#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
CSMD2	114784	broad.mit.edu	37	1	34158623	34158623	+	Missense_Mutation	SNP	G	G	A	rs528971870		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr1:34158623G>A	ENST00000373380.1	-	4	798	c.578C>T	c.(577-579)tCg>tTg	p.S193L	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.S1320L			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1280	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1280L(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACCTGCCCCGACACCTCTCC	0.572																																						ENST00000373381.4																			1	Substitution - Missense(1)	p.S1280L(1)	lung(1)	NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(3958-3960)tCg>tTg		CUB and Sushi multiple domains 2							145.0	147.0	146.0					1																	34158623		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34158623G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.578C>T	1.37:g.34158623G>A	ENSP00000362478:p.Ser193Leu					CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.S193L	p.S1320L	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			25	4135	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1280			CUB 8.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.3959C>T		.	.	.	.	.	.	.	.	.	.	G	17.70	3.453536	0.63290	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.19938	2.11;2.11	5.52	2.66	0.31614	CUB (5);	0.325943	0.29892	N	0.010937	T	0.30792	0.0776	M	0.88842	2.985	0.22779	N	0.998749	B;B;P	0.45531	0.009;0.013;0.86	B;B;B	0.42851	0.013;0.022;0.4	T	0.29822	-0.9999	10	0.72032	D	0.01	.	7.8575	0.29491	0.3119:0.0:0.6881:0.0	.	193;1280;1320	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	L	1320;193	ENSP00000362479:S1320L;ENSP00000362478:S193L	ENSP00000241312:S1280L	S	-	2	0	CSMD2	33931210	0.994000	0.37717	0.885000	0.34714	0.896000	0.52359	3.503000	0.53340	0.711000	0.32018	-0.136000	0.14681	TCG		0.572	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		4	195	0	0	0	1	0	4	195				
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	lincRNA	SNP	C	C	T	rs367060	byFrequency	TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTCAGCCTTCCGCCGGGCCAG	0.672													.|||	253	0.0505192	0.115	0.0533	5008	,	,		65734	0.0119		0.0437	False		,,,				2504	0.0082					ENST00000412962.1																			0																																																			84809							g.chr1:16946434C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946434C>T														0	1085	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	27	0	0	0	1	0	5	27				
MAB21L3	126868	broad.mit.edu	37	1	116666711	116666711	+	Missense_Mutation	SNP	G	G	A	rs571602004	byFrequency	TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr1:116666711G>A	ENST00000369500.3	+	4	479	c.214G>A	c.(214-216)Gtc>Atc	p.V72I	MAB21L3_ENST00000464946.1_3'UTR	NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	72										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						TCAGTTCCTCGTCACAGTCCC	0.572													g|||	2	0.000399361	0.0	0.0	5008	,	,		20880	0.001		0.0	False		,,,				2504	0.001					ENST00000369500.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						c.(214-216)Gtc>Atc		mab-21-like 3 (C. elegans)							63.0	66.0	65.0					1																	116666711		2203	4300	6503	SO:0001583	missense	126868							g.chr1:116666711G>A	AK096035	CCDS886.1	1p13.1	2011-02-23	2011-02-23	2011-02-23	ENSG00000173212	ENSG00000173212			26787	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 161"""	C1orf161		14702039	Standard	NM_152367		Approved	FLJ38716	uc001egc.1	Q8N8X9	OTTHUMG00000012110	ENST00000369500.3:c.214G>A	1.37:g.116666711G>A	ENSP00000358512:p.Val72Ile					MAB21L3_ENST00000464946.1_3'UTR	p.V72I	NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN			4	479	+			72					Q5TDL7	Missense_Mutation	SNP	ENST00000369500.3	37	c.214G>A	CCDS886.1	.	.	.	.	.	.	.	.	.	.	g	0.681	-0.798351	0.02841	.	.	ENSG00000173212	ENST00000369500	T	0.10099	2.91	5.43	0.645	0.17782	.	0.721114	0.12806	N	0.437607	T	0.01353	0.0044	N	0.11651	0.15	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.47886	-0.9082	10	0.11794	T	0.64	-1.854	9.628	0.39763	0.4853:0.0:0.5147:0.0	.	72	Q8N8X9	MB213_HUMAN	I	72	ENSP00000358512:V72I	ENSP00000358512:V72I	V	+	1	0	MAB21L3	116468234	0.010000	0.17322	0.095000	0.20976	0.076000	0.17211	0.125000	0.15749	-0.002000	0.14469	-0.722000	0.03604	GTC		0.572	MAB21L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033486.1	NM_152367		19	77	0	0	0	1	0	19	77				
RBM12B	389677	broad.mit.edu	37	8	94748598	94748598	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr8:94748598G>A	ENST00000399300.2	-	3	254	c.41C>T	c.(40-42)gCg>gTg	p.A14V	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Missense_Mutation_p.A14V|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	14							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CACAGGCCCCGCAATAAAAGG	0.438																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(40-42)gCg>gTg		RNA binding motif protein 12B							53.0	54.0	54.0					8																	94748598		1873	4103	5976	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94748598G>A		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.41C>T	8.37:g.94748598G>A	ENSP00000382239:p.Ala14Val					RBM12B_ENST00000517700.1_Missense_Mutation_p.A14V|RBM12B_ENST00000520961.1_Intron	p.A14V	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	254	-	Breast(36;4.14e-07)		14					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.41C>T	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445710	0.84101	.	.	ENSG00000183808	ENST00000399300;ENST00000517700;ENST00000519109;ENST00000518597;ENST00000520560;ENST00000521947	T;T;T;T;T;T	0.18016	3.38;3.38;2.25;2.24;3.38;3.38	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000018	T	0.44891	0.1315	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.22382	-1.0218	10	0.59425	D	0.04	-12.4962	19.681	0.95964	0.0:0.0:1.0:0.0	.	14	Q8IXT5	RB12B_HUMAN	V	14	ENSP00000382239:A14V;ENSP00000427729:A14V;ENSP00000430474:A14V;ENSP00000428269:A14V;ENSP00000429807:A14V;ENSP00000430466:A14V	ENSP00000382239:A14V	A	-	2	0	RBM12B	94817774	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.476000	0.97823	2.744000	0.94065	0.655000	0.94253	GCG		0.438	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		4	111	0	0	0	1	0	4	111				
LDB3	11155	broad.mit.edu	37	10	88469757	88469757	+	Missense_Mutation	SNP	A	A	C			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr10:88469757A>C	ENST00000361373.4	+	8	1202	c.1181A>C	c.(1180-1182)aAg>aCg	p.K394T	LDB3_ENST00000429277.2_Missense_Mutation_p.K399T|LDB3_ENST00000352360.5_Missense_Mutation_p.K137T|LDB3_ENST00000458213.2_Missense_Mutation_p.K284T|LDB3_ENST00000263066.6_Missense_Mutation_p.K284T	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CCTGCACCCAAGCCCCGGGTT	0.682																																						ENST00000429277.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						c.(1195-1197)aAg>aCg		LIM domain binding 3							21.0	23.0	22.0					10																	88469757		2201	4295	6496	SO:0001583	missense	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88469757A>C	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.1181A>C	10.37:g.88469757A>C	ENSP00000355296:p.Lys394Thr					LDB3_ENST00000458213.2_Missense_Mutation_p.K284T|LDB3_ENST00000361373.4_Missense_Mutation_p.K394T|LDB3_ENST00000352360.5_Missense_Mutation_p.K137T|LDB3_ENST00000263066.6_Missense_Mutation_p.K284T	p.K399T	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN			9	1341	+			394						Missense_Mutation	SNP	ENST00000361373.4	37	c.1196A>C	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.031750	0.54790	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000352360;ENST00000263066;ENST00000361373	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	5.76	5.76	0.90799	.	0.000000	0.34025	N	0.004333	D	0.89767	0.6810	L	0.58101	1.795	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.991;0.999;0.998;0.989	D;D;D;D;D	0.80764	0.987;0.944;0.994;0.987;0.979	D	0.87198	0.2239	10	0.20046	T	0.44	.	14.641	0.68726	1.0:0.0:0.0:0.0	.	399;331;137;394;284	B4E3K3;F5H0C2;O75112-3;O75112;O75112-2	.;.;.;LDB3_HUMAN;.	T	331;399;284;137;284;394	ENSP00000401437:K399T;ENSP00000409148:K284T;ENSP00000263067:K137T;ENSP00000263066:K284T;ENSP00000355296:K394T	ENSP00000263066:K284T	K	+	2	0	LDB3	88459737	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	6.072000	0.71238	2.200000	0.70718	0.459000	0.35465	AAG		0.682	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			7	32	0	0	0	1	0	7	32				
TXNRD1	7296	broad.mit.edu	37	12	104682730	104682730	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr12:104682730G>A	ENST00000525566.1	+	4	350	c.326G>A	c.(325-327)gGa>gAa	p.G109E	TXNRD1_ENST00000524698.1_5'UTR|TXNRD1_ENST00000397736.2_5'Flank|TXNRD1_ENST00000378070.4_Missense_Mutation_p.G58E|TXNRD1_ENST00000388854.3_Missense_Mutation_p.G11E|TXNRD1_ENST00000542918.1_Missense_Mutation_p.G9E|TXNRD1_ENST00000540716.1_5'UTR|TXNRD1_ENST00000429002.2_Missense_Mutation_p.G109E|TXNRD1_ENST00000503506.2_5'UTR|TXNRD1_ENST00000526691.1_Missense_Mutation_p.G11E|TXNRD1_ENST00000526390.1_5'UTR|TXNRD1_ENST00000529546.1_5'UTR|TXNRD1_ENST00000354940.6_Intron	NM_001093771.2	NP_001087240.1	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	109	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	GCCCTGGAAGGAACGCTCTCG	0.607																																					Ovarian(139;555 1836 9186 9946 10884)	ENST00000526691.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						c.(31-33)gGa>gAa		thioredoxin reductase 1							105.0	111.0	109.0					12																	104682730		1903	4117	6020	SO:0001583	missense	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104682730G>A		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000525566.1:c.326G>A	12.37:g.104682730G>A	ENSP00000434516:p.Gly109Glu					TXNRD1_ENST00000429002.2_Missense_Mutation_p.G109E|TXNRD1_ENST00000524698.1_5'UTR|TXNRD1_ENST00000526390.1_5'UTR|TXNRD1_ENST00000529546.1_5'UTR|TXNRD1_ENST00000503506.2_5'UTR|TXNRD1_ENST00000542918.1_Missense_Mutation_p.G9E|TXNRD1_ENST00000388854.3_Missense_Mutation_p.G11E|TXNRD1_ENST00000525566.1_Missense_Mutation_p.G109E|TXNRD1_ENST00000540716.1_5'UTR|TXNRD1_ENST00000378070.4_Missense_Mutation_p.G58E|TXNRD1_ENST00000354940.6_Intron	p.G11E	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN			2	488	+			109					B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP	ENST00000525566.1	37	c.32G>A	CCDS53820.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.107001	0.00356	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000526691;ENST00000388854;ENST00000542918;ENST00000378070	T;T;T;T;T;T	0.26660	1.91;1.91;1.72;1.72;1.72;1.72	3.94	-0.3	0.12804	Glutaredoxin (2);Thioredoxin-like fold (2);	1.147430	0.06395	N	0.717750	T	0.07818	0.0196	N	0.03029	-0.43	0.25281	N	0.989431	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.32161	-0.9917	10	0.02654	T	1	4.9263	2.6593	0.05021	0.11:0.3945:0.3219:0.1737	.	9;11;109	B7Z2S5;Q16881-4;Q16881	.;.;TRXR1_HUMAN	E	109;109;11;11;9;58	ENSP00000434516:G109E;ENSP00000412045:G109E;ENSP00000435929:G11E;ENSP00000373506:G11E;ENSP00000440978:G9E;ENSP00000367310:G58E	ENSP00000367310:G58E	G	+	2	0	TXNRD1	103206860	0.000000	0.05858	0.057000	0.19452	0.034000	0.12701	0.087000	0.14958	0.049000	0.15920	-0.535000	0.04281	GGA		0.607	TXNRD1-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389960.1	NM_003330		46	126	0	0	0	1	0	46	126				
LOC101927209	101927209	broad.mit.edu	37	1	142713944	142713944	+	lincRNA	SNP	C	C	T	rs199960649		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr1:142713944C>T	ENST00000610091.1	-	0	1714																											TGATTACCTCCGAAGTTAAAG	0.308																																						ENST00000369381.2																			0																																																			101927209							g.chr1:142713944C>T																													1.37:g.142713944C>T														0	661	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.308	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			4	13	0	0	0	1	0	4	13				
DNAH1	25981	broad.mit.edu	37	3	52380763	52380763	+	Silent	SNP	C	C	T	rs375044038		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr3:52380763C>T	ENST00000420323.2	+	11	2193	c.1932C>T	c.(1930-1932)gaC>gaT	p.D644D		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	644	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCTGGGGTGACGACTTAATTA	0.602																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(1930-1932)gaC>gaT		dynein, axonemal, heavy chain 1							45.0	47.0	46.0					3																	52380763		2132	4245	6377	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52380763C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.1932C>T	3.37:g.52380763C>T							p.D644D	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	11	2193	+			644			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.1932C>T	CCDS46842.1																																																																																				0.602	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		5	31	0	0	0	1	0	5	31				
FBXO3	26273	broad.mit.edu	37	11	33772198	33772198	+	Silent	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr11:33772198G>A	ENST00000265651.3	-	8	837	c.819C>T	c.(817-819)caC>caT	p.H273H	FBXO3_ENST00000530401.1_Silent_p.H268H|FBXO3_ENST00000534136.1_Silent_p.H273H|FBXO3_ENST00000448981.2_Silent_p.H273H|FBXO3_ENST00000531080.1_De_novo_Start_OutOfFrame|FBXO3_ENST00000526785.1_Silent_p.H160H|FBXO3_ENST00000532057.1_De_novo_Start_OutOfFrame	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	273					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		ATTCTGGATCGTGAACATATC	0.333																																						ENST00000531080.1																			0				NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13								F-box protein 3							103.0	100.0	101.0					11																	33772198		2202	4298	6500	SO:0001819	synonymous_variant	26273				proteolysis	nucleus	ubiquitin-protein ligase activity	g.chr11:33772198G>A	AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"""F-boxes /  ""other"""""	13582	protein-coding gene	gene with protein product		609089	"""F-box only protein 3"""			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.819C>T	11.37:g.33772198G>A						FBXO3_ENST00000526785.1_Silent_p.H160H|FBXO3_ENST00000530401.1_Silent_p.H268H|FBXO3_ENST00000532057.1_De_novo_Start_OutOfFrame|FBXO3_ENST00000534136.1_Silent_p.H273H|FBXO3_ENST00000448981.2_Silent_p.H273H|FBXO3_ENST00000265651.3_Silent_p.H273H				Q9UK99	FBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)	0	384	-		Lung NSC(402;0.0804)						B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Translation_Start_Site	SNP	ENST00000265651.3	37		CCDS7887.1																																																																																				0.333	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	NM_012175		3	29	0	0	0	1	0	3	29				
NINL	22981	broad.mit.edu	37	20	25457599	25457599	+	Silent	SNP	C	C	T	rs144928426		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr20:25457599C>T	ENST00000278886.6	-	17	2401	c.2328G>A	c.(2326-2328)tcG>tcA	p.S776S	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	776					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCAGCTGCTCCGACCTCTGGC	0.692													C|||	1	0.000199681	0.0	0.0	5008	,	,		15562	0.001		0.0	False		,,,				2504	0.0					ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(2326-2328)tcG>tcA		ninein-like							27.0	25.0	26.0					20																	25457599		2202	4300	6502	SO:0001819	synonymous_variant	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25457599C>T		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.2328G>A	20.37:g.25457599C>T						NINL_ENST00000422516.1_Intron	p.S776S	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			17	2401	-			776					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	37	c.2328G>A	CCDS33452.1																																																																																				0.692	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		6	32	0	0	0	1	0	6	32				
MYL9	10398	broad.mit.edu	37	20	35177602	35177602	+	Missense_Mutation	SNP	G	G	A	rs571910074		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr20:35177602G>A	ENST00000279022.2	+	4	573	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA|MYL9_ENST00000346786.2_Missense_Mutation_p.V103M|RP5-977B1.11_ENST00000561134.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	157	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axon guidance (GO:0007411)|muscle contraction (GO:0006936)|platelet aggregation (GO:0070527)|regulation of muscle contraction (GO:0006937)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CTTCAACTACGTGGAGTTCAC	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		11809	0.0		0.0	False		,,,				2504	0.0					ENST00000279022.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8						c.(469-471)Gtg>Atg		myosin, light chain 9, regulatory							105.0	89.0	95.0					20																	35177602		2203	4300	6503	SO:0001583	missense	10398				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr20:35177602G>A	J02854	CCDS13276.1, CCDS13277.1	20q11.23	2013-01-10	2006-09-29		ENSG00000101335	ENSG00000101335		"""Myosins / Light chain"", ""EF-hand domain containing"""	15754	protein-coding gene	gene with protein product	"""myosin regulatory light chain 2, smooth muscle isoform"", ""myosin regulatory light chain 1"""	609905	"""myosin, light polypeptide 9, regulatory"""			2526655	Standard	NM_006097		Approved	MYRL2, MLC2, LC20, MRLC1	uc002xfl.2	P24844	OTTHUMG00000032387	ENST00000279022.2:c.469G>A	20.37:g.35177602G>A	ENSP00000279022:p.Val157Met					MYL9_ENST00000346786.2_Missense_Mutation_p.V103M|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.11_ENST00000561134.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA	p.V157M	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN			4	573	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	157			EF-hand 3.		E1P5T6|Q9BQL9|Q9BUF9|Q9H136	Missense_Mutation	SNP	ENST00000279022.2	37	c.469G>A	CCDS13276.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892534	0.52121	.	.	ENSG00000101335	ENST00000279022;ENST00000346786	T;T	0.78595	-1.19;-1.06	4.7	4.7	0.59300	EF-hand-like domain (1);	0.174679	0.50627	N	0.000106	T	0.72882	0.3516	L	0.52905	1.665	0.53688	D	0.999976	B;B	0.28439	0.212;0.053	B;B	0.14578	0.011;0.003	T	0.73338	-0.4014	10	0.51188	T	0.08	.	16.5838	0.84722	0.0:0.0:1.0:0.0	.	103;157	Q9BUF9;P24844	.;MYL9_HUMAN	M	157;103	ENSP00000279022:V157M;ENSP00000217313:V103M	ENSP00000279022:V157M	V	+	1	0	MYL9	34611016	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	4.666000	0.61554	2.317000	0.78254	0.655000	0.94253	GTG		0.607	MYL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079015.2	NM_006097		8	81	0	0	0	1	0	8	81				
KCND2	3751	broad.mit.edu	37	7	119915572	119915572	+	Missense_Mutation	SNP	C	C	T	rs370192333		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr7:119915572C>T	ENST00000331113.4	+	1	1851	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	296					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CCGAGTCTTCCGGGTCTTCAG	0.522																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(886-888)Cgg>Tgg		potassium voltage-gated channel, Shal-related subfamily, member 2							94.0	81.0	85.0					7																	119915572		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915572C>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.886C>T	7.37:g.119915572C>T	ENSP00000333496:p.Arg296Trp						p.R296W	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1851	+	all_neural(327;0.117)		296					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.886C>T	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425900	0.62733	.	.	ENSG00000184408	ENST00000331113	D	0.98822	-5.16	5.4	3.45	0.39498	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99501	0.9822	H	0.98802	4.335	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.97887	1.0295	9	.	.	.	.	14.8756	0.70491	0.2593:0.7407:0.0:0.0	.	296	Q9NZV8	KCND2_HUMAN	W	296	ENSP00000333496:R296W	.	R	+	1	2	KCND2	119702808	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.934000	0.40163	1.389000	0.46526	0.557000	0.71058	CGG		0.522	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		5	47	0	0	0	1	0	5	47				
EDNRA	1909	broad.mit.edu	37	4	148453782	148453782	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr4:148453782G>A	ENST00000324300.5	+	4	1188	c.673G>A	c.(673-675)Gtc>Atc	p.V225I	EDNRA_ENST00000511804.1_5'UTR|EDNRA_ENST00000506066.1_Intron|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000358556.4_Intron|EDNRA_ENST00000339690.5_3'UTR	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	225					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GATTGGCTTCGTCATGGTACC	0.423																																						ENST00000324300.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17						c.(673-675)Gtc>Atc		endothelin receptor type A	Bosentan(DB00559)						177.0	164.0	169.0					4																	148453782		2203	4300	6503	SO:0001583	missense	1909				activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity	g.chr4:148453782G>A	D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"""GPCR / Class A : Endothelin receptors"""	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.673G>A	4.37:g.148453782G>A	ENSP00000315011:p.Val225Ile					EDNRA_ENST00000511804.1_5'UTR|EDNRA_ENST00000358556.4_Intron|EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000506066.1_Intron	p.V225I	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN		GBM - Glioblastoma multiforme(119;0.154)	4	1188	+	all_hematologic(180;0.151)		225					B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Missense_Mutation	SNP	ENST00000324300.5	37	c.673G>A	CCDS3769.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315506	0.60524	.	.	ENSG00000151617	ENST00000324300	T	0.72051	-0.62	5.55	5.55	0.83447	GPCR, rhodopsin-like superfamily (1);	0.167475	0.52532	D	0.000064	T	0.58963	0.2159	N	0.25380	0.74	0.80722	D	1	P	0.42973	0.796	B	0.39217	0.294	T	0.65290	-0.6204	10	0.66056	D	0.02	-27.0128	13.7553	0.62933	0.0736:0.0:0.9264:0.0	.	225	P25101	EDNRA_HUMAN	I	225	ENSP00000315011:V225I	ENSP00000315011:V225I	V	+	1	0	EDNRA	148673232	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	5.165000	0.64959	2.604000	0.88044	0.557000	0.71058	GTC		0.423	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364635.1			16	98	0	0	0	1	0	16	98				
SCYL1	57410	broad.mit.edu	37	11	65304213	65304213	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr11:65304213C>T	ENST00000270176.5	+	13	1885	c.1808C>T	c.(1807-1809)aCg>aTg	p.T603M	SCYL1_ENST00000527009.1_Missense_Mutation_p.T460M|SCYL1_ENST00000525364.1_Missense_Mutation_p.T603M|SCYL1_ENST00000533862.1_Missense_Mutation_p.T603M|SCYL1_ENST00000420247.2_Missense_Mutation_p.T603M|SCYL1_ENST00000524944.1_Missense_Mutation_p.T603M|SCYL1_ENST00000279270.6_Missense_Mutation_p.T603M	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	603	Pro-rich.				peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						CAAAGACCCACGCCTGAAGGT	0.617																																						ENST00000524944.1																			0				ovary(1)|skin(1)	2						c.(1807-1809)aCg>aTg		SCY1-like 1 (S. cerevisiae)							99.0	113.0	109.0					11																	65304213		2117	4237	6354	SO:0001583	missense	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65304213C>T	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1808C>T	11.37:g.65304213C>T	ENSP00000270176:p.Thr603Met					SCYL1_ENST00000420247.2_Missense_Mutation_p.T603M|SCYL1_ENST00000270176.5_Missense_Mutation_p.T603M|SCYL1_ENST00000533862.1_Missense_Mutation_p.T603M|SCYL1_ENST00000527630.1_Missense_Mutation_p.T603M|SCYL1_ENST00000527009.1_Missense_Mutation_p.T460M|SCYL1_ENST00000525364.1_Missense_Mutation_p.T603M|SCYL1_ENST00000279270.6_Missense_Mutation_p.T603M	p.T603M			Q96KG9	NTKL_HUMAN			13	1841	+			603			Pro-rich.		A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	ENST00000270176.5	37	c.1808C>T	CCDS41672.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.60|14.60	2.585016|2.585016	0.46110|0.46110	.|.	.|.	ENSG00000142186|ENSG00000142186	ENST00000417543|ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009;ENST00000528545	.|T;T;T;T;T;T;T;T;T	.|0.32515	.|2.23;2.3;2.25;2.23;1.53;2.23;2.23;2.23;1.45	4.95|4.95	-3.67|-3.67	0.04476|0.04476	.|.	.|0.889895	.|0.09574	.|N	.|0.783802	T|T	0.23886|0.23886	0.0578|0.0578	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	.|P;B;D;P;P	.|0.54964	.|0.661;0.033;0.969;0.541;0.661	.|B;B;B;B;B	.|0.42882	.|0.062;0.021;0.401;0.186;0.096	T|T	0.27020|0.27020	-1.0086|-1.0086	6|10	0.54805|0.46703	T|T	0.06|0.11	0.0634|0.0634	10.8305|10.8305	0.46656|0.46656	0.0:0.4393:0.0:0.5607|0.0:0.4393:0.0:0.5607	.|.	.|603;603;603;603;603	.|E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.|.;.;.;.;NTKL_HUMAN	C|M	288|603;603;603;603;603;603;603;603;460;76	.|ENSP00000270176:T603M;ENSP00000431635:T603M;ENSP00000408192:T603M;ENSP00000437254:T603M;ENSP00000433450:T603M;ENSP00000279270:T603M;ENSP00000432175:T603M;ENSP00000436993:T460M;ENSP00000433604:T76M	ENSP00000393598:R288C|ENSP00000270176:T603M	R|T	+|+	1|2	0|0	SCYL1|SCYL1	65060789|65060789	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-0.309000|-0.309000	0.08145|0.08145	-0.733000|-0.733000	0.04850|0.04850	-0.379000|-0.379000	0.06801|0.06801	CGC|ACG		0.617	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		17	86	0	0	0	1	0	17	86				
AQP6	363	broad.mit.edu	37	12	50367302	50367302	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr12:50367302G>T	ENST00000315520.5	+	1	683	c.346G>T	c.(346-348)Gct>Tct	p.A116S	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	116					anion transport (GO:0006820)|excretion (GO:0007588)|odontogenesis (GO:0042476)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	integral component of plasma membrane (GO:0005887)|transport vesicle membrane (GO:0030658)	anion channel activity (GO:0005253)|water channel activity (GO:0015250)			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						GGTGGGGGCTGCTCTGCTTTA	0.672																																						ENST00000315520.5																			0				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						c.(346-348)Gct>Tct		aquaporin 6, kidney specific							20.0	18.0	18.0					12																	50367302		2201	4299	6500	SO:0001583	missense	363				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity	g.chr12:50367302G>T	AL137716	CCDS31798.1	12q13	2005-09-20			ENSG00000086159	ENSG00000086159		"""Ion channels / Aquaporins"""	639	protein-coding gene	gene with protein product		601383		AQP2L		8812490	Standard	XM_006719375		Approved		uc001rvr.1	Q13520	OTTHUMG00000133548	ENST00000315520.5:c.346G>T	12.37:g.50367302G>T	ENSP00000320247:p.Ala116Ser					AQP6_ENST00000551733.1_Intron	p.A116S	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN			1	683	+			116						Missense_Mutation	SNP	ENST00000315520.5	37	c.346G>T	CCDS31798.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516637	0.64634	.	.	ENSG00000086159	ENST00000315520	D	0.86627	-2.15	4.57	3.67	0.42095	Aquaporin-like (2);	0.111836	0.36167	N	0.002757	D	0.89322	0.6682	M	0.86651	2.83	0.48135	D	0.999598	B	0.21905	0.062	B	0.31245	0.126	D	0.87835	0.2647	10	0.62326	D	0.03	0.0191	13.1926	0.59719	0.0:0.0:0.8389:0.1611	.	116	Q13520	AQP6_HUMAN	S	116	ENSP00000320247:A116S	ENSP00000320247:A116S	A	+	1	0	AQP6	48653569	0.998000	0.40836	0.994000	0.49952	0.761000	0.43186	6.333000	0.72939	1.035000	0.39972	0.491000	0.48974	GCT		0.672	AQP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257528.2	NM_001652, NM_053286		5	40	1	0	0.000602214	1	0.000625156	5	40				
KIF26B	55083	broad.mit.edu	37	1	245862231	245862231	+	Missense_Mutation	SNP	C	C	T	rs367632094		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr1:245862231C>T	ENST00000407071.2	+	14	6510	c.6070C>T	c.(6070-6072)Cgc>Tgc	p.R2024C	KIF26B_ENST00000366518.4_Missense_Mutation_p.R1643C	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2024					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCTGGAACACCGCCAGCAGAG	0.567																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4927-4929)Cgc>Tgc		kinesin family member 26B		C	CYS/ARG	0,4170		0,0,2085	74.0	79.0	77.0		6070	5.8	1.0	1		77	1,8421		0,1,4210	no	missense	KIF26B	NM_018012.3	180	0,1,6295	TT,TC,CC		0.0119,0.0,0.0079	probably-damaging	2024/2109	245862231	1,12591	2085	4211	6296	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245862231C>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.6070C>T	1.37:g.245862231C>T	ENSP00000385545:p.Arg2024Cys					KIF26B_ENST00000407071.2_Missense_Mutation_p.R2024C	p.R1643C			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		11	5031	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		2024					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.4927C>T	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355682	0.61293	0.0	1.19E-4	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	D;D	0.87256	-2.23;-2.22	5.82	5.82	0.92795	.	.	.	.	.	D	0.93462	0.7914	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93435	0.6789	9	0.87932	D	0	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	2024	Q2KJY2	KI26B_HUMAN	C	2024;1643;1640	ENSP00000385545:R2024C;ENSP00000355475:R1643C	ENSP00000355475:R1643C	R	+	1	0	KIF26B	243928854	0.998000	0.40836	0.990000	0.47175	0.600000	0.36913	3.788000	0.55446	2.752000	0.94435	0.655000	0.94253	CGC		0.567	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		7	70	0	0	0	1	0	7	70				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	23	1	0	0.004672	1	0.00475933	3	23				
KIFAP3	22920	broad.mit.edu	37	1	169890826	169890826	+	Silent	SNP	A	A	G			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr1:169890826A>G	ENST00000361580.2	-	20	2597	c.2370T>C	c.(2368-2370)taT>taC	p.Y790Y	KIFAP3_ENST00000540905.1_Silent_p.Y492Y|KIFAP3_ENST00000538366.1_Silent_p.Y712Y|KIFAP3_ENST00000367765.1_Silent_p.Y750Y|KIFAP3_ENST00000367767.1_Silent_p.Y746Y	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	790					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATCAAGATCCATAGCCATAGT	0.433																																						ENST00000367765.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(2248-2250)taT>taC		kinesin-associated protein 3							113.0	96.0	102.0					1																	169890826		2203	4300	6503	SO:0001819	synonymous_variant	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169890826A>G	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.2370T>C	1.37:g.169890826A>G						KIFAP3_ENST00000538366.1_Silent_p.Y712Y|KIFAP3_ENST00000540905.1_Silent_p.Y492Y|KIFAP3_ENST00000361580.2_Silent_p.Y790Y|KIFAP3_ENST00000367767.1_Silent_p.Y746Y	p.Y750Y	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN			20	3751	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		790					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Silent	SNP	ENST00000361580.2	37	c.2250T>C	CCDS1288.1																																																																																				0.433	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		10	22	0	0	0	1	0	10	22				
ABCA7	10347	broad.mit.edu	37	19	1043229	1043229	+	Missense_Mutation	SNP	G	G	A	rs143033789		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr19:1043229G>A	ENST00000263094.6	+	8	1000	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	ABCA7_ENST00000433129.1_Missense_Mutation_p.A257T|ABCA7_ENST00000435683.2_Missense_Mutation_p.A119T	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	257					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGAATCCGCCCTGCCAGA	0.642																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(769-771)Gcc>Acc		ATP-binding cassette, sub-family A (ABC1), member 7		G	THR/ALA	1,4403	2.1+/-5.4	0,1,2201	50.0	59.0	56.0		769	-5.2	0.0	19	dbSNP_134	56	0,8596		0,0,4298	no	missense	ABCA7	NM_019112.3	58	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	benign	257/2147	1043229	1,12999	2202	4298	6500	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1043229G>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.769G>A	19.37:g.1043229G>A	ENSP00000263094:p.Ala257Thr					ABCA7_ENST00000435683.2_Missense_Mutation_p.A119T|ABCA7_ENST00000433129.1_Missense_Mutation_p.A257T	p.A257T	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1000	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	257					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.769G>A	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	6.799	0.516408	0.12944	2.27E-4	0.0	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.85171	-1.95;-1.95	4.1	-5.25	0.02781	.	.	.	.	.	T	0.70771	0.3262	L	0.51422	1.61	0.09310	N	1	B;B	0.19706	0.038;0.007	B;B	0.15870	0.014;0.006	T	0.56583	-0.7955	9	0.09338	T	0.73	.	0.9199	0.01312	0.3009:0.2853:0.2691:0.1447	.	119;257	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	T	257	ENSP00000263094:A257T;ENSP00000414062:A257T	ENSP00000263094:A257T	A	+	1	0	ABCA7	994229	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.115000	0.03289	-0.287000	0.09064	0.313000	0.20887	GCC		0.642	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		8	141	0	0	0	1	0	8	141				
TTN	7273	broad.mit.edu	37	2	179391793	179391793	+	Silent	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr2:179391793C>T	ENST00000591111.1	-	313	103223	c.102999G>A	c.(102997-102999)ggG>ggA	p.G34333G	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.G27101G|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Silent_p.G33406G|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000359218.5_Silent_p.G27034G|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000460472.2_Silent_p.G26909G|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Silent_p.G35974G|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000585625.1_RNA			Q8WZ42	TITIN_HUMAN	titin	34333	Ig-like 152.				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)			CAAATTCATTCCCTAAACTCA	0.423																																						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.(107920-107922)ggG>ggA		titin							166.0	151.0	156.0					2																	179391793		1927	4136	6063	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179391793C>T	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.102999G>A	2.37:g.179391793C>T						TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Silent_p.G34333G|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Silent_p.G26909G|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000359218.5_Silent_p.G27034G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000342175.6_Silent_p.G27101G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000342992.6_Silent_p.G33406G|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA	p.G35974G	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)		363	108146	-			34333					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.107922G>A																																																																																					0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	35	0	0	0	1	0	3	35				
STRIP2	57464	broad.mit.edu	37	7	129083914	129083914	+	Silent	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr7:129083914C>T	ENST00000249344.2	+	3	289	c.249C>T	c.(247-249)tgC>tgT	p.C83C	STRIP2_ENST00000435494.2_Silent_p.C83C	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	83					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											ACAGGAGGTGCTTTGAAGAAG	0.388																																						ENST00000249344.2																			0											c.(247-249)tgC>tgT		striatin interacting protein 2							126.0	114.0	118.0					7																	129083914		2203	4300	6503	SO:0001819	synonymous_variant	57464							g.chr7:129083914C>T	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.249C>T	7.37:g.129083914C>T						STRIP2_ENST00000435494.2_Silent_p.C83C	p.C83C	NM_020704.2	NP_065755.1					3	289	+								Q8WUZ4	Silent	SNP	ENST00000249344.2	37	c.249C>T	CCDS34752.1																																																																																				0.388	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		8	46	0	0	0	1	0	8	46				
TXNDC11	51061	broad.mit.edu	37	16	11785384	11785384	+	Silent	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr16:11785384C>T	ENST00000356957.3	-	9	1850	c.1743G>A	c.(1741-1743)gaG>gaA	p.E581E	TXNDC11_ENST00000570917.1_5'Flank|TXNDC11_ENST00000283033.5_Silent_p.E554E			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	581					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GATACCTGTTCTCCTCAATGT	0.458																																						ENST00000356957.3																			0				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1741-1743)gaG>gaA		thioredoxin domain containing 11							137.0	132.0	134.0					16																	11785384		2197	4300	6497	SO:0001819	synonymous_variant	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11785384C>T	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1743G>A	16.37:g.11785384C>T						TXNDC11_ENST00000283033.5_Silent_p.E554E	p.E581E			Q6PKC3	TXD11_HUMAN			9	1850	-			581					O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Silent	SNP	ENST00000356957.3	37	c.1743G>A																																																																																					0.458	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		18	131	0	0	0	1	0	18	131				
FCRLA	84824	broad.mit.edu	37	1	161681058	161681058	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr1:161681058G>A	ENST00000236938.6	+	3	586	c.344G>A	c.(343-345)cGc>cAc	p.R115H	FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000540926.1_Missense_Mutation_p.R104H|FCRLA_ENST00000349527.4_Missense_Mutation_p.R98H|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000367953.3_Missense_Mutation_p.R104H|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000367959.2_Missense_Mutation_p.R121H|FCRLA_ENST00000367949.2_Intron	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	98	Ig-like C2-type 1.				cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTGGTTCTGCGCTGCCAGGCC	0.597																																						ENST00000540926.1																			0				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34						c.(310-312)cGc>cAc		Fc receptor-like A							40.0	44.0	43.0					1																	161681058		2203	4300	6503	SO:0001583	missense	84824				cell differentiation	cytoplasm|extracellular region		g.chr1:161681058G>A	AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.344G>A	1.37:g.161681058G>A	ENSP00000236938:p.Arg115His					FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000367953.3_Missense_Mutation_p.R104H|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000367959.2_Missense_Mutation_p.R121H|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000349527.4_Missense_Mutation_p.R98H|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000236938.6_Missense_Mutation_p.R115H|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367950.1_Intron	p.R104H			Q7L513	FCRLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00301)		4	604	+	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		98			Ig-like C2-type 1.		A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Missense_Mutation	SNP	ENST00000236938.6	37	c.311G>A	CCDS30926.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281734	0.40394	.	.	ENSG00000132185	ENST00000236938;ENST00000367959;ENST00000540926;ENST00000349527;ENST00000367953	T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79	4.99	-3.2	0.05156	.	0.764210	0.11670	N	0.540934	T	0.03564	0.0102	L	0.53249	1.67	0.25688	N	0.985721	B;B	0.25719	0.132;0.085	B;B	0.20577	0.029;0.03	T	0.37174	-0.9717	10	0.51188	T	0.08	.	10.8329	0.46671	0.744:0.0:0.256:0.0	.	121;115	A6NC03;Q7L513-9	.;.	H	115;121;104;98;104	ENSP00000236938:R115H;ENSP00000356936:R121H;ENSP00000446380:R104H;ENSP00000294798:R98H;ENSP00000356930:R104H	ENSP00000236938:R115H	R	+	2	0	FCRLA	159947682	0.998000	0.40836	0.867000	0.34043	0.895000	0.52256	0.458000	0.21892	-0.505000	0.06568	-0.136000	0.14681	CGC		0.597	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738		4	40	0	0	0	1	0	4	40				
MON2	23041	broad.mit.edu	37	12	62960205	62960205	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr12:62960205A>G	ENST00000393632.2	+	29	4689	c.4298A>G	c.(4297-4299)gAg>gGg	p.E1433G	MON2_ENST00000280379.6_Missense_Mutation_p.E1434G|MON2_ENST00000393630.3_Missense_Mutation_p.E1434G|MON2_ENST00000552738.1_Missense_Mutation_p.E1404G|MON2_ENST00000546600.1_Missense_Mutation_p.E1433G|MON2_ENST00000393629.2_Missense_Mutation_p.E1427G	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1433					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GTGGTGAATGAGAAAGTGCTC	0.338																																						ENST00000393630.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.(4300-4302)gAg>gGg		MON2 homolog (S. cerevisiae)							115.0	124.0	121.0					12																	62960205		2203	4300	6503	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62960205A>G		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.4298A>G	12.37:g.62960205A>G	ENSP00000377252:p.Glu1433Gly					MON2_ENST00000546600.1_Missense_Mutation_p.E1433G|MON2_ENST00000393632.2_Missense_Mutation_p.E1433G|MON2_ENST00000280379.6_Missense_Mutation_p.E1434G|MON2_ENST00000393629.2_Missense_Mutation_p.E1427G|MON2_ENST00000552738.1_Missense_Mutation_p.E1404G	p.E1434G	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	30	4692	+			1434					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.4301A>G	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	A	12.01	1.809722	0.31961	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629	T;T;T;T;T;T	0.55234	0.54;0.54;0.53;0.54;0.54;0.55	5.05	5.05	0.67936	.	0.119958	0.56097	D	0.000032	T	0.29223	0.0727	N	0.04203	-0.255	0.80722	D	1	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.08055	0.001;0.002;0.002;0.002;0.003	T	0.13150	-1.0520	9	.	.	.	-13.2954	13.6581	0.62349	1.0:0.0:0.0:0.0	.	1427;1404;1433;302;1433	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.;.	G	1433;1434;1434;1433;1404;1427	ENSP00000377252:E1433G;ENSP00000377250:E1434G;ENSP00000280379:E1434G;ENSP00000447407:E1433G;ENSP00000449215:E1404G;ENSP00000377249:E1427G	.	E	+	2	0	MON2	61246472	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.860000	0.92272	2.011000	0.59026	0.533000	0.62120	GAG		0.338	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		10	78	0	0	0	1	0	10	78				
DLK1	8788	broad.mit.edu	37	14	101200631	101200631	+	Missense_Mutation	SNP	G	G	A	rs370986375		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr14:101200631G>A	ENST00000341267.4	+	5	792	c.550G>A	c.(550-552)Gtc>Atc	p.V184I	DLK1_ENST00000331224.6_Missense_Mutation_p.V184I	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	184	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				GAACGACGGCGTCTGCACTGA	0.667																																						ENST00000341267.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29						c.(550-552)Gtc>Atc		delta-like 1 homolog (Drosophila)		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	62.0	66.0	65.0		550	1.6	1.0	14		65	0,8600		0,0,4300	no	missense	DLK1	NM_003836.5	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	184/384	101200631	1,13005	2203	4300	6503	SO:0001583	missense	8788				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		g.chr14:101200631G>A	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"""delta-like homolog (Drosophila)"""			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.550G>A	14.37:g.101200631G>A	ENSP00000340292:p.Val184Ile					DLK1_ENST00000331224.6_Missense_Mutation_p.V184I	p.V184I	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN			5	792	+		Melanoma(154;0.155)	184			EGF-like 5.		P15803|Q96DW5	Missense_Mutation	SNP	ENST00000341267.4	37	c.550G>A	CCDS9963.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903178	0.33628	2.27E-4	0.0	ENSG00000185559	ENST00000341267;ENST00000331224	T;T	0.66280	-0.2;-0.2	4.58	1.58	0.23477	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.507880	0.19739	N	0.107171	T	0.37571	0.1008	N	0.10874	0.06	0.58432	D	0.999999	B;B	0.21905	0.062;0.043	B;B	0.19391	0.014;0.025	T	0.06972	-1.0797	10	0.33940	T	0.23	.	7.4074	0.26998	0.5646:0.0:0.4354:0.0	.	184;184	P80370-2;P80370	.;DLK1_HUMAN	I	184	ENSP00000340292:V184I;ENSP00000331081:V184I	ENSP00000331081:V184I	V	+	1	0	DLK1	100270384	0.997000	0.39634	0.954000	0.39281	0.778000	0.44026	3.207000	0.51106	0.321000	0.23259	0.491000	0.48974	GTC		0.667	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			4	117	0	0	0	1	0	4	117				
RGS3	5998	broad.mit.edu	37	9	116246482	116246482	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr9:116246482G>A	ENST00000374140.2	+	7	799	c.590G>A	c.(589-591)aGa>aAa	p.R197K	RGS3_ENST00000317613.6_Missense_Mutation_p.R85K|RGS3_ENST00000350696.5_Missense_Mutation_p.R197K	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	197	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCAGACTGCAGAGACCCGGCT	0.483																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(589-591)aGa>aAa		regulator of G-protein signaling 3							81.0	79.0	79.0					9																	116246482		2203	4300	6503	SO:0001583	missense	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116246482G>A	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.590G>A	9.37:g.116246482G>A	ENSP00000363255:p.Arg197Lys					RGS3_ENST00000350696.5_Missense_Mutation_p.R197K|RGS3_ENST00000317613.6_Missense_Mutation_p.R85K	p.R197K	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			7	799	+			197			C2.		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.590G>A	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	8.864	0.947664	0.18356	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000317613	T;T;T	0.76578	-1.03;-1.03;-0.35	4.99	4.01	0.46588	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000019	T	0.57475	0.2056	L	0.28274	0.84	0.80722	D	1	B;B;B	0.12013	0.002;0.0;0.005	B;B;B	0.12156	0.006;0.001;0.007	T	0.50491	-0.8822	10	0.02654	T	1	.	7.4575	0.27274	0.1179:0.0:0.8821:0.0	.	87;85;197	B3KWG8;P49796-5;P49796	.;.;RGS3_HUMAN	K	197;197;85	ENSP00000363255:R197K;ENSP00000259406:R197K;ENSP00000312844:R85K	ENSP00000312844:R85K	R	+	2	0	RGS3	115286303	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.312000	0.51927	2.585000	0.87301	0.655000	0.94253	AGA		0.483	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		5	74	0	0	0	1	0	5	74				
MORC1	27136	broad.mit.edu	37	3	108818259	108818259	+	Silent	SNP	C	C	T	rs373682179		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr3:108818259C>T	ENST00000483760.1	-	6	412	c.369G>A	c.(367-369)acG>acA	p.T123T	MORC1_ENST00000232603.5_Silent_p.T123T|MORC1-AS1_ENST00000480826.1_RNA					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CACAGGTCATCGTTTCTTCCT	0.343																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(367-369)acG>acA		MORC family CW-type zinc finger 1		C		1,4401	2.1+/-5.4	0,1,2200	126.0	125.0	125.0		369	-3.8	1.0	3		125	0,8598		0,0,4299	no	coding-synonymous	MORC1	NM_014429.3		0,1,6499	TT,TC,CC		0.0,0.0227,0.0077		123/985	108818259	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108818259C>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.369G>A	3.37:g.108818259C>T						MORC1_ENST00000483760.1_Silent_p.T123T	p.T123T	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			6	451	-			123						Silent	SNP	ENST00000483760.1	37	c.369G>A																																																																																					0.343	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			4	47	0	0	0	1	0	4	47				
LLGL1	3996	broad.mit.edu	37	17	18137344	18137344	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr17:18137344G>A	ENST00000316843.4	+	6	665	c.569G>A	c.(568-570)cGc>cAc	p.R190H		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	190					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GACGACTACCGCTGTGGGAAG	0.647																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(568-570)cGc>cAc		lethal giant larvae homolog 1 (Drosophila)							28.0	33.0	31.0					17																	18137344		2203	4299	6502	SO:0001583	missense	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18137344G>A		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.569G>A	17.37:g.18137344G>A	ENSP00000321537:p.Arg190His						p.R190H	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			6	665	+	all_neural(463;0.228)		190					A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	c.569G>A	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155186	0.57259	.	.	ENSG00000131899	ENST00000316843	T	0.05139	3.49	5.87	4.91	0.64330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.046163	0.85682	D	0.000000	T	0.18130	0.0435	L	0.54323	1.7	0.42422	D	0.992645	D	0.76494	0.999	P	0.62885	0.908	T	0.00738	-1.1587	10	0.44086	T	0.13	-33.822	14.5734	0.68229	0.0704:0.0:0.9296:0.0	.	190	Q15334	L2GL1_HUMAN	H	190	ENSP00000321537:R190H	ENSP00000321537:R190H	R	+	2	0	LLGL1	18078069	1.000000	0.71417	0.966000	0.40874	0.085000	0.17905	5.474000	0.66781	1.519000	0.48950	0.650000	0.86243	CGC		0.647	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			7	20	0	0	0	1	0	7	20				
HHAT	55733	broad.mit.edu	37	1	210536201	210536201	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr1:210536201G>C	ENST00000367010.1	+	3	324	c.97G>C	c.(97-99)Gaa>Caa	p.E33Q	HHAT_ENST00000308852.6_Intron|HHAT_ENST00000545781.1_Intron|HHAT_ENST00000537898.1_Missense_Mutation_p.E33Q|HHAT_ENST00000391905.3_Missense_Mutation_p.E33Q|HHAT_ENST00000261458.3_Missense_Mutation_p.E33Q|HHAT_ENST00000413764.2_Missense_Mutation_p.E33Q|HHAT_ENST00000541565.1_Missense_Mutation_p.E33Q|HHAT_ENST00000545154.1_Missense_Mutation_p.E34Q	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	33					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTCAGAACACGAAGAGGAGCT	0.398																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(97-99)Gaa>Caa		hedgehog acyltransferase							84.0	83.0	84.0					1																	210536201		2203	4300	6503	SO:0001583	missense	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210536201G>C	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.97G>C	1.37:g.210536201G>C	ENSP00000355977:p.Glu33Gln					HHAT_ENST00000545781.1_Intron|HHAT_ENST00000545154.1_Missense_Mutation_p.E34Q|HHAT_ENST00000541565.1_Missense_Mutation_p.E33Q|HHAT_ENST00000261458.3_Missense_Mutation_p.E33Q|HHAT_ENST00000537898.1_Missense_Mutation_p.E33Q|HHAT_ENST00000308852.6_Intron|HHAT_ENST00000413764.2_Missense_Mutation_p.E33Q|HHAT_ENST00000391905.3_Missense_Mutation_p.E33Q	p.E33Q	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	3	324	+			33					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	c.97G>C	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	g	17.73	3.460968	0.63513	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000261458;ENST00000367010	T;T;T;T;T;T;T	0.48522	2.21;0.81;2.07;2.15;2.2;2.21;2.21	4.61	4.61	0.57282	.	0.049418	0.85682	D	0.000000	T	0.61590	0.2359	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.71674	0.998;0.997;0.997;0.994	D;D;D;P	0.79108	0.992;0.989;0.989;0.829	T	0.56214	-0.8016	10	0.19147	T	0.46	-15.0535	12.8198	0.57685	0.0:0.0:1.0:0.0	.	34;33;33;33	F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;HHAT_HUMAN	Q	33;33;34;33;33;33;33	ENSP00000416845:E33Q;ENSP00000444995:E33Q;ENSP00000438468:E34Q;ENSP00000442625:E33Q;ENSP00000375773:E33Q;ENSP00000261458:E33Q;ENSP00000355977:E33Q	ENSP00000261458:E33Q	E	+	1	0	HHAT	208602824	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	4.072000	0.57563	2.386000	0.81285	0.563000	0.77884	GAA		0.398	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		22	61	0	0	0	1	0	22	61				
HPS3	84343	broad.mit.edu	37	3	148858922	148858922	+	Silent	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr3:148858922G>A	ENST00000296051.2	+	3	971	c.831G>A	c.(829-831)acG>acA	p.T277T	HPS3_ENST00000460120.1_Silent_p.T112T	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	277					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGGAGTCTACGGGATTAGCTG	0.373									Hermansky-Pudlak syndrome																													ENST00000296051.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.(829-831)acG>acA		Hermansky-Pudlak syndrome 3							78.0	84.0	82.0					3																	148858922		2203	4300	6503	SO:0001819	synonymous_variant	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148858922G>A	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.831G>A	3.37:g.148858922G>A						HPS3_ENST00000460120.1_Silent_p.T112T	p.T277T	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		3	971	+			277					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Silent	SNP	ENST00000296051.2	37	c.831G>A	CCDS3140.1																																																																																				0.373	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		4	75	0	0	0	1	0	4	75				
MCM7	4176	broad.mit.edu	37	7	99690578	99690578	+	Missense_Mutation	SNP	G	G	A	rs370572012		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr7:99690578G>A	ENST00000303887.5	-	15	2782	c.2137C>T	c.(2137-2139)Cgg>Tgg	p.R713W	MCM7_ENST00000354230.3_Missense_Mutation_p.R537W|MCM7_ENST00000343023.6_Missense_Mutation_p.R383W|MIR25_ENST00000384816.1_RNA|MIR106B_ENST00000385301.1_RNA|MIR93_ENST00000385024.1_RNA	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	713	Interaction with ATRIP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATCCGTGTCCGGGAAGCATTG	0.587																																						ENST00000303887.5																			0				endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.(2137-2139)Cgg>Tgg		minichromosome maintenance complex component 7	Atorvastatin(DB01076)	G	TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	90.0	94.0	92.0		2137,1609	4.6	1.0	7		92	0,8600		0,0,4300	no	missense,missense	MCM7	NM_005916.3,NM_182776.1	101,101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	713/720,537/544	99690578	2,13004	2203	4300	6503	SO:0001583	missense	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99690578G>A		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.2137C>T	7.37:g.99690578G>A	ENSP00000307288:p.Arg713Trp					MCM7_ENST00000343023.6_Missense_Mutation_p.R383W|MCM7_ENST00000354230.3_Missense_Mutation_p.R537W	p.R713W	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN			15	2782	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		713			Interaction with ATRIP.		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	c.2137C>T	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.042859	0.75732	4.54E-4	0.0	ENSG00000166508	ENST00000343023;ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	T;T;T	0.62498	2.79;0.02;0.02	5.45	4.56	0.56223	.	0.132116	0.51477	D	0.000081	T	0.75213	0.3819	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	P	0.59288	0.855	T	0.79266	-0.1874	10	0.72032	D	0.01	-18.6143	13.2906	0.60269	0.0:0.0:0.8404:0.1596	.	713	P33993	MCM7_HUMAN	W	383;713;650;606;537	ENSP00000344006:R383W;ENSP00000307288:R713W;ENSP00000346171:R537W	ENSP00000307288:R713W	R	-	1	2	MCM7	99528514	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	5.609000	0.67661	1.509000	0.48786	-0.293000	0.09583	CGG		0.587	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			5	120	0	0	0	1	0	5	120				
ETFB	2109	broad.mit.edu	37	19	51856530	51856530	+	Silent	SNP	G	G	A	rs147509776		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr19:51856530G>A	ENST00000309244.4	-	3	322	c.231C>T	c.(229-231)acC>acT	p.T77T	CTD-2616J11.11_ENST00000600067.1_3'UTR|ETFB_ENST00000354232.4_Silent_p.T168T|CTD-2616J11.9_ENST00000600974.1_RNA	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	77					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		TGGCCAGGGCGGTACGAATCG	0.647																																						ENST00000354232.4																			0				kidney(2)|large_intestine(1)|lung(3)	6						c.(502-504)acC>acT		electron-transfer-flavoprotein, beta polypeptide			,	1,4405	2.1+/-5.4	0,1,2202	85.0	76.0	79.0		504,231	-10.4	0.0	19	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ETFB	NM_001014763.1,NM_001985.2	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	168/347,77/256	51856530	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2109				respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity	g.chr19:51856530G>A	X71129	CCDS12828.1, CCDS33085.1	19q13.3-q13.4	2008-02-05				ENSG00000105379			3482	protein-coding gene	gene with protein product		130410					Standard	NM_001014763		Approved		uc002pwg.3	P38117		ENST00000309244.4:c.231C>T	19.37:g.51856530G>A						CTD-2616J11.9_ENST00000600974.1_RNA|ETFB_ENST00000309244.4_Silent_p.T77T|CTD-2616J11.11_ENST00000600067.1_3'UTR	p.T168T	NM_001014763.1	NP_001014763.1	P38117	ETFB_HUMAN		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)	2	2971	-		all_neural(266;0.0199)	77					A8K766|B3KNY2|Q6IBH7|Q71RF6|Q9Y3S7	Silent	SNP	ENST00000309244.4	37	c.504C>T	CCDS12828.1																																																																																				0.647	ETFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464273.1			4	97	0	0	0	1	0	4	97				
TEK	7010	broad.mit.edu	37	9	27220087	27220087	+	Silent	SNP	C	C	T	rs542612983	byFrequency	TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr9:27220087C>T	ENST00000380036.4	+	21	3586	c.3144C>T	c.(3142-3144)taC>taT	p.Y1048Y	TEK_ENST00000406359.4_Silent_p.Y1005Y|TEK_ENST00000519097.1_Silent_p.Y900Y	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1048	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	CAGAACTCTACGAGAAGCTGC	0.532													C|||	2	0.000399361	0.0	0.0	5008	,	,		17969	0.0		0.0	False		,,,				2504	0.002					ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(3142-3144)taC>taT		TEK tyrosine kinase, endothelial							131.0	128.0	129.0					9																	27220087		2203	4300	6503	SO:0001819	synonymous_variant	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27220087C>T	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.3144C>T	9.37:g.27220087C>T						TEK_ENST00000519097.1_Silent_p.Y900Y|TEK_ENST00000406359.4_Silent_p.Y1005Y	p.Y1048Y	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	21	3586	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	1048			Protein kinase.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Silent	SNP	ENST00000380036.4	37	c.3144C>T	CCDS6519.1																																																																																				0.532	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			5	102	0	0	0	1	0	5	102				
WDR72	256764	broad.mit.edu	37	15	53815463	53815463	+	Missense_Mutation	SNP	C	C	T	rs549997856		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr15:53815463C>T	ENST00000396328.1	-	19	3444	c.3205G>A	c.(3205-3207)Gtg>Atg	p.V1069M	WDR72_ENST00000360509.5_Missense_Mutation_p.V1069M|WDR72_ENST00000567224.1_5'UTR|WDR72_ENST00000559418.1_Missense_Mutation_p.V1079M|WDR72_ENST00000557913.1_Missense_Mutation_p.V1066M	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1069										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ATGTCCTCCACGTCTTGGAAG	0.448																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(3205-3207)Gtg>Atg		WD repeat domain 72							188.0	180.0	183.0					15																	53815463		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53815463C>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.3205G>A	15.37:g.53815463C>T	ENSP00000379619:p.Val1069Met					WDR72_ENST00000559418.1_Missense_Mutation_p.V1079M|WDR72_ENST00000360509.5_Missense_Mutation_p.V1069M|WDR72_ENST00000557913.1_Missense_Mutation_p.V1066M|WDR72_ENST00000567224.1_5'UTR	p.V1069M	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	19	3444	-			1069					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.3205G>A	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	5.240	0.229819	0.09916	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.36157	1.27;1.27	6.17	-0.588	0.11687	.	1.192530	0.05923	N	0.633818	T	0.17492	0.0420	N	0.08118	0	0.09310	N	1	B	0.29253	0.239	B	0.25614	0.062	T	0.18681	-1.0329	10	0.42905	T	0.14	.	4.675	0.12708	0.1441:0.3792:0.0:0.4767	.	1069	Q3MJ13	WDR72_HUMAN	M	1069	ENSP00000379619:V1069M;ENSP00000353699:V1069M	ENSP00000353699:V1069M	V	-	1	0	WDR72	51602755	0.044000	0.20184	0.000000	0.03702	0.462000	0.32619	0.524000	0.22940	-0.380000	0.07894	-0.136000	0.14681	GTG		0.448	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		24	170	0	0	0	1	0	24	170				
KIAA1024	23251	broad.mit.edu	37	15	79750301	79750301	+	Silent	SNP	C	C	T	rs186514185		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr15:79750301C>T	ENST00000305428.3	+	2	1887	c.1812C>T	c.(1810-1812)ggC>ggT	p.G604G		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	604						integral component of membrane (GO:0016021)		p.G604G(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TCAGGATTGGCGAAATTGAAC	0.517													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21890	0.0		0.0	False		,,,				2504	0.0					ENST00000305428.3																			1	Substitution - coding silent(1)	p.G604G(1)	endometrium(1)	central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(1810-1812)ggC>ggT		KIAA1024							79.0	72.0	74.0					15																	79750301		2196	4293	6489	SO:0001819	synonymous_variant	23251					integral to membrane		g.chr15:79750301C>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1812C>T	15.37:g.79750301C>T							p.G604G	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	1887	+			604					A7MD43	Silent	SNP	ENST00000305428.3	37	c.1812C>T	CCDS32306.1																																																																																				0.517	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		7	112	0	0	0	1	0	7	112				
POLG	5428	broad.mit.edu	37	15	89876415	89876415	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr15:89876415C>T	ENST00000268124.5	-	2	904	c.571G>A	c.(571-573)Gag>Aag	p.E191K	RP11-217B1.2_ENST00000562356.1_RNA|POLG_ENST00000442287.2_Missense_Mutation_p.E191K|POLG_ENST00000525806.1_5'UTR|RP11-217B1.2_ENST00000569473.1_RNA	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	191					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GCCCGCTCCTCGGGGATGGCC	0.716								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(571-573)Gag>Aag	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							21.0	18.0	19.0					15																	89876415		2198	4294	6492	SO:0001583	missense	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89876415C>T	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.571G>A	15.37:g.89876415C>T	ENSP00000268124:p.Glu191Lys					POLG_ENST00000442287.2_Missense_Mutation_p.E191K|POLG_ENST00000525806.1_5'UTR	p.E191K	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		2	904	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		191					Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	c.571G>A	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937739	0.73557	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.93488	-3.23;-3.23	4.56	4.56	0.56223	Ribonuclease H-like (1);	0.198690	0.46145	D	0.000318	D	0.87200	0.6118	L	0.41710	1.295	0.48830	D	0.999717	P	0.41710	0.76	B	0.25614	0.062	D	0.86768	0.1971	10	0.23302	T	0.38	-13.596	16.959	0.86267	0.0:1.0:0.0:0.0	.	191	P54098	DPOG1_HUMAN	K	191	ENSP00000268124:E191K;ENSP00000399851:E191K	ENSP00000268124:E191K	E	-	1	0	POLG	87677419	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.847000	0.62867	2.086000	0.62901	0.561000	0.74099	GAG		0.716	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		12	33	0	0	0	1	0	12	33				
ZNF202	7753	broad.mit.edu	37	11	123601251	123601251	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr11:123601251C>T	ENST00000529691.1	-	2	565	c.346G>A	c.(346-348)Gag>Aag	p.E116K	ZNF202_ENST00000336139.4_Missense_Mutation_p.E116K|ZNF202_ENST00000530393.1_Missense_Mutation_p.E116K			O95125	ZN202_HUMAN	zinc finger protein 202	116	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		GTCACTGCCTCCTCGCCACTT	0.587																																						ENST00000336139.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(346-348)Gag>Aag		zinc finger protein 202							108.0	102.0	104.0					11																	123601251		2202	4299	6501	SO:0001583	missense	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123601251C>T	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.346G>A	11.37:g.123601251C>T	ENSP00000433881:p.Glu116Lys					ZNF202_ENST00000530393.1_Missense_Mutation_p.E116K|ZNF202_ENST00000529691.1_Missense_Mutation_p.E116K	p.E116K			O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	3	708	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	116			SCAN box.		B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	c.346G>A	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735963	0.69189	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691;ENST00000533463	T;T;T;T	0.08370	3.1;3.1;3.1;3.1	4.57	4.57	0.56435	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.48286	D	0.000186	T	0.16171	0.0389	M	0.85859	2.78	0.37310	D	0.909089	P	0.36909	0.573	B	0.40565	0.333	T	0.03306	-1.1050	10	0.87932	D	0	-20.8625	8.4709	0.32984	0.0:0.897:0.0:0.103	.	116	O95125	ZN202_HUMAN	K	116	ENSP00000337724:E116K;ENSP00000432504:E116K;ENSP00000433881:E116K;ENSP00000431223:E116K	ENSP00000337724:E116K	E	-	1	0	ZNF202	123106461	0.784000	0.28713	1.000000	0.80357	0.556000	0.35491	1.208000	0.32345	2.369000	0.80426	0.455000	0.32223	GAG		0.587	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		5	117	0	0	0	1	0	5	117				
USO1	8615	broad.mit.edu	37	4	76692048	76692048	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr4:76692048T>C	ENST00000538159.1	+	6	476	c.476T>C	c.(475-477)gTg>gCg	p.V159A	USO1_ENST00000514213.2_Missense_Mutation_p.V142A			O60763	USO1_HUMAN	USO1 vesicle transport factor	157	Globular head.				ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGGCCTCAGGTGCAACAAATT	0.353																																						ENST00000538159.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(475-477)gTg>gCg		USO1 vesicle transport factor							149.0	144.0	145.0					4																	76692048		1829	4080	5909	SO:0001583	missense	8615				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	g.chr4:76692048T>C	AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.476T>C	4.37:g.76692048T>C	ENSP00000440586:p.Val159Ala					USO1_ENST00000514213.2_Missense_Mutation_p.V142A	p.V159A			O60763	USO1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		6	476	+			157			Globular head.		B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	ENST00000538159.1	37	c.476T>C		.	.	.	.	.	.	.	.	.	.	T	25.4	4.635089	0.87760	.	.	ENSG00000138768	ENST00000538159;ENST00000514213;ENST00000264904	T;T	0.68025	-0.3;-0.3	5.77	5.77	0.91146	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.75162	0.3812	M	0.75615	2.305	0.80722	D	1	P	0.47106	0.89	P	0.50659	0.647	T	0.75178	-0.3409	10	0.36615	T	0.2	.	16.0884	0.81073	0.0:0.0:0.0:1.0	.	157	O60763	USO1_HUMAN	A	159;142;85	ENSP00000440586:V159A;ENSP00000444850:V142A	ENSP00000264904:V85A	V	+	2	0	USO1	76911072	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.393000	0.79851	2.203000	0.70933	0.533000	0.62120	GTG		0.353	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715		15	134	0	0	0	1	0	15	134				
HTR7	3363	broad.mit.edu	37	10	92509196	92509196	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr10:92509196A>G	ENST00000336152.3	-	2	721	c.695T>C	c.(694-696)tTg>tCg	p.L232S	HTR7_ENST00000371721.3_Missense_Mutation_p.L232S|HTR7_ENST00000371719.2_Missense_Mutation_p.L232S|HTR7_ENST00000277874.6_Missense_Mutation_p.L232S	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	232					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CTGGCTGATCAAGCACACCTT	0.463																																						ENST00000371721.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(694-696)tTg>tCg		5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						97.0	101.0	99.0					10																	92509196		2203	4300	6503	SO:0001583	missense	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92509196A>G	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.695T>C	10.37:g.92509196A>G	ENSP00000337949:p.Leu232Ser					HTR7_ENST00000336152.3_Missense_Mutation_p.L232S|HTR7_ENST00000277874.6_Missense_Mutation_p.L232S|HTR7_ENST00000371719.2_Missense_Mutation_p.L232S	p.L232S			P34969	5HT7R_HUMAN			2	937	-			232					B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	c.695T>C	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	A	18.13	3.555731	0.65425	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.50548	0.1622	L	0.49640	1.575	0.50171	D	0.999858	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.984	T	0.39603	-0.9606	10	0.09338	T	0.73	.	15.3743	0.74593	1.0:0.0:0.0:0.0	.	232;232	P34969;P34969-2	5HT7R_HUMAN;.	S	232	ENSP00000337949:L232S;ENSP00000277874:L232S;ENSP00000360784:L232S;ENSP00000360786:L232S	ENSP00000277874:L232S	L	-	2	0	HTR7	92499176	1.000000	0.71417	0.944000	0.38274	0.968000	0.65278	9.139000	0.94554	2.225000	0.72522	0.528000	0.53228	TTG		0.463	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		11	72	0	0	0	1	0	11	72				
ZNF202	7753	broad.mit.edu	37	11	123601252	123601252	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr11:123601252C>A	ENST00000529691.1	-	2	564	c.345G>T	c.(343-345)gaG>gaT	p.E115D	ZNF202_ENST00000336139.4_Missense_Mutation_p.E115D|ZNF202_ENST00000530393.1_Missense_Mutation_p.E115D			O95125	ZN202_HUMAN	zinc finger protein 202	115	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TCACTGCCTCCTCGCCACTTT	0.587																																						ENST00000336139.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(343-345)gaG>gaT		zinc finger protein 202							106.0	100.0	102.0					11																	123601252		2202	4299	6501	SO:0001583	missense	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123601252C>A	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.345G>T	11.37:g.123601252C>A	ENSP00000433881:p.Glu115Asp					ZNF202_ENST00000530393.1_Missense_Mutation_p.E115D|ZNF202_ENST00000529691.1_Missense_Mutation_p.E115D	p.E115D			O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	3	707	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	115			SCAN box.		B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	c.345G>T	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.841047	0.51057	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691;ENST00000533463	T;T;T;T	0.05513	3.43;3.43;3.43;3.43	4.57	2.54	0.30619	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.48286	D	0.000187	T	0.18341	0.0440	M	0.77616	2.38	0.31719	N	0.638531	D	0.61080	0.989	P	0.61533	0.89	T	0.05632	-1.0873	10	0.62326	D	0.03	-20.8577	8.0223	0.30417	0.0:0.7814:0.0:0.2186	.	115	O95125	ZN202_HUMAN	D	115	ENSP00000337724:E115D;ENSP00000432504:E115D;ENSP00000433881:E115D;ENSP00000431223:E115D	ENSP00000337724:E115D	E	-	3	2	ZNF202	123106462	0.154000	0.22792	1.000000	0.80357	0.551000	0.35334	-0.278000	0.08490	1.152000	0.42452	-0.391000	0.06502	GAG		0.587	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		5	116	1	0	0.014758	1	0.0148946	5	116				
IGHG4	3503	broad.mit.edu	37	14	106091239	106091239	+	RNA	SNP	C	C	T	rs57891506	byFrequency	TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr14:106091239C>T	ENST00000390543.2	-	0	654							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CCACCTTTGGCTTTGGAGATG	0.617													N|||	17	0.00339457	0.0121	0.0	5008	,	,		24984	0.001		0.0	False		,,,				2504	0.0					ENST00000390543.2																			0															T		31,4201		0,31,2085	205.0	268.0	247.0			-1.5	0.7	14	dbSNP_129	247	1,8477		0,1,4238	no	intergenic				0,32,6323	TT,TC,CC		0.0118,0.7325,0.2518			106091239	32,12678	2116	4239	6355			3503							g.chr14:106091239C>T	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106091239C>T														0	654	-									RNA	SNP	ENST00000390543.2	37																																																																																						0.617	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		42	529	0	0	0	1	0	42	529				
HLA-DQB2	3120	broad.mit.edu	37	6	32725596	32725596	+	Silent	SNP	C	C	G	rs34988824	byFrequency	TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr6:32725596C>G	ENST00000437316.2	-	4	774	c.711G>C	c.(709-711)ctG>ctC	p.L237L	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000435145.2_Silent_p.L237L			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	241					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CGAGGAAGATCAGCCCCAGCA	0.562																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(709-711)ctG>ctC		major histocompatibility complex, class II, DQ beta 2																																				SO:0001819	synonymous_variant	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725596C>G	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.711G>C	6.37:g.32725596C>G						HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Silent_p.L237L	p.L237L			Q5SR06	Q5SR06_HUMAN			4	772	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Silent	SNP	ENST00000437316.2	37	c.711G>C																																																																																					0.562	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			3	20	0	0	0	1	0	3	20				
ZNF682	91120	broad.mit.edu	37	19	20133875	20133875	+	Missense_Mutation	SNP	C	C	T	rs192180348		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr19:20133875C>T	ENST00000397165.2	-	3	324	c.164G>A	c.(163-165)cGt>cAt	p.R55H	ZNF682_ENST00000595736.1_Intron|ZNF682_ENST00000596019.1_Missense_Mutation_p.R55H|ZNF682_ENST00000597972.1_Missense_Mutation_p.R61H|ZNF682_ENST00000593468.1_Missense_Mutation_p.R55H|ZNF682_ENST00000358523.5_Missense_Mutation_p.R23H|ZNF682_ENST00000397162.1_Missense_Mutation_p.R23H	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	55	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TTGCTCCAGACGGCTAATCAG	0.443													N|||	1	0.000199681	0.0	0.0	5008	,	,		19055	0.001		0.0	False		,,,				2504	0.0					ENST00000397165.2																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						c.(163-165)cGt>cAt		zinc finger protein 682							128.0	130.0	130.0					19																	20133875		2069	4242	6311	SO:0001583	missense	91120				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20133875C>T	AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"""Zinc fingers, C2H2-type"", ""-"""	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.164G>A	19.37:g.20133875C>T	ENSP00000380351:p.Arg55His					ZNF682_ENST00000593468.1_Missense_Mutation_p.R55H|ZNF682_ENST00000358523.5_Missense_Mutation_p.R23H|ZNF682_ENST00000397162.1_Missense_Mutation_p.R23H|ZNF682_ENST00000597972.1_Missense_Mutation_p.R61H|ZNF682_ENST00000596019.1_Missense_Mutation_p.R55H|ZNF682_ENST00000595736.1_Intron	p.R55H	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN			3	324	-			55			KRAB.		B3KU64|E9PFJ5|Q96JV9	Missense_Mutation	SNP	ENST00000397165.2	37	c.164G>A	CCDS42533.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.43	1.346961	0.24426	.	.	ENSG00000197124	ENST00000397165;ENST00000397162;ENST00000358523	T;T;T	0.00784	5.7;5.7;5.7	0.898	-0.35	0.12606	Krueppel-associated box (3);	.	.	.	.	T	0.00496	0.0016	N	0.11651	0.15	0.09310	N	1	B	0.16603	0.018	B	0.06405	0.002	T	0.46190	-0.9209	9	0.44086	T	0.13	.	2.6962	0.05135	0.0:0.5546:0.0:0.4454	.	55	O95780	ZN682_HUMAN	H	55;23;23	ENSP00000380351:R55H;ENSP00000380348:R23H;ENSP00000351324:R23H	ENSP00000351324:R23H	R	-	2	0	ZNF682	19994875	0.060000	0.20803	0.598000	0.28837	0.604000	0.37047	-0.388000	0.07352	0.284000	0.22305	0.289000	0.19496	CGT		0.443	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462888.1	NM_033196		26	92	0	0	0	1	0	26	92				
SLC28A2	9153	broad.mit.edu	37	15	45555359	45555359	+	Silent	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr15:45555359G>A	ENST00000347644.3	+	5	428	c.363G>A	c.(361-363)tcG>tcA	p.S121S	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	121					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	TGGTTCACTCGTTTTTGAAAA	0.458																																					NSCLC(92;493 1501 26361 28917 47116)	ENST00000347644.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26						c.(361-363)tcG>tcA		solute carrier family 28 (concentrative nucleoside transporter), member 2							103.0	98.0	100.0					15																	45555359		2198	4298	6496	SO:0001819	synonymous_variant	9153				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	g.chr15:45555359G>A	U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.363G>A	15.37:g.45555359G>A						CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	p.S121S	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	5	428	+		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	121					A8K7F9|O43239|Q52LZ0	Silent	SNP	ENST00000347644.3	37	c.363G>A	CCDS10121.1																																																																																				0.458	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212		8	68	0	0	0	1	0	8	68				
SRPX	8406	broad.mit.edu	37	X	38013775	38013775	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chrX:38013775G>A	ENST00000378533.3	-	9	1257	c.1151C>T	c.(1150-1152)cCg>cTg	p.P384L	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_Missense_Mutation_p.P364L|SRPX_ENST00000343800.6_Missense_Mutation_p.P371L|SRPX_ENST00000538295.1_Intron|SRPX_ENST00000432886.2_Missense_Mutation_p.P325L|SRPX_ENST00000479015.1_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	384					autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						AATGAGAGTCGGGAACACACC	0.517																																						ENST00000378533.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(1150-1152)cCg>cTg		sushi-repeat containing protein, X-linked							91.0	66.0	74.0					X																	38013775		2202	4300	6502	SO:0001583	missense	8406				cell adhesion	cell surface|membrane		g.chrX:38013775G>A	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.1151C>T	X.37:g.38013775G>A	ENSP00000367794:p.Pro384Leu					TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000479015.1_Intron|SRPX_ENST00000343800.6_Missense_Mutation_p.P371L|SRPX_ENST00000432886.2_Missense_Mutation_p.P325L|SRPX_ENST00000544439.1_Missense_Mutation_p.P364L|SRPX_ENST00000538295.1_Intron	p.P384L	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN			9	1257	-			384					A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Missense_Mutation	SNP	ENST00000378533.3	37	c.1151C>T	CCDS14245.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939157	0.92526	.	.	ENSG00000101955	ENST00000544439;ENST00000432886;ENST00000378533;ENST00000343800	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.63474	0.2514	L	0.58354	1.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.65894	-0.6057	10	0.87932	D	0	-17.2295	18.5923	0.91218	0.0:0.0:1.0:0.0	.	325;364;384	B4DQH5;G3V1L0;P78539	.;.;SRPX_HUMAN	L	364;325;384;371	ENSP00000440758:P364L;ENSP00000411165:P325L;ENSP00000367794:P384L;ENSP00000339211:P371L	ENSP00000339211:P371L	P	-	2	0	SRPX	37898719	1.000000	0.71417	0.965000	0.40720	0.949000	0.60115	9.434000	0.97515	2.334000	0.79466	0.600000	0.82982	CCG		0.517	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		3	11	0	0	0	1	0	3	11				
KDM6A	7403	broad.mit.edu	37	X	44913196	44913196	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chrX:44913196G>A	ENST00000377967.4	+	10	912	c.871G>A	c.(871-873)Gga>Aga	p.G291R	KDM6A_ENST00000382899.4_Missense_Mutation_p.G291R|KDM6A_ENST00000543216.1_Missense_Mutation_p.G291R|KDM6A_ENST00000536777.1_Missense_Mutation_p.G291R	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	291	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(4)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GTATTTCCTCGGAAGGTGAGA	0.383			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		10	Whole gene deletion(6)|No detectable mRNA/protein(4)	p.0?(6)|p.0(4)	haematopoietic_and_lymphoid_tissue(4)|oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(871-873)Gga>Aga		lysine (K)-specific demethylase 6A							154.0	134.0	141.0					X																	44913196		2203	4300	6503	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44913196G>A	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.871G>A	X.37:g.44913196G>A	ENSP00000367203:p.Gly291Arg					KDM6A_ENST00000543216.1_Missense_Mutation_p.G291R|KDM6A_ENST00000382899.4_Missense_Mutation_p.G291R|KDM6A_ENST00000536777.1_Missense_Mutation_p.G291R	p.G291R	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			10	912	+			291					Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.871G>A	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736061	0.89482	.	.	ENSG00000147050	ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	T;T;T;T	0.70399	1.2;1.2;-0.48;1.2	5.19	5.19	0.71726	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.88529	0.6461	M	0.93594	3.435	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.91683	0.5360	10	0.87932	D	0	-10.3982	18.0905	0.89474	0.0:0.0:1.0:0.0	.	291;291;291;291;291	F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.;.;.;.;KDM6A_HUMAN	R	291	ENSP00000367203:G291R;ENSP00000437405:G291R;ENSP00000372355:G291R;ENSP00000443078:G291R	ENSP00000367203:G291R	G	+	1	0	KDM6A	44798140	1.000000	0.71417	0.990000	0.47175	0.980000	0.70556	9.420000	0.97426	2.296000	0.77279	0.538000	0.68166	GGA		0.383	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		18	117	0	0	0	1	0	18	117				
RBM15B	29890	broad.mit.edu	37	3	51429255	51429255	+	Missense_Mutation	SNP	T	T	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr3:51429255T>A	ENST00000323686.4	+	1	525	c.425T>A	c.(424-426)cTc>cAc	p.L142H		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	142	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAGACGTTGCTCATCAGCAGC	0.721																																						ENST00000323686.4																			0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(424-426)cTc>cAc		RNA binding motif protein 15B							25.0	31.0	29.0					3																	51429255		2014	3916	5930	SO:0001583	missense	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51429255T>A	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"""RNA binding motif (RRM) containing"""	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.425T>A	3.37:g.51429255T>A	ENSP00000313890:p.Leu142His						p.L142H	NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	525	+			142			RRM 1.		A4QPG7|Q6QE19|Q9BV96	Missense_Mutation	SNP	ENST00000323686.4	37	c.425T>A	CCDS33764.1	.	.	.	.	.	.	.	.	.	.	T	17.05	3.290739	0.59976	.	.	ENSG00000179837	ENST00000323686	T	0.15017	2.46	3.77	2.57	0.30868	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	.	.	.	.	T	0.14399	0.0348	L	0.40543	1.245	0.37236	D	0.905918	D	0.56746	0.977	B	0.43536	0.423	T	0.10428	-1.0630	9	0.42905	T	0.14	.	8.5854	0.33655	0.1726:0.0:0.0:0.8274	.	142	Q8NDT2	RB15B_HUMAN	H	142	ENSP00000313890:L142H	ENSP00000313890:L142H	L	+	2	0	RBM15B	51404295	0.886000	0.30341	0.977000	0.42913	0.897000	0.52465	1.398000	0.34554	0.425000	0.26087	0.379000	0.24179	CTC		0.721	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		39	80	0	0	0	1	0	39	80				
MTMR1	8776	broad.mit.edu	37	X	149898676	149898676	+	Missense_Mutation	SNP	C	C	G	rs371235320		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chrX:149898676C>G	ENST00000370390.3	+	6	784	c.627C>G	c.(625-627)aaC>aaG	p.N209K	MTMR1_ENST00000544228.1_Missense_Mutation_p.N209K|MTMR1_ENST00000538506.1_Missense_Mutation_p.N96K|MTMR1_ENST00000445323.2_Missense_Mutation_p.N217K|MTMR1_ENST00000451863.2_Missense_Mutation_p.N209K|MTMR1_ENST00000542156.1_Missense_Mutation_p.N209K|MTMR1_ENST00000541925.1_Missense_Mutation_p.N115K	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	209					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTTTCTAACGGACAGGTAA	0.363																																						ENST00000445323.2																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23						c.(649-651)aaC>aaG		myotubularin related protein 1							94.0	83.0	87.0					X																	149898676		2203	4300	6503	SO:0001583	missense	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149898676C>G	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.627C>G	X.37:g.149898676C>G	ENSP00000359417:p.Asn209Lys					MTMR1_ENST00000544228.1_Missense_Mutation_p.N209K|MTMR1_ENST00000538506.1_Missense_Mutation_p.N96K|MTMR1_ENST00000542156.1_Missense_Mutation_p.N209K|MTMR1_ENST00000370390.3_Missense_Mutation_p.N209K|MTMR1_ENST00000541925.1_Missense_Mutation_p.N115K|MTMR1_ENST00000451863.2_Missense_Mutation_p.N209K	p.N217K			Q13613	MTMR1_HUMAN			7	772	+	Acute lymphoblastic leukemia(192;6.56e-05)		209					A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	c.651C>G	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801149	0.31869	.	.	ENSG00000063601	ENST00000541925;ENST00000493995;ENST00000542156;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000538506	D;D;D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.25	-1.51	0.08664	.	0.253544	0.45606	D	0.000352	T	0.78629	0.4313	M	0.70903	2.155	0.47905	D	0.999541	P;B;P	0.48350	0.721;0.085;0.909	B;B;P	0.45538	0.174;0.031;0.484	T	0.74281	-0.3716	10	0.12103	T	0.63	.	9.8754	0.41200	0.0:0.3562:0.0:0.6438	.	209;217;209	Q13613;F8WA39;Q8NEC6	MTMR1_HUMAN;.;.	K	115;115;209;209;217;209;209;96	ENSP00000441879:N115K;ENSP00000431992:N115K;ENSP00000445281:N209K;ENSP00000359417:N209K;ENSP00000414178:N217K;ENSP00000440534:N209K;ENSP00000387446:N209K;ENSP00000443444:N96K	ENSP00000359417:N209K	N	+	3	2	MTMR1	149649334	1.000000	0.71417	0.804000	0.32291	0.690000	0.40134	0.666000	0.25097	-0.592000	0.05851	-0.296000	0.09543	AAC		0.363	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		13	31	0	0	0	1	0	13	31				
TRPV2	51393	broad.mit.edu	37	17	16336997	16336997	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr17:16336997A>G	ENST00000338560.7	+	13	2498	c.2099A>G	c.(2098-2100)gAg>gGg	p.E700G	TRPV2_ENST00000577397.1_Missense_Mutation_p.E270G	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	700					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGCCCCGATGAGCGCTGGTGC	0.627																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(2098-2100)gAg>gGg		transient receptor potential cation channel, subfamily V, member 2							102.0	90.0	94.0					17																	16336997		2203	4300	6503	SO:0001583	missense	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16336997A>G	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.2099A>G	17.37:g.16336997A>G	ENSP00000342222:p.Glu700Gly					TRPV2_ENST00000577397.1_Missense_Mutation_p.E270G	p.E700G	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	13	2498	+			700					A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.2099A>G	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.260144	0.39995	.	.	ENSG00000187688	ENST00000338560	D	0.88586	-2.4	5.79	5.79	0.91817	.	0.326457	0.37437	N	0.002095	D	0.87184	0.6114	L	0.39245	1.2	0.43598	D	0.995959	P	0.50943	0.94	P	0.49140	0.601	D	0.84946	0.0868	10	0.22706	T	0.39	-28.0266	14.0861	0.64957	1.0:0.0:0.0:0.0	.	700	Q9Y5S1	TRPV2_HUMAN	G	700	ENSP00000342222:E700G	ENSP00000342222:E700G	E	+	2	0	TRPV2	16277722	0.902000	0.30710	0.999000	0.59377	0.958000	0.62258	2.336000	0.43938	2.220000	0.72140	0.528000	0.53228	GAG		0.627	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		39	58	0	0	0	1	0	39	58				
SLC10A2	6555	broad.mit.edu	37	13	103705000	103705000	+	Missense_Mutation	SNP	T	T	G			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr13:103705000T>G	ENST00000245312.3	-	3	1151	c.555A>C	c.(553-555)aaA>aaC	p.K185N		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	185					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	TTTGGGGCCATTTGTGATTAA	0.393																																						ENST00000245312.3																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(553-555)aaA>aaC		solute carrier family 10 (sodium/bile acid cotransporter), member 2							225.0	210.0	215.0					13																	103705000		2203	4300	6503	SO:0001583	missense	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103705000T>G	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.555A>C	13.37:g.103705000T>G	ENSP00000245312:p.Lys185Asn						p.K185N	NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN			3	1151	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		185					A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	c.555A>C	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.166673	0.78339	.	.	ENSG00000125255	ENST00000245312	T	0.12255	2.7	5.62	0.47	0.16747	.	0.095798	0.64402	D	0.000001	T	0.34221	0.0890	M	0.89095	3.005	0.37882	D	0.930405	P	0.46277	0.875	P	0.60682	0.878	T	0.17561	-1.0365	10	0.33940	T	0.23	-13.6756	9.246	0.37527	0.0:0.3746:0.0:0.6254	.	185	Q12908	NTCP2_HUMAN	N	185	ENSP00000245312:K185N	ENSP00000245312:K185N	K	-	3	2	SLC10A2	102503001	0.993000	0.37304	0.997000	0.53966	0.996000	0.88848	0.428000	0.21395	-0.098000	0.12285	0.460000	0.39030	AAA		0.393	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			6	55	0	0	0	1	0	6	55				
GPR75	10936	broad.mit.edu	37	2	54081037	54081037	+	Missense_Mutation	SNP	C	C	T	rs373780716	byFrequency	TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr2:54081037C>T	ENST00000394705.2	-	2	1127	c.857G>A	c.(856-858)cGt>cAt	p.R286H	GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	286					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGTATATCCACGGGTCTGAAC	0.557													C|||	10	0.00199681	0.0	0.0	5008	,	,		19587	0.0		0.0	False		,,,				2504	0.0102					ENST00000394705.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(856-858)cGt>cAt		G protein-coupled receptor 75		C	,HIS/ARG	0,4406		0,0,2203	162.0	141.0	148.0		,857	4.2	1.0	2		148	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	GPR75,GPR75-ASB3	NM_001164165.1,NM_006794.3	,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign	,286/541	54081037	1,13005	2203	4300	6503	SO:0001583	missense	10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54081037C>T	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.857G>A	2.37:g.54081037C>T	ENSP00000378195:p.Arg286His					ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron	p.R286H	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	1127	-			286					B2RC02|Q6NWR2	Missense_Mutation	SNP	ENST00000394705.2	37	c.857G>A	CCDS1849.1	.	.	.	.	.	.	.	.	.	.	C	1.642	-0.516300	0.04200	0.0	1.16E-4	ENSG00000119737	ENST00000394705	T	0.20881	2.04	5.3	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.111469	0.64402	N	0.000016	T	0.08714	0.0216	.	.	.	0.29370	N	0.864084	B	0.02656	0.0	B	0.01281	0.0	T	0.30851	-0.9964	9	0.02654	T	1	-5.5669	10.183	0.42980	0.0:0.08:0.0:0.92	.	286	O95800	GPR75_HUMAN	H	286	ENSP00000378195:R286H	ENSP00000378195:R286H	R	-	2	0	GPR75	53934541	1.000000	0.71417	0.985000	0.45067	0.970000	0.65996	3.394000	0.52551	1.045000	0.40225	-0.378000	0.06908	CGT		0.557	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2			3	41	0	0	0	1	0	3	41				
ERBB2	2064	broad.mit.edu	37	17	37872674	37872674	+	Missense_Mutation	SNP	G	G	A	rs150203173		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr17:37872674G>A	ENST00000269571.5	+	13	1793	c.1634G>A	c.(1633-1635)cGa>cAa	p.R545Q	ERBB2_ENST00000445658.2_Missense_Mutation_p.R269Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.R515Q|ERBB2_ENST00000578199.1_Missense_Mutation_p.R515Q|ERBB2_ENST00000406381.2_Missense_Mutation_p.R515Q|ERBB2_ENST00000540147.1_Missense_Mutation_p.R515Q|ERBB2_ENST00000540042.1_Missense_Mutation_p.R515Q|ERBB2_ENST00000584450.1_Missense_Mutation_p.R545Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.R530Q			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	545					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GAGGAATGCCGAGTACTGCAG	0.672		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"""A, Mis, O"""	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			"""breast, ovarian, other tumour types, NSCLC, gastric"""		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(1543-1545)cGa>cAa		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	44.0	45.0	45.0		1544,1634	4.6	1.0	17	dbSNP_134	45	0,8600		0,0,4300	no	missense,missense	ERBB2	NM_001005862.1,NM_004448.2	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	515/1226,545/1256	37872674	1,13005	2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37872674G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.1634G>A	17.37:g.37872674G>A	ENSP00000269571:p.Arg545Gln	TCGA GBM(5;<1E-08)				ERBB2_ENST00000540147.1_Missense_Mutation_p.R515Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.R515Q|ERBB2_ENST00000540042.1_Missense_Mutation_p.R515Q|ERBB2_ENST00000584450.1_Missense_Mutation_p.R545Q|ERBB2_ENST00000269571.5_Missense_Mutation_p.R545Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.R530Q|ERBB2_ENST00000445658.2_Missense_Mutation_p.R269Q|ERBB2_ENST00000578199.1_Missense_Mutation_p.R515Q	p.R515Q	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	15	2054	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	545					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.1544G>A	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641283	0.47153	2.27E-4	0.0	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	D;D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97;-1.97	5.58	4.61	0.57282	Growth factor, receptor (1);	.	.	.	.	T	0.74359	0.3706	L	0.45228	1.405	0.36927	D	0.891682	B;D;D;P	0.53745	0.441;0.962;0.962;0.668	B;B;B;B	0.34536	0.05;0.185;0.13;0.05	T	0.78600	-0.2141	9	0.72032	D	0.01	.	6.9826	0.24711	0.2931:0.0:0.7069:0.0	.	269;515;530;545	B4DTR1;F5H1T4;P04626-4;P04626	.;.;.;ERBB2_HUMAN	Q	515;530;269;545;515;515	ENSP00000385185:R515Q;ENSP00000446466:R530Q;ENSP00000404047:R269Q;ENSP00000269571:R545Q;ENSP00000443562:R515Q;ENSP00000446382:R515Q	ENSP00000269571:R545Q	R	+	2	0	ERBB2	35126200	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.109000	0.57824	1.372000	0.46190	0.491000	0.48974	CGA		0.672	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			5	15	0	0	0	1	0	5	15				
SALL4	57167	broad.mit.edu	37	20	50407711	50407711	+	Silent	SNP	T	T	C			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr20:50407711T>C	ENST00000217086.4	-	2	1422	c.1311A>G	c.(1309-1311)gcA>gcG	p.A437A	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	437					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTGGGGGTTTGCCTTCACCT	0.562																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1309-1311)gcA>gcG		spalt-like transcription factor 4							52.0	53.0	53.0					20																	50407711		2203	4300	6503	SO:0001819	synonymous_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50407711T>C	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1311A>G	20.37:g.50407711T>C						SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	p.A437A	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			2	1422	-			437					A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	c.1311A>G	CCDS13438.1																																																																																				0.562	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			5	131	0	0	0	1	0	5	131				
ZNF750	79755	broad.mit.edu	37	17	80789502	80789502	+	Nonsense_Mutation	SNP	C	C	A	rs35283702	byFrequency	TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr17:80789502C>A	ENST00000269394.3	-	2	1662	c.829G>T	c.(829-831)Gga>Tga	p.G277*	TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	277					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCTTGGGTTCCGTAGACTGAC	0.597																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(829-831)Gga>Tga		zinc finger protein 750							104.0	112.0	109.0					17																	80789502		2203	4300	6503	SO:0001587	stop_gained	79755					intracellular	zinc ion binding	g.chr17:80789502C>A	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.829G>T	17.37:g.80789502C>A	ENSP00000269394:p.Gly277*					TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron	p.G277*	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	1662	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	277					Q9H899	Nonsense_Mutation	SNP	ENST00000269394.3	37	c.829G>T	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	C	39	7.895176	0.98548	.	.	ENSG00000141579	ENST00000269394	.	.	.	5.34	4.38	0.52667	.	0.284900	0.30168	N	0.010256	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	-27.6189	8.2291	0.31587	0.1549:0.7659:0.0:0.0792	.	.	.	.	X	277	.	.	G	-	1	0	ZNF750	78382791	0.001000	0.12720	0.194000	0.23346	0.067000	0.16453	0.555000	0.23422	1.262000	0.44165	-0.140000	0.14226	GGA		0.597	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		51	95	1	0	1.21353e-23	1	1.28423e-23	51	95				
PKN1	5585	broad.mit.edu	37	19	14578417	14578417	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr19:14578417C>T	ENST00000242783.6	+	13	1937	c.1772C>T	c.(1771-1773)tCg>tTg	p.S591L	PKN1_ENST00000342216.4_Missense_Mutation_p.S597L	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	591					activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GAGCTGCCTTCGGAGACCCAG	0.652																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1771-1773)tCg>tTg		protein kinase N1							42.0	51.0	48.0					19																	14578417		2061	4176	6237	SO:0001583	missense	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14578417C>T	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1772C>T	19.37:g.14578417C>T	ENSP00000242783:p.Ser591Leu					PKN1_ENST00000342216.4_Missense_Mutation_p.S597L	p.S591L	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			13	1937	+			591					A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.1772C>T	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409874	0.42715	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.66995	-0.24;-0.24	3.93	2.79	0.32731	.	0.709544	0.11417	U	0.566189	T	0.47637	0.1456	L	0.36672	1.1	0.09310	N	1	P;P	0.38370	0.628;0.495	B;B	0.23018	0.043;0.019	T	0.36407	-0.9749	10	0.39692	T	0.17	-11.576	8.1828	0.31322	0.2389:0.7611:0.0:0.0	.	597;591	Q16512-2;Q16512	.;PKN1_HUMAN	L	591;597	ENSP00000242783:S591L;ENSP00000343325:S597L	ENSP00000242783:S591L	S	+	2	0	PKN1	14439417	0.056000	0.20664	0.923000	0.36655	0.853000	0.48598	4.145000	0.58065	2.204000	0.70986	0.407000	0.27541	TCG		0.652	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		10	78	0	0	0	1	0	10	78				
MIS18BP1	55320	broad.mit.edu	37	14	45711965	45711965	+	Splice_Site	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr14:45711965G>A	ENST00000310806.4	-	3	1115	c.657C>T	c.(655-657)taC>taT	p.Y219Y	MIS18BP1_ENST00000492652.1_5'Flank	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	219					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						ATAGTTTACCGTAAGTTAAAT	0.343																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.e3+1		MIS18 binding protein 1							117.0	121.0	119.0					14																	45711965		2203	4300	6503	SO:0001630	splice_region_variant	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45711965G>A	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.658+1C>T	14.37:g.45711965G>A							p.Y219_splice	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			3	1115	-			219					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Splice_Site	SNP	ENST00000310806.4	37	c.658_splice	CCDS9684.1																																																																																				0.343	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2		Silent	9	86	0	0	0	1	0	9	86				
HTR3A	3359	broad.mit.edu	37	11	113857526	113857526	+	Intron	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr11:113857526C>T	ENST00000504030.2	+	8	1361				HTR3A_ENST00000375498.2_Intron|HTR3A_ENST00000506841.2_Missense_Mutation_p.A331V|HTR3A_ENST00000355556.2_Missense_Mutation_p.A337V|HTR3A_ENST00000299961.5_Intron|HTR3A_ENST00000535865.1_Intron			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	GTGTCTCTTGCCTCTGCCCTG	0.587																																						ENST00000355556.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(1009-1011)gCc>gTc		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						120.0	105.0	110.0					11																	113857526		2201	4296	6497	SO:0001627	intron_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113857526C>T	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.917-21C>T	11.37:g.113857526C>T						HTR3A_ENST00000504030.2_Intron|HTR3A_ENST00000506841.2_Missense_Mutation_p.A331V|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000375498.2_Intron|HTR3A_ENST00000299961.5_Intron	p.A337V	NM_213621.3	NP_998786.2	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	7	1243	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	305					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.1010C>T		.	.	.	.	.	.	.	.	.	.	C	7.125	0.578701	0.13686	.	.	ENSG00000166736	ENST00000355556;ENST00000506841	D;D	0.83506	-1.73;-1.73	4.29	3.35	0.38373	.	3.928140	0.00559	N	0.000268	T	0.72827	0.3509	N	0.14661	0.345	0.23787	N	0.996842	B	0.19200	0.034	B	0.17098	0.017	T	0.58126	-0.7691	9	.	.	.	0.0142	9.1679	0.37063	0.1656:0.6744:0.16:0.0	.	337	G5E986	.	V	337;331	ENSP00000347754:A337V;ENSP00000424776:A331V	.	A	+	2	0	HTR3A	113362736	0.000000	0.05858	0.001000	0.08648	0.346000	0.29079	0.038000	0.13862	0.887000	0.36136	0.561000	0.74099	GCC		0.587	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		25	67	0	0	0	1	0	25	67				
MTMR12	54545	broad.mit.edu	37	5	32263325	32263325	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr5:32263325C>T	ENST00000382142.3	-	7	777	c.607G>A	c.(607-609)Gta>Ata	p.V203I	MTMR12_ENST00000264934.5_Missense_Mutation_p.V203I|MTMR12_ENST00000280285.5_Missense_Mutation_p.V203I	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	203						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCAAACATTACGGTATGGTTC	0.408																																						ENST00000382142.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(607-609)Gta>Ata		myotubularin related protein 12							246.0	203.0	217.0					5																	32263325		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32263325C>T	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.607G>A	5.37:g.32263325C>T	ENSP00000371577:p.Val203Ile					MTMR12_ENST00000264934.5_Missense_Mutation_p.V203I|MTMR12_ENST00000280285.5_Missense_Mutation_p.V203I	p.V203I	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN			7	777	-			203					Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.607G>A	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	C	9.093	1.002121	0.19121	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.90004	-2.6;-2.6;-2.6	5.47	2.62	0.31277	.	0.340990	0.27682	N	0.018300	T	0.80939	0.4720	L	0.36672	1.1	0.09310	N	1	B;B;B	0.12630	0.002;0.006;0.003	B;B;B	0.16289	0.015;0.006;0.002	T	0.63910	-0.6530	10	0.22706	T	0.39	.	8.4515	0.32873	0.2189:0.6536:0.0:0.1275	.	203;203;203	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	I	203	ENSP00000280285:V203I;ENSP00000371577:V203I;ENSP00000264934:V203I	ENSP00000264934:V203I	V	-	1	0	MTMR12	32299082	0.161000	0.22892	0.004000	0.12327	0.342000	0.28953	0.932000	0.28884	0.296000	0.22592	-0.813000	0.03139	GTA		0.408	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		4	97	0	0	0	1	0	4	97				
SEL1L2	80343	broad.mit.edu	37	20	13830922	13830922	+	Missense_Mutation	SNP	G	G	A	rs192865162		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr20:13830922G>A	ENST00000284951.5	-	19	1936	c.1862C>T	c.(1861-1863)aCg>aTg	p.T621M	SEL1L2_ENST00000378072.5_Missense_Mutation_p.T508M|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	621						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ATCTGGACTCGTTTGAGCAGC	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		21341	0.001		0.0	False		,,,				2504	0.0					ENST00000284951.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(1861-1863)aCg>aTg		sel-1 suppressor of lin-12-like 2 (C. elegans)							100.0	100.0	100.0					20																	13830922		1994	4168	6162	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13830922G>A	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1862C>T	20.37:g.13830922G>A	ENSP00000284951:p.Thr621Met					SEL1L2_ENST00000378072.5_Missense_Mutation_p.T508M|SEL1L2_ENST00000486903.1_5'UTR	p.T621M			Q5TEA6	SE1L2_HUMAN			19	1936	-			621					B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1862C>T		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.83	3.484434	0.63962	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.54279	0.73;0.58	5.96	5.02	0.67125	Tetratricopeptide-like helical (1);	0.192851	0.37095	N	0.002243	T	0.61751	0.2372	L	0.60455	1.87	0.42889	D	0.994197	P;D	0.58620	0.875;0.983	B;P	0.53490	0.151;0.727	T	0.64803	-0.6321	10	0.49607	T	0.09	-17.4117	15.2047	0.73169	0.0:0.1414:0.8586:0.0	.	508;621	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	M	508;621	ENSP00000367312:T508M;ENSP00000284951:T621M	ENSP00000284951:T621M	T	-	2	0	SEL1L2	13778922	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.929000	0.70096	1.537000	0.49254	-0.133000	0.14855	ACG		0.448	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		10	98	0	0	0	1	0	10	98				
PDK1	5163	broad.mit.edu	37	2	173431653	173431653	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr2:173431653A>G	ENST00000282077.3	+	6	943	c.761A>G	c.(760-762)gAa>gGa	p.E254G	PDK1_ENST00000392571.2_Missense_Mutation_p.E274G|PDK1_ENST00000543905.1_Missense_Mutation_p.E178G|PDK1_ENST00000410055.1_Missense_Mutation_p.E254G|PDK1_ENST00000544863.1_Missense_Mutation_p.E99G			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	254	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell proliferation (GO:0008283)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			GAACTTGAAGAACTAAATGGT	0.313									Autosomal Dominant Polycystic Kidney Disease																													ENST00000410055.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16						c.(760-762)gAa>gGa		pyruvate dehydrogenase kinase, isozyme 1							147.0	145.0	146.0					2																	173431653		2203	4299	6502	SO:0001583	missense	5163	Autosomal Dominant Polycystic Kidney Disease	Familial Cancer Database	ADPKD	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr2:173431653A>G	L42450	CCDS2250.1, CCDS63059.1	2q31.1	2008-05-23	2005-11-16		ENSG00000152256	ENSG00000152256			8809	protein-coding gene	gene with protein product		602524	"""pyruvate dehydrogenase kinase, isoenzyme 1"""			7499431	Standard	NR_103731		Approved		uc002uhs.3	Q15118	OTTHUMG00000132285	ENST00000282077.3:c.761A>G	2.37:g.173431653A>G	ENSP00000282077:p.Glu254Gly					PDK1_ENST00000392571.2_Missense_Mutation_p.E274G|PDK1_ENST00000282077.2_Missense_Mutation_p.E254G|PDK1_ENST00000543905.1_Missense_Mutation_p.E178G|PDK1_ENST00000544863.1_Missense_Mutation_p.E99G	p.E254G	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.12)		6	861	+			254			Histidine kinase.		B2R6T1|B7Z937|D3DPD8|E9PD65|Q308M4	Missense_Mutation	SNP	ENST00000282077.3	37	c.761A>G	CCDS2250.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.620296	0.87460	.	.	ENSG00000152256	ENST00000543905;ENST00000544863;ENST00000282077;ENST00000392571;ENST00000410055;ENST00000416991	T;T;T;T;T;T	0.66280	0.81;-0.2;1.12;1.1;1.12;-0.17	5.4	5.4	0.78164	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.60011	0.2236	L	0.29908	0.895	0.80722	D	1	P;P	0.52692	0.955;0.935	P;P	0.52267	0.565;0.694	T	0.55755	-0.8091	10	0.20046	T	0.44	-22.8143	15.4123	0.74937	1.0:0.0:0.0:0.0	.	254;274	Q15118;E9PD65	PDK1_HUMAN;.	G	178;99;254;274;254;172	ENSP00000438567:E178G;ENSP00000437502:E99G;ENSP00000282077:E254G;ENSP00000376352:E274G;ENSP00000386985:E254G;ENSP00000399160:E172G	ENSP00000282077:E254G	E	+	2	0	PDK1	173139899	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.049000	0.60858	0.533000	0.62120	GAA		0.313	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255380.3	NM_002610		9	38	0	0	0	1	0	9	38				
RBM22	55696	broad.mit.edu	37	5	150071393	150071393	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr5:150071393G>A	ENST00000199814.4	-	11	1304	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	RBM22_ENST00000447771.2_Missense_Mutation_p.R346W|RBM22_ENST00000540000.1_Missense_Mutation_p.R346W	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	395	Pro-rich.				cellular response to drug (GO:0035690)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of RNA splicing (GO:0033120)|protein import into nucleus, translocation (GO:0000060)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|snRNA binding (GO:0017069)	p.R395W(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGGAGCCCGCATGAAAGGA	0.537																																						ENST00000199814.4																			2	Substitution - Missense(2)	p.R395W(2)	large_intestine(1)|lung(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17						c.(1183-1185)Cgg>Tgg		RNA binding motif protein 22							117.0	112.0	114.0					5																	150071393		2203	4300	6503	SO:0001583	missense	55696				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding	g.chr5:150071393G>A	AL136933	CCDS34278.1	5q33.1	2013-02-12			ENSG00000086589	ENSG00000086589		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	25503	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 47"""	612430				20013661, 19133299	Standard	NM_018047		Approved	FLJ10290, ZC3H16, fSAP47, Cwc2	uc031slu.1	Q9NW64	OTTHUMG00000163589	ENST00000199814.4:c.1183C>T	5.37:g.150071393G>A	ENSP00000199814:p.Arg395Trp					RBM22_ENST00000540000.1_Missense_Mutation_p.R346W|RBM22_ENST00000447771.2_Missense_Mutation_p.R346W	p.R395W	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	1304	-		Medulloblastoma(196;0.167)	395			Pro-rich.		A6NDM5|B4DLI9|O95607	Missense_Mutation	SNP	ENST00000199814.4	37	c.1183C>T	CCDS34278.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883020	0.51908	.	.	ENSG00000086589	ENST00000199814;ENST00000540000;ENST00000447771	.	.	.	5.68	0.964	0.19655	.	0.047188	0.85682	D	0.000000	T	0.39253	0.1071	L	0.40543	1.245	0.54753	D	0.999981	D	0.58970	0.984	B	0.41299	0.353	T	0.42015	-0.9476	9	0.66056	D	0.02	-22.006	9.5132	0.39089	0.0:0.0718:0.4347:0.4935	.	395	Q9NW64	RBM22_HUMAN	W	395;346;346	.	ENSP00000199814:R395W	R	-	1	2	RBM22	150051586	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.610000	0.36869	0.996000	0.38943	-0.264000	0.10439	CGG		0.537	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374431.2	NM_018047		4	88	0	0	0	1	0	4	88				
GTF2F1	2962	broad.mit.edu	37	19	6381016	6381016	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr19:6381016G>A	ENST00000394456.5	-	11	1594	c.1130C>T	c.(1129-1131)tCg>tTg	p.S377L	PSPN_ENST00000597721.1_5'Flank|GTF2F1_ENST00000429701.2_Missense_Mutation_p.S292L	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	377					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|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)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GCTCCCTCCCGACGGCTTCCG	0.672																																						ENST00000394456.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						c.(1129-1131)tCg>tTg		general transcription factor IIF, polypeptide 1, 74kDa							28.0	18.0	21.0					19																	6381016		2197	4290	6487	SO:0001583	missense	2962				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding	g.chr19:6381016G>A		CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"""General transcription factors"""	4652	protein-coding gene	gene with protein product		189968	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.1130C>T	19.37:g.6381016G>A	ENSP00000377969:p.Ser377Leu					GTF2F1_ENST00000429701.2_Missense_Mutation_p.S292L	p.S377L	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN			11	1594	-			377					B2RCS0|Q9BWN0	Missense_Mutation	SNP	ENST00000394456.5	37	c.1130C>T	CCDS12165.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674504	0.67928	.	.	ENSG00000125651	ENST00000394456;ENST00000429701	T;T	0.52754	0.65;0.65	4.46	4.46	0.54185	.	0.074430	0.56097	D	0.000031	T	0.51312	0.1667	M	0.68593	2.085	0.80722	D	1	P;P;P	0.48407	0.851;0.91;0.727	P;P;B	0.45428	0.48;0.48;0.243	T	0.52968	-0.8504	10	0.29301	T	0.29	-12.1928	16.2586	0.82530	0.0:0.0:1.0:0.0	.	292;275;377	E7EUG6;B4DDB5;P35269	.;.;T2FA_HUMAN	L	377;292	ENSP00000377969:S377L;ENSP00000392107:S292L	ENSP00000377969:S377L	S	-	2	0	GTF2F1	6332016	1.000000	0.71417	0.017000	0.16124	0.211000	0.24417	8.631000	0.90991	2.188000	0.69820	0.585000	0.79938	TCG		0.672	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096		3	19	0	0	0	1	0	3	19				
ARVCF	421	broad.mit.edu	37	22	19960653	19960653	+	Silent	SNP	G	G	A	rs371327010		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr22:19960653G>A	ENST00000263207.3	-	14	2718	c.2427C>T	c.(2425-2427)ctC>ctT	p.L809L	ARVCF_ENST00000401994.1_Silent_p.L746L|ARVCF_ENST00000406522.1_Silent_p.L740L|ARVCF_ENST00000406259.1_Silent_p.L803L|ARVCF_ENST00000344269.3_Silent_p.L746L	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	809					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TGGAGGCCACGAGAGCCACCA	0.711																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(2425-2427)ctC>ctT		armadillo repeat gene deleted in velocardiofacial syndrome		G		1,4381		0,1,2190	15.0	16.0	16.0		2427	-7.6	0.0	22		16	0,8568		0,0,4284	no	coding-synonymous	ARVCF	NM_001670.2		0,1,6474	AA,AG,GG		0.0,0.0228,0.0077		809/963	19960653	1,12949	2191	4284	6475	SO:0001819	synonymous_variant	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19960653G>A		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2427C>T	22.37:g.19960653G>A						ARVCF_ENST00000406522.1_Silent_p.L740L|ARVCF_ENST00000406259.1_Silent_p.L803L|ARVCF_ENST00000401994.1_Silent_p.L746L|ARVCF_ENST00000344269.3_Silent_p.L746L	p.L809L	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			14	2718	-	Colorectal(54;0.0993)		809					B7WNV2	Silent	SNP	ENST00000263207.3	37	c.2427C>T	CCDS13771.1																																																																																				0.711	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		4	13	0	0	0	1	0	4	13				
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs532197977		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr17:45128685T>C	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TTCCAGGATATGGCTATACTG	0.303																																						ENST00000575173.1																			0																																																			0							g.chr17:45128685T>C																													17.37:g.45128685T>C														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.303	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	29	0	0	0	1	0	4	29				
METRNL	284207	broad.mit.edu	37	17	81052168	81052168	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr17:81052168G>A	ENST00000320095.7	+	4	909	c.784G>A	c.(784-786)Gtg>Atg	p.V262M	METRNL_ENST00000571814.1_Missense_Mutation_p.V180M|METRNL_ENST00000570778.1_Missense_Mutation_p.V180M|METRNL_ENST00000571940.1_3'UTR	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	262					brown fat cell differentiation (GO:0050873)|fat cell differentiation (GO:0045444)|negative regulation of inflammatory response (GO:0050728)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of energy homeostasis (GO:2000507)|response to cold (GO:0009409)|response to muscle activity (GO:0014850)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GGAGTGTGGCGTGCGGCCGGG	0.662																																						ENST00000571814.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8						c.(538-540)Gtg>Atg		meteorin, glial cell differentiation regulator-like							39.0	42.0	41.0					17																	81052168		2200	4294	6494	SO:0001583	missense	284207					extracellular region		g.chr17:81052168G>A	AK093748	CCDS32779.1	17q25.3	2004-12-01				ENSG00000176845			27584	protein-coding gene	gene with protein product							Standard	NM_001004431		Approved		uc002kgh.3	Q641Q3		ENST00000320095.7:c.784G>A	17.37:g.81052168G>A	ENSP00000315731:p.Val262Met					METRNL_ENST00000570778.1_Missense_Mutation_p.V180M|METRNL_ENST00000571940.1_3'UTR|METRNL_ENST00000320095.7_Missense_Mutation_p.V262M	p.V180M			Q641Q3	METRL_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)		3	1479	+	Breast(20;0.000443)|all_neural(118;0.0779)		262					B3KSJ5|Q86VM0	Missense_Mutation	SNP	ENST00000320095.7	37	c.538G>A	CCDS32779.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324268	0.41197	.	.	ENSG00000176845	ENST00000320095	T	0.38240	1.15	5.12	5.12	0.69794	.	0.065979	0.64402	U	0.000013	T	0.63757	0.2538	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67098	-0.5756	9	.	.	.	-22.4616	16.4367	0.83878	0.0:0.0:1.0:0.0	.	262	Q641Q3	METRL_HUMAN	M	262	ENSP00000315731:V262M	.	V	+	1	0	METRNL	78645588	1.000000	0.71417	0.872000	0.34217	0.156000	0.22039	9.048000	0.93830	2.573000	0.86826	0.561000	0.74099	GTG		0.662	METRNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438902.1	NM_001004431		6	57	0	0	0	1	0	6	57				
PCDHB8	56128	broad.mit.edu	37	5	140559775	140559775	+	Silent	SNP	G	G	T	rs199618532		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr5:140559775G>T	ENST00000239444.2	+	1	2405	c.2160G>T	c.(2158-2160)gcG>gcT	p.A720A	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	720					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGCAGGGCGGCCTCGGTGG	0.642																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(2158-2160)gcG>gcT									85.0	89.0	87.0					5																	140559775		2203	4300	6503	SO:0001819	synonymous_variant	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559775G>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.2160G>T	5.37:g.140559775G>T							p.A720A	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2405	+			720					B9EGV1	Silent	SNP	ENST00000239444.2	37	c.2160G>T	CCDS4250.1																																																																																				0.642	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		28	145	1	0	1.17739e-12	1	1.234e-12	28	145				
DDX11	1663	broad.mit.edu	37	12	31249813	31249813	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr12:31249813G>A	ENST00000407793.2	+	17	1902	c.1651G>A	c.(1651-1653)Gag>Aag	p.E551K	DDX11_ENST00000545668.1_Missense_Mutation_p.E551K|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.E525K|DDX11_ENST00000350437.4_Missense_Mutation_p.E551K|DDX11_ENST00000542838.1_Missense_Mutation_p.E551K|DDX11_ENST00000539673.1_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	551					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCCTGCAGACGAGAGTCAGGC	0.617										Multiple Myeloma(12;0.14)																												ENST00000407793.2																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.(1651-1653)Gag>Aag		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							49.0	48.0	49.0					12																	31249813		2203	4300	6503	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31249813G>A	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1651G>A	12.37:g.31249813G>A	ENSP00000384703:p.Glu551Lys	Multiple Myeloma(12;0.14)				DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Missense_Mutation_p.E551K|DDX11_ENST00000228264.6_Missense_Mutation_p.E525K|DDX11_ENST00000542838.1_Missense_Mutation_p.E551K|DDX11_ENST00000545668.1_Missense_Mutation_p.E551K|DDX11_ENST00000539673.1_3'UTR	p.E551K	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN			17	1902	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		551					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.1651G>A	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173169	0.38413	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	3.56	3.56	0.40772	.	0.579436	0.18328	N	0.144574	T	0.41096	0.1144	L	0.54908	1.71	0.80722	D	1	P;P;P;P	0.50710	0.938;0.929;0.875;0.938	B;B;B;B	0.37267	0.245;0.163;0.173;0.245	T	0.36939	-0.9727	10	0.12430	T	0.62	.	12.707	0.57065	0.0:0.0:1.0:0.0	.	525;551;551;551	Q96FC9-3;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	K	551;551;276;525;551;551	ENSP00000443426:E551K;ENSP00000384703:E551K;ENSP00000228264:E525K;ENSP00000440402:E551K;ENSP00000309965:E551K	ENSP00000228264:E525K	E	+	1	0	DDX11	31141080	1.000000	0.71417	0.016000	0.15963	0.012000	0.07955	4.925000	0.63425	1.813000	0.52934	0.505000	0.49811	GAG		0.617	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		7	34	0	0	0	1	0	7	34				
PPP1R26	9858	broad.mit.edu	37	9	138378033	138378033	+	Silent	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr9:138378033G>A	ENST00000356818.2	+	4	2226	c.1677G>A	c.(1675-1677)ccG>ccA	p.P559P	PPP1R26_ENST00000605286.1_Silent_p.P559P|PPP1R26_ENST00000401470.3_Silent_p.P559P|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000604351.1_Silent_p.P559P|PPP1R26_ENST00000605660.1_Silent_p.P559P	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	559					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										AGAGCTGCCCGCAGGCTGCCC	0.617																																						ENST00000356818.2																			0											c.(1675-1677)ccG>ccA		protein phosphatase 1, regulatory subunit 26							78.0	88.0	84.0					9																	138378033		2200	4293	6493	SO:0001819	synonymous_variant	9858					nucleolus	protein binding	g.chr9:138378033G>A	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1677G>A	9.37:g.138378033G>A						PPP1R26_ENST00000605660.1_Silent_p.P559P|PPP1R26_ENST00000605286.1_Silent_p.P559P|PPP1R26_ENST00000604351.1_Silent_p.P559P|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Silent_p.P559P	p.P559P	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	2226	+			559					Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	c.1677G>A	CCDS6988.1																																																																																				0.617	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		5	276	0	0	0	1	0	5	276				
MYLK	4638	broad.mit.edu	37	3	123452940	123452940	+	Silent	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr3:123452940C>T	ENST00000475616.1	-	7	902	c.903G>A	c.(901-903)caG>caA	p.Q301Q	MYLK_ENST00000360304.3_Silent_p.Q301Q|MYLK_ENST00000346322.5_Silent_p.Q301Q|MYLK_ENST00000359169.1_Silent_p.Q301Q|MYLK_ENST00000360772.3_Silent_p.Q301Q			Q15746	MYLK_HUMAN	myosin light chain kinase	301					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGCCACCTCTCTGGGGGCTGG	0.587																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(901-903)caG>caA		myosin light chain kinase							47.0	48.0	47.0					3																	123452940		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123452940C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.903G>A	3.37:g.123452940C>T						MYLK_ENST00000475616.1_Silent_p.Q301Q|MYLK_ENST00000360304.3_Silent_p.Q301Q|MYLK_ENST00000359169.1_Silent_p.Q301Q|MYLK_ENST00000346322.5_Silent_p.Q301Q	p.Q301Q			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	11	1281	-		Lung NSC(201;0.0496)	301					B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.903G>A	CCDS46896.1																																																																																				0.587	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		9	78	0	0	0	1	0	9	78				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		3	35	0	0	0	1	0	3	35				
PKD2	5311	broad.mit.edu	37	4	88986993	88986993	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr4:88986993G>A	ENST00000508588.1	+	7	969	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000237596.2_Missense_Mutation_p.E774K|PKD2_ENST00000502363.1_Missense_Mutation_p.E192K			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GACCGAACATGAACATCAGCA	0.448																																						ENST00000237596.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36						c.(2320-2322)Gaa>Aaa		polycystic kidney disease 2 (autosomal dominant)							193.0	167.0	176.0					4																	88986993		2203	4300	6503	SO:0001583	missense	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88986993G>A	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.574G>A	4.37:g.88986993G>A	ENSP00000427131:p.Glu192Lys					PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000508588.1_Missense_Mutation_p.E192K|PKD2_ENST00000502363.1_Missense_Mutation_p.E192K	p.E774K	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	12	2386	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	774			EF-hand domain.|EF-hand.		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000508588.1	37	c.2320G>A		.	.	.	.	.	.	.	.	.	.	G	27.5	4.837360	0.91117	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	T;T;T	0.70164	-0.46;-0.46;-0.46	5.74	5.74	0.90152	EF-hand-like domain (1);	0.171024	0.52532	D	0.000069	T	0.69324	0.3098	L	0.60067	1.865	0.80722	D	1	P	0.44044	0.825	B	0.42771	0.397	T	0.72707	-0.4212	10	0.66056	D	0.02	-21.1554	19.9357	0.97140	0.0:0.0:1.0:0.0	.	774	Q13563	PKD2_HUMAN	K	774;192;192	ENSP00000237596:E774K;ENSP00000427131:E192K;ENSP00000425289:E192K	ENSP00000237596:E774K	E	+	1	0	PKD2	89206017	1.000000	0.71417	0.430000	0.26722	0.854000	0.48673	9.506000	0.97992	2.715000	0.92844	0.655000	0.94253	GAA		0.448	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297		12	66	0	0	0	1	0	12	66				
ZNF280D	54816	broad.mit.edu	37	15	56961070	56961070	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr15:56961070C>T	ENST00000267807.7	-	14	1712	c.1496G>A	c.(1495-1497)cGa>cAa	p.R499Q	ZNF280D_ENST00000559237.1_Missense_Mutation_p.R486Q|ZNF280D_ENST00000396245.1_Missense_Mutation_p.R203Q|ZNF280D_ENST00000559000.1_Missense_Mutation_p.R486Q	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	499					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TATAAATGTTCGATGGTGTTG	0.299																																						ENST00000559237.1																			0				endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30						c.(1456-1458)cGa>cAa		zinc finger protein 280D							148.0	139.0	142.0					15																	56961070		2192	4292	6484	SO:0001583	missense	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56961070C>T	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.1496G>A	15.37:g.56961070C>T	ENSP00000267807:p.Arg499Gln					ZNF280D_ENST00000267807.7_Missense_Mutation_p.R499Q|ZNF280D_ENST00000396245.1_Missense_Mutation_p.R203Q|ZNF280D_ENST00000559000.1_Missense_Mutation_p.R486Q	p.R486Q	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	13	2140	-			499					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	c.1457G>A	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584317	0.46110	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000396245	T;T	0.03607	3.87;4.37	5.41	5.41	0.78517	.	.	.	.	.	T	0.12774	0.0310	L	0.39514	1.22	0.33123	D	0.542104	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.02751	-1.1115	9	0.42905	T	0.14	-6.704	18.1894	0.89802	0.0:1.0:0.0:0.0	.	562;499	B4DHL1;Q6N043	.;Z280D_HUMAN	Q	499;486;203	ENSP00000267807:R499Q;ENSP00000379545:R203Q	ENSP00000267807:R499Q	R	-	2	0	ZNF280D	54748362	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.604000	0.67626	2.532000	0.85374	0.655000	0.94253	CGA		0.299	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		11	51	0	0	0	1	0	11	51				
CAPZA3	93661	broad.mit.edu	37	12	18891249	18891249	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr12:18891249G>A	ENST00000317658.3	+	1	205	c.47G>A	c.(46-48)cGc>cAc	p.R16H	PLCZ1_ENST00000266505.7_5'Flank|PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	16					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AGAGTAATTCGCAGACTGTTA	0.443																																						ENST00000317658.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19						c.(46-48)cGc>cAc		capping protein (actin filament) muscle Z-line, alpha 3							89.0	86.0	87.0					12																	18891249		2203	4299	6502	SO:0001583	missense	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891249G>A	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.47G>A	12.37:g.18891249G>A	ENSP00000326238:p.Arg16His						p.R16H	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN			1	205	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	16					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.47G>A	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433098	0.25813	.	.	ENSG00000177938	ENST00000317658	.	.	.	5.07	-0.0503	0.13831	.	0.582198	0.16924	N	0.193964	T	0.13713	0.0332	N	0.04508	-0.205	0.23784	N	0.996858	B	0.06786	0.001	B	0.04013	0.001	T	0.15206	-1.0445	9	0.36615	T	0.2	-4.653	4.4348	0.11545	0.3682:0.0:0.4767:0.1551	.	16	Q96KX2	CAZA3_HUMAN	H	16	.	ENSP00000326238:R16H	R	+	2	0	CAPZA3	18782516	0.876000	0.30132	0.981000	0.43875	0.783000	0.44284	0.474000	0.22148	0.099000	0.17552	0.563000	0.77884	CGC		0.443	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		8	96	0	0	0	1	0	8	96				
SERPINA5	5104	broad.mit.edu	37	14	95053760	95053760	+	Missense_Mutation	SNP	C	C	T	rs183962439		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr14:95053760C>T	ENST00000554866.1	+	2	175	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C	SERPINA5_ENST00000329597.7_Missense_Mutation_p.R21C|SERPINA5_ENST00000554276.1_Missense_Mutation_p.R21C|SERPINA5_ENST00000553780.1_Missense_Mutation_p.R21C			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	21					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CTCCCTTCACCGCCACCACCC	0.582													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18050	0.0		0.0	False		,,,				2504	0.0					ENST00000329597.7																			0				endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36						c.(61-63)Cgc>Tgc		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	60.0	67.0	64.0		61	4.9	0.0	14		64	0,8600		0,0,4300	no	missense	SERPINA5	NM_000624.4	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	21/407	95053760	1,13005	2203	4300	6503	SO:0001583	missense	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95053760C>T	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.61C>T	14.37:g.95053760C>T	ENSP00000451126:p.Arg21Cys					SERPINA5_ENST00000553780.1_Missense_Mutation_p.R21C|SERPINA5_ENST00000554276.1_Missense_Mutation_p.R21C|SERPINA5_ENST00000554866.1_Missense_Mutation_p.R21C	p.R21C	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	3	271	+			21					Q07616|Q9UG30	Missense_Mutation	SNP	ENST00000554866.1	37	c.61C>T	CCDS9928.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	13.26	2.185565	0.38609	2.27E-4	0.0	ENSG00000188488	ENST00000554220;ENST00000553780;ENST00000554760;ENST00000554866;ENST00000329597;ENST00000556775;ENST00000553511;ENST00000554506;ENST00000554633;ENST00000555681;ENST00000438291;ENST00000554276;ENST00000557598;ENST00000556064	D;D;D;D;D;T;T;T;T;D;T	0.87887	-1.67;-1.67;-2.31;-1.67;-1.67;-0.88;-0.88;-0.88;-0.88;-1.67;-0.88	4.95	4.95	0.65309	Serpin domain (1);	0.813056	0.10575	N	0.658696	D	0.83880	0.5350	N	0.08118	0	0.09310	N	0.999996	D;D	0.89917	1.0;0.998	P;P	0.56700	0.804;0.719	T	0.75569	-0.3272	10	0.42905	T	0.14	.	13.2023	0.59776	0.0:0.8405:0.1595:0.0	.	21;21	G3V5Q9;P05154	.;IPSP_HUMAN	C	21	ENSP00000450484:R21C;ENSP00000450837:R21C;ENSP00000452469:R21C;ENSP00000451126:R21C;ENSP00000333203:R21C;ENSP00000450745:R21C;ENSP00000451215:R21C;ENSP00000451697:R21C;ENSP00000451650:R21C;ENSP00000451610:R21C;ENSP00000450485:R21C	ENSP00000333203:R21C	R	+	1	0	SERPINA5	94123513	0.005000	0.15991	0.007000	0.13788	0.039000	0.13416	2.091000	0.41691	2.469000	0.83416	0.561000	0.74099	CGC		0.582	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		11	94	0	0	0	1	0	11	94				
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr11:3427765G>C	ENST00000529482.1	+	0	882									tumor suppressing subtransferable candidate 2 pseudogene																		CACACGTCCTGCAGTGGCCTG	0.602																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427765G>C			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427765G>C														0	882	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	53	0	0	0	1	0	4	53				
NSUN7	79730	broad.mit.edu	37	4	40776906	40776906	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr4:40776906C>T	ENST00000381782.2	+	6	1259	c.764C>T	c.(763-765)tCt>tTt	p.S255F	NSUN7_ENST00000316607.5_Missense_Mutation_p.S255F|NSUN7_ENST00000463952.1_3'UTR	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	255							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						ATTTTTCCATCTCATCTTAAA	0.269																																						ENST00000381782.2																			0				NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(763-765)tCt>tTt		NOP2/Sun domain family, member 7							47.0	52.0	50.0					4																	40776906		2196	4277	6473	SO:0001583	missense	79730							g.chr4:40776906C>T	BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"""NOP2/Sun domain containing"""	25857	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family, member 7"""			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.764C>T	4.37:g.40776906C>T	ENSP00000371201:p.Ser255Phe					NSUN7_ENST00000463952.1_3'UTR|NSUN7_ENST00000316607.5_Missense_Mutation_p.S255F	p.S255F	NM_024677.4	NP_078953.3					6	1259	+								C9JI19|Q8N9K8|Q9H815	Missense_Mutation	SNP	ENST00000381782.2	37	c.764C>T	CCDS3461.2	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594353	0.66219	.	.	ENSG00000179299	ENST00000381782;ENST00000316607	T;T	0.47528	0.84;0.84	5.27	5.27	0.74061	.	0.577690	0.19175	N	0.120827	T	0.57446	0.2054	L	0.59436	1.845	0.31534	N	0.660834	P;D;P	0.55800	0.954;0.973;0.951	P;P;P	0.53988	0.736;0.739;0.739	T	0.65063	-0.6259	10	0.62326	D	0.03	-15.0422	13.8032	0.63214	0.1533:0.8467:0.0:0.0	.	255;255;255	Q8NE18;Q8NE18-2;Q8NE18-3	NSUN7_HUMAN;.;.	F	255	ENSP00000371201:S255F;ENSP00000319127:S255F	ENSP00000319127:S255F	S	+	2	0	NSUN7	40471663	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.846000	0.55888	2.614000	0.88457	0.655000	0.94253	TCT		0.269	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2	NM_024677		4	28	0	0	0	1	0	4	28				
HCN2	610	broad.mit.edu	37	19	603652	603652	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr19:603652C>G	ENST00000251287.2	+	2	794	c.741C>G	c.(739-741)ttC>ttG	p.F247L		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	247					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|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)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGATCGTGTTCAACGTGGTCT	0.552																																					Melanoma(145;1175 2427 8056 36306)	ENST00000251287.2																			0				endometrium(5)|lung(4)	9						c.(739-741)ttC>ttG		hyperpolarization activated cyclic nucleotide-gated potassium channel 2							116.0	101.0	106.0					19																	603652		2200	4298	6498	SO:0001583	missense	610				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr19:603652C>G	AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.741C>G	19.37:g.603652C>G	ENSP00000251287:p.Phe247Leu						p.F247L	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	794	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	247					O60742|O60743|O75267|Q9UBS2	Missense_Mutation	SNP	ENST00000251287.2	37	c.741C>G	CCDS12035.1	.	.	.	.	.	.	.	.	.	.	.	10.66	1.412080	0.25465	.	.	ENSG00000099822	ENST00000251287	D	0.98060	-4.69	3.22	3.22	0.36961	Ion transport (1);	.	.	.	.	D	0.96024	0.8705	M	0.66378	2.025	0.58432	D	0.999998	B	0.28880	0.226	B	0.37091	0.241	D	0.92852	0.6298	9	0.19147	T	0.46	.	8.1035	0.30872	0.0:0.8862:0.0:0.1138	.	247	Q9UL51	HCN2_HUMAN	L	247	ENSP00000251287:F247L	ENSP00000251287:F247L	F	+	3	2	HCN2	554652	1.000000	0.71417	1.000000	0.80357	0.237000	0.25408	3.099000	0.50267	1.838000	0.53458	0.479000	0.44913	TTC		0.552	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194		21	43	0	0	0	1	0	21	43				
DNMT3B	1789	broad.mit.edu	37	20	31386317	31386317	+	Silent	SNP	C	C	T	rs140714949	byFrequency	TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr20:31386317C>T	ENST00000328111.2	+	15	1863	c.1542C>T	c.(1540-1542)gcC>gcT	p.A514A	DNMT3B_ENST00000456297.2_Silent_p.A418A|DNMT3B_ENST00000201963.3_Silent_p.A506A|DNMT3B_ENST00000344505.4_Silent_p.A494A|DNMT3B_ENST00000348286.2_Silent_p.A494A|DNMT3B_ENST00000353855.2_Silent_p.A494A|DNMT3B_ENST00000443239.3_Silent_p.A452A|DNMT3B_ENST00000375623.4_3'UTR	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	514	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCACAGCGGCCGAGGCCAAGC	0.647																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1540-1542)gcC>gcT		DNA (cytosine-5-)-methyltransferase 3 beta		C	,,,,,	0,4406		0,0,2203	43.0	47.0	46.0		1356,1254,1542,1482,1482,1518	-11.5	0.0	20	dbSNP_134	46	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DNMT3B	NM_001207055.1,NM_001207056.1,NM_006892.3,NM_175848.1,NM_175849.1,NM_175850.2	,,,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,,,	452/729,418/695,514/854,494/834,494/771,506/846	31386317	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31386317C>T		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1542C>T	20.37:g.31386317C>T						DNMT3B_ENST00000353855.2_Silent_p.A494A|DNMT3B_ENST00000443239.3_Silent_p.A452A|DNMT3B_ENST00000344505.4_Silent_p.A494A|DNMT3B_ENST00000201963.3_Silent_p.A506A|DNMT3B_ENST00000456297.2_Silent_p.A418A|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000348286.2_Silent_p.A494A	p.A514A	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			15	1863	+			514			ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Silent	SNP	ENST00000328111.2	37	c.1542C>T	CCDS13205.1																																																																																				0.647	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		4	54	0	0	0	1	0	4	54				
SMAD9	4093	broad.mit.edu	37	13	37453794	37453794	+	Silent	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr13:37453794G>A	ENST00000399275.2	-	1	172	c.33C>T	c.(31-33)ttC>ttT	p.F11F	SMAD9_ENST00000483941.1_5'UTR|SMAD9_ENST00000350148.5_Silent_p.F11F|SMAD9_ENST00000379826.4_Silent_p.F11F			O15198	SMAD9_HUMAN	SMAD family member 9	11					BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TGGTGAAGGAGAAGAGGGAGC	0.602																																						ENST00000379826.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18						c.(31-33)ttC>ttT		SMAD family member 9							47.0	52.0	50.0					13																	37453794		2203	4300	6503	SO:0001819	synonymous_variant	4093				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr13:37453794G>A		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.33C>T	13.37:g.37453794G>A						SMAD9_ENST00000483941.1_5'UTR|SMAD9_ENST00000350148.5_Silent_p.F11F|SMAD9_ENST00000399275.2_Silent_p.F11F	p.F11F	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)	2	375	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	11					A2A2Y6|O14989|Q5TBA1	Silent	SNP	ENST00000399275.2	37	c.33C>T	CCDS45032.1																																																																																				0.602	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905		8	66	0	0	0	1	0	8	66				
DBF4	10926	broad.mit.edu	37	7	87516189	87516189	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr7:87516189G>A	ENST00000265728.1	+	4	934	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	144					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				ATTATTAGTTGAAAAAGCTAT	0.294																																						ENST00000265728.1																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28						c.(430-432)Gaa>Aaa		DBF4 homolog (S. cerevisiae)							101.0	105.0	103.0					7																	87516189		2203	4295	6498	SO:0001583	missense	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87516189G>A	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.430G>A	7.37:g.87516189G>A	ENSP00000265728:p.Glu144Lys						p.E144K	NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN			4	934	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	144					A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	c.430G>A	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883369	0.72410	.	.	ENSG00000006634	ENST00000265728	T	0.11930	2.73	5.67	5.67	0.87782	BRCT (1);	0.174705	0.50627	D	0.000114	T	0.15609	0.0376	L	0.43152	1.355	0.47819	D	0.999527	P	0.45176	0.852	P	0.44359	0.447	T	0.01706	-1.1291	10	0.29301	T	0.29	-24.1107	13.0272	0.58823	0.0734:0.0:0.9266:0.0	.	144	Q9UBU7	DBF4A_HUMAN	K	144	ENSP00000265728:E144K	ENSP00000265728:E144K	E	+	1	0	DBF4	87354125	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.308000	0.59129	2.659000	0.90383	0.655000	0.94253	GAA		0.294	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716		11	85	0	0	0	1	0	11	85				
MPP5	64398	broad.mit.edu	37	14	67787835	67787835	+	Silent	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr14:67787835G>A	ENST00000261681.4	+	13	2260	c.1599G>A	c.(1597-1599)cgG>cgA	p.R533R	MPP5_ENST00000555925.1_Silent_p.R499R|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	533	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)	p.R533R(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		TTGTTTCGCGGCAAGCATTCG	0.443																																						ENST00000261681.4																			1	Substitution - coding silent(1)	p.R533R(1)	lung(1)	cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18						c.(1597-1599)cgG>cgA		membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)							142.0	134.0	136.0					14																	67787835		2203	4300	6503	SO:0001819	synonymous_variant	64398				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding	g.chr14:67787835G>A	AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1599G>A	14.37:g.67787835G>A						ATP6V1D_ENST00000553974.1_Intron|MPP5_ENST00000555925.1_Silent_p.R499R	p.R533R	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN		all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)	13	2260	+			533			Guanylate kinase-like.		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Silent	SNP	ENST00000261681.4	37	c.1599G>A	CCDS9779.1																																																																																				0.443	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1	NM_022474		4	96	0	0	0	1	0	4	96				
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr17:45128671T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GCTCACAAAATAAGTTCCAGG	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128671T>G																													17.37:g.45128671T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			5	29	0	0	0	1	0	5	29				
WDR33	55339	broad.mit.edu	37	2	128471226	128471226	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr2:128471226C>T	ENST00000322313.4	-	18	3397	c.3239G>A	c.(3238-3240)cGc>cAc	p.R1080H		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1080					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCCGGGCCTGCGGCCTTCCCA	0.662																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(3238-3240)cGc>cAc		WD repeat domain 33							81.0	89.0	86.0					2																	128471226		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128471226C>T		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3239G>A	2.37:g.128471226C>T	ENSP00000325377:p.Arg1080His						p.R1080H	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	18	3397	-	Colorectal(110;0.1)		1080					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.3239G>A	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	35	5.422827	0.96111	.	.	ENSG00000136709	ENST00000322313	D	0.90563	-2.69	5.81	5.81	0.92471	.	0.134589	0.51477	D	0.000098	D	0.91095	0.7197	N	0.14661	0.345	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	D	0.91171	0.4968	10	0.40728	T	0.16	-6.9435	20.0726	0.97729	0.0:1.0:0.0:0.0	.	1080	Q9C0J8	WDR33_HUMAN	H	1080	ENSP00000325377:R1080H	ENSP00000325377:R1080H	R	-	2	0	WDR33	128187696	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.902000	0.69869	2.738000	0.93877	0.655000	0.94253	CGC		0.662	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		27	185	0	0	0	1	0	27	185				
CHRNA4	1137	broad.mit.edu	37	20	61981904	61981904	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr20:61981904C>T	ENST00000370263.4	-	5	1080	c.859G>A	c.(859-861)Gtc>Atc	p.V287I	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	287					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	AGCAGGAAGACGGTGAGCGAC	0.592																																						ENST00000370263.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33						c.(859-861)Gtc>Atc		cholinergic receptor, nicotinic, alpha 4 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						262.0	192.0	216.0					20																	61981904		2203	4300	6503	SO:0001583	missense	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61981904C>T		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.859G>A	20.37:g.61981904C>T	ENSP00000359285:p.Val287Ile					CHRNA4_ENST00000463705.1_5'UTR	p.V287I	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN			5	1080	-	all_cancers(38;1.71e-10)		287					Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	c.859G>A	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	C	33	5.247780	0.95305	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	D	0.88277	-2.36	5.06	5.06	0.68205	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.054671	0.64402	D	0.000001	D	0.94056	0.8095	M	0.71871	2.18	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.79108	0.992;0.976	D	0.94713	0.7894	10	0.87932	D	0	.	18.4025	0.90522	0.0:1.0:0.0:0.0	.	216;287	Q4VAQ5;P43681	.;ACHA4_HUMAN	I	193;287;216	ENSP00000359285:V287I	ENSP00000359280:V193I	V	-	1	0	CHRNA4	61452348	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.657000	0.83745	2.333000	0.79357	0.655000	0.94253	GTC		0.592	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			13	117	0	0	0	1	0	13	117				
GNB3	2784	broad.mit.edu	37	12	6954816	6954816	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr12:6954816C>T	ENST00000229264.3	+	10	1171	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	CDCA3_ENST00000604599.1_5'UTR|CDCA3_ENST00000422785.3_3'UTR|GNB3_ENST00000435982.2_Missense_Mutation_p.R255W	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	256					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GTTTGACCTGCGGGCAGACCA	0.612																																						ENST00000229264.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						c.(766-768)Cgg>Tgg		guanine nucleotide binding protein (G protein), beta polypeptide 3							106.0	97.0	100.0					12																	6954816		2203	4300	6503	SO:0001583	missense	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6954816C>T		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.766C>T	12.37:g.6954816C>T	ENSP00000229264:p.Arg256Trp					CDCA3_ENST00000604599.1_5'UTR|CDCA3_ENST00000422785.3_3'UTR|GNB3_ENST00000435982.2_Missense_Mutation_p.R255W	p.R256W	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN			10	1171	+			256					Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	c.766C>T	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.388435	0.42308	.	.	ENSG00000111664	ENST00000229264;ENST00000435982;ENST00000537035	T;T;T	0.01665	4.79;4.79;4.7	4.49	2.59	0.31030	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.13586	0.0329	H	0.95679	3.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.00241	-1.1886	10	0.87932	D	0	-7.4334	8.6291	0.33908	0.156:0.7635:0.0:0.0806	.	255;256	E9PCP0;P16520	.;GBB3_HUMAN	W	256;255;215	ENSP00000229264:R256W;ENSP00000414734:R255W;ENSP00000445967:R215W	ENSP00000229264:R256W	R	+	1	2	GNB3	6825077	1.000000	0.71417	1.000000	0.80357	0.041000	0.13682	2.489000	0.45285	0.463000	0.27118	-0.258000	0.10820	CGG		0.612	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		4	139	0	0	0	1	0	4	139				
LRP5	4041	broad.mit.edu	37	11	68153810	68153810	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr11:68153810C>T	ENST00000294304.7	+	6	1148	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	348	Beta-propeller 2.		R -> W (in OPPG). {ECO:0000269|PubMed:16252235}.		adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTGCTGGCCCGGCGGACGGA	0.662																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	GRCh37	CM053955	LRP5	M		c.(1042-1044)Cgg>Tgg		low density lipoprotein receptor-related protein 5							38.0	34.0	36.0					11																	68153810		2200	4291	6491	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68153810C>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1042C>T	11.37:g.68153810C>T	ENSP00000294304:p.Arg348Trp						p.R348W	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			6	1148	+			348		R -> W (in OPPG).	Beta-propeller 2.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.1042C>T	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319613	0.81469	.	.	ENSG00000162337	ENST00000294304	D	0.91464	-2.85	3.81	3.81	0.43845	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.42172	U	0.000754	D	0.95825	0.8641	M	0.92649	3.33	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.96124	0.9087	10	0.87932	D	0	.	11.5002	0.50433	0.228:0.7719:0.0:0.0	.	348	O75197	LRP5_HUMAN	W	348	ENSP00000294304:R348W	ENSP00000294304:R348W	R	+	1	2	LRP5	67910386	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.438000	0.59961	2.177000	0.69029	0.449000	0.29647	CGG		0.662	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		4	67	0	0	0	1	0	4	67				
MXD4	10608	broad.mit.edu	37	4	2252912	2252912	+	Missense_Mutation	SNP	C	C	T	rs376861289		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr4:2252912C>T	ENST00000337190.2	-	5	684	c.371G>A	c.(370-372)cGt>cAt	p.R124H	MIR4800_ENST00000537353.2_RNA	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	124					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CTTCAGGAAACGATGCTCCTG	0.647																																						ENST00000337190.2																			0				breast(1)|endometrium(1)|kidney(1)|lung(3)	6						c.(370-372)cGt>cAt		MAX dimerization protein 4							26.0	26.0	26.0					4																	2252912		2202	4300	6502	SO:0001583	missense	10608				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity	g.chr4:2252912C>T		CCDS3361.1	4p16.3	2008-08-19			ENSG00000123933	ENSG00000123933		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	13906	protein-coding gene	gene with protein product						8521822	Standard	NM_006454		Approved	MAD4, MSTP149, MST149, bHLHc12	uc003geu.1	Q14582	OTTHUMG00000090243	ENST00000337190.2:c.371G>A	4.37:g.2252912C>T	ENSP00000337889:p.Arg124His						p.R124H	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN			5	684	-			124					A2A335|Q5TZX4	Missense_Mutation	SNP	ENST00000337190.2	37	c.371G>A	CCDS3361.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752905	0.69648	.	.	ENSG00000123933	ENST00000337190	T	0.30182	1.54	4.49	3.65	0.41850	Helix-loop-helix DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.35335	0.0928	M	0.81112	2.525	0.80722	D	1	B	0.22746	0.074	B	0.17098	0.017	T	0.27157	-1.0082	10	0.87932	D	0	-17.7875	10.0631	0.42286	0.0:0.8992:0.0:0.1008	.	124	Q14582	MAD4_HUMAN	H	124	ENSP00000337889:R124H	ENSP00000337889:R124H	R	-	2	0	MXD4	2222710	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.435000	0.59941	0.864000	0.35578	0.511000	0.50034	CGT		0.647	MXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206519.1	NM_006454		4	13	0	0	0	1	0	4	13				
THBD	7056	broad.mit.edu	37	20	23029299	23029299	+	Silent	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr20:23029299G>A	ENST00000377103.2	-	1	1079	c.843C>T	c.(841-843)acC>acT	p.T281T		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	281	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	TCGCGGATGCGGTGCAGGAGC	0.706																																						ENST00000377103.2																			0				endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7						c.(841-843)acC>acT		thrombomodulin	Drotrecogin alfa(DB00055)						13.0	13.0	13.0					20																	23029299		2176	4269	6445	SO:0001819	synonymous_variant	7056				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity	g.chr20:23029299G>A		CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"""CD molecules"""	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.843C>T	20.37:g.23029299G>A							p.T281T	NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN			1	1079	-	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		281			EGF-like 1.		Q8IV29|Q9UC32	Silent	SNP	ENST00000377103.2	37	c.843C>T	CCDS13148.1																																																																																				0.706	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078307.2			3	17	0	0	0	1	0	3	17				
ZNF629	23361	broad.mit.edu	37	16	30794517	30794517	+	Missense_Mutation	SNP	C	C	G	rs369298747		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr16:30794517C>G	ENST00000262525.4	-	3	1339	c.1132G>C	c.(1132-1134)Gtg>Ctg	p.V378L		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	378					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			TTGCCGCACACTGGGCACTTG	0.657																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(1132-1134)Gtg>Ctg		zinc finger protein 629		C	LEU/VAL	1,4393	2.1+/-5.4	0,1,2196	34.0	35.0	35.0		1132	5.8	1.0	16		35	0,8600		0,0,4300	no	missense	ZNF629	NM_001080417.1	32	0,1,6496	GG,GC,CC		0.0,0.0228,0.0077	probably-damaging	378/870	30794517	1,12993	2197	4300	6497	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30794517C>G	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.1132G>C	16.37:g.30794517C>G	ENSP00000262525:p.Val378Leu						p.V378L	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	1339	-			378					Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.1132G>C	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004109	0.54254	2.28E-4	0.0	ENSG00000102870	ENST00000262525	T	0.09163	3.01	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41097	D	0.000960	T	0.17874	0.0429	N	0.05534	-0.03	0.26440	N	0.975789	D	0.69078	0.997	D	0.79108	0.992	T	0.22243	-1.0222	10	0.59425	D	0.04	-29.6604	18.7927	0.91980	0.0:1.0:0.0:0.0	.	378	Q9UEG4	ZN629_HUMAN	L	378	ENSP00000262525:V378L	ENSP00000262525:V378L	V	-	1	0	ZNF629	30702018	0.000000	0.05858	0.963000	0.40424	0.781000	0.44180	0.639000	0.24690	2.735000	0.93741	0.561000	0.74099	GTG		0.657	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		5	35	0	0	0	1	0	5	35				
IGF2BP1	10642	broad.mit.edu	37	17	47123652	47123652	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr17:47123652G>A	ENST00000290341.3	+	14	1892	c.1558G>A	c.(1558-1560)Gag>Aag	p.E520K	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.E381K	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	520	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GACGGCAGCTGAGGTGGTAGT	0.552																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1558-1560)Gag>Aag		insulin-like growth factor 2 mRNA binding protein 1							98.0	86.0	90.0					17																	47123652		2203	4300	6503	SO:0001583	missense	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47123652G>A	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1558G>A	17.37:g.47123652G>A	ENSP00000290341:p.Glu520Lys					IGF2BP1_ENST00000431824.2_Missense_Mutation_p.E381K	p.E520K	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN			14	1892	+			520			KH 4.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).		C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.1558G>A	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	32	5.111873	0.94339	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.25749	1.78;1.78	5.65	5.65	0.86999	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.111999	0.64402	D	0.000010	T	0.37433	0.1003	N	0.25094	0.71	0.58432	D	0.999999	D;D	0.89917	1.0;0.994	D;D	0.69824	0.966;0.958	T	0.02698	-1.1122	10	0.23891	T	0.37	-38.0061	19.5069	0.95121	0.0:0.0:1.0:0.0	.	381;520	C9JT33;Q9NZI8	.;IF2B1_HUMAN	K	520;381	ENSP00000290341:E520K;ENSP00000389135:E381K	ENSP00000290341:E520K	E	+	1	0	IGF2BP1	44478651	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.633000	0.83260	2.941000	0.99782	0.655000	0.94253	GAG		0.552	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		13	60	0	0	0	1	0	13	60				
SLC4A4	8671	broad.mit.edu	37	4	72400023	72400023	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr4:72400023C>T	ENST00000264485.5	+	18	2477	c.2360C>T	c.(2359-2361)cCg>cTg	p.P787L	SLC4A4_ENST00000351898.6_Missense_Mutation_p.P787L|SLC4A4_ENST00000425175.1_Missense_Mutation_p.P787L|SLC4A4_ENST00000340595.3_Missense_Mutation_p.P743L	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	787					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)	p.P787Q(1)|p.P743Q(1)		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)	GCTGCTATCCCGGCTTTGTTG	0.433																																						ENST00000340595.3																			2	Substitution - Missense(2)	p.P787Q(1)|p.P743Q(1)	lung(2)	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.(2227-2229)cCg>cTg		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							87.0	86.0	86.0					4																	72400023		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72400023C>T	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.2360C>T	4.37:g.72400023C>T	ENSP00000264485:p.Pro787Leu					SLC4A4_ENST00000351898.6_Missense_Mutation_p.P787L|SLC4A4_ENST00000425175.1_Missense_Mutation_p.P787L|SLC4A4_ENST00000264485.5_Missense_Mutation_p.P787L	p.P743L	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		15	2424	+			787					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.2228C>T	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364224	0.82463	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	5.69	5.69	0.88448	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94381	0.8193	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;1.0;1.0	D	0.94427	0.7646	10	0.87932	D	0	.	19.8191	0.96583	0.0:1.0:0.0:0.0	.	787;787;743;787	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;.;S4A4_HUMAN	L	787;787;787;743	ENSP00000264485:P787L;ENSP00000393557:P787L;ENSP00000307349:P787L;ENSP00000344272:P743L	ENSP00000264485:P787L	P	+	2	0	SLC4A4	72618887	1.000000	0.71417	0.998000	0.56505	0.362000	0.29581	7.787000	0.85759	2.676000	0.91093	0.650000	0.86243	CCG		0.433	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		6	32	0	0	0	1	0	6	32				
GAPT	202309	broad.mit.edu	37	5	57790546	57790546	+	Silent	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr5:57790546C>T	ENST00000396776.2	+	3	645	c.183C>T	c.(181-183)ttC>ttT	p.F61F	GAPT_ENST00000318469.2_Silent_p.F61F	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	61					B cell activation (GO:0042113)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CTAAAACATTCTTGGGCCCCC	0.453																																						ENST00000396776.2																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						c.(181-183)ttC>ttT		GRB2-binding adaptor protein, transmembrane							60.0	61.0	61.0					5																	57790546		2203	4300	6503	SO:0001819	synonymous_variant	202309				B cell activation	integral to membrane|plasma membrane		g.chr5:57790546C>T	AK090960	CCDS3975.1	5q11.2	2011-11-01	2008-10-07	2008-10-07	ENSG00000175857	ENSG00000175857			26588	protein-coding gene	gene with protein product	"""GRB2-binding transmembrane adaptor"""		"""chromosome 5 open reading frame 29"""	C5orf29			Standard	NM_152687		Approved	FLJ33641	uc003jro.1	Q8N292	OTTHUMG00000131219	ENST00000396776.2:c.183C>T	5.37:g.57790546C>T						GAPT_ENST00000318469.2_Silent_p.F61F	p.F61F	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN			3	645	+			61						Silent	SNP	ENST00000396776.2	37	c.183C>T	CCDS3975.1																																																																																				0.453	GAPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253963.1	NM_152687		5	43	0	0	0	1	0	5	43				
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr3:129370576_129370578delCTG	ENST00000393238.3	-	6	2048_2050	c.1708_1710delCAG	c.(1708-1710)cagdel	p.Q570del	TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	570						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCACCACCTGCTGCTGCTGC	0.581																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1708-1710)del		transmembrane and coiled-coil domain family 1																																				SO:0001651	inframe_deletion	23023					integral to membrane		g.chr3:129370576_129370578delCTG	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1708_1710delCAG	3.37:g.129370585_129370587delCTG	ENSP00000376930:p.Gln570del					TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del	p.Q570del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2048_2050	-			570					A8K5Y3|B4DE04|Q68E06|Q8IXM8	In_Frame_Del	DEL	ENST00000393238.3	37	c.1708_1710delCAG	CCDS33855.1																																																																																				0.581	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		7	149						7	149	---	---	---	---
PRR7	80758	broad.mit.edu	37	5	176872641	176872641	+	5'Flank	DEL	A	A	-			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr5:176872641delA	ENST00000323249.3	+	0	0				PRR7-AS1_ENST00000514846.1_RNA|PRR7_ENST00000502922.1_5'Flank|PRR7-AS1_ENST00000511565.1_RNA|PRR7_ENST00000510492.1_5'Flank|PRR7-AS1_ENST00000425316.3_RNA|PRR7-AS1_ENST00000506465.1_RNA	NM_030567.4	NP_085044.2	Q8TB68	PRR7_HUMAN	proline rich 7 (synaptic)							cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)						all_cancers(89;1.51e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			agagtgatgcaaacagaagca	0.532																																						ENST00000425316.3																			0																																																	SO:0001631	upstream_gene_variant	340037							g.chr5:176872641delA	BC021240	CCDS4419.1	5q35.3	2005-01-20			ENSG00000131188	ENSG00000131188			28130	protein-coding gene	gene with protein product						15629447	Standard	NM_030567		Approved	MGC10772	uc003mgw.2	Q8TB68	OTTHUMG00000130861		5.37:g.176872641delA	Exception_encountered							NR_038915.1						0	56	-								Q8WU53|Q9BTA7	RNA	DEL	ENST00000323249.3	37		CCDS4419.1																																																																																				0.532	PRR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253435.1	NM_030567		2	4						2	4	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	-	G	rs375659563		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr8:110455173_110455174insG	ENST00000378402.5	+	36	4497		c.e36-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.e36-1		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1																																				SO:0001630	splice_region_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110455173_110455174insG	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4394-1->G	8.37:g.110455175_110455175dupG		HNSCC(38;0.096)						NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		36	4497	+								Q567P2|Q9UF27	Splice_Site	INS	ENST00000378402.5	37		CCDS47911.1																																																																																				0.322	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	Intron	8	111						8	111	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G	rs199996275	byFrequency	TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933									DNM1 pseudogene 47																		AACCTGTACTCGCGTCGGAACC	0.589													|||unknown(NO_COVERAGE)	758	0.151358	0.2511	0.1167	5008	,	,		74102	0.0595		0.163	False		,,,				2504	0.1237					ENST00000561463.1																			0																																																			100216544							g.chr15:102299886_102299887insG	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102299887_102299887dupG														0	7932_7933	+									RNA	INS	ENST00000561463.1	37																																																																																						0.589	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		2	4						2	4	---	---	---	---
FBXL19	54620	broad.mit.edu	37	16	30939203	30939204	+	Frame_Shift_Ins	INS	-	-	C	rs553383049		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr16:30939203_30939204insC	ENST00000380310.2	+	5	764_765	c.606_607insC	c.(607-609)cccfs	p.P203fs	FBXL19_ENST00000565690.1_Intron|FBXL19_ENST00000338343.4_Frame_Shift_Ins_p.P183fs|FBXL19_ENST00000471231.2_5'UTR|FBXL19_ENST00000562319.1_Frame_Shift_Ins_p.P183fs	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	203	Pro-rich.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TGCCTGCCGGGCCCCCCCCGGA	0.708																																						ENST00000338343.4																			0				breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(544-549)ggccccfs		F-box and leucine-rich repeat protein 19																																				SO:0001589	frameshift_variant	54620						DNA binding|zinc ion binding	g.chr16:30939203_30939204insC	AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"""F-boxes / Leucine-rich repeats"""	25300	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1C"""	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.614dupC	16.37:g.30939211_30939211dupC	ENSP00000369666:p.Pro203fs					FBXL19_ENST00000562319.1_Frame_Shift_Ins_p.GP182fs|FBXL19_ENST00000471231.2_5'UTR|FBXL19_ENST00000565690.1_Intron|FBXL19_ENST00000380310.2_Frame_Shift_Ins_p.GP202fs	p.GP182fs			Q6PCT2	FXL19_HUMAN			5	933_934	+			202					A8MT10|Q8N789|Q9NT14	Frame_Shift_Ins	INS	ENST00000380310.2	37	c.546_547insC	CCDS45465.1																																																																																				0.708	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_019085		2	4						2	4	---	---	---	---
SCARF2	91179	broad.mit.edu	37	22	20791940	20791941	+	In_Frame_Ins	INS	-	-	AGC			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr22:20791940_20791941insAGC	ENST00000266214.5	-	1	205_206	c.101_102insGCT	c.(100-102)ctc>ctGCTc	p.34_34L>LL	SCARF2_ENST00000405555.3_In_Frame_Ins_p.34_34L>LL	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	34					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCAGCATCCAGagcagcagcag	0.782																																						ENST00000405555.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10						c.(100-102)ctg>cGCTtg		scavenger receptor class F, member 2																																				SO:0001652	inframe_insertion	91179				cell adhesion	integral to membrane	protein binding|receptor activity	g.chr22:20791940_20791941insAGC	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.99_101dupGCT	22.37:g.20791947_20791949dupAGC	ENSP00000266214:p.Leu34dup					SCARF2_ENST00000266214.5_In_Frame_Ins_p.33_34insR	p.33_34insR	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		1	171_172	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	33					E5RFB8|Q58A83|Q8IXF3|Q9BW74	In_Frame_Ins	INS	ENST00000266214.5	37	c.101_102insGCT	CCDS13779.1																																																																																				0.782	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			6	4						6	4	---	---	---	---
CAPN6	827	broad.mit.edu	37	X	110494259	110494259	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chrX:110494259delA	ENST00000324068.1	-	8	1211	c.1044delT	c.(1042-1044)tttfs	p.F348fs	CAPN6_ENST00000541758.1_Frame_Shift_Del_p.F93fs	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	348	Domain III.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCTTTCGGCCAAAAATAGGGT	0.488																																						ENST00000324068.1																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(1042-1044)ttfs		calpain 6							331.0	293.0	306.0					X																	110494259		2203	4300	6503	SO:0001589	frameshift_variant	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494259delA	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1044delT	X.37:g.110494259delA	ENSP00000317214:p.Phe348fs					CAPN6_ENST00000541758.1_Frame_Shift_Del_p.F93fs	p.F348fs	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN			8	1211	-			348			Domain III.		D3DUY7|Q9UEQ1|Q9UJA8	Frame_Shift_Del	DEL	ENST00000324068.1	37	c.1044delT	CCDS14555.1																																																																																				0.488	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			7	629						7	629	---	---	---	---
