCDS12831.1, CCDS59415.1	19q13.4	2008-07-17	2002-08-29			ENSG00000105370			6610	protein-coding gene	gene with protein product		154045	"""lens intrinsic membrane protein 2 (19kD)"""			1606837	Standard	NM_030657		Approved	MP19, MP17	uc002pwl.2	P55344		ENST00000596399.1:c.183G>C	19.37:g.51885814C>G	ENSP00000472090:p.Trp61Cys					LIM2_ENST00000596399.1_Missense_Mutation_p.W61C	p.W103C	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)	3	351	-		all_neural(266;0.0529)	61					Q6B083|Q9BXD0|Q9HAR5	Missense_Mutation	SNP	ENST00000596399.1	37	c.309G>C	CCDS59415.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126200	0.56721	.	.	ENSG00000105370	ENST00000221973	D	0.88741	-2.42	5.17	5.17	0.71159	.	0.061936	0.64402	D	0.000001	D	0.94019	0.8084	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.99;0.999	D	0.94474	0.7687	10	0.66056	D	0.02	-18.1759	16.1547	0.81649	0.0:1.0:0.0:0.0	.	61;103	P55344;P55344-2	LMIP_HUMAN;.	C	103	ENSP00000221973:W103C	ENSP00000221973:W103C	W	-	3	0	LIM2	56577626	1.000000	0.71417	1.000000	0.80357	0.401000	0.30781	6.868000	0.75516	2.409000	0.81822	0.655000	0.94253	TGG		0.567	LIM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464247.1	NM_030657		10	88	0	0	0	1	0	10	88				
ALPK1	80216	broad.mit.edu	37	4	113352758	113352758	+	Silent	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr4:113352758C>T	ENST00000458497.1	+	11	2334	c.2055C>T	c.(2053-2055)gcC>gcT	p.A685A	ALPK1_ENST00000177648.9_Silent_p.A685A|ALPK1_ENST00000504176.2_Silent_p.A607A	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	685							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTTTCTTGGCCCCTGGTGCAG	0.493																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(2053-2055)gcC>gcT		alpha-kinase 1							52.0	56.0	55.0					4																	113352758		2203	4300	6503	SO:0001819	synonymous_variant	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113352758C>T	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2055C>T	4.37:g.113352758C>T						ALPK1_ENST00000177648.9_Silent_p.A685A|ALPK1_ENST00000504176.2_Silent_p.A607A	p.A685A	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	11	2334	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	685					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Silent	SNP	ENST00000458497.1	37	c.2055C>T	CCDS3697.1																																																																																				0.493	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		5	56	0	0	0	1	0	5	56				
CTNND2	1501	broad.mit.edu	37	5	11346677	11346677	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr5:11346677G>C	ENST00000304623.8	-	9	1624	c.1435C>G	c.(1435-1437)Cag>Gag	p.Q479E	CTNND2_ENST00000458100.2_Missense_Mutation_p.Q46E|CTNND2_ENST00000503622.1_Missense_Mutation_p.Q142E|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.Q479E|CTNND2_ENST00000511377.1_Missense_Mutation_p.Q388E	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	479					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCGGCATTCTGTGGGCCGTGC	0.617																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(1435-1437)Cag>Gag		catenin (cadherin-associated protein), delta 2							40.0	44.0	43.0					5																	11346677		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11346677G>C	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1435C>G	5.37:g.11346677G>C	ENSP00000307134:p.Gln479Glu					CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.Q46E|CTNND2_ENST00000503622.1_Missense_Mutation_p.Q142E|CTNND2_ENST00000511377.1_Missense_Mutation_p.Q388E|CTNND2_ENST00000359640.2_Missense_Mutation_p.Q479E	p.Q479E	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			9	1624	-			479					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1435C>G	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904322	0.52333	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.76448	-0.9;-0.99;-0.9;-1.02;-1.01	5.8	5.8	0.92144	.	0.417026	0.21118	N	0.079864	T	0.70954	0.3283	L	0.29908	0.895	0.40376	D	0.979396	B;B;B	0.22080	0.064;0.064;0.038	B;B;B	0.34489	0.184;0.184;0.014	T	0.63800	-0.6555	10	0.02654	T	1	-4.3655	20.1139	0.97919	0.0:0.0:1.0:0.0	.	142;46;479	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	E	479;479;388;46;142	ENSP00000307134:Q479E;ENSP00000352661:Q479E;ENSP00000426510:Q388E;ENSP00000391155:Q46E;ENSP00000426887:Q142E	ENSP00000307134:Q479E	Q	-	1	0	CTNND2	11399677	1.000000	0.71417	0.767000	0.31495	0.917000	0.54804	6.778000	0.75043	2.763000	0.94921	0.585000	0.79938	CAG		0.617	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		16	92	0	0	0	1	0	16	92				
KDM6B	23135	broad.mit.edu	37	17	7752972	7752972	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr17:7752972G>T	ENST00000448097.2	+	11	3697	c.3366G>T	c.(3364-3366)gaG>gaT	p.E1122D	KDM6B_ENST00000254846.5_Missense_Mutation_p.E1122D			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1122					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TCGCCTCTGAGGTGGAAGAGC	0.612																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(3364-3366)gaG>gaT		lysine (K)-specific demethylase 6B							19.0	22.0	21.0					17																	7752972		2192	4279	6471	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7752972G>T	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3366G>T	17.37:g.7752972G>T	ENSP00000412513:p.Glu1122Asp					KDM6B_ENST00000448097.2_Missense_Mutation_p.E1122D	p.E1122D	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	3755	+			1122					C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.3366G>T		.	.	.	.	.	.	.	.	.	.	G	16.38	3.108110	0.56291	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.43688	0.94;0.96	4.84	3.86	0.44501	.	0.000000	0.85682	D	0.000000	T	0.56046	0.1959	L	0.57536	1.79	0.43199	D	0.995049	D;D	0.76494	0.996;0.999	P;D	0.69142	0.883;0.962	T	0.54622	-0.8266	10	0.44086	T	0.13	-15.6669	11.7948	0.52093	0.0882:0.0:0.9117:0.0	.	1122;1122	O15054;O15054-1	KDM6B_HUMAN;.	D	1122	ENSP00000254846:E1122D;ENSP00000412513:E1122D	ENSP00000254846:E1122D	E	+	3	2	KDM6B	7693697	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.019000	0.49635	2.413000	0.81919	0.561000	0.74099	GAG		0.612	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		8	44	1	0	2.17888e-05	1	2.25725e-05	8	44				
TRMT44	152992	broad.mit.edu	37	4	8465768	8465768	+	Silent	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr4:8465768C>T	ENST00000389737.4	+	7	1260	c.1260C>T	c.(1258-1260)atC>atT	p.I420I	TRMT44_ENST00000513449.2_Silent_p.I179I	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	420					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										ATTGGTTAATCGGTAACCATT	0.413																																						ENST00000389737.4																			0											c.(1258-1260)atC>atT		tRNA methyltransferase 44 homolog (S. cerevisiae)							213.0	189.0	197.0					4																	8465768		2203	4300	6503	SO:0001819	synonymous_variant	152992							g.chr4:8465768C>T	AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"""tRNA methyltransferase 44 homolog (S. cerevisiae)"""	614309	"""chromosome 4 open reading frame 23"", ""methyltransferase like 19"""	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1260C>T	4.37:g.8465768C>T						TRMT44_ENST00000513449.2_Silent_p.I179I	p.I420I	NM_152544.2	NP_689757.2					7	1260	+								Q8NA95	Silent	SNP	ENST00000389737.4	37	c.1260C>T	CCDS3402.2																																																																																				0.413	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359197.2	NM_152544		18	85	0	0	0	1	0	18	85				
HSPG2	3339	broad.mit.edu	37	1	22178122	22178122	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:22178122C>T	ENST00000374695.3	-	55	7154	c.7075G>A	c.(7075-7077)Gat>Aat	p.D2359N	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2359	Ig-like C2-type 9.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CAGTTCAGATCCAGGGTCTGC	0.667																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(7075-7077)Gat>Aat		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						78.0	79.0	79.0					1																	22178122		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22178122C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.7075G>A	1.37:g.22178122C>T	ENSP00000363827:p.Asp2359Asn					HSPG2_ENST00000430507.1_3'UTR	p.D2359N	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	55	7154	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2359			Ig-like C2-type 9.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.7075G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189171	0.78789	.	.	ENSG00000142798	ENST00000374695	T	0.14766	2.48	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39544	N	0.001323	T	0.25121	0.0610	L	0.50333	1.59	0.41412	D	0.987747	P;D	0.54964	0.932;0.969	P;P	0.54431	0.752;0.752	T	0.00448	-1.1733	10	0.29301	T	0.29	.	16.9353	0.86202	0.0:1.0:0.0:0.0	.	299;2359	Q59EG0;P98160	.;PGBM_HUMAN	N	2359	ENSP00000363827:D2359N	ENSP00000363827:D2359N	D	-	1	0	HSPG2	22050709	1.000000	0.71417	1.000000	0.80357	0.382000	0.30200	5.997000	0.70646	2.598000	0.87819	0.462000	0.41574	GAT		0.667	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		22	137	0	0	0	1	0	22	137				
MAML1	9794	broad.mit.edu	37	5	179198178	179198178	+	Missense_Mutation	SNP	C	C	T	rs368957465		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr5:179198178C>T	ENST00000292599.3	+	4	2265	c.2002C>T	c.(2002-2004)Cgc>Tgc	p.R668C	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCATCTGACCCGCCCACCACC	0.517																																						ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(2002-2004)Cgc>Tgc		mastermind-like 1 (Drosophila)		C	CYS/ARG	0,4406		0,0,2203	88.0	84.0	86.0		2002	4.6	1.0	5		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	MAML1	NM_014757.4	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	668/1017	179198178	1,13005	2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179198178C>T	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2002C>T	5.37:g.179198178C>T	ENSP00000292599:p.Arg668Cys					MAML1_ENST00000503050.1_3'UTR	p.R668C	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	2265	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	668						Missense_Mutation	SNP	ENST00000292599.3	37	c.2002C>T	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282139	0.80692	0.0	1.16E-4	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.54071	0.59	5.47	4.56	0.56223	.	0.000000	0.64402	D	0.000002	T	0.70343	0.3213	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.975	T	0.73742	-0.3887	10	0.87932	D	0	-20.8984	13.9618	0.64185	0.1512:0.8488:0.0:0.0	.	705;668	Q59GH4;Q92585	.;MAML1_HUMAN	C	668;705	ENSP00000292599:R668C	ENSP00000292599:R668C	R	+	1	0	MAML1	179130784	0.993000	0.37304	1.000000	0.80357	0.991000	0.79684	3.050000	0.49877	2.561000	0.86390	0.655000	0.94253	CGC		0.517	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		25	68	0	0	0	1	0	25	68				
CACNA1I	8911	broad.mit.edu	37	22	40074056	40074056	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr22:40074056G>A	ENST00000402142.3	+	31	4998	c.4998G>A	c.(4996-4998)atG>atA	p.M1666I	CACNA1I_ENST00000407673.1_Missense_Mutation_p.M1631I|CACNA1I_ENST00000401624.1_Missense_Mutation_p.M1666I|CACNA1I_ENST00000400164.3_Missense_Mutation_p.M1631I|CACNA1I_ENST00000404898.1_Missense_Mutation_p.M1631I|CACNA1I_ENST00000336649.4_Missense_Mutation_p.M1672I	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1666					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	ACTTCGGCATGGCCTTCCTCA	0.627																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(5014-5016)atG>atA		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						43.0	45.0	45.0					22																	40074056		2072	4205	6277	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40074056G>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.4998G>A	22.37:g.40074056G>A	ENSP00000385019:p.Met1666Ile					CACNA1I_ENST00000401624.1_Missense_Mutation_p.M1666I|CACNA1I_ENST00000407673.1_Missense_Mutation_p.M1631I|CACNA1I_ENST00000404898.1_Missense_Mutation_p.M1631I|CACNA1I_ENST00000402142.3_Missense_Mutation_p.M1666I|CACNA1I_ENST00000400164.3_Missense_Mutation_p.M1631I	p.M1672I			Q9P0X4	CAC1I_HUMAN			34	5016	+	Melanoma(58;0.0749)		1666					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.5016G>A	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569999	0.65765	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95;-4.95;-4.95	4.25	4.25	0.50352	Ion transport (1);	0.257927	0.45867	D	0.000338	D	0.97729	0.9255	N	0.25060	0.705	0.80722	D	1	P;B;D;D	0.58268	0.954;0.225;0.982;0.969	D;B;D;D	0.70227	0.943;0.047;0.961;0.968	D	0.99342	1.0912	10	0.62326	D	0.03	.	17.526	0.87800	0.0:0.0:1.0:0.0	.	1631;1666;1631;1666	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	I	1666;1631;1666;1631;1672;1631	ENSP00000385019:M1666I;ENSP00000384093:M1631I;ENSP00000383887:M1666I;ENSP00000385680:M1631I;ENSP00000337829:M1672I;ENSP00000383028:M1631I	ENSP00000337829:M1672I	M	+	3	0	CACNA1I	38404002	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.713000	0.98740	2.291000	0.77112	0.448000	0.29417	ATG		0.627	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		3	10	0	0	0	1	0	3	10				
KIAA0319L	79932	broad.mit.edu	37	1	35900555	35900555	+	Silent	SNP	G	G	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:35900555G>C	ENST00000325722.3	-	21	3324	c.3090C>G	c.(3088-3090)ggC>ggG	p.G1030G	KIAA0319L_ENST00000373266.4_Silent_p.G467G	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	1030						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGGGTACAGAGCCATTCTGAC	0.607																																						ENST00000325722.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(3088-3090)ggC>ggG		KIAA0319-like							81.0	73.0	76.0					1																	35900555		2203	4300	6503	SO:0001819	synonymous_variant	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35900555G>C	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.3090C>G	1.37:g.35900555G>C						KIAA0319L_ENST00000373266.4_Silent_p.G467G	p.G1030G	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN			21	3324	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1030					B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Silent	SNP	ENST00000325722.3	37	c.3090C>G	CCDS390.1																																																																																				0.607	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		21	55	0	0	0	1	0	21	55				
PLCB3	5331	broad.mit.edu	37	11	64033670	64033670	+	Missense_Mutation	SNP	G	G	A	rs367729670		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr11:64033670G>A	ENST00000540288.1	+	27	3365	c.3262G>A	c.(3262-3264)Gag>Aag	p.E1088K	PLCB3_ENST00000325234.5_Missense_Mutation_p.E1021K|PLCB3_ENST00000279230.6_Missense_Mutation_p.E1088K	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1088					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AGAGATGAACGAGAGGTGAAA	0.562																																						ENST00000540288.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.(3262-3264)Gag>Aag		phospholipase C, beta 3 (phosphatidylinositol-specific)		G	LYS/GLU,LYS/GLU	0,4402		0,0,2201	106.0	110.0	108.0		3262,3061	4.1	0.4	11		108	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense	PLCB3	NM_000932.2,NM_001184883.1	56,56	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	1088/1235,1021/1168	64033670	1,12995	2201	4297	6498	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64033670G>A	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.3262G>A	11.37:g.64033670G>A	ENSP00000443631:p.Glu1088Lys					PLCB3_ENST00000279230.6_Missense_Mutation_p.E1088K|PLCB3_ENST00000325234.5_Missense_Mutation_p.E1021K	p.E1088K	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN			27	3365	+			1088					A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.3262G>A	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660276	0.47572	0.0	1.16E-4	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.62105	0.05;0.05;0.05	5.04	4.13	0.48395	PLC-beta, C-terminal (1);	2.247720	0.02285	N	0.069756	T	0.68915	0.3053	L	0.47716	1.5	0.51012	D	0.999902	P;P	0.43857	0.742;0.819	B;P	0.48982	0.231;0.597	T	0.50759	-0.8790	10	0.54805	T	0.06	.	10.7541	0.46225	0.0909:0.0:0.9091:0.0	.	1021;1088	G5E960;Q01970	.;PLCB3_HUMAN	K	1088;1088;1021	ENSP00000279230:E1088K;ENSP00000443631:E1088K;ENSP00000324660:E1021K	ENSP00000279230:E1088K	E	+	1	0	PLCB3	63790246	1.000000	0.71417	0.386000	0.26170	0.317000	0.28152	6.522000	0.73783	1.135000	0.42183	0.455000	0.32223	GAG		0.562	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			18	94	0	0	0	1	0	18	94				
PSD	5662	broad.mit.edu	37	10	104173914	104173914	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr10:104173914G>C	ENST00000020673.5	-	5	1691	c.1165C>G	c.(1165-1167)Cta>Gta	p.L389V	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_Missense_Mutation_p.L389V	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	389					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GTCCCAGGTAGAAAGGGCACA	0.602																																						ENST00000020673.5																			0				breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1165-1167)Cta>Gta		pleckstrin and Sec7 domain containing							53.0	55.0	54.0					10																	104173914		2203	4300	6503	SO:0001583	missense	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104173914G>C	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1165C>G	10.37:g.104173914G>C	ENSP00000020673:p.Leu389Val					PSD_ENST00000406432.1_Missense_Mutation_p.L389V	p.L389V	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	5	1691	-			389					B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.1165C>G	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022485	0.54683	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.17854	2.25;2.25	5.49	5.49	0.81192	.	0.386532	0.24461	N	0.038327	T	0.12050	0.0293	N	0.24115	0.695	0.26124	N	0.980513	P	0.38020	0.615	B	0.29267	0.1	T	0.17228	-1.0376	10	0.22109	T	0.4	.	19.3664	0.94464	0.0:0.0:1.0:0.0	.	389	A5PKW4	PSD1_HUMAN	V	389;292;389	ENSP00000020673:L389V;ENSP00000384830:L389V	ENSP00000020673:L389V	L	-	1	2	PSD	104163904	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	3.963000	0.56773	2.589000	0.87451	0.549000	0.68633	CTA		0.602	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			23	115	0	0	0	1	0	23	115				
SMAD2	4087	broad.mit.edu	37	18	45422948	45422948	+	Silent	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr18:45422948C>T	ENST00000402690.2	-	2	574	c.180G>A	c.(178-180)gaG>gaA	p.E60E	SMAD2_ENST00000591214.1_Silent_p.E60E|SMAD2_ENST00000356825.4_Silent_p.E60E|SMAD2_ENST00000586040.1_Silent_p.E60E|SMAD2_ENST00000262160.6_Silent_p.E60E	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	60	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						CTTTCTCAAGCTCATCTAATC	0.418																																						ENST00000402690.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						c.(178-180)gaG>gaA		SMAD family member 2							271.0	251.0	258.0					18																	45422948		2203	4300	6503	SO:0001819	synonymous_variant	4087				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:45422948C>T	U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.180G>A	18.37:g.45422948C>T						SMAD2_ENST00000356825.4_Silent_p.E60E|SMAD2_ENST00000586040.1_Silent_p.E60E|SMAD2_ENST00000591214.1_Silent_p.E60E|SMAD2_ENST00000262160.6_Silent_p.E60E	p.E60E	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN			2	574	-			60			MH1.			Silent	SNP	ENST00000402690.2	37	c.180G>A	CCDS11934.1																																																																																				0.418	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901		14	57	0	0	0	1	0	14	57				
FMN2	56776	broad.mit.edu	37	1	240370960	240370960	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:240370960G>A	ENST00000319653.9	+	5	3078	c.2848G>A	c.(2848-2850)Gga>Aga	p.G950R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	950	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCTCTACCCGGAGCGGCAAT	0.697																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2848-2850)Gga>Aga		formin 2							24.0	29.0	27.0					1																	240370960		2201	4297	6498	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370960G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2848G>A	1.37:g.240370960G>A	ENSP00000318884:p.Gly950Arg						p.G950R	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3078	+	Ovarian(103;0.127)	all_cancers(173;0.013)	950			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2848G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	7.961	0.747059	0.15710	.	.	ENSG00000155816	ENST00000319653	T	0.67865	-0.29	4.17	3.18	0.36537	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	.	.	.	.	T	0.80319	0.4601	M	0.91354	3.2	0.09310	N	1	D	0.63880	0.993	P	0.57502	0.822	T	0.70215	-0.4933	8	.	.	.	.	7.762	0.28957	0.1267:0.0:0.8733:0.0	.	950	Q9NZ56	FMN2_HUMAN	R	950	ENSP00000318884:G950R	.	G	+	1	0	FMN2	238437583	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.096000	0.11059	1.016000	0.39470	0.472000	0.43445	GGA		0.697	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		8	75	0	0	0	1	0	8	75				
ARSK	153642	broad.mit.edu	37	5	94922369	94922370	+	Frame_Shift_Ins	INS	-	-	A	rs369059088		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr5:94922369_94922370insA	ENST00000380009.4	+	5	1008_1009	c.803_804insA	c.(802-807)acaaaafs	p.TK268fs		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	268					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		GGAAGATTTACAAAAAAAGAAA	0.337																																						ENST00000380009.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16						c.(802-804)aaafs		arylsulfatase family, member K																																				SO:0001589	frameshift_variant	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94922369_94922370insA		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"""Arylsulfatase family"""	25239	protein-coding gene	gene with protein product		610011	"""arylsulfatase K"""			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.810dupA	5.37:g.94922376_94922376dupA	ENSP00000369346:p.Thr268fs						p.K268fs	NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	5	1008_1009	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	268					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Frame_Shift_Ins	INS	ENST00000380009.4	37	c.803_804insA	CCDS4073.1																																																																																				0.337	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		19	40						19	40	---	---	---	---
ANKRD20A1	84210	broad.mit.edu	37	9	67934791	67934794	+	Frame_Shift_Del	DEL	AAAG	AAAG	-	rs375030402|rs550666541	byFrequency	TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr9:67934791_67934794delAAAG	ENST00000377477.2	+	4	673_676	c.561_564delAAAG	c.(559-564)aaaaagfs	p.KK187fs	RNU6-368P_ENST00000391117.1_RNA	NM_032250.3	NP_115626.2	Q5TYW2	A20A1_HUMAN	ankyrin repeat domain 20 family, member A1	187						plasma membrane (GO:0005886)				kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						TTTTATTGAAAAAGAAAGCAAGTT	0.309														73	0.0145767	0.0	0.0086	5008	,	,		20736	0.003		0.0239	False		,,,				2504	0.0409					ENST00000377477.2																			0				kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						c.(559-564)aafs		ankyrin repeat domain 20 family, member A1																																				SO:0001589	frameshift_variant	84210							g.chr9:67934791_67934794delAAAG	AL136793	CCDS6620.1	9p12	2014-04-16	2005-08-23	2005-08-23	ENSG00000196774	ENSG00000260691		"""Ankyrin repeat domain containing"""	23665	protein-coding gene	gene with protein product			"""ankyrin repeat domain 20A"""	ANKRD20A			Standard	NM_032250		Approved	DKFZp434A171		Q5TYW2	OTTHUMG00000188594	ENST00000377477.2:c.561_564delAAAG	9.37:g.67934795_67934798delAAAG	ENSP00000366697:p.Lys187fs						p.KK187fs	NM_032250.3	NP_115626.2					4	673_676	+								Q9H0H6	Frame_Shift_Del	DEL	ENST00000377477.2	37	c.561_564delAAAG	CCDS6620.1																																																																																				0.309	ANKRD20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083800.1			3	6						3	6	---	---	---	---
SYK	6850	broad.mit.edu	37	9	93641064	93641066	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr9:93641064_93641066delCAT	ENST00000375754.4	+	11	1558_1560	c.1410_1412delCAT	c.(1408-1413)aacatc>aac	p.I472del	SYK_ENST00000375747.1_In_Frame_Del_p.I449del|SYK_ENST00000375751.4_In_Frame_Del_p.I449del|SYK_ENST00000375746.1_In_Frame_Del_p.I472del	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	472	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AGGATAAGAACATCATAGAACTG	0.433			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																	ENST00000375754.4				Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	"""ETV6, ITK"""		"""MDS, peripheral T-cell lymphoma"""		0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						c.(1408-1413)aac>aa		spleen tyrosine kinase																																				SO:0001651	inframe_deletion	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93641064_93641066delCAT	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1410_1412delCAT	9.37:g.93641067_93641069delCAT	ENSP00000364907:p.Ile472del					SYK_ENST00000375746.1_In_Frame_Del_p.NI470del|SYK_ENST00000375747.1_In_Frame_Del_p.NI447del|SYK_ENST00000375751.4_In_Frame_Del_p.NI447del	p.NI470del	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN			11	1558_1560	+			470			Protein kinase.			In_Frame_Del	DEL	ENST00000375754.4	37	c.1410_1412delCAT	CCDS6688.1																																																																																				0.433	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			14	104						14	104	---	---	---	---
